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
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:121295936C>G	ENST00000297848.3	+	32	4156	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1296A|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1201A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1296	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1296A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGGATTCTTCCTGACACTCC	0.388000													40	198					0	0	0.864702	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842568	22842568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22842568G>A	ENST00000360412.2	-	4	1931	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF280B_ENST00000406426.1_Nonsense_Mutation_p.Q386*	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q386*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAGAGGACCTGATCTGTTTCA	0.468000													81	379					0	0	0.870114	0	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10602328C>T	ENST00000171111.5	-	3	1797	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													3	4					0	0	0.184627	0	0
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:42355849T>A	ENST00000554171.1	+	5	2453	c.21T>A	c.(19-21)taT>taA	p.Y7*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.Y7*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.Y7*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	7						integral to membrane		p.Y7*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTTTTTTATCTGTTTCTCA	0.363000										HNSCC(30;0.082)			26	43					0	0	0.750413	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:67800450G>T	ENST00000313468.5	+	4	277	c.170G>T	c.(169-171)cGc>cTc	p.R57L	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	57					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	p.R57L(2)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CGGGCAGCCCGCACCCTGCTG	0.652000													15	16					5.03518e-11	5.65347e-11	0.557998	1	0
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:7231811G>T	ENST00000383467.2	+	1	689	c.675G>T	c.(673-675)ccG>ccT	p.P225P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTCCTTCCCGAGGTCGCTTT	0.577000													38	67					3.21399e-22	3.8764e-22	0.804634	1	0
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:122063033G>T	ENST00000454328.1	-	11	1050	c.823C>A	c.(823-825)Cac>Aac	p.H275N	TNIP3_ENST00000507879.1_Missense_Mutation_p.H345N|TNIP3_ENST00000509841.1_Missense_Mutation_p.H352N|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.H275N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	275								p.H275N(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTTGCAGGTGGAAAACCAAG	0.502000													32	62					2.24893e-16	2.61333e-16	0.847076	1	0
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:18112823C>A	ENST00000403915.1	+	3	999	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.S183Y|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	183					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.S183Y(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTGCCTGTCCGCTAAGCTT	0.507000													58	117					5.5144e-22	6.64545e-22	0.870114	1	0
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:76372111C>A	ENST00000407242.2	-	3	768	c.526G>T	c.(526-528)Gag>Tag	p.E176*	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E176*|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E176*|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176						integral to plasma membrane		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637000													42	133					7.89702e-26	9.6924e-26	0.870114	1	0
GOLGA2P5	55592	broad.mit.edu	37	12	100561198	100561198	+	RNA	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100561198T>C	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						TCTCCGTTTGTAGTTATCTAA	0.498000													2	6					0	0	0.115264	0	0
DRD3	1814	broad.mit.edu	37	3	113890706	113890706	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113890706A>T	ENST00000383673.2	-	2	564	c.134T>A	c.(133-135)tTc>tAc	p.F45Y	DRD3_ENST00000295881.7_Missense_Mutation_p.F45Y|DRD3_ENST00000467632.1_Missense_Mutation_p.F45Y|DRD3_ENST00000460779.1_Missense_Mutation_p.F45Y	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	45					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCATTGCCGAAGACGATGGC	0.607000													6	70					0	0	0.278610	0	0
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400307A>T	ENST00000397909.2	+	8	1162	c.989A>T	c.(988-990)aAg>aTg	p.K330M	NAV3_ENST00000228327.6_Missense_Mutation_p.K330M|NAV3_ENST00000266692.7_Missense_Mutation_p.K330M|NAV3_ENST00000536525.2_Missense_Mutation_p.K330M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K330M(2)		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						AGTGCCAGCAAGCCCTGGCGC	0.547000										HNSCC(70;0.22)			55	150					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70535449C>A	ENST00000377844.4	-	3	1567	c.808G>T	c.(808-810)Gca>Tca	p.A270S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A77S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	270	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTATATGCAAATTGGACA	0.353000													62	107					7.97268e-31	9.99489e-31	0.870114	1	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338000													5	24					0	0	0.184627	0	0
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148513776C>T	ENST00000320356.2	-	12	1626	c.1505_splice	c.e12+1	p.R502_splice	EZH2_ENST00000478654.1_Splice_Site_p.R488_splice|EZH2_ENST00000483967.1_Splice_Site_p.R488_splice|EZH2_ENST00000476773.1_Splice_Site_p.R488_splice|EZH2_ENST00000460911.1_Splice_Site_p.R497_splice|EZH2_ENST00000350995.2_Splice_Site_p.R458_splice|EZH2_ENST00000541220.1_Splice_Site_p.R488_splice	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	497					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R502Q(2)|p.R458Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAGACTCACCGGTGTTTCCT	0.453000			Mis		DLBCL								35	38					0	0	0.819951	0	0
UNC79	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083525C>A	ENST00000553484.1	+	29	4319	c.4165C>A	c.(4165-4167)Ctc>Atc	p.L1389I	UNC79_ENST00000256339.4_Missense_Mutation_p.L1190I|UNC79_ENST00000555664.1_Missense_Mutation_p.L1367I|UNC79_ENST00000393151.2_Missense_Mutation_p.L1367I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1367						integral to membrane		p.L1190I(2)|p.L1389I(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTTCAGGTGCTCAAATACTG	0.433000													55	244					2.36135e-34	3.01454e-34	0.870114	1	0
MB21D2	151963	broad.mit.edu	37	3	192516994	192516994	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:192516994G>A	ENST00000392452.2	-	2	977	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	219								p.I217I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGATGGAGATGATGGTCCCAT	0.468000													16	248					0	0	0.539581	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:148797297A>T	ENST00000355220.5	+	4	328	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S47C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	76						cytoplasm|nucleus	protein binding	p.S76C(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGACAGGAGTCCCAGGAG	0.502000													19	50					0	0	0.639603	0	0
KMT2C	58508	broad.mit.edu	37	7	151945082	151945082	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:151945082G>C	ENST00000355193.2	-	14	2655	c.2437C>G	c.(2437-2439)Cca>Gca	p.P813A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P813A					lysine (K)-specific methyltransferase 2C									p.P813A(2)									TAAGTTGTTGGCATGATGTTT	0.448000													93	1280					0	0	0.870114	0	0
VEZF1	7716	broad.mit.edu	37	17	56058018	56058018	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:56058018G>C	ENST00000584396.1	-	4	983	c.895C>G	c.(895-897)Cat>Gat	p.H299D	VEZF1_ENST00000581208.1_Missense_Mutation_p.H308D			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H308D(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTCTGCCCATGAGTCTTTAAG	0.443000													26	152					0	0	0.769981	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677957	55677957	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55677957C>T	ENST00000527223.2	-	1	61	c.60G>A	c.(58-60)gtG>gtA	p.V20V	DNAAF3_ENST00000391720.4_Silent_p.V20V|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0								p.V20V(1)									GGACCCGCGGCACTCCACAAC	0.582000													12	43					0	0	0.411799	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104335781G>A	ENST00000361820.3	-	9	3623	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGCTGACGGGGTCCCACATT	0.448000													80	92					0	0	0.870114	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:11505373G>T	ENST00000379237.1	-	15	1948	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518						intracellular	Rab GTPase activator activity	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000													52	96					5.22555e-25	6.36552e-25	0.870114	1	0
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180581966C>A	ENST00000328275.1	+	1	24	c.24C>A	c.(22-24)tcC>tcA	p.S8S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACCAGTCCTACACAGATG	0.507000													104	293					7.97055e-49	1.0572e-48	0.870114	1	0
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:151789697G>T	ENST00000367294.3	+	5	1037	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	C6orf211_ENST00000545879.1_Missense_Mutation_p.V141F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	260							protein binding	p.V260F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTGAGCTTGTTACAGATTT	0.358000													46	60					3.50607e-19	4.17022e-19	0.870114	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31744334G>C	ENST00000399889.2	-	1	223	c.198C>G	c.(196-198)tgC>tgG	p.C66W		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	5 X 10 AA approximate repeats.					intermediate filament		p.C66W(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGACGTCTGGCAGCTGGTGG	0.602000													19	91					0	0	0.693898	0	0
CTSV	1515	broad.mit.edu	37	9	99800279	99800279	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99800279G>C	ENST00000259470.5	-	2	296	c.47C>G	c.(46-48)tCc>tGc	p.S16C	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.S16C	NM_001333.3	NP_001324.2			cathepsin V																		TGGAACAGCGGAGGCTATTCC	0.413000													3	44					0	0	0.115264	0	0
TAP2	6891	broad.mit.edu	37	6	32805830	32805830	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32805830A>C	ENST00000374897.2	-	2	312	c.181T>G	c.(181-183)Ttt>Gtt	p.F61V	TAP2_ENST00000374899.4_Missense_Mutation_p.F61V|TAP2_ENST00000452392.2_Missense_Mutation_p.F61V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	61					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.F61V(2)									GTCCCCACAAATCCCAGCAGC	0.667000													17	47					0	0	0.608945	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													4	45					0.00909568	0.00921536	0.150653	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1																						CCTTTGTGTCCCCTTTGGCTT	0.532000													48	77					0	0	0.870114	0	0
DST	667	broad.mit.edu	37	6	56401663	56401663	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:56401663G>C	ENST00000370754.5	-	62	16590	c.16591C>G	c.(16591-16593)Cag>Gag	p.Q5531E	DST_ENST00000361203.3_Missense_Mutation_p.Q5351E|DST_ENST00000244364.6_Missense_Mutation_p.Q2939E|DST_ENST00000370788.2_Missense_Mutation_p.Q3265E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q5353E|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Q3265E|DST_ENST00000446842.2_Missense_Mutation_p.Q5027E			Q03001	DYST_HUMAN	dystonin	5351					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q5353E(1)|p.Q2939E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGCACTCTGAATAAGGCCT	0.423000													29	168					0	0	0.788014	0	0
SNX27	81609	broad.mit.edu	37	1	151641082	151641082	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:151641082G>A	ENST00000368843.3	+	7	1240	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SNX27_ENST00000458013.2_Missense_Mutation_p.D374N|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.D281N	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	374					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.D374N(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAATGACAATGACCTTGCTGT	0.363000													25	218					0	0	0.717897	0	0
MARCH1	55016	broad.mit.edu	37	4	164534557	164534557	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:164534557A>T	ENST00000339875.5	-	1	129	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	51	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L34M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGAAACAAGTTAGATAAT	0.438000													26	86					0	0	0.729181	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:103349497T>G	ENST00000357421.4	-	2	624	c.444A>C	c.(442-444)caA>caC	p.Q148H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	148					transport	integral to membrane|mitochondrial inner membrane		p.Q148H(2)									GGAAGCGAGCTTGCTTGCGAC	0.587000													91	201					0	0	0.870114	0	0
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113955199C>T	ENST00000245796.6	+	13	2640	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	PSD4_ENST00000441564.2_Silent_p.L787L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L815L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATGGTTCTCTACTTCCTGA	0.552000													12	52					0	0	0.411799	0	0
C4orf22	255119	broad.mit.edu	37	4	81504334	81504334	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:81504334G>A	ENST00000358105.3	+	3	379	c.330G>A	c.(328-330)ctG>ctA	p.L110L	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Silent_p.L110L	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	110								p.L110L(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGGAAAACTGAGTGTAAGTA	0.338000													12	69					0	0	0.479597	0	0
TRPC6	7225	broad.mit.edu	37	11	101375108	101375108	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:101375108G>T	ENST00000344327.3	-	2	1016	c.592C>A	c.(592-594)Cag>Aag	p.Q198K	TRPC6_ENST00000532133.1_Missense_Mutation_p.Q198K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q198K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	198					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.Q198K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTCAGACTGGCTAGGGCTG	0.468000													27	141					3.65163e-15	4.2132e-15	0.706142	1	0
TRPT1	83707	broad.mit.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63991664C>G	ENST00000394546.2	-	7	797	c.584G>C	c.(583-585)cGc>cCc	p.R195P	TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000317459.6_Missense_Mutation_p.R193P|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144P|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000546089.1_Intron	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193							tRNA 2'-phosphotransferase activity	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567000													5	12					0	0	0.217242	0	0
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:148846478G>T	ENST00000367467.3	+	11	1736	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421							protein binding	p.G421C(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTGCACGTTGGCAGTAATAA	0.423000													87	98					1.64877e-56	2.21705e-56	0.870114	1	0
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15138469G>A	ENST00000378207.3	-	2	628	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	119						integral to membrane		p.L119F(2)		lung(5)|upper_aerodigestive_tract(1)	6						GCGGGGAGAAGGAGGAGGCTC	0.478000													6	25					0	0	0.217242	0	0
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:129357178G>T	ENST00000393232.1	+	9	1302	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	NRF1_ENST00000393230.2_Missense_Mutation_p.E395D|NRF1_ENST00000539636.1_Missense_Mutation_p.E234D|NRF1_ENST00000311967.2_Missense_Mutation_p.E395D|NRF1_ENST00000353868.4_Missense_Mutation_p.E329D|NRF1_ENST00000223190.4_Missense_Mutation_p.E395D|NRF1_ENST00000393231.3_Missense_Mutation_p.E395D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E395D(2)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCTCAGGAGATGCAGCAGG	0.572000													80	68					9.34078e-37	1.19979e-36	0.870114	1	0
TRAV24	28659	broad.mit.edu	37	14	22573837	22573837	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22573837C>G	ENST00000390453.1	+	0	57																											AAAAAACAGGCGTGAGCAGCA	0.438000													11	35					0	0	0.387290	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:139909060G>T	ENST00000297183.6	+	29	6653	c.6529G>T	c.(6529-6531)Gtg>Ttg	p.V2177L	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V2177L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.V2177L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.V560L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.V2177L(4)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCTGCAGTGCAGCTTTC	0.443000													48	121					1.19451e-25	1.4624e-25	0.870114	1	0
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:21214028T>C	ENST00000592179.1	-	5	570	c.416A>G	c.(415-417)cAt>cGt	p.H139R	ANKRD29_ENST00000322980.9_Missense_Mutation_p.H139R|ANKRD29_ENST00000284207.7_Missense_Mutation_p.H139R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139								p.H139R(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTGGTCATGGATGTTTGC	0.493000													26	69					0	0	0.760397	0	0
IGSF8	93185	broad.mit.edu	37	1	160063737	160063737	+	Missense_Mutation	SNP	G	G	A	rs149050765		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160063737G>A	ENST00000368086.1	-	3	883	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	IGSF8_ENST00000314485.7_Missense_Mutation_p.R223W|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	223	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.R223W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AAGTCTGACCGGATTCCCACC	0.612000													40	189					0	0	0.864702	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149001437A>T	ENST00000333677.6	+	9	1310	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	383	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S383C(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGGTGGGCAGTGTGACCTA	0.592000													11	72					0	0	0.387290	0	0
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155615825A>G	ENST00000496455.1	+	3	654	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.M107V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGCTATGGTATGCAGGTATG	0.363000			T	MLL	AML								102	362					0	0	0.870114	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575302	56575302	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56575302G>A	ENST00000394023.3	-	10	1025	c.920C>T	c.(919-921)cCa>cTa	p.P307L	SMARCC2_ENST00000267064.4_Missense_Mutation_p.P307L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P307L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P307L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	307					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P307L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTGGGGTTGGTGAAGGAGA	0.512000													15	97					0	0	0.575678	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49340593C>T	ENST00000263265.6	-	20	2848	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	765						cytoplasm|membrane	1-phosphatidylinositol binding	p.E765K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CATGCCCCCTCGTCTTGTGGC	0.677000													20	103					0	0	0.693898	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport|sodium ion transport	integral to membrane		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677000													12	23					0	0	0.435327	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882203	6882203	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:6882203G>T	ENST00000419673.2	+	10	1098	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R294I|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R453I|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R453I|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R294I|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R401I|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R276I|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R289I	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	276					signal transduction	intracellular		p.R294I(1)|p.R453I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATGTGCCATAGAGAAGCTGCA	0.388000													7	132					0.000274275	0.000283179	0.307466	1	0
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:220097894G>C	ENST00000323348.5	+	6	826	c.652G>C	c.(652-654)Gct>Cct	p.A218P	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A218P|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A8P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	218						intracellular	zinc ion binding	p.A218P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTTTGCTGGTGCTAT	0.557000													37	211					0	0	0.847076	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302615	87302615	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:87302615T>C	ENST00000263780.4	+	5	724	c.486T>C	c.(484-486)atT>atC	p.I162I	CHMP2B_ENST00000471660.1_Silent_p.I121I|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Silent_p.I132I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	162					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.I162I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCCAGGATATTGTGAATCAAG	0.378000													35	237					0	0	0.859065	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103106399A>T	ENST00000375735.2	+	62	9711		c.e62-1		DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTTCCAGGTTGTAGAG	0.373000													31	88					0	0	0.819951	0	0
EPHB1	2047	broad.mit.edu	37	3	134670262	134670262	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:134670262A>G	ENST00000398015.3	+	3	543	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	58						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.Y58C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCCGCACCTACCAGGTGTGC	0.527000													16	109					0	0	0.557998	0	0
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:72123457C>A	ENST00000340726.3	-	17	2271	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	EYA1_ENST00000388743.2_Missense_Mutation_p.R543S|EYA1_ENST00000388741.2_Missense_Mutation_p.R510S|EYA1_ENST00000388742.4_Missense_Mutation_p.R544S|EYA1_ENST00000419131.1_Missense_Mutation_p.R509S|EYA1_ENST00000303824.7_Missense_Mutation_p.R538S|EYA1_ENST00000388740.3_Missense_Mutation_p.R511S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	544					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R544S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358000													93	236					1.83308e-29	2.28044e-29	0.870114	1	0
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:234593467G>A	ENST00000040877.1	-	9	1667	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L556L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAGACATGAGAAAAGTTG	0.328000													78	100					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141773472	141773472	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:141773472C>G	ENST00000389484.3	-	13	2954	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	661					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W661C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTCTGTCCAATACATCC	0.403000										TSP Lung(27;0.18)			31	204					0	0	0.788014	0	0
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69758130C>G	ENST00000370598.1	+	14	2982	c.2161C>G	c.(2161-2163)Cca>Gca	p.P721A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAACTTTCCAATGAAAGG	0.363000													52	55					0	0	0.870114	0	0
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:82336941T>A	ENST00000329713.4	-	2	705	c.270A>T	c.(268-270)aaA>aaT	p.K90N	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	90	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.K90N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCCGCAGCGCTTTGATTTTAC	0.597000													9	15					0	0	0.387290	0	0
MOB4	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198400314G>A	ENST00000323303.4	+	3	439	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MOB4_ENST00000448447.2_Missense_Mutation_p.E41K|MOB4_ENST00000233892.4_Missense_Mutation_p.E30K|MOB4_ENST00000409360.1_Missense_Mutation_p.E30K|MOB4_ENST00000604458.1_Missense_Mutation_p.E98K|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000497443.1_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein									p.E62K(2)									TGAACCACCTGAAGGCCAAGA	0.318000													223	217					0	0	0.870114	0	0
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:121738051G>C	ENST00000264808.3	-	6	919	c.679C>G	c.(679-681)Cta>Gta	p.L227V	PRDM5_ENST00000428209.2_Intron|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L227V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACTCCTTTAGACTGCTTTTC	0.368000													45	194					0	0	0.870114	0	0
ZNF232	7775	broad.mit.edu	37	17	5012590	5012590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5012590G>A	ENST00000416429.2	-	3	794	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ZNF232_ENST00000250076.3_Intron|ZNF232_ENST00000575898.1_Intron|ZNF232_ENST00000575538.1_Intron			Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCTGGCCCAAGAGAGGTTTGA	0.532000													5	7					0	0	0.184627	0	0
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:84399443C>A	ENST00000260505.8	-	9	1272	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.V299L(2)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTCTTTACCACCAATTCCTAT	0.443000													46	168					2.84144e-21	3.41019e-21	0.870114	1	0
SELP	6403	broad.mit.edu	37	1	169562881	169562881	+	Missense_Mutation	SNP	G	G	A	rs75278502	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:169562881G>A	ENST00000263686.6	-	14	2406	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	SELP_ENST00000367792.2_Missense_Mutation_p.T606M|SELP_ENST00000367788.2_Missense_Mutation_p.T728M|SELP_ENST00000367794.2_Missense_Mutation_p.T728M|SELP_ENST00000458599.2_Missense_Mutation_p.T606M|SELP_ENST00000367793.2_Missense_Mutation_p.T728M|SELP_ENST00000367791.2_Missense_Mutation_p.T604M|SELP_ENST00000367786.2_Missense_Mutation_p.T728M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	790					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGCCAGGAGCGTCCCACCCAT	0.418000													13	129					0	0	0.479597	0	0
NCK2	8440	broad.mit.edu	37	2	106498084	106498084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:106498084C>G	ENST00000233154.4	+	4	969	c.527C>G	c.(526-528)tCc>tGc	p.S176C	NCK2_ENST00000393349.2_Missense_Mutation_p.S176C|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	176					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.S176C(1)		endometrium(1)|lung(3)|ovary(1)	5						GCTGCGGAGTCCCCAAGCTTC	0.657000													6	27					0	0	0.278610	0	0
PIWIL4	143689	broad.mit.edu	37	11	94330994	94330994	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:94330994A>G	ENST00000299001.6	+	11	1504	c.1293A>G	c.(1291-1293)ctA>ctG	p.L431L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.L431L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTTTGAACTAGAGACCTGGG	0.383000													42	88					0	0	0.870114	0	0
KLHL14	57565	broad.mit.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						cytosol|endoplasmic reticulum membrane		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378000													26	191					0	0	0.750413	0	0
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30649288C>A	ENST00000389266.3	+	7	1064	c.823C>A	c.(823-825)Cca>Aca	p.P275T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.P275T(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCTATCCCCTCCAGTGTCTTT	0.358000													20	47					3.10358e-05	3.24093e-05	0.624587	1	0
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247695646G>T	ENST00000366487.3	-	2	529	c.168C>A	c.(166-168)ctC>ctA	p.L56L	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493000													74	90					5.01443e-46	6.60315e-46	0.870114	1	0
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1418261A>G	ENST00000345913.4	+	2	172	c.81A>G	c.(79-81)aaA>aaG	p.K27K	TPO_ENST00000382269.3_Silent_p.K27K|TPO_ENST00000539820.1_Silent_p.K27K|TPO_ENST00000382198.1_Silent_p.K27K|TPO_ENST00000382201.3_Silent_p.K27K|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.K27K|TPO_ENST00000329066.4_Silent_p.K27K|TPO_ENST00000337415.3_Silent_p.K27K|TPO_ENST00000349624.3_Silent_p.K27K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	27					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.K27K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGAGAGGGAAAGAACTCCTTT	0.458000													5	12					0	0	0.217242	0	0
ZNF160	90338	broad.mit.edu	37	19	53572843	53572843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53572843C>A	ENST00000601421.1	-	3	1712	c.836G>T	c.(835-837)tGt>tTt	p.C279F	ZNF160_ENST00000418871.1_Missense_Mutation_p.C315F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C315F|ZNF160_ENST00000429604.1_Missense_Mutation_p.C315F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	315					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C315F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATGACATTTGTAAGG	0.413000													36	208					5.59293e-11	6.27008e-11	0.827153	1	0
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90039433G>A	ENST00000435041.2	-	8	1200	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.L308L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCGTTTGCCAGATATATTCGT	0.403000													69	66					0	0	0.870114	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044714	184044714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184044714C>G	ENST00000342981.4	+	22	3788	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.S1124*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.S1037*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.S961*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.S1038*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.S1085*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.S928*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.S929*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.S1084*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.S960*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.S1124*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.S1131*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1124					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S1124*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCTTCTCAGCCCTTCAA	0.463000													7	107					0	0	0.278610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37121587	37121587	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37121587G>A	ENST00000262879.6	+	3	485	c.201G>A	c.(199-201)atG>atA	p.M67I	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.M67I|RALGAPB_ENST00000397040.1_Missense_Mutation_p.M67I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.M67I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	67					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.M67I(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATGGACCATGGAAGTAATTT	0.348000													59	154					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:216348824G>A	ENST00000366943.2	-	21	4783	c.4396_splice	c.e21-1	p.A1466_splice	USH2A_ENST00000366942.3_Splice_Site_p.A1466_splice|USH2A_ENST00000307340.3_Splice_Site_p.A1466_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1466					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1466V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGCTGGTGCTAAATATTA	0.373000										HNSCC(13;0.011)			72	64					0	0	0.870114	0	0
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:15268584T>C	ENST00000546332.1	-	6	1019	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.Q179R|ASB9_ENST00000380488.4_Missense_Mutation_p.Q179R|ASB9_ENST00000380483.3_Missense_Mutation_p.Q169R	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	179					intracellular signal transduction			p.Q179R(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTCTCTGTTGGTTTTC	0.403000													24	65					0	0	0.729181	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:124676442G>T	ENST00000368417.1	+	3	282	c.222G>T	c.(220-222)acG>acT	p.T74T	NKAIN2_ENST00000368416.1_Silent_p.T74T|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Silent_p.T74T|NKAIN2_ENST00000545433.1_Silent_p.T59T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	74						integral to membrane|plasma membrane		p.T74T(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCTGGGTTACGTGGAATGTGT	0.388000													127	236					2.91622e-83	4.00604e-83	0.870114	1	0
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:1056458C>A	ENST00000382251.3	+	5	1200	c.871C>A	c.(871-873)Cca>Aca	p.P291T	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P291T|DMRT2_ENST00000302441.6_Missense_Mutation_p.P291T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	291					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P291T(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAGCCCCAGCCCAGTGGAACC	0.483000													15	88					2.94398e-08	3.19751e-08	0.557998	1	0
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599591G>C	ENST00000403807.3	+	2	419	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	VPREB1_ENST00000302273.2_Missense_Mutation_p.A93P			P12018	VPREB_HUMAN	pre-B lymphocyte 1	94	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CAAAGATGTGGCCAGGAACAG	0.592000													28	48					0	0	0.750413	0	0
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:203455883C>T	ENST00000343110.2	+	3	1150	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	341					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D341D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTTCCATGACTTCTCCTCGG	0.562000													38	63					0	0	0.847076	0	0
PIGZ	80235	broad.mit.edu	37	3	196675122	196675122	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:196675122G>A	ENST00000412723.1	-	3	792	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637000													8	54					0	0	0.435327	0	0
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76211508C>T	ENST00000298832.9	+	16	1557	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TTLL5_ENST00000557636.1_Missense_Mutation_p.P465L|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_5'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.P451L(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGAAAGGGCCAGGGAAGTTG	0.453000													88	120					0	0	0.870114	0	0
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156618623C>T	ENST00000329117.4	+	6	1369	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	BCAN_ENST00000361588.5_Missense_Mutation_p.H345Y|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	345	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.H345Y(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAATAAGCACAGCCGCTT	0.577000													109	92					0	0	0.870114	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763799	14763799	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:14763799G>T	ENST00000358984.4	+	7	1115	c.935G>T	c.(934-936)gGa>gTa	p.G312V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.G312V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	312								p.G312V(4)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTGGTGGAGGGAACGTCTGCC	0.483000													5	11					0.00116845	0.00119792	0.217242	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:89265822C>G	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													37	180					0	0	0.847076	0	0
GPR149	344758	broad.mit.edu	37	3	154138855	154138855	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:154138855C>A	ENST00000389740.2	-	3	1695	c.1596G>T	c.(1594-1596)agG>agT	p.R532S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	532						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R532S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGATTTACTCCTACACCACT	0.368000													8	31					0.00829132	0.00841207	0.361761	1	0
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179599169A>T	ENST00000589042.1	-	52	15606	c.15382T>A	c.(15382-15384)Tct>Act	p.S5128T	TTN_ENST00000342992.6_Missense_Mutation_p.S3884T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4811T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4811	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3884T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGAGACTTCTGAGAA	0.393000													58	240					0	0	0.870114	0	0
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:41410526A>G	ENST00000551295.2	+	19	2344	c.2227A>G	c.(2227-2229)Ata>Gta	p.I743V	CNTN1_ENST00000348761.2_Missense_Mutation_p.I732V|CNTN1_ENST00000347616.1_Missense_Mutation_p.I743V|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	743	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I743V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTTGGTTACATAGTGGCATT	0.363000													84	146					0	0	0.870114	0	0
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40280324C>A	ENST00000393860.3	-	5	712	c.396G>T	c.(394-396)gcG>gcT	p.A132A	RAB5C_ENST00000547517.1_Silent_p.A165A|CTD-2132N18.3_ENST00000592574.1_Silent_p.A132A|RAB5C_ENST00000346213.4_Silent_p.A132A	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.A132A(2)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTTGTTACCCGCGAGTGCAA	0.587000													25	194					3.65163e-15	4.2132e-15	0.706142	1	0
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:49754596G>C	ENST00000304801.3	-	1	457	c.305C>G	c.(304-306)gCa>gGa	p.A102G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.A102G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACTTCTGCGCCTACACA	0.532000													156	114					0	0	0.870114	0	0
GGH	8836	broad.mit.edu	37	8	63930053	63930053	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:63930053T>C	ENST00000260118.6	-	8	1236	c.835_splice	c.e8+1	p.E278_splice		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	278	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E278E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATATTACCTTCATTAACAA	0.358000													23	156					0	0	0.667858	0	0
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:656540C>A	ENST00000380907.2	-	1	423	c.405G>T	c.(403-405)cgG>cgT	p.R135R	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	135								p.R135R(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGGGAAGCACCCGCACGGGCA	0.731000													20	13					5.43694e-19	6.46161e-19	0.812448	1	0
SCAF11	9169	broad.mit.edu	37	12	46321290	46321290	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:46321290C>G	ENST00000465950.1	-	1	2458	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	SCAF11_ENST00000419565.2_Missense_Mutation_p.E732Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E732Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E540Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	732					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCAACTTCAGATTCATTT	0.348000													14	361					0	0	0.457914	0	0
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56380893C>A	ENST00000526538.1	-	1	85	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G29V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGAATACCCCAAACAGGAT	0.473000													86	300					3.33393e-45	4.37447e-45	0.870114	1	0
TMTC3	160418	broad.mit.edu	37	12	88588674	88588674	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:88588674C>T	ENST00000266712.6	+	14	2213	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	666						integral to membrane	binding	p.P665S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAATGAAGAGCCACTAGATGC	0.323000													18	112					0	0	0.667858	0	0
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3651249C>G	ENST00000263087.4	-	17	2220	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	708					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E708Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGATTTCAAAACATAAA	0.542000													3	43					0	0	0.115264	0	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56140121C>G	ENST00000319441.4	+	9	1508	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.L131L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000													38	123					0	0	0.870114	0	0
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57649865C>G	ENST00000269834.1	-	3	502	c.117G>C	c.(115-117)gaG>gaC	p.E39D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGTAATTCTCCAGCATCA	0.547000													51	305					0	0	0.870114	0	0
RGS12	6002	broad.mit.edu	37	4	3424297	3424297	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:3424297G>T	ENST00000336727.3	+	11	3937	c.3033_splice	c.e11+1	p.K1011_splice	RGS12_ENST00000538395.1_Splice_Site_p.K353_splice|RGS12_ENST00000344733.5_Splice_Site_p.K1011_splice|RGS12_ENST00000338806.4_Splice_Site_p.K363_splice|RGS12_ENST00000306648.7_Splice_Site_p.K409_splice|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Splice_Site_p.K1011_splice	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1011	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.K1011N(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGGACAAGGTACTGGGCC	0.677000													2	0					0.004672	0.00474333	0.115264	1	0
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125453184C>A	ENST00000308736.2	-	10	1402	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DHX37_ENST00000544745.1_Missense_Mutation_p.R222M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R435M(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGGAACTGCCTGGATTCCAC	0.602000													21	48					1.32003e-05	1.38338e-05	0.693898	1	0
CENPE	1062	broad.mit.edu	37	4	104067129	104067129	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:104067129G>C	ENST00000265148.3	-	30	4359	c.4270C>G	c.(4270-4272)Ctc>Gtc	p.L1424V	CENPE_ENST00000380026.3_Missense_Mutation_p.L1399V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1424					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GACAATCCGAGCATTTCTATT	0.363000													31	125					0	0	0.788014	0	0
FOLR3	2352	broad.mit.edu	37	11	71850011	71850011	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71850011G>C	ENST00000445078.2	+	3	366	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	FOLR3_ENST00000456237.1_Missense_Mutation_p.V101L|FOLR3_ENST00000442948.2_Missense_Mutation_p.S58T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	79					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAGTGCAGTCCCTGGAAG	0.572000													7	45					0	0	0.278610	0	0
RNF213	57674	broad.mit.edu	37	17	78265440	78265440	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78265440G>C	ENST00000582970.1	+	8	1428	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	RNF213_ENST00000456466.1_Missense_Mutation_p.D429H|RNF213_ENST00000319921.4_Missense_Mutation_p.D429H|RNF213_ENST00000508628.2_Missense_Mutation_p.D478H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	429								p.D429H(4)|p.D478H(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTGGGTCATGACCGCGTTCT	0.408000													42	349					0	0	0.870114	0	0
SOS1	6654	broad.mit.edu	37	2	39278356	39278356	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39278356C>T	ENST00000426016.1	-	7	879	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SOS1_ENST00000428721.2_Missense_Mutation_p.D208N|SOS1_ENST00000395038.2_Missense_Mutation_p.D265N|SOS1_ENST00000402219.2_Missense_Mutation_p.D265N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	265	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.D265N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTACTGTATCTTCTATATGG	0.373000									Noonan syndrome				21	173					0	0	0.654019	0	0
FER1L5	90342	broad.mit.edu	37	2	97368993	97368993	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:97368993C>T	ENST00000457909.1	+	0	5104							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.I1903I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTATTTCATCCAATACAAGC	0.572000													23	91					0	0	0.624587	0	0
ACP5	54	broad.mit.edu	37	19	11687568	11687568	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11687568A>T	ENST00000592828.1	-	5	754	c.352T>A	c.(352-354)Tct>Act	p.S118T	ACP5_ENST00000412435.2_Missense_Mutation_p.S118T|ACP5_ENST00000218758.5_Missense_Mutation_p.S118T|ACP5_ENST00000433365.2_Missense_Mutation_p.S118T|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATCTGGGCAGAGACATTGCCA	0.567000													23	76					0	0	0.717897	0	0
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:36614834G>T	ENST00000311485.3	-	2	1046	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	295					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.N295K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCTATCTTGTTGTCCTCTA	0.388000									Familial Hemophagocytic Lymphohistiocytosis				122	420					5.38838e-72	7.31959e-72	0.870114	1	0
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:39448475G>A	ENST00000257408.4	+	4	2226	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	710	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G710E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCTACGGGGCGGCGCAC	0.657000													14	33					0	0	0.520397	0	0
PLS1	5357	broad.mit.edu	37	3	142388273	142388273	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:142388273G>T	ENST00000337777.3	+	3	325	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	PLS1_ENST00000497002.1_Missense_Mutation_p.D38Y|PLS1_ENST00000457734.2_Missense_Mutation_p.D38Y	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D38Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGAACTTCAAGACCTGTTTAA	0.368000													59	214					3.00467e-41	3.91436e-41	0.870114	1	0
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:73962875A>C	ENST00000358602.4	-	27	5252	c.5136T>G	c.(5134-5136)cgT>cgG	p.R1712R	ANKRD17_ENST00000509867.2_Silent_p.R1599R|ANKRD17_ENST00000330838.6_Silent_p.R1461R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.R1712R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTTGCCCACGCTTAGGAC	0.388000													282	494					0	0	0.870114	0	0
GHDC	84514	broad.mit.edu	37	17	40341788	40341788	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40341788G>T	ENST00000301671.8	-	9	1967	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H	GHDC_ENST00000428494.2_Missense_Mutation_p.P470H|GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000587427.1_Missense_Mutation_p.P509H			Q8N2G8	GHDC_HUMAN	GH3 domain containing	509						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGCATCGCAGGGGGGAAGGG	0.721000													2	0					0.0784	0.0788853	0.115264	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77617456G>T	ENST00000521891.2	+	2	1581	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G378V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G378V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G378V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G378V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCCGGCTGGCTTTGCCTTC	0.522000										HNSCC(33;0.089)			12	16					4.3838e-07	4.68139e-07	0.435327	1	0
SH3BP4	23677	broad.mit.edu	37	2	235962399	235962399	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235962399C>T	ENST00000409212.1	+	6	3338	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	SH3BP4_ENST00000344528.4_Missense_Mutation_p.S944F|SH3BP4_ENST00000392011.2_Missense_Mutation_p.S944F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	944					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.S944F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTGAACTCCCTGGACGTT	0.597000													24	172					0	0	0.729181	0	0
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76216217A>T	ENST00000370841.4	+	10	1368	c.931A>T	c.(931-933)Aag>Tag	p.K311*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.K122*|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Nonsense_Mutation_p.K344*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.K275*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.K315*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	311					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.K311*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AACTTTCGGAAAGCTACTTGT	0.333000													8	48					0	0	0.335167	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128651782G>A	ENST00000281154.4	+	1	250	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	28					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.G28R(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCTGGCCGGCGGAGTCGCGGC	0.602000													36	29					0	0	0.870114	0	0
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15366997C>G	ENST00000263377.2	-	9	1850	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	BRD4_ENST00000371835.4_Missense_Mutation_p.K543N|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.K543N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	543	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.K543N(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tcttttccttcttgtctttct	0.433000			T	C15orf55	lethal midline carcinoma of young people								3	16					0	0	0.115264	0	0
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75565368G>C	ENST00000299641.4	-	9	2324	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512000													3	31					0	0	0.150653	0	0
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50549823G>A	ENST00000595661.1	+	6	2618	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	ZNF473_ENST00000270617.3_Missense_Mutation_p.G708E|ZNF473_ENST00000445728.3_Missense_Mutation_p.G696E|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G708E|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.G708E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AACGAATGCGGGAAAACGTTC	0.483000													30	187					0	0	0.779181	0	0
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:121098917G>A	ENST00000453000.1	+	5	1303	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CABP1_ENST00000316803.3_Missense_Mutation_p.R328Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R125Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R185Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	328	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.R185Q(2)|p.R328Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGAGCTGCGAGAGGCTATG	0.542000													19	89					0	0	0.592651	0	0
C12orf44	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52467573A>G	ENST00000336854.4	+	3	617	c.139A>G	c.(139-141)Att>Gtt	p.I47V		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	47				I -> T (in Ref. 1; BAB13907).	autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	p.I47V(3)		endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACCTACTCCATTGGCACCGT	0.587000													17	23					0	0	0.539581	0	0
JAK1	3716	broad.mit.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65321352C>G	ENST00000342505.4	-	11	1736	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGAAAGTTCTTGAACTGCT	0.502000			Mis		ALL								4	33					0	0	0.217242	0	0
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:4747357T>C	ENST00000545990.2	-	4	530	c.6A>G	c.(4-6)tcA>tcG	p.S2S	AKAP3_ENST00000228850.1_Silent_p.S2S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S2S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAACCTTTTCTGACATCTGGA	0.428000													63	253					0	0	0.870114	0	0
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:99997442C>T	ENST00000520429.1	-	9	985	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CCNC_ENST00000523799.1_Silent_p.V95V|CCNC_ENST00000369220.4_Silent_p.V179V|CCNC_ENST00000523985.1_Silent_p.V95V|CCNC_ENST00000518714.1_Silent_p.V180V|CCNC_ENST00000520371.1_Silent_p.V180V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	180					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.V180V(2)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGTATCATTCACTATCCTCC	0.363000													33	144					0	0	0.796494	0	0
EEPD1	80820	broad.mit.edu	37	7	36336752	36336752	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36336752T>C	ENST00000242108.4	+	7	2184	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P	EEPD1_ENST00000534978.1_Missense_Mutation_p.L489P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	489					DNA repair		DNA binding	p.L489P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCGAAGTCTCTGGACAACATC	0.463000													58	124					0	0	0.870114	0	0
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:169632775G>T	ENST00000366787.3	-	13	2165	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	639	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.A639D(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCGTCTTGGCTGCTTCCAG	0.597000													14	21					5.03518e-11	5.65347e-11	0.557998	1	0
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31011704C>T	ENST00000409316.1	+	4	481	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GHRHR_ENST00000326139.2_Silent_p.F197F|GHRHR_ENST00000409904.3_Silent_p.F133F|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	235					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.F197F(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACTGCAGCTTCTCCACTGTAA	0.582000													7	34					0	0	0.278610	0	0
CEP152	22995	broad.mit.edu	37	15	49059596	49059596	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49059596C>T	ENST00000380950.2	-	16	2270	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CEP152_ENST00000325747.5_Missense_Mutation_p.A602T|CEP152_ENST00000399334.3_Missense_Mutation_p.A695T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	695					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGCTTTGCTAATAGGCTT	0.438000													46	107					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110457536G>A	ENST00000378402.5	+	38	5542	c.5438G>A	c.(5437-5439)aGt>aAt	p.S1813N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1813	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1815N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTGTTAGTGTTGTGGTG	0.468000										HNSCC(38;0.096)			90	210					0	0	0.870114	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241439489C>A	ENST00000391987.1	-	15	2791	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E570*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E898*|ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E579*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E809*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E585*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E711*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E588*			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							zinc ion binding	p.E809*(2)|p.E585*(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGAACGTCTCGCGCTCTGCT	0.677000													5	4					0.00198382	0.00202394	0.248553	1	0
MYH4	4622	broad.mit.edu	37	17	10361031	10361031	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10361031A>G	ENST00000255381.2	-	16	1713	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	535	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S535P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTAGGATGGAGAAGATGCCC	0.403000													40	236					0	0	0.870114	0	0
EP400	57634	broad.mit.edu	37	12	132546780	132546780	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:132546780C>T	ENST00000333577.4	+	47	8227	c.8118C>T	c.(8116-8118)gtC>gtT	p.V2706V	EP400_ENST00000389562.2_Silent_p.V2669V|EP400_ENST00000332482.4_Silent_p.V2633V|EP400_ENST00000389561.2_Silent_p.V2670V|EP400_ENST00000330386.6_Silent_p.V2589V			Q96L91	EP400_HUMAN	E1A binding protein p400	2706	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2669V(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)		TTCGAGCGGTCACTTCTGTGA	0.662000													18	134					0	0	0.608945	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:21971203A>C	ENST00000579755.1	-	2	490	c.198T>G	c.(196-198)caT>caG	p.H66Q	CDKN2A_ENST00000498628.2_Start_Codon_SNP_p.M1R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H107Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.H66Q|CDKN2A_ENST00000494262.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000497750.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000304494.5_Missense_Mutation_p.M52R|CDKN2A_ENST00000479692.2_Start_Codon_SNP_p.M1R			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> Y (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M52K(4)|p.M52R(4)|p.M52fs*2(3)|p.H107Q(2)|p.0(1)|p.V28_V51del(1)|p.H107fs*>68(1)|p.M52fs*68(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCATCATCATGACCTGCCA	0.672000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	4					0	0	0.217242	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357336	49357336	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49357336C>G	ENST00000263265.6	-	11	1659	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	PLEKHA4_ENST00000355496.5_Silent_p.L343L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	368						cytoplasm|membrane	1-phosphatidylinositol binding	p.L368L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ACAACTTGGTCAGCAGCGTCT	0.617000													3	37					0	0	0.150653	0	0
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43223121C>T	ENST00000255226.6	+	9	1967	c.1151C>T	c.(1150-1152)gCa>gTa	p.A384V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A384V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	384						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A384V(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACATGGAAGCAGCCATCTCC	0.542000													35	167					0	0	0.864702	0	0
SCRN3	79634	broad.mit.edu	37	2	175260500	175260500	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175260500A>T	ENST00000409673.3	+	1	28	c.16A>T	c.(16-18)Act>Tct	p.T6S	SCRN3_ENST00000272732.6_5'UTR			Q0VDG4	SCRN3_HUMAN	secernin 3	12					proteolysis		dipeptidase activity	p.T6S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TCCACTGGCCACTCCTCCCTC	0.612000													3	1					0	0	0.184627	0	0
CES4A	283848	broad.mit.edu	37	16	67034819	67034819	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:67034819C>G	ENST00000540947.2	+	4	646	c.462C>G	c.(460-462)ggC>ggG	p.G154G	CES4A_ENST00000326686.5_Silent_p.G154G|CES4A_ENST00000535696.1_Silent_p.G56G|CES4A_ENST00000540579.1_Silent_p.G56G|CES4A_ENST00000398354.1_Silent_p.G154G|CES4A_ENST00000338718.4_Silent_p.G177G|CES4A_ENST00000541479.1_Silent_p.G177G	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	154						extracellular region	carboxylesterase activity	p.G154G(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CGTACGAGGGCTCTGACTTGG	0.662000													5	7					0	0	0.248553	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60699590G>T	ENST00000005286.4	+	7	1503	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q449H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	449						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q450H(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAACACACAGGTCCTGCAGG	0.622000													12	24					7.93312e-07	8.44698e-07	0.457914	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530479	140530479	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140530479T>A	ENST00000231136.1	+	1	641	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L78Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L214Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGCGCTGGATGGCGGG	0.597000													9	30					0	0	0.411799	0	0
DERA	51071	broad.mit.edu	37	12	16189195	16189195	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:16189195C>A	ENST00000428559.2	+	8	992	c.780C>A	c.(778-780)cgC>cgA	p.R260R	DERA_ENST00000526530.1_Silent_p.R172R|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Silent_p.R217R	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	260					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GAGGCATCCGCAGTGCAAAGG	0.423000													3	46					0.004672	0.00474333	0.115264	1	0
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14939210C>T	ENST00000313519.5	+	2	594	c.363C>T	c.(361-363)atC>atT	p.I121I	SUV39H2_ENST00000354919.6_Silent_p.I181I|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	181					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	p.I121I(1)|p.I181I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTCCTGGAATCAGCTTAGTCA	0.363000													27	95					0	0	0.750413	0	0
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599589T>G	ENST00000403807.3	+	2	417	c.278T>G	c.(277-279)gTg>gGg	p.V93G	VPREB1_ENST00000302273.2_Missense_Mutation_p.V92G			P12018	VPREB_HUMAN	pre-B lymphocyte 1	93	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.V93G(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCAAAGATGTGGCCAGGAAC	0.592000													29	47					0	0	0.760397	0	0
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211047G>A	ENST00000357398.3	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E1089K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTCGTGGATGAAAGTGATTA	0.373000													43	323					0	0	0.870114	0	0
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:15517098G>C	ENST00000382020.4	+	4	717	c.509G>C	c.(508-510)aGa>aCa	p.R170T	TUSC3_ENST00000509380.1_Missense_Mutation_p.R170T|TUSC3_ENST00000506802.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.R170T	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	170					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R170T(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GACCTCCAAAGAATTGGATTT	0.393000													20	101					0	0	0.639603	0	0
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:217234937C>T	ENST00000273067.4	-	1	1813	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	16						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.C16Y(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGCCGGAGCAGCAGCACCA	0.617000													5	8					0	0	0.248553	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205667	36205667	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36205667C>T	ENST00000392197.2	+	3	457	c.139C>T	c.(139-141)Cta>Tta	p.L47L	ZBTB32_ENST00000262630.3_Silent_p.L47L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	47	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.L47L(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGTGCTAGCAGGTGT	0.622000													6	19					0	0	0.248553	0	0
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14077445C>T	ENST00000254325.4	-	13	2085	c.1851_splice	c.e13+1	p.E617_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	617					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E617E(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCACCCTACCTCACAGTGTT	0.677000													3	5					0	0	0.115264	0	0
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:48758546A>C	ENST00000218224.4	+	2	401	c.147A>C	c.(145-147)ccA>ccC	p.P49P	PQBP1_ENST00000376548.5_Silent_p.P49P|PQBP1_ENST00000376563.1_Silent_p.P49P|PQBP1_ENST00000376566.4_Silent_p.P49P|PQBP1_ENST00000247140.4_Silent_p.P49P|PQBP1_ENST00000447146.2_Silent_p.P49P|PQBP1_ENST00000396763.1_Silent_p.P49P|PQBP1_ENST00000473764.1_3'UTR	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	p.P49P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AGGGCCTACCACCAAGCTGGT	0.557000													4	16					0	0	0.150653	0	0
CFHR2	3080	broad.mit.edu	37	1	196928128	196928128	+	Missense_Mutation	SNP	G	G	C	rs144918980		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:196928128G>C	ENST00000367415.4	+	5	845	c.731G>C	c.(730-732)gGa>gCa	p.G244A	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.G244A	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	244	Sushi 4.					extracellular region		p.G244A(1)|p.G244E(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGTAAATCTGGATATCATCCA	0.308000													18	82					0	0	0.639603	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422835	1422835	+	Silent	SNP	C	C	T	rs145829351	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1422835C>T	ENST00000381524.3	+	11	1152	c.966C>T	c.(964-966)ctC>ctT	p.L322L	CSF2RA_ENST00000417535.2_Silent_p.L356L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.L189L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000381529.3_Silent_p.L322L|CSF2RA_ENST00000381509.3_Silent_p.L322L|CSF2RA_ENST00000432318.2_Silent_p.L322L|CSF2RA_ENST00000361536.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	322						extracellular region|integral to plasma membrane	cytokine receptor activity	p.L322L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGGGAACCTCGGCTCTGTGT	0.507000													7	140					0	0	0.307466	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:24359024G>T	ENST00000175238.6	+	20	2226	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G487*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G715*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000													75	138					6.09681e-45	7.9925e-45	0.870114	1	0
LINC01098	285501	broad.mit.edu	37	4	178897030	178897030	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:178897030C>T	ENST00000507870.1	+	5	695	c.233C>T	c.(232-234)tCa>tTa	p.S78L															p.S78L(4)		lung(8)|prostate(1)	9						TTGAGCAAGTCAATGTATGTT	0.403000													40	126					0	0	0.864702	0	0
UBR4	23352	broad.mit.edu	37	1	19404343	19404343	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:19404343T>C	ENST00000375267.2	-	105	15328		c.e105-2		UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000375225.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000543981.1_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTTTGTTTCTAGGAAAAAAG	0.517000													3	4					0	0	0.115264	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717313G>T	ENST00000279593.3	-	13	3068	c.2859C>A	c.(2857-2859)ccC>ccA	p.P953P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	953					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P953P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTCCTCACAGGGCGGGTTGT	0.547000													69	149					5.60822e-65	7.56206e-65	0.870114	1	0
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56949837G>C	ENST00000497933.1	+	1	617	c.470G>C	c.(469-471)cGc>cCc	p.R157P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127						integral to membrane		p.R157P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGCCAAGCGCTTGGCACAC	0.577000													7	14					0	0	0.278610	0	0
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:135651315G>T	ENST00000513104.1	-	3	1215	c.933C>A	c.(931-933)atC>atA	p.I311I	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	311					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.I311I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCGAGTTTGATCCGGCTCA	0.517000													21	67					6.12954e-19	7.27882e-19	0.681144	1	0
CYP3A7	1551	broad.mit.edu	37	7	99318002	99318002	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99318002G>A	ENST00000336374.2	-	4	254	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	84					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I84I(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CGGGATCTGTGATAGCCAGCA	0.403000													40	882					0	0	0.796494	0	0
USP1	7398	broad.mit.edu	37	1	62910485	62910485	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:62910485C>G	ENST00000339950.4	+	6	1449	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	USP1_ENST00000371146.1_Missense_Mutation_p.Q212E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	212					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q212E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAAACATTCAAGAAACATG	0.338000													11	35					0	0	0.361761	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54675174C>G	ENST00000546500.1	+	2	635	c.20C>G	c.(19-21)cCt>cGt	p.P7R	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P7R|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P7R|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P7R			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.P7R(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTCTAGTCTCCTAAAGAGCCC	0.483000													9	60					0	0	0.361761	0	0
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31538717G>A	ENST00000286808.3	-	1	254	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	73					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L73L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGCAGGCGGGAGAGCCAACA	0.552000													36	95					0	0	0.853193	0	0
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:31425212T>G	ENST00000373747.3	-	16	2694		c.e16-2		PUM1_ENST00000423018.2_Splice_Site|PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000440538.2_Splice_Site|PUM1_ENST00000257075.5_Splice_Site|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000373741.4_Splice_Site	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGAATGAATCTGAAGTACAAA	0.473000													43	114					0	0	0.870114	0	0
UFL1	23376	broad.mit.edu	37	6	96997630	96997630	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:96997630G>T	ENST00000369278.4	+	15	1839	c.1773G>T	c.(1771-1773)tcG>tcT	p.S591S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									TCTTAGCTTCGGATTTAATGA	0.398000													165	288					7.82335e-77	1.06768e-76	0.870114	1	0
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21723442G>A	ENST00000328843.6	+	33	5553	c.5522G>A	c.(5521-5523)cGt>cAt	p.R1841H	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443000									Kartagener syndrome				97	1126					0	0	0.870114	0	0
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30667605G>C	ENST00000534862.1	+	7	760	c.397G>C	c.(397-399)Gac>Cac	p.D133H	HCK_ENST00000375852.2_Missense_Mutation_p.D153H|HCK_ENST00000538448.1_Missense_Mutation_p.D132H|HCK_ENST00000375862.2_Missense_Mutation_p.D152H|HCK_ENST00000520553.1_Missense_Mutation_p.D132H|HCK_ENST00000518730.1_Missense_Mutation_p.D131H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	153	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D153H(2)|p.D132H(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCCGGAAGGACGCAGAGCG	0.587000													8	37					0	0	0.335167	0	0
HGD	3081	broad.mit.edu	37	3	120352002	120352002	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:120352002C>A	ENST00000283871.5	-	13	1639	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	394					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.G394C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCATGGTGCCATCGGCAATC	0.542000													22	89					3.08376e-08	3.34188e-08	0.654019	1	0
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	T	G	rs142691296		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57958297T>G	ENST00000325752.3	-	4	772	c.495A>C	c.(493-495)tcA>tcC	p.S165S	TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Silent_p.S165S|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Silent_p.S165S|TUBD1_ENST00000592426.1_Silent_p.S165S|TUBD1_ENST00000394239.3_Silent_p.S165S|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.S165S(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTTTCAATGAGTTTGAGT	0.343000													112	252					0	0	0.870114	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828349	94828349	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:94828349C>T	ENST00000285949.5	+	6	1464	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	488					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.A488A(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCACACCCGCCTTCCCCGCCA	0.692000													2	2					0	0	0.115264	0	0
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70681521T>G	ENST00000377844.4	-	1	1070	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	104					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q104P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCCCTTGCTGCAGCCTCGT	0.597000													22	21					0	0	0.681144	0	0
ZNF713	349075	broad.mit.edu	37	7	55990965	55990965	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55990965G>C	ENST00000429591.2	+	2	197	c.159G>C	c.(157-159)agG>agC	p.R53S	MRPS17_ENST00000426595.1_Missense_Mutation_p.R53S|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGAACTACAGGAATCTAGTTG	0.512000													136	385					0	0	0.870114	0	0
CTSK	1513	broad.mit.edu	37	1	150772099	150772099	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150772099C>T	ENST00000271651.3	-	6	815	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	235					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	p.L235L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCTCTTCAGGGCTTTCT	0.517000													15	379					0	0	0.500413	0	0
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22807148G>T	ENST00000361524.3	-	4	882	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ZNF521_ENST00000584787.1_Missense_Mutation_p.T25N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T245N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.T245N(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACTTCTGAGTGTCCTTCAT	0.532000			T	PAX5	ALL								110	228					3.85429e-70	5.22598e-70	0.870114	1	0
EPYC	1833	broad.mit.edu	37	12	91365646	91365646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:91365646G>T	ENST00000261172.3	-	5	725	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	211					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.T211K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ATGTCAAAGTGGTTGGCAATT	0.368000													23	38					6.32553e-13	7.20736e-13	0.681144	1	0
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:75107651G>A	ENST00000290573.2	+	10	2125	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	HK2_ENST00000409174.1_Missense_Mutation_p.V481I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAGTGCCCCCGTCAAGATGCT	0.597000													14	80					0	0	0.479597	0	0
TTN	7273	broad.mit.edu	37	2	179640848	179640848	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179640848C>G	ENST00000589042.1	-	28	5967	c.5743G>C	c.(5743-5745)Gaa>Caa	p.E1915Q	TTN_ENST00000342992.6_Missense_Mutation_p.E1915Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1869Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1869Q|TTN_ENST00000591111.1_Missense_Mutation_p.E1915Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1915Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1869Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1633	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1915Q(3)|p.E1869Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGATTTTCCGCGGTGACC	0.463000													118	715					0	0	0.870114	0	0
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:31089993C>T	ENST00000359202.3	-	1	177	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627000													23	48					0	0	0.740014	0	0
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:193364866A>G	ENST00000361510.2	+	19	2001	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	OPA1_ENST00000361715.2_Silent_p.L553L|OPA1_ENST00000361908.3_Silent_p.L571L|OPA1_ENST00000361150.2_Silent_p.L535L|OPA1_ENST00000361828.2_Silent_p.L552L|OPA1_ENST00000392438.3_Silent_p.L534L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	534			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.L589L(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAGCATGCTAAAGGCACACC	0.368000													86	50					0	0	0.870114	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886918	47886918	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:47886918G>C	ENST00000396105.1	-	3	1677	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	ZNFX1_ENST00000371754.4_Silent_p.L477L|ZNFX1_ENST00000371752.1_Silent_p.L477L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	477							metal ion binding	p.L477L(2)|p.L281L(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTCGGCAGAGATCTTCCT	0.483000													42	136					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475993	25475993	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:25475993G>T	ENST00000453082.2	+	0	1523				SNORD115-33_ENST00000363723.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCG	0.537000													10	78					3.07112e-06	3.24173e-06	0.387290	1	0
NCAM1	4684	broad.mit.edu	37	11	113103046	113103046	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113103046C>G	ENST00000316851.7	+	10	1365	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NCAM1_ENST00000533760.1_Missense_Mutation_p.I337M|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I464M	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	465	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.I464M(2)|p.I455M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATATCAAGATCTACAACACCC	0.527000													14	206					0	0	0.539581	0	0
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143928027C>T	ENST00000220940.1	+	4	488	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	133	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P133L(3)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGCTTCCAGAAGGAACT	0.463000													48	118					0	0	0.870114	0	0
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5463332C>T	ENST00000345221.3	-	4	1238	c.684G>A	c.(682-684)gaG>gaA	p.E228E	NLRP1_ENST00000262467.5_Silent_p.E228E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.E228E|NLRP1_ENST00000354411.3_Silent_p.E228E|NLRP1_ENST00000577119.1_Silent_p.E228E|NLRP1_ENST00000572272.1_Silent_p.E228E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488000													3	21					0	0	0.248553	0	0
SDK2	54549	broad.mit.edu	37	17	71427711	71427711	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71427711C>T	ENST00000392650.3	-	11	1410	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	SDK2_ENST00000388726.3_Silent_p.A470A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	470	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)|p.A470A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGTAGGTCCCCGCATCGGAGA	0.632000													23	63					0	0	0.681144	0	0
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53042001C>A	ENST00000309680.3	-	5	1099	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572000													176	406					4.6482e-75	6.33767e-75	0.870114	1	0
MNAT1	4331	broad.mit.edu	37	14	61201638	61201638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:61201638A>T	ENST00000261245.4	+	1	159	c.58A>T	c.(58-60)Aag>Tag	p.K20*	MNAT1_ENST00000555545.1_3'UTR|MNAT1_ENST00000539616.2_Nonsense_Mutation_p.K20*	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	20					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.K20*(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CCCCTCCTTGAAGCTGATGGT	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					19	210					0	0	0.693898	0	0
RBM47	54502	broad.mit.edu	37	4	40440598	40440598	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40440598C>G	ENST00000319592.4	-	4	1022	c.313G>C	c.(313-315)Gac>Cac	p.D105H	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.D105H|RBM47_ENST00000514014.1_Missense_Mutation_p.D67H|RBM47_ENST00000381795.6_Missense_Mutation_p.D105H|RBM47_ENST00000295971.7_Missense_Mutation_p.D105H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	105	RRM 1.					nucleus	nucleotide binding|RNA binding	p.D105H(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGTCAAAGTCCATCATGAGG	0.632000													4	29					0	0	0.217242	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796998	42796998	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:42796998C>T	ENST00000314073.5	+	6	1103	c.927C>T	c.(925-927)gtC>gtT	p.V309V	GLTSCR1L_ENST00000394168.1_Silent_p.V309V					GLTSCR1-like																		CAAATAAAGTCCCAATTAATA	0.388000													27	369					0	0	0.729181	0	0
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31901508G>A	ENST00000469372.1	+	2	280	c.59G>A	c.(58-60)aGc>aAc	p.S20N	C2_ENST00000299367.5_Silent_p.E188E|C2_ENST00000442278.2_Silent_p.E56E|C2_ENST00000418949.2_Silent_p.E188E|CFB_ENST00000556679.1_Silent_p.E126E|C2_ENST00000452323.2_Silent_p.E65E|CFB_ENST00000456570.1_Silent_p.E126E|CFB_ENST00000477310.1_Intron					complement component 2									p.E188E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTTCGGAGCGGGAGTGCC	0.647000													14	11					0	0	0.539581	0	0
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113286152A>T	ENST00000362072.3	-	5	1058	c.714T>A	c.(712-714)gcT>gcA	p.A238A	DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Silent_p.A238A|DRD2_ENST00000346454.3_Silent_p.A238A|DRD2_ENST00000544518.1_Silent_p.A237A|DRD2_ENST00000542968.1_Silent_p.A238A|DRD2_ENST00000538967.1_Silent_p.A238A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	238	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTTAGTGGAGCCCTCAGGT	0.572000													71	208					0	0	0.870114	0	0
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248059305G>T	ENST00000537741.1	+	3	674	c.417G>T	c.(415-417)agG>agT	p.R139S	OR2W3_ENST00000360358.3_Missense_Mutation_p.R139S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAACCCCAGGCTCTGCCGGG	0.627000													44	80					5.7616e-29	7.15554e-29	0.870114	1	0
OR10A4	283297	broad.mit.edu	37	11	6897968	6897968	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6897968C>T	ENST00000379829.2	+	1	113	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGTTTCTCCTTTTCTTGA	0.443000													116	481					0	0	0.870114	0	0
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219000386C>A	ENST00000318507.2	+	3	1289	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592000													70	71					1.52496e-24	1.85455e-24	0.870114	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:65676637G>T	ENST00000352385.2	-	20	3672	c.3463C>A	c.(3463-3465)Cct>Act	p.P1155T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1155						integral to membrane|plasma membrane		p.P1155T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCCTCAGGCTCCAGGTCT	0.612000													24	32					5.45024e-15	6.2785e-15	0.654019	1	0
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	C	G	rs12298510		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:21981911C>G	ENST00000261200.4	-	29	3649	c.3650G>C	c.(3649-3651)aGa>aCa	p.R1217T	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1181T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1217T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1217	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1217T(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCAGCCATCTGTTGGCAGC	0.418000													116	322					0	0	0.870114	0	0
LRRC40	55631	broad.mit.edu	37	1	70639173	70639173	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:70639173T>A	ENST00000370952.3	-	9	1165	c.1086A>T	c.(1084-1086)ctA>ctT	p.L362L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	362								p.L362L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTAGATATTTTAGGACTTCTT	0.303000													22	91					0	0	0.750413	0	0
TTLL4	9654	broad.mit.edu	37	2	219617846	219617846	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219617846C>T	ENST00000392102.1	+	18	3536	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	TTLL4_ENST00000258398.4_Silent_p.L1066L|TTLL4_ENST00000457313.1_Silent_p.L901L|TTLL4_ENST00000442769.1_Silent_p.L1002L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1066					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGAGTAGATCTGCTCCGGAG	0.498000													18	704					0	0	0.639603	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:55407437C>A	ENST00000341048.4	-	10	1289	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ANKRD55_ENST00000504958.2_Missense_Mutation_p.D337Y|ANKRD55_ENST00000434982.2_Missense_Mutation_p.D92Y|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	379								p.D380Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTGATGATGTCATTGACTTCT	0.463000													106	476					1.55193e-37	1.99514e-37	0.870114	1	0
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3726108G>A	ENST00000252505.3	+	4	297	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64							allantoicase activity	p.W45*(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGAAATGGATGGATGGCT	0.463000										HNSCC(21;0.051)			54	71					0	0	0.870114	0	0
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463000													127	367					0	0	0.870114	0	0
FGD3	89846	broad.mit.edu	37	9	95773525	95773525	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:95773525A>T	ENST00000375482.3	+	8	1502	c.1006A>T	c.(1006-1008)Aac>Tac	p.N336Y	FGD3_ENST00000416701.2_Missense_Mutation_p.N336Y|FGD3_ENST00000337352.6_Missense_Mutation_p.N336Y	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	336	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.N336Y(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CACAGCCGCCAACCACTCCAA	0.637000													8	121					0	0	0.387290	0	0
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:168106754G>T	ENST00000409195.1	+	9	8941	c.8852G>T	c.(8851-8853)cGt>cTt	p.R2951L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2729L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2951L|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2776					actin cytoskeleton organization	cell junction	actin binding	p.R2951L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAGAAAACGTGAAGAACTG	0.373000													167	241					3.77185e-81	5.17656e-81	0.870114	1	0
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:8425882G>A	ENST00000337907.3	-	14	2071	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Silent_p.S479S|RERE_ENST00000400908.2_Silent_p.S479S|RERE_ENST00000377464.1_Silent_p.S211S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	479					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S479S(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGAATTCACTGGACGGGGGTC	0.637000													26	21					0	0	0.760397	0	0
DST	667	broad.mit.edu	37	6	56483314	56483314	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:56483314G>T	ENST00000370765.6	-	23	5625	c.5518C>A	c.(5518-5520)Cgt>Agt	p.R1840S	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413000													202	180					5.83862e-134	8.10427e-134	0.870114	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535364	90535364	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:90535364C>G	ENST00000602681.1	+	0	1268																											GCCTCCACCCCACCACCAGGC	0.607000													123	159					0	0	0.870114	0	0
OR5H14	403273	broad.mit.edu	37	3	97868843	97868843	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:97868843C>G	ENST00000437310.1	+	1	674	c.614C>G	c.(613-615)tCa>tGa	p.S205*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S205*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGCAGGTTCAATTCAAGTT	0.299000													9	85					0	0	0.307466	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105408231G>A	ENST00000333244.5	-	7	13676	c.13557C>T	c.(13555-13557)gaC>gaT	p.D4519D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus		p.D4519D(2)		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)			GGACCTCCAGGTCGGCGGAAG	0.622000													6	23					0	0	0.278610	0	0
MAZ	4150	broad.mit.edu	37	16	29819948	29819948	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:29819948G>A	ENST00000219782.6	+	4	1271	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MAZ_ENST00000322945.6_Missense_Mutation_p.E389K|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000545521.1_Missense_Mutation_p.E366K|MAZ_ENST00000562337.1_Missense_Mutation_p.E84K|MAZ_ENST00000568544.1_5'UTR	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	389					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.E389K(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTACGACACGAGGAGAAAGT	0.582000													12	4					0	0	0.500413	0	0
LILRP2	79166	broad.mit.edu	37	19	55221965	55221965	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55221965G>A	ENST00000413439.1	+	0	1492																											TGACCCTGCTGTGTCAGTCAC	0.622000													19	83					0	0	0.575678	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:78651442C>G	ENST00000286627.5	-	25	3961	c.3009G>C	c.(3007-3009)cgG>cgC	p.R1003R	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1030R|KCNMA1_ENST00000286628.8_Silent_p.R1061R|KCNMA1_ENST00000354353.5_Silent_p.R1064R|KCNMA1_ENST00000372440.1_Silent_p.R1003R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.R1065R|KCNMA1_ENST00000404857.1_Silent_p.R1044R|KCNMA1_ENST00000404771.3_Silent_p.R1061R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1003R(2)|p.R1065R(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCACCAGGGTCCGTATCAGGG	0.542000													32	77					0	0	0.796494	0	0
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45004705A>T	ENST00000429094.2	-	14	1997	c.1493T>A	c.(1492-1494)tTa>tAa	p.L498*	NELL2_ENST00000437801.2_Nonsense_Mutation_p.L548*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.L498*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.L497*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.L521*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	498	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.L548*(2)|p.L498*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTGAAGCATAAAGCATTTTC	0.388000													150	276					0	0	0.870114	0	0
MRPL45	84311	broad.mit.edu	37	17	36453205	36453205	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:36453205G>T	ENST00000312513.5	+	1	217	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	19					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	p.W19L(2)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGCTGGTGGTTTCGGCAG	0.572000													5	46					0.00116845	0.00119792	0.217242	1	0
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156554719G>T	ENST00000368236.3	+	7	1338	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.E434D	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434							binding	p.E434D(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGCGGAGGGGACCCCAG	0.612000													13	13					4.7546e-09	5.20268e-09	0.500413	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110030427	110030427	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110030427G>A	ENST00000369870.3	+	5	715		c.e5+1			NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2									p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGATGGCTCGTGAGTAGTTG	0.592000													5	14					0	0	0.217242	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152726	100152726	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:100152726T>A	ENST00000370575.4	-	9	948	c.900A>T	c.(898-900)acA>acT	p.T300T	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	300							oxidoreductase activity	p.T300T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGCTCCATGTGTGGTGGCTG	0.572000													8	120					0	0	0.307466	0	0
RNF138	51444	broad.mit.edu	37	18	29672847	29672847	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:29672847C>G	ENST00000261593.3	+	2	566	c.108C>G	c.(106-108)caC>caG	p.H36Q	RNF138_ENST00000257190.5_Missense_Mutation_p.H36Q|RP11-53I6.2_ENST00000583184.1_RNA|RNF138_ENST00000585103.1_3'UTR	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	36					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	p.H36Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTGTCAGCACGTGTGAGTAG	0.697000													6	4					0	0	0.217242	0	0
IBA57	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228363178A>G	ENST00000366711.3	+	3	1037	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	IBA57_ENST00000546123.1_Silent_p.A152A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTAGCCGCATCTGTGCCAG	0.647000													7	9					0	0	0.335167	0	0
ANGPT1	284	broad.mit.edu	37	8	108315484	108315484	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:108315484A>G	ENST00000520734.1	-	4	605	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ANGPT1_ENST00000520052.1_Missense_Mutation_p.M106T|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	307					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.M307T(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGGTTCTGGCATATTATTAAT	0.348000													42	47					0	0	0.870114	0	0
EPHA7	2045	broad.mit.edu	37	6	94068026	94068026	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:94068026A>C	ENST00000369303.4	-	4	1120	c.936T>G	c.(934-936)tgT>tgG	p.C312W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	312	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C312W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCCATCTTCACATTCACATC	0.458000													10	86					0	0	0.387290	0	0
ZNF407	55628	broad.mit.edu	37	18	72346391	72346391	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:72346391C>G	ENST00000299687.5	+	1	3416	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C	ZNF407_ENST00000577538.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1139C|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1139C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1139C(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAGATATGTCTAAAGTGCTC	0.358000													9	40					0	0	0.335167	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767922	41767922	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41767922C>T	ENST00000379483.3	-	1	780	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	158							protein binding	p.E158K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCACAGGCTTCCCGCACATAT	0.572000													7	144					0	0	0.335167	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870200	36870200	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36870200G>A	ENST00000279024.4	-	3	604	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCCTCCTGGGGCTCCACTT	0.557000													52	308					0	0	0.870114	0	0
TBCE	6905	broad.mit.edu	37	1	235612020	235612020	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:235612020A>C	ENST00000543662.1	+	18	1786	c.1680A>C	c.(1678-1680)ctA>ctC	p.L560L	TBCE_ENST00000406207.1_Silent_p.L509L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.L509L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	509					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.L509L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATGACCTAAAGTCATTAC	0.393000													15	77					0	0	0.539581	0	0
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37098576C>T	ENST00000300105.6	-	1	1027	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	16					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G16S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGAAAGCACCAACGGTGGTT	0.473000													127	194					0	0	0.870114	0	0
KCNB2	9312	broad.mit.edu	37	8	73480521	73480521	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:73480521G>C	ENST00000523207.1	+	2	1140	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	184					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E184D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGCTGGAGAAACCTAACT	0.458000													78	421					0	0	0.870114	0	0
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166930006T>A	ENST00000423058.2	-	1	143	c.126A>T	c.(124-126)aaA>aaT	p.K42N	SCN1A_ENST00000409050.1_Missense_Mutation_p.K42N|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K42N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K42N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	42						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K42N(4)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCGTCATCTTTTTTGTCTG	0.443000													293	208					0	0	0.870114	0	0
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								31	186					0	0	0.812448	0	0
VWA8	23078	broad.mit.edu	37	13	42293845	42293845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:42293845G>A	ENST00000379310.3	-	26	3066	c.2998C>T	c.(2998-3000)Cga>Tga	p.R1000*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.R1000*	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.R1000*(2)									AACACATTTCGAACTACACTG	0.333000													13	68					0	0	0.457914	0	0
DLGAP5	9787	broad.mit.edu	37	14	55644032	55644032	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:55644032C>T	ENST00000247191.2	-	8	1013	c.797G>A	c.(796-798)aGt>aAt	p.S266N	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S266N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	266					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.S266N(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATTTTCTTCACTATCGACTTT	0.323000													7	87					0	0	0.248553	0	0
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58491902G>T	ENST00000344743.3	-	2	209	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	GLYAT_ENST00000529732.1_Missense_Mutation_p.P23Q|GLYAT_ENST00000278400.3_Missense_Mutation_p.P23Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	23					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.P23Q(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAAGGATGCTGGGAGGCTCTT	0.443000													41	186					1.63429e-32	2.06295e-32	0.870114	1	0
AURKC	6795	broad.mit.edu	37	19	57744834	57744834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57744834G>T	ENST00000302804.7	+	5	628	c.442G>T	c.(442-444)Gag>Tag	p.E148*	AURKC_ENST00000448930.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.E145*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.E129*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	148	Protein kinase.		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E114*(1)|p.E148*(1)|p.E114Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGATAATAGAGGAGTTGGC	0.478000													15	77					6.31663e-08	6.82513e-08	0.479597	1	0
GABRG3	2567	broad.mit.edu	37	15	27765258	27765258	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:27765258A>T	ENST00000333743.6	+	7	1107	c.853A>T	c.(853-855)Aga>Tga	p.R285*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	285					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R285*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TACGCCAGCAAGAACAGCATT	0.343000													3	31					0	0	0.115264	0	0
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89449995C>A	ENST00000539437.1	-	5	514	c.378G>T	c.(376-378)cgG>cgT	p.R126R	MFGE8_ENST00000268151.7_Silent_p.R134R|MFGE8_ENST00000542878.1_Silent_p.R90R|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000566497.1_Silent_p.R134R|MFGE8_ENST00000268150.8_Silent_p.R134R			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	134	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.R134R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCACATCCTCCGCAGCAGGT	0.587000													17	34					8.10497e-08	8.75098e-08	0.592651	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:140995104C>A	ENST00000285879.4	+	4	2200	c.1914C>A	c.(1912-1914)tcC>tcA	p.S638S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638							protein binding	p.S638S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATCCAGTCTTCCCC	0.567000										HNSCC(15;0.026)			75	237					5.78178e-49	7.67582e-49	0.870114	1	0
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3649416C>T	ENST00000378295.4	+	14	1839	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TP73_ENST00000604074.1_3'UTR|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000604479.1_Missense_Mutation_p.R466C|TP73_ENST00000357733.3_Missense_Mutation_p.R481C|TP73_ENST00000346387.4_Missense_Mutation_p.R466C|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.R481C|TP73_ENST00000378288.4_Missense_Mutation_p.R513C|TP73_ENST00000378290.4_Missense_Mutation_p.R491C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	562					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.R562C(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCAGCTGCTCCGCTCTAGCAA	0.682000													4	3					0	0	0.278610	0	0
SWAP70	23075	broad.mit.edu	37	11	9685753	9685753	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:9685753C>G	ENST00000318950.6	+	1	130	c.27C>G	c.(25-27)ctC>ctG	p.L9L	SWAP70_ENST00000447399.2_Silent_p.L9L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	9						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGGAGCTGCTCAAAGCCATCT	0.706000													2	6					0	0	0.150653	0	0
UNC79	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083609C>T	ENST00000553484.1	+	29	4403	c.4249C>T	c.(4249-4251)Cgg>Tgg	p.R1417W	UNC79_ENST00000256339.4_Missense_Mutation_p.R1218W|UNC79_ENST00000555664.1_Missense_Mutation_p.R1395W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1395W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395						integral to membrane		p.R1218W(2)|p.R1417W(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTCACATCCGGCAGATGTG	0.502000													46	186					0	0	0.870114	0	0
KCNV1	27012	broad.mit.edu	37	8	110986364	110986364	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110986364G>T	ENST00000524391.1	-	2	1286	c.254C>A	c.(253-255)cCc>cAc	p.P85H	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.P85H			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	85						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P85H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGAGGGCTGGGCACGGCGGC	0.677000													6	5					0.00198382	0.00202394	0.248553	1	0
NABP2	79035	broad.mit.edu	37	12	56619478	56619478	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56619478G>C	ENST00000380198.2	+	3	787	c.290_splice	c.e3+1	p.E97_splice	NABP2_ENST00000341463.5_Splice_Site_p.E97_splice|NABP2_ENST00000267023.4_Splice_Site_p.E97_splice					nucleic acid binding protein 2									p.E97Q(1)									GAAGATTGGAGAGTAAGTGCT	0.488000													16	105					0	0	0.575678	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105416868C>G	ENST00000333244.5	-	7	5039	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						nucleus		p.L1640L(2)		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)			GGTCCCCCTCCAGCTGCGCAC	0.602000													8	63					0	0	0.335167	0	0
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:19785946C>T	ENST00000341998.2	-	1	980	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A307T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	307					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A307T(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTGCTTGGGCTTCTGGTGCT	0.378000													33	64					0	0	0.796494	0	0
SRCAP	10847	broad.mit.edu	37	16	30732216	30732216	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:30732216G>T	ENST00000262518.4	+	20	3555	c.3170G>T	c.(3169-3171)gGg>gTg	p.G1057V	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057V|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			TCACCTGCCGGGCCCCCGCTT	0.642000													34	91					2.61675e-31	3.29176e-31	0.864702	1	0
NLRP1	22861	broad.mit.edu	37	17	5487022	5487022	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5487022C>T	ENST00000345221.3	-	1	810	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	NLRP1_ENST00000262467.5_Missense_Mutation_p.A86T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.A86T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A86T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A86T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A86T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	86	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A86T(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTCCTGGGCTTGGGCGCAC	0.682000													5	3					0	0	0.217242	0	0
CLN3	1201	broad.mit.edu	37	16	28493450	28493450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:28493450G>T	ENST00000569430.1	-	15	1851	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	CLN3_ENST00000567963.1_Intron|CLN3_ENST00000535392.1_Missense_Mutation_p.F266L|CLN3_ENST00000357076.5_Missense_Mutation_p.F234L|CLN3_ENST00000395653.4_Missense_Mutation_p.F244L|CLN3_ENST00000568224.1_Missense_Mutation_p.F266L|CLN3_ENST00000360019.2_Missense_Mutation_p.F344L|CLN3_ENST00000357806.7_Missense_Mutation_p.F245L|CLN3_ENST00000565316.1_Missense_Mutation_p.F327L|CLN3_ENST00000357857.9_Missense_Mutation_p.F290L|CLN3_ENST00000359984.7_Missense_Mutation_p.F344L|CLN3_ENST00000355477.5_Missense_Mutation_p.F296L|CLN3_ENST00000354630.5_Missense_Mutation_p.F327L|CLN3_ENST00000333496.9_Missense_Mutation_p.F320L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	344					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.F344L(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGGCCCAGGTGAAACGGATGC	0.637000													9	22					0.000219431	0.000227518	0.457914	1	0
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100934574G>A	ENST00000548884.1	+	9	1585	c.1044G>A	c.(1042-1044)ttG>ttA	p.L348L	NR1H4_ENST00000392986.3_Silent_p.L352L|NR1H4_ENST00000551379.1_Silent_p.L362L|NR1H4_ENST00000549996.1_Silent_p.L301L|NR1H4_ENST00000188403.7_Silent_p.L358L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L362L(2)|p.L348L(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTGACCTATTGGAAGAAAGAA	0.423000													76	123					0	0	0.870114	0	0
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52394608G>C	ENST00000354957.3	-	5	1065	c.781C>G	c.(781-783)Cca>Gca	p.P261A	ZNF649_ENST00000600738.1_Missense_Mutation_p.P233A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTATGGTTTCTCTCCT	0.502000													46	223					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110516641	110516641	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110516641G>T	ENST00000378402.5	+	68	11018	c.10914G>T	c.(10912-10914)caG>caT	p.Q3638H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3638					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q3642H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGATTTACAGCATCCAATCC	0.279000										HNSCC(38;0.096)			37	56					1.13552e-05	1.19344e-05	0.847076	1	0
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1434L(3)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGAAACATCGATATGCCAG	0.537000													179	375					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11038955	11038955	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:11038955G>C	ENST00000470054.1	-	0	1248									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAATGAAAATGATGACTCTGT	0.418000													63	2005					0	0	0.667858	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:55024197A>G	ENST00000324000.3	+	3	2390	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	119					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N119S(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACCAAGAATAGTGTTCGG	0.333000													6	30					0	0	0.248553	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441606	110441606	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110441606T>A	ENST00000378402.5	+	26	3142	c.3038T>A	c.(3037-3039)aTg>aAg	p.M1013K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1013					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.M1015K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGGCTAATATGACAGTTACA	0.338000										HNSCC(38;0.096)			15	36					0	0	0.520397	0	0
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:32438301C>T	ENST00000283365.9	+	15	1684	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512000													14	97					0	0	0.479597	0	0
ZNF860	344787	broad.mit.edu	37	3	32031984	32031984	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:32031984T>A	ENST00000360311.4	+	2	1962	c.1413T>A	c.(1411-1413)atT>atA	p.I471I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I471I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.408000													14	85					0	0	0.500413	0	0
ZPBP	11055	broad.mit.edu	37	7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353000													12	69					0	0	0.411799	0	0
USP50	373509	broad.mit.edu	37	15	50835935	50835935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50835935C>A	ENST00000532404.1	-	3	477	c.304G>T	c.(304-306)Gga>Tga	p.G102*	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	102					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.G107*(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTCTCCCAGCCACATG	0.438000													10	77					1.76689e-08	1.92334e-08	0.335167	1	0
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:117228579G>A	ENST00000362057.3	-	3	1099	c.931C>T	c.(931-933)Cca>Tca	p.P311S	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	311	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.P311S(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGCCTGGGTCCACGCCA	0.602000													39	60					0	0	0.812448	0	0
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54338891A>G	ENST00000243056.3	+	2	1000	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	282						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S282G(2)|p.S282R(1)		breast(1)|large_intestine(1)|skin(1)	3						ATACGCGGCTAGCAAGTTCAT	0.607000			T	NUP98	AML								3	36					0	0	0.184627	0	0
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:118532435G>C	ENST00000529101.1	-	6	573	c.528C>G	c.(526-528)gaC>gaG	p.D176E	TREH_ENST00000530256.1_Missense_Mutation_p.D53E|TREH_ENST00000264029.4_Missense_Mutation_p.D176E|TREH_ENST00000525958.1_Intron|TREH_ENST00000397925.1_Intron			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	176					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.D53E(2)|p.D176E(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CCCAGTAGGAGTCCCTGGGGA	0.632000													19	34					0	0	0.681144	0	0
CREB5	9586	broad.mit.edu	37	7	28848855	28848855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:28848855C>T	ENST00000357727.2	+	9	1468	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q221*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q353*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	360					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q360*(1)|p.Q221*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGCCACCCCAGCCCACAGG	0.637000													9	47					0	0	0.411799	0	0
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:150924904C>A	ENST00000261800.5	-	9	5796	c.5784G>T	c.(5782-5784)ctG>ctT	p.L1928L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1928					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.L1928L(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGGATTCAGCACAGATA	0.478000													48	226					3.28156e-27	4.04799e-27	0.870114	1	0
FN1	2335	broad.mit.edu	37	2	216279643	216279643	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:216279643G>C	ENST00000354785.4	-	13	2227	c.1858C>G	c.(1858-1860)Ccg>Gcg	p.P620A	FN1_ENST00000432072.2_Missense_Mutation_p.P620A|FN1_ENST00000345488.5_Missense_Mutation_p.P620A|FN1_ENST00000357867.4_Missense_Mutation_p.P620A|FN1_ENST00000357009.2_Missense_Mutation_p.P620A|FN1_ENST00000356005.4_Missense_Mutation_p.P620A|FN1_ENST00000323926.6_Missense_Mutation_p.P620A|FN1_ENST00000336916.4_Missense_Mutation_p.P620A|FN1_ENST00000359671.1_Missense_Mutation_p.P620A|FN1_ENST00000446046.1_Missense_Mutation_p.P620A|FN1_ENST00000443816.1_Missense_Mutation_p.P620A|FN1_ENST00000426059.1_Missense_Mutation_p.P620A|FN1_ENST00000421182.1_Missense_Mutation_p.P620A|FN1_ENST00000346544.3_Missense_Mutation_p.P620A			P02751	FINC_HUMAN	fibronectin 1	620	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.P620A(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACTCGGAGTCTCAGTG	0.443000													30	79					0	0	0.769981	0	0
IFI16	3428	broad.mit.edu	37	1	158988421	158988421	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158988421G>T	ENST00000295809.7	+	5	1207	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	IFI16_ENST00000368131.4_Missense_Mutation_p.G318W|IFI16_ENST00000340979.6_Missense_Mutation_p.G318W|IFI16_ENST00000430894.2_Missense_Mutation_p.G266W|IFI16_ENST00000359709.3_Missense_Mutation_p.G262W|IFI16_ENST00000368132.3_Missense_Mutation_p.G318W|IFI16_ENST00000448393.2_Missense_Mutation_p.G318W			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	318	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.G318W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTGTATATGGGGTATTTAT	0.338000													19	259					4.81078e-24	5.83113e-24	0.639603	1	0
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:119043108C>T	ENST00000334464.5	-	5	3375	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046					intracellular signal transduction		metal ion binding	p.E1046K(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATCAATTTCATTCTGTAGC	0.383000													37	195					0	0	0.804634	0	0
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30232608G>C	ENST00000376075.3	+	5	492	c.417G>C	c.(415-417)cgG>cgC	p.R139R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGACGAGCGGAAAGCCCAGC	0.582000													10	86					0	0	0.479597	0	0
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50540459G>C	ENST00000267845.3	-	10	1525	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	375					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACATGTGCTTGAAGATTCTTC	0.507000													35	114					0	0	0.827153	0	0
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:4199621C>A	ENST00000296358.4	-	5	964	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314					biomineral tissue development	extracellular space|integral to membrane		p.G314C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACTGCGCCCACCATGACC	0.577000													22	42					1.85244e-09	2.04692e-09	0.654019	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	G	T	rs77402299		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140864842G>T	ENST00000306593.1	+	1	102	c.102G>T	c.(100-102)ccG>ccT	p.P34P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.P34P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACCCGGTCCCAGAGG	0.557000													20	73					1.2644e-06	1.34435e-06	0.592651	1	0
EFCAB13	124989	broad.mit.edu	37	17	45447856	45447856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45447856G>C	ENST00000331493.2	+	11	1270	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E191Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.E287Q(1)									TGAGCTACAGGAACAGTATGA	0.274000													48	242					0	0	0.870114	0	0
PSG2	5670	broad.mit.edu	37	19	43576091	43576091	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43576091G>T	ENST00000406487.1	-	4	823	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGAATTCTGGGGAGGTCTGG	0.498000													172	329					8.31354e-96	1.14634e-95	0.870114	1	0
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48761448C>G	ENST00000285238.8	+	28	4173	c.4093C>G	c.(4093-4095)Cag>Gag	p.Q1365E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2.		Q -> R (in dbSNP:rs11568590).		bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.Q1365E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCGCTCTCAGCTGACCAT	0.602000													21	56					0	0	0.667858	0	0
TRIM37	4591	broad.mit.edu	37	17	57126552	57126552	+	Missense_Mutation	SNP	T	T	C	rs77807605		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57126552T>C	ENST00000376149.3	-	15	1960	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	TRIM37_ENST00000262294.7_Missense_Mutation_p.N506S|TRIM37_ENST00000393066.3_Missense_Mutation_p.N506S|TRIM37_ENST00000393065.2_Missense_Mutation_p.N472S			O94972	TRI37_HUMAN	tripartite motif containing 37	506	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.N506S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATAATCTTCATTCTGAATCTT	0.363000									Mulibrey Nanism				16	77					0	0	0.592651	0	0
ZNF248	57209	broad.mit.edu	37	10	38126615	38126615	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:38126615C>T	ENST00000395867.3	-	5	718	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF248_ENST00000374648.3_Silent_p.V56V|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000357328.4_Silent_p.V56V	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V56V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTTAAAGATCACTTCTGGTT	0.438000													30	97					0	0	0.796494	0	0
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	A	T	rs34236419		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171715359A>T	ENST00000358196.3	+	16	2117	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	523					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R523W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACAAAGCCTCAGGGGTGTGCC	0.438000													64	68					0	0	0.870114	0	0
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:17431488C>A	ENST00000375486.4	-	2	224	c.161G>T	c.(160-162)cGt>cTt	p.R54L	PADI2_ENST00000444885.2_Missense_Mutation_p.R54L|PADI2_ENST00000375481.1_Missense_Mutation_p.R54L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R54L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCCCCATCACGCACCACCTC	0.662000													12	10					1.15088e-07	1.23713e-07	0.500413	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144854175	144854175	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:144854175G>C	ENST00000369359.4	-	46	7435	c.7397C>G	c.(7396-7398)aCt>aGt	p.T2466S	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T2415S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T2330S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T2330S|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T2224S|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2330					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T2330S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTAAGTTAGTCCTTGCCTT	0.468000			T	PDGFRB	MPD								5	128					0	0	0.248553	0	0
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:10288575G>A	ENST00000296658.3	-	3	702	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	94						cytosol	hydrolase activity|protein binding	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GCCACTCAGGGAAGATAGACC	0.507000													7	55					0	0	0.307466	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:89916936T>A	ENST00000548729.1	-	3	1684	c.1382A>T	c.(1381-1383)gAc>gTc	p.D461V	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.D464V|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.D292V|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.D464V(1)									GGGGTTGTTGTCAGGAGAATT	0.403000													3	38					0	0	0.150653	0	0
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113697836G>C	ENST00000297405.5	-	15	2525	c.2281C>G	c.(2281-2283)Ctt>Gtt	p.L761V	CSMD3_ENST00000352409.3_Missense_Mutation_p.L761V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	199					0	0	0.870114	0	0
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:29609316G>T	ENST00000373779.3	+	12	2126	c.1997G>T	c.(1996-1998)gGg>gTg	p.G666V	PTPRU_ENST00000356870.3_Missense_Mutation_p.G666V|PTPRU_ENST00000323874.8_Missense_Mutation_p.G666V|PTPRU_ENST00000428026.2_Missense_Mutation_p.G666V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.G666V|PTPRU_ENST00000345512.3_Missense_Mutation_p.G666V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G666V(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACTACTTCGGGGCCGAACTG	0.667000													44	45					8.44121e-28	1.04303e-27	0.870114	1	0
CEP350	9857	broad.mit.edu	37	1	179983409	179983409	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:179983409G>A	ENST00000367607.3	+	10	2239	c.1821G>A	c.(1819-1821)agG>agA	p.R607R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	607						centrosome|nucleus|spindle		p.R607R(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGAGGAAAGGAAGAGAAAGC	0.428000													7	80					0	0	0.278610	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858317	15858317	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15858317A>G	ENST00000285670.2	-	9	1416	c.1242T>C	c.(1240-1242)aaT>aaC	p.N414N	SAMSN1_ENST00000400564.1_Silent_p.N178N|SAMSN1_ENST00000400566.1_Silent_p.N346N	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	346					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CATTATCTGAATTTCCTGATG	0.428000													22	926					0	0	0.654019	0	0
MARK1	4139	broad.mit.edu	37	1	220825366	220825366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:220825366G>C	ENST00000402574.1	+	15	2207	c.1205G>C	c.(1204-1206)gGc>gCc	p.G402A	MARK1_ENST00000366917.4_Missense_Mutation_p.G537A|MARK1_ENST00000366918.4_Missense_Mutation_p.G515A	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	537					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G537A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTCTGCAGGCTCTTCTGTG	0.463000													38	192					0	0	0.864702	0	0
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:108714382T>A	ENST00000361189.2	-	4	1045	c.806A>T	c.(805-807)cAa>cTa	p.Q269L	PJA2_ENST00000361557.3_Missense_Mutation_p.Q269L	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	269					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.Q269L(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTATTTTGTTGTTTCGTACT	0.403000													23	67					0	0	0.667858	0	0
NBEA	26960	broad.mit.edu	37	13	36241513	36241513	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36241513G>T	ENST00000540320.1	+	56	8938	c.8404G>T	c.(8404-8406)Ggc>Tgc	p.G2802C	NBEA_ENST00000379939.2_Missense_Mutation_p.G2799C|NBEA_ENST00000537702.1_Missense_Mutation_p.G595C|NBEA_ENST00000379922.3_Missense_Mutation_p.G380C|NBEA_ENST00000310336.4_Missense_Mutation_p.G2802C|NBEA_ENST00000400445.3_Missense_Mutation_p.G2802C			Q8NFP9	NBEA_HUMAN	neurobeachin	2802						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.G2802C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTGCAGAGGGCCCTTGCCT	0.532000													35	121					6.33695e-27	7.79727e-27	0.834066	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110397826	110397826	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110397826T>G	ENST00000378402.5	+	6	640	c.536T>G	c.(535-537)cTa>cGa	p.L179R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	179	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L179R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATATTGCACTAAGCTCAAAT	0.294000										HNSCC(38;0.096)			26	54					0	0	0.788014	0	0
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:26242238C>G	ENST00000335473.7	+	19	3790	c.3540C>G	c.(3538-3540)atC>atG	p.I1180M	MYO18B_ENST00000407587.2_Missense_Mutation_p.I1181M|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617000													40	76					0	0	0.870114	0	0
FAT3	120114	broad.mit.edu	37	11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92532943A>G	ENST00000298047.6	+	9	6781	c.6764A>G	c.(6763-6765)aAg>aGg	p.K2255R	FAT3_ENST00000525166.1_Missense_Mutation_p.K2105R|FAT3_ENST00000409404.2_Missense_Mutation_p.K2255R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2255	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K2255R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428000										TCGA Ovarian(4;0.039)			5	49					0	0	0.184627	0	0
OR6K3	391114	broad.mit.edu	37	1	158687653	158687653	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158687653G>T	ENST00000368146.1	-	1	300	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L85I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L101I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCACTGATGAGGTTGGAGAGC	0.453000													109	841					3.88716e-44	5.09124e-44	0.870114	1	0
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35719611C>T	ENST00000314888.9	-	15	1945	c.1592G>A	c.(1591-1593)tGg>tAg	p.W531*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.W531*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	531					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.W531*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTACGCCAGGCCTTAGA	0.512000													37	136					0	0	0.819951	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163941	93163941	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:93163941C>T	ENST00000344636.3	+	12	1294	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.F370F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATCTTTATTCACATTGCCCG	0.318000													16	153					0	0	0.608945	0	0
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:63543950C>T	ENST00000299178.2	-	1	772	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G223S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACAAAGATGCCGCCCGTCATC	0.617000													43	84					0	0	0.870114	0	0
DIAPH2	1730	broad.mit.edu	37	X	96220166	96220166	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:96220166C>T	ENST00000324765.8	+	17	2357	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	DIAPH2_ENST00000373049.4_Silent_p.L670L|DIAPH2_ENST00000373054.4_Silent_p.L666L|DIAPH2_ENST00000355827.4_Silent_p.L670L|DIAPH2_ENST00000373061.3_Silent_p.L670L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	670	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.L670L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATCCAGATCTCTTTGCCAAAT	0.303000													11	22					0	0	0.479597	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100802561	100802561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:100802561C>G	ENST00000268070.4	-	5	974	c.869G>C	c.(868-870)cGt>cCt	p.R290P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	290	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R290P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTTACGGGACGTTGTCGTAG	0.473000													44	268					0	0	0.870114	0	0
DAGLA	747	broad.mit.edu	37	11	61493493	61493493	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61493493C>G	ENST00000257215.5	+	6	691	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	192					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCAAGCCACCAGCTGGTCG	0.607000													4	39					0	0	0.184627	0	0
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:73567113G>T	ENST00000392550.3	+	17	2225	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	LLGL2_ENST00000167462.5_Missense_Mutation_p.R703L|LLGL2_ENST00000577200.1_Missense_Mutation_p.R703L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	703					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.R703L(4)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATCGAGGCTCGCTCGGCAGAG	0.657000													6	7					3.09899e-07	3.31662e-07	0.307466	1	0
DUSP11	8446	broad.mit.edu	37	2	73993667	73993667	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:73993667G>A	ENST00000272444.3	-	8	854	c.813C>T	c.(811-813)ctC>ctT	p.L271L	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	224					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.L224L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CTGGTTGCATGAGATGTGCTG	0.418000													101	428					0	0	0.870114	0	0
RNF7	9616	broad.mit.edu	37	3	141457240	141457240	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:141457240C>G	ENST00000273480.3	+	1	195	c.57C>G	c.(55-57)agC>agG	p.S19R	RNF7_ENST00000480908.1_Missense_Mutation_p.S19R|RNF7_ENST00000393000.3_Missense_Mutation_p.S19R	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	19					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	p.S19R(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ACTCCGGGAGCTCAGGCTCCA	0.657000													4	17					0	0	0.184627	0	0
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15928326G>T	ENST00000504595.1	+	3	936	c.455G>T	c.(454-456)cGg>cTg	p.R152L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R140L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R105L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R152L(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGGACCCGCGGCTCTGGAGG	0.662000													4	14					0.00198382	0.00202394	0.248553	1	0
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:8982214G>T	ENST00000397910.4	-	70	42264	c.42061C>A	c.(42061-42063)Cat>Aat	p.H14021N	MUC16_ENST00000380951.5_Missense_Mutation_p.H662N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14046	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H14021N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCATGGGTCTGCTGG	0.632000													116	149					2.51472e-61	3.38458e-61	0.870114	1	0
SLC30A9	10463	broad.mit.edu	37	4	42024921	42024921	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:42024921A>G	ENST00000264451.6	+	5	681	c.501A>G	c.(499-501)gtA>gtG	p.V167V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	167					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.V167V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTTTACTGTATACTTGAGAT	0.323000													52	69					0	0	0.870114	0	0
IFT172	26160	broad.mit.edu	37	2	27706212	27706212	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27706212C>T	ENST00000260570.3	-	7	617	c.514G>A	c.(514-516)Gca>Aca	p.A172T	IFT172_ENST00000416524.2_Missense_Mutation_p.A151T|IFT172_ENST00000359466.6_Missense_Mutation_p.A172T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	172					cilium assembly	cilium	binding	p.A172T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTACCATCTGCATGACCAGAG	0.423000													57	252					0	0	0.870114	0	0
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39088536T>G	ENST00000295373.6	-	5	1142	c.1016A>C	c.(1015-1017)gAt>gCt	p.D339A	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D339A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAGAATCATCTACACTTCT	0.333000													35	53					0	0	0.840704	0	0
ZNF831	128611	broad.mit.edu	37	20	57769224	57769224	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57769224G>T	ENST00000371030.2	+	1	3150	c.3150G>T	c.(3148-3150)gaG>gaT	p.E1050D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1050						intracellular	nucleic acid binding|zinc ion binding	p.E1050D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCCCAGGGAGGCTACCTCCT	0.632000													8	4					3.09899e-07	3.31662e-07	0.307466	1	0
TNS3	64759	broad.mit.edu	37	7	47343137	47343137	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47343137G>T	ENST00000398879.1	-	22	3234	c.2868C>A	c.(2866-2868)ccC>ccA	p.P956P	TNS3_ENST00000311160.9_Silent_p.P956P|TNS3_ENST00000355730.3_Silent_p.P716P			Q68CZ2	TENS3_HUMAN	tensin 3	956						focal adhesion	protein binding	p.P956P(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGAAACCATGGGCTTGGGGC	0.607000													4	19					0.000274275	0.000283179	0.307466	1	0
EPHA6	285220	broad.mit.edu	37	3	96962921	96962921	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:96962921T>A	ENST00000389672.5	+	5	1434	c.1396T>A	c.(1396-1398)Tgt>Agt	p.C466S	EPHA6_ENST00000470610.2_Missense_Mutation_p.C466S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	371	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C372S(2)|p.C466S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTAAGAAATGTGGCTTAGA	0.453000													20	168					0	0	0.608945	0	0
LY6K	54742	broad.mit.edu	37	8	143784660	143784660	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143784660A>G	ENST00000292430.6	+	3	786	c.369A>G	c.(367-369)ttA>ttG	p.L123L	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000561179.1_Silent_p.L181L			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	123	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.L181L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTGCAATTTAGAGGGGCCAC	0.532000													18	135					0	0	0.575678	0	0
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:123601254C>T	ENST00000336139.4	-	3	705	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZNF202_ENST00000529691.1_Missense_Mutation_p.E115K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E115K			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCCTCCTCGCCACTTTCT	0.582000													44	100					0	0	0.870114	0	0
PRDM4	11108	broad.mit.edu	37	12	108134944	108134944	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:108134944T>C	ENST00000228437.5	-	10	2162	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	568					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H568R(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGATGGTTATGGATGTGGCT	0.488000													35	216					0	0	0.870114	0	0
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	C	G	rs140307739		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1508329C>G	ENST00000381401.5	-	2	1117	c.403G>C	c.(403-405)Gat>Cat	p.D135H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	135					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.D135H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTGGCGAAATCCAGCGGGTAC	0.657000													3	22					0	0	0.150653	0	0
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1271377G>A	ENST00000447027.1	+	31	13334	c.13276G>A	c.(13276-13278)Gag>Aag	p.E4426K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E4423K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.E4423K(2)|p.E4378K(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCCTCACAGAGCTGACCAC	0.647000													5	25					0	0	0.217242	0	0
OR13G1	441933	broad.mit.edu	37	1	247835786	247835786	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247835786A>G	ENST00000359688.2	-	1	579	c.558T>C	c.(556-558)tgT>tgC	p.C186C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C186C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTACAGGGCTACAGGACAAAG	0.463000													42	252					0	0	0.870114	0	0
IL2	3558	broad.mit.edu	37	4	123372993	123372993	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:123372993C>T	ENST00000226730.4	-	4	660	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	126					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.E126K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TCAGCATATTCACACATGAAT	0.318000			T	TNFRSF17	intestinal T-cell lymphoma								27	106					0	0	0.729181	0	0
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	T	C	rs141436878		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:76111922T>C	ENST00000324432.5	+	5	876	c.366T>C	c.(364-366)acT>acC	p.T122T	DTX2_ENST00000307569.8_Silent_p.T122T|DTX2_ENST00000446820.2_Silent_p.T122T|DTX2_ENST00000446600.1_Silent_p.T31T|DTX2_ENST00000430490.2_Silent_p.T122T|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Silent_p.T122T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	122	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.T122T(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTCCTGGACTGCCTATGAAG	0.632000													6	34					0	0	0.307466	0	0
MEF2D	4209	broad.mit.edu	37	1	156437954	156437954	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156437954G>A	ENST00000348159.4	-	11	1865	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.A416V|MEF2D_ENST00000368240.2_Missense_Mutation_p.A455V|MEF2D_ENST00000360595.3_Missense_Mutation_p.A455V|MEF2D_ENST00000340875.5_Missense_Mutation_p.A461V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	462					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A462V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGGGCGGGCAGCTGGGAA	0.682000													6	49					0	0	0.335167	0	0
NXPE4	54827	broad.mit.edu	37	11	114453161	114453161	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:114453161C>T	ENST00000375478.3	-	3	859	c.679G>A	c.(679-681)Gct>Act	p.A227T	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.A227T(1)									CACAATTCAGCATTTGTGTTT	0.488000													71	517					0	0	0.870114	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:12028689G>C	ENST00000415385.3	+	9	977		c.e9+1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCACATTGGTATGTTTATG	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								93	184					0	0	0.870114	0	0
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:22068796G>T	ENST00000261200.4	-	5	621	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	ABCC9_ENST00000345162.2_Missense_Mutation_p.L208I|ABCC9_ENST00000261201.4_Missense_Mutation_p.L208I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L208I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATCCTGGAGGTCTTCAGGA	0.363000													17	43					3.62473e-10	4.02351e-10	0.608945	1	0
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15558333T>C	ENST00000344577.2	-	3	578	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	LIPI_ENST00000536861.1_Missense_Mutation_p.I164V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I185V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AATCCACTGATATGAGCCCCT	0.313000													423	233					0	0	0.870114	0	0
UBXN11	91544	broad.mit.edu	37	1	26612443	26612443	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:26612443G>A	ENST00000314675.7	-	5	364	c.285C>T	c.(283-285)gaC>gaT	p.D95D	UBXN11_ENST00000374222.1_Silent_p.D215D|UBXN11_ENST00000374221.3_Silent_p.D215D|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000535108.1_Silent_p.D57D|UBXN11_ENST00000436301.2_Silent_p.D140D|UBXN11_ENST00000374217.2_Silent_p.D182D|UBXN11_ENST00000357089.4_Silent_p.D182D	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	215						cytoplasm|cytoskeleton		p.D215D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCACTTGGGTGTCACCCTCTA	0.627000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	0.115264	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:128060645C>T	ENST00000254730.6	+	5	1410	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	EEFSEC_ENST00000483457.1_Silent_p.H397H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	452						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.H452H(2)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCTGCTCCACGGGCTAGAGG	0.612000													20	58					0	0	0.639603	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000													114	347					0	0	0.870114	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006403	44006403	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:44006403G>A	ENST00000292140.5	-	3	606	c.246C>T	c.(244-246)gcC>gcT	p.A82A	PHLDB3_ENST00000599242.1_Silent_p.A82A	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	82								p.A82A(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGGAGGTGTGGCCGCCATAG	0.652000													4	11					0	0	0.217242	0	0
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148802277C>T	ENST00000378061.2	-	4	818	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G229E(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCGGACTTCCCTCTGGACGA	0.532000													21	29					0	0	0.681144	0	0
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:154133184C>T	ENST00000360256.4	-	16	5688	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1830K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTGGTTTCATTAGGCTTG	0.418000													57	110					0	0	0.870114	0	0
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:19491400G>C	ENST00000375267.2	-	32	4407	c.4404C>G	c.(4402-4404)ctC>ctG	p.L1468L	UBR4_ENST00000375217.2_Silent_p.L1468L|UBR4_ENST00000375254.3_Silent_p.L1468L|UBR4_ENST00000375226.2_Silent_p.L1468L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1468					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L1468L(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCGGGTGAGCCAGGCCT	0.567000													81	118					0	0	0.870114	0	0
SLIT3	6586	broad.mit.edu	37	5	168137973	168137973	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:168137973G>A	ENST00000519560.1	-	25	3065	c.2646C>T	c.(2644-2646)gcC>gcT	p.A882A	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.A882A|SLIT3_ENST00000404867.3_Silent_p.A882A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	882	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A882A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTGCAGCGGGCGATGCCAG	0.652000													5	7					0	0	0.217242	0	0
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:26533740C>T	ENST00000333478.6	-	8	2841	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR113_ENST00000541401.1_Silent_p.L555L|GPR113_ENST00000421160.2_Silent_p.L883L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.L952L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L952L(2)|p.L753L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAAGGTCTCAGCAACTTCA	0.582000													7	19					0	0	0.307466	0	0
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:31422674C>A	ENST00000389202.2	+	14	1592	c.1543C>A	c.(1543-1545)Cac>Aac	p.H515N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	515					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H515N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGCAGGGCCACCCCTGGGG	0.622000													139	317					3.97272e-78	5.43694e-78	0.870114	1	0
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:151520208A>C	ENST00000535741.1	-	38	6470	c.5997T>G	c.(5995-5997)ccT>ccG	p.P1999P	LRBA_ENST00000510413.1_Silent_p.P1999P|LRBA_ENST00000507224.1_Silent_p.P1999P|LRBA_ENST00000357115.3_Silent_p.P1999P			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.P1999P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGATCCTAGAGGGTTACGCA	0.502000													31	102					0	0	0.760397	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:67829219T>A	ENST00000433211.1	-	15	2180	c.2006A>T	c.(2005-2007)gAa>gTa	p.E669V	CTNNA3_ENST00000373735.1_Missense_Mutation_p.E8V|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E669V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	669					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.E669V(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTTCTTTTTCTGCCTCAGG	0.348000													56	206					0	0	0.870114	0	0
ADCY10	55811	broad.mit.edu	37	1	167830153	167830153	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:167830153C>G	ENST00000367848.1	-	15	1986	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	ADCY10_ENST00000545172.1_Missense_Mutation_p.D436H|ADCY10_ENST00000367851.4_Missense_Mutation_p.D589H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.D589H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTTTTCATCCAACAGTGTC	0.403000													86	599					0	0	0.870114	0	0
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55846499G>C	ENST00000322678.1	+	1	502	c.502G>C	c.(502-504)Gac>Cac	p.D168H	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D168H(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CGAATTCTGTGACTCCAATGC	0.448000													155	243					0	0	0.870114	0	0
ADCY8	114	broad.mit.edu	37	8	131955633	131955633	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131955633G>C	ENST00000286355.5	-	4	3409	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L439L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L439L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGCTCGTTGAGCATCCTGA	0.473000										HNSCC(32;0.087)			8	93					0	0	0.335167	0	0
SYT11	23208	broad.mit.edu	37	1	155838184	155838184	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:155838184G>C	ENST00000368324.4	+	2	716	c.463G>C	c.(463-465)Gat>Cat	p.D155H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	155						cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCCAGAGGAGGATGTCATGCT	0.517000													52	463					0	0	0.870114	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37546891G>T	ENST00000299824.1	+	11	1475	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R387L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	429					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R429L(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGCCTCCGGGCTCCGGTC	0.597000													98	163					7.81258e-50	1.03907e-49	0.870114	1	0
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:156136166G>T	ENST00000329476.3	+	2	1564	c.1075G>T	c.(1075-1077)Gct>Tct	p.A359S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A359S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.A359S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GACATTCAAGGCTAAAAAGAA	0.498000													25	71					2.79863e-10	3.11361e-10	0.681144	1	0
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:49458380C>T	ENST00000358791.5	+	4	532	c.432C>T	c.(430-432)gcC>gcT	p.A144A	BCAS4_ENST00000371608.2_Silent_p.A144A|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	144						cytoplasm		p.A144A(6)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACCATGGGGCCTTCCCTCAGG	0.652000													19	37					0	0	0.654019	0	0
RYR3	6263	broad.mit.edu	37	15	34021153	34021153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:34021153G>T	ENST00000389232.4	+	47	7199	c.7129G>T	c.(7129-7131)Gat>Tat	p.D2377Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D2377Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2377	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D2377Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCATTAAGGATCAAACTTT	0.453000													15	35					3.52763e-06	3.72093e-06	0.520397	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:125298590C>A	ENST00000538699.1	-	2	1398	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.E440*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440								p.E440*(4)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTTCATCTCCGGCCAGTTG	0.577000													23	63					1.2476e-16	1.4509e-16	0.706142	1	0
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15103747G>T	ENST00000378217.3	+	5	534	c.347G>T	c.(346-348)aGa>aTa	p.R116I	OLAH_ENST00000378228.3_Missense_Mutation_p.R63I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	63					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.R116I(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTCCTGGAAGAGAAAGCAGA	0.423000													32	36					2.20262e-25	2.68984e-25	0.769981	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178506897G>C	ENST00000315475.6	+	5	1770	c.1464G>C	c.(1462-1464)agG>agC	p.R488S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R488S(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACATGAGAGGATCCACACTG	0.393000													14	108					0	0	0.457914	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745530	135745530	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:135745530C>G	ENST00000375845.3	-	7	942	c.912G>C	c.(910-912)aaG>aaC	p.K304N	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K191N|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K321N	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.K304N(1)									AGTTTTCCTCCTTCTCCAGGC	0.408000													18	147					0	0	0.592651	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285753	85285753	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:85285753T>C	ENST00000450363.3	-	2	605	c.147A>G	c.(145-147)acA>acG	p.T49T	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.T49T|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCAACATCTGTATCTTTCT	0.403000													58	395					0	0	0.870114	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718234	2718234	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:2718234G>A	ENST00000320876.6	+	18	2676		c.e18+1		RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization		ATP binding	p.?(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAAAAATGGGTGAGTTCTTA	0.284000													18	70					0	0	0.654019	0	0
NGDN	25983	broad.mit.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:23945466G>C	ENST00000397154.3	+	8	576	c.563G>C	c.(562-564)cGg>cCg	p.R188P	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000408901.3_Missense_Mutation_p.R188P			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468000													14	111					0	0	0.479597	0	0
GPR158	57512	broad.mit.edu	37	10	25464889	25464889	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25464889C>A	ENST00000376351.3	+	1	899	c.540C>A	c.(538-540)acC>acA	p.T180T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	180						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T180T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTTCAGCACCGATTCGCTGT	0.667000													3	9					0.115264	0.115739	0.115264	1	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:124294222G>T	ENST00000356130.3	-	1	567	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000													20	196					1.50039e-11	1.68982e-11	0.608945	1	0
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:39898382G>T	ENST00000597629.1	+	2	116		c.e2-1		ZFP36_ENST00000248673.3_Splice_Site|ZFP36_ENST00000594045.1_Splice_Site			P26651	TTP_HUMAN	ZFP36 ring finger protein						positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.?(2)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCGCAGAGCCTCCTGT	0.672000													64	99					7.7321e-48	1.02094e-47	0.870114	1	0
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007293C>T	ENST00000332249.4	-	1	922	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275I(2)|p.V290I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATGGACATGATGGGGT	0.502000													25	107					0	0	0.681144	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42407924G>T	ENST00000599846.1	+	21	2198	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	ARHGEF1_ENST00000337665.4_Silent_p.L650L|ARHGEF1_ENST00000354532.3_Silent_p.L635L|ARHGEF1_ENST00000378152.4_Silent_p.L617L|ARHGEF1_ENST00000347545.4_Silent_p.L602L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	635	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.L650L(2)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCCTATGCTGAGCGAGTTCA	0.627000													3	10					0.184627	0.185007	0.184627	1	0
KRT82	3888	broad.mit.edu	37	12	52788852	52788852	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52788852G>T	ENST00000257974.2	-	9	1526	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGCTCGCAGGGGACATAGA	0.632000													10	30					1.76689e-08	1.92334e-08	0.335167	1	0
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:49842403G>T	ENST00000340652.3	+	3	1349	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		p.E265*(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCCTGTGTACGAGCCTGATCA	0.577000													60	168					1.73933e-33	2.20889e-33	0.870114	1	0
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49720763C>G	ENST00000296456.5	+	22	2587	c.2187C>G	c.(2185-2187)caC>caG	p.H729Q	APEH_ENST00000438011.1_Missense_Mutation_p.H734Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	729					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.H729Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACGCACACACTTGGGCAGCT	0.567000													7	26					0	0	0.248553	0	0
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	C	G	rs145638188	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:76455187C>G	ENST00000389840.5	-	61	9839	c.9715G>C	c.(9715-9717)Gag>Cag	p.E3239Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3248Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607000													4	67					0	0	0.217242	0	0
SLPI	6590	broad.mit.edu	37	20	43881764	43881764	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43881764C>A	ENST00000338380.2	-	3	293	c.273G>T	c.(271-273)gtG>gtT	p.V91V		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	91	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity	p.V91V(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGCCATAAGTCACTGGGCACT	0.517000													95	219					3.6033e-41	4.69006e-41	0.870114	1	0
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49897671G>C	ENST00000477224.1	-	10	1353	c.875C>G	c.(874-876)tCt>tGt	p.S292C	CAMKV_ENST00000467248.1_Missense_Mutation_p.S217C|CAMKV_ENST00000463537.1_Missense_Mutation_p.S292C|CAMKV_ENST00000296471.7_Missense_Mutation_p.S264C|CAMKV_ENST00000466940.1_Missense_Mutation_p.S249C|CAMKV_ENST00000488336.1_Missense_Mutation_p.S292C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S292C(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTTCTTATCAGAAGCAGCATT	0.488000													15	41					0	0	0.520397	0	0
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:155500537C>A	ENST00000461783.3	+	14	3927	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.P885Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.P221Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P909Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.P261Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.P885Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P885Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.P197Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.P885Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGTCTTTCCACTAAATGTT	0.373000													131	206					1.72601e-52	2.29978e-52	0.870114	1	0
DCDC1	341019	broad.mit.edu	37	11	31115602	31115602	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:31115602T>A	ENST00000597505.1	-	14	2112	c.2113A>T	c.(2113-2115)Acc>Tcc	p.T705S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.T324S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTACCTTGGTGATCAGCCAC	0.537000													62	401					0	0	0.870114	0	0
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56310672G>A	ENST00000528616.2	-	1	85	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTGGAGTTCCGGGCAATCTGT	0.458000													86	265					0	0	0.870114	0	0
RIMS2	9699	broad.mit.edu	37	8	104987722	104987722	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:104987722C>T	ENST00000507740.1	+	13	2527	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L	RIMS2_ENST00000262231.10_Missense_Mutation_p.P811L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P972L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P750L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1034					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P764L(2)|p.P1039L(1)|p.P750L(1)|p.P972L(1)		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)			CCCAGTGTCCCTCCTCCACAA	0.413000										HNSCC(12;0.0054)			19	96					0	0	0.592651	0	0
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86578265T>C	ENST00000370571.2	-	5	1950	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	COL24A1_ENST00000436319.1_Silent_p.G528G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	528	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.G528G(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCAGGTAATCCAGGTAAAC	0.388000													52	136					0	0	0.870114	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10205580	10205580	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10205580G>T	ENST00000253109.4	-	3	855	c.617C>A	c.(616-618)cCg>cAg	p.P206Q	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P206Q|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P206Q	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	206					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	p.P206Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAGACGGACCGGAACCACAGG	0.632000													3	6					0.004672	0.00474333	0.115264	1	0
OIT3	170392	broad.mit.edu	37	10	74660219	74660219	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:74660219G>T	ENST00000334011.5	+	3	739	c.521G>T	c.(520-522)gGc>gTc	p.G174V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	174						nuclear envelope	calcium ion binding	p.G174V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACTGTGCTAGGCCCTGACAGG	0.473000													17	147					5.03518e-11	5.65347e-11	0.557998	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754809	140754809	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140754809C>G	ENST00000517434.1	+	1	1159	c.1159C>G	c.(1159-1161)Ccg>Gcg	p.P387A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P387A(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCATCCCGAGAAGTCT	0.443000													8	41					0	0	0.278610	0	0
AHR	196	broad.mit.edu	37	7	17367416	17367416	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:17367416G>A	ENST00000242057.4	+	4	1037	c.394G>A	c.(394-396)Gat>Aat	p.D132N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	132	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTCACTACAGATGCTTTGGT	0.279000													7	168					0	0	0.361761	0	0
CASZ1	54897	broad.mit.edu	37	1	10720135	10720135	+	Missense_Mutation	SNP	C	C	T	rs139953654		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:10720135C>T	ENST00000377022.3	-	6	1281	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	CASZ1_ENST00000344008.5_Missense_Mutation_p.G322S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G322S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGATTCTCGCCGGTCTTCAGT	0.587000													4	87					0	0	0.217242	0	0
ALG13	79868	broad.mit.edu	37	X	110970597	110970597	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:110970597G>T	ENST00000394780.3	+	17	2026	c.2014G>T	c.(2014-2016)Ggc>Tgc	p.G672C	ALG13_ENST00000251943.4_Missense_Mutation_p.G568C|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	672					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.G568C(1)|p.G73C(1)|p.G672C(1)		endometrium(2)|lung(10)|skin(1)	13						CAACATGCCGGGCCCTAAAGT	0.398000													16	29					4.35082e-09	4.77155e-09	0.592651	1	0
ZBTB26	57684	broad.mit.edu	37	9	125682102	125682102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125682102G>A	ENST00000373656.3	-	2	185	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	ZBTB26_ENST00000373654.1_Missense_Mutation_p.L38F	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L38F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCATCTATGAGAACTGTAACA	0.333000													7	41					0	0	0.307466	0	0
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:46620584G>C	ENST00000296145.5	+	2	768		c.e2-1		LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Splice_Site	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.?(2)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTCTTCCTAGTGTGATTTGG	0.413000													31	146					0	0	0.853193	0	0
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:1483437T>C	ENST00000300954.5	-	12	1478	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	473					proteolysis	integral to membrane	serine-type endopeptidase activity	p.R473G(2)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTTTCCCTGATGTAGATC	0.701000													2	1					0	0	0.217242	0	0
KLHL28	54813	broad.mit.edu	37	14	45415050	45415050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45415050G>C	ENST00000396128.4	-	2	201	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433000													23	185					0	0	0.693898	0	0
H2AFV	94239	broad.mit.edu	37	7	44875224	44875224	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44875224G>C	ENST00000222690.6	-	4	334	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	H2AFV_ENST00000446531.1_Missense_Mutation_p.L77V|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.L51V|H2AFV_ENST00000349299.3_Missense_Mutation_p.L39V|H2AFV_ENST00000308153.4_Missense_Mutation_p.L77V|H2AFV_ENST00000437072.1_Missense_Mutation_p.L39V|H2AFV_ENST00000521529.1_Intron	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L77V(1)|p.L77I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTTACTTTGAGATCCTTAGAA	0.463000													20	144					0	0	0.681144	0	0
VWA5A	4013	broad.mit.edu	37	11	123988412	123988412	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:123988412A>T	ENST00000456829.2	+	4	327	c.76A>T	c.(76-78)Att>Ttt	p.I26F	VWA5A_ENST00000449321.1_Missense_Mutation_p.I26F|VWA5A_ENST00000392744.4_Missense_Mutation_p.I42F|VWA5A_ENST00000392748.1_Missense_Mutation_p.I26F|VWA5A_ENST00000361352.5_Missense_Mutation_p.I26F|VWA5A_ENST00000360334.4_Missense_Mutation_p.I26F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	26	VIT.							p.I26F(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAGCGTGAACATTTACGAGTT	0.458000													46	165					0	0	0.870114	0	0
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36699915C>G	ENST00000255448.4	-	2	571	c.360G>C	c.(358-360)ctG>ctC	p.L120L	DCLK1_ENST00000379892.4_Silent_p.L120L|DCLK1_ENST00000360631.3_Silent_p.L120L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.L120L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTGGTCCAGGCTGGAAA	0.522000													22	45					0	0	0.681144	0	0
HRH1	3269	broad.mit.edu	37	3	11301829	11301829	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:11301829C>G	ENST00000397056.1	+	3	1297	c.1106C>G	c.(1105-1107)aCa>aGa	p.T369R	HRH1_ENST00000438284.2_Missense_Mutation_p.T369R|HRH1_ENST00000431010.2_Missense_Mutation_p.T369R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.T369R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCACAGAGACAGCACCAGGC	0.502000													9	152					0	0	0.411799	0	0
HDC	3067	broad.mit.edu	37	15	50534774	50534774	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50534774G>T	ENST00000267845.3	-	12	2074	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	HDC_ENST00000543581.1_Missense_Mutation_p.P525T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	558					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTGGCATCTGGGGCCTCTTCT	0.547000													55	94					1.13205e-32	1.43268e-32	0.870114	1	0
GRIK3	2899	broad.mit.edu	37	1	37319301	37319301	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:37319301C>A	ENST00000373091.3	-	8	1143	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.G376V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	376					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	p.G376V(2)		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)	AACAATTCGTCCAGTTAATCC	0.493000													8	41					1.5842e-08	1.72962e-08	0.435327	1	0
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:163387C>T	ENST00000606975.1	-	0	534																											CACAGCCTGTCTGATCTGGTG	0.468000													3	21					0	0	0.115264	0	0
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72409924G>A	ENST00000395270.1	+	10	1663	c.622G>A	c.(622-624)Gac>Aac	p.D208N	POM121_ENST00000257622.4_Missense_Mutation_p.D208N|POM121_ENST00000446813.1_Missense_Mutation_p.D208N|POM121_ENST00000434423.2_Missense_Mutation_p.D473N|POM121_ENST00000358357.3_Missense_Mutation_p.D208N	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	473	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.D208N(4)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTGGCAGCAGACAGGGAGTC	0.488000													8	20					0	0	0.335167	0	0
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:85863297C>T	ENST00000304195.3	-	14	1536	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	FRMD3_ENST00000376434.1_Missense_Mutation_p.E250K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E101K|FRMD3_ENST00000376438.1_Missense_Mutation_p.E444K|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E444K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TACACTAGTTCAGAGATGGTT	0.493000													39	135					0	0	0.827153	0	0
COL24A1	255631	broad.mit.edu	37	1	86554868	86554868	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86554868G>T	ENST00000370571.2	-	7	2062	c.1696C>A	c.(1696-1698)Caa>Aaa	p.Q566K	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q566K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	566	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.M565_Q566>IK(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTATCACCTTGCATACCAGGG	0.333000													19	108					3.6726e-16	4.25754e-16	0.667858	1	0
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:18550453C>A	ENST00000399799.1	-	23	3616	c.2676G>T	c.(2674-2676)ttG>ttT	p.L892F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	892	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L892F(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCTAGATCCAACTGAGTAG	0.378000													59	101					8.35685e-17	9.72639e-17	0.870114	1	0
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28578214G>T	ENST00000380982.4	-	24	3047	c.2966C>A	c.(2965-2967)cCg>cAg	p.P989Q	FLT3_ENST00000241453.7_Missense_Mutation_p.P986Q|FLT3_ENST00000537084.1_Missense_Mutation_p.P945Q|FLT3_ENST00000469894.1_5'UTR			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	986					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P986Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGCGGAGAGAGTAG	0.463000			"""Mis, O"""		"""AML, ALL"""								70	132					1.96331e-54	2.63034e-54	0.870114	1	0
ANKRD36B	57730	broad.mit.edu	37	2	98206188	98206188	+	RNA	SNP	C	C	G	rs1868445	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:98206188C>G	ENST00000443455.1	-	0	139							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTTCCTTAATCGTCGGCTGCA	0.562000													2	9					0	0	0.115264	0	0
ZFP2	80108	broad.mit.edu	37	5	178358866	178358866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178358866A>G	ENST00000361362.2	+	5	1082	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZFP2_ENST00000523286.1_Silent_p.K184K|ZFP2_ENST00000520301.1_Silent_p.K184K|ZFP2_ENST00000503510.2_Silent_p.K184K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K184K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCGGAGAGAAACCCTATCAGT	0.398000													8	61					0	0	0.361761	0	0
PRAME	23532	broad.mit.edu	37	22	22892257	22892257	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22892257C>G	ENST00000543184.1	-	4	1706	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PRAME_ENST00000424204.2_Missense_Mutation_p.E266Q|PRAME_ENST00000402697.1_Missense_Mutation_p.E282Q|PRAME_ENST00000539862.1_Missense_Mutation_p.E266Q|PRAME_ENST00000398741.1_Missense_Mutation_p.E282Q|PRAME_ENST00000405655.3_Missense_Mutation_p.E282Q|PRAME_ENST00000398743.2_Missense_Mutation_p.E282Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	282					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E282Q(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATATACTGCTCTTCCTTCTCC	0.502000													61	79					0	0	0.870114	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30793439C>G	ENST00000458257.1	+	2	258	c.244C>G	c.(244-246)Ctc>Gtc	p.L82V	INMT_ENST00000013222.5_Missense_Mutation_p.L83V|INMT_ENST00000409539.1_Missense_Mutation_p.L82V|INMT_ENST00000484180.1_3'UTR														p.L83V(2)									AGACATCACTCTCTCCGACTT	0.567000													143	282					0	0	0.870114	0	0
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35776497G>T	ENST00000440995.2	+	29	4202	c.4202_splice	c.e29+1	p.S1401_splice	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site_p.S1406_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.S1406I(1)		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)			GAAATGGCCAGGTAAAGTACT	0.308000													66	270					9.16385e-24	1.10891e-23	0.870114	1	0
TRIO	7204	broad.mit.edu	37	5	14363882	14363882	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:14363882G>C	ENST00000344204.4	+	14	2457	c.2433G>C	c.(2431-2433)caG>caC	p.Q811H	TRIO_ENST00000509967.2_Missense_Mutation_p.Q762H|TRIO_ENST00000537187.1_Missense_Mutation_p.Q811H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	811					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.Q811H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCTTTCTCAGCAAATGAATG	0.433000													26	98					0	0	0.750413	0	0
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52327146T>A	ENST00000339223.4	+	2	324	c.145T>A	c.(145-147)Tgg>Agg	p.W49R	FPR3_ENST00000595991.1_Missense_Mutation_p.W49R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	49					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W49R(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTTGTGATCTGGGTGGCTGG	0.552000													261	473					0	0	0.870114	0	0
KIF16B	55614	broad.mit.edu	37	20	16348016	16348016	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16348016C>G	ENST00000408042.1	-	23	4111	c.3954G>C	c.(3952-3954)aaG>aaC	p.K1318N	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K1318N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACATTTTTCTTTTCTGGAA	0.433000													172	574					0	0	0.870114	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:64536211C>T	ENST00000355086.3	+	22	3541	c.3017C>T	c.(3016-3018)aCg>aTg	p.T1006M	SRGAP1_ENST00000543397.1_Missense_Mutation_p.T943M|SRGAP1_ENST00000357825.3_Missense_Mutation_p.T983M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance	cytosol		p.T1006M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCACTTCCACGGAATCTCTC	0.552000													80	134					0	0	0.870114	0	0
ACBD3	64746	broad.mit.edu	37	1	226340111	226340111	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:226340111C>G	ENST00000366812.5	-	7	1354	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	434	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.E434Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCTGTCCATTCAAAATACACC	0.468000													15	324					0	0	0.457914	0	0
MYO18A	399687	broad.mit.edu	37	17	27441092	27441092	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:27441092G>A	ENST00000527372.1	-	15	2715	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	MYO18A_ENST00000531253.1_Silent_p.D845D|MYO18A_ENST00000533112.1_Silent_p.D845D|MYO18A_ENST00000354329.4_Silent_p.D845D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	845	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.D845D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTCCAAGTCGTCAAACGCCA	0.597000													4	9					0	0	0.184627	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603514	111603514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:111603514G>A	ENST00000431670.2	+	2	1001	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PHLDB2_ENST00000412622.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G197E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G224E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	197						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G197E(2)|p.G224E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCAGATCGGGAGCCGCAAGC	0.567000													18	108					0	0	0.693898	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65793536G>C	ENST00000312106.5	-	1	452	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	105	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V105V(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGAGGGGACGGCGCCTT	0.607000													39	128					0	0	0.870114	0	0
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:112406907T>C	ENST00000302475.4	-	10	1802	c.1239A>G	c.(1237-1239)caA>caG	p.Q413Q	MCC_ENST00000515367.2_Silent_p.Q350Q|MCC_ENST00000408903.3_Silent_p.Q603Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	413					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.Q603Q(2)|p.Q413Q(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGTCATTTTGGGATTTGA	0.428000													87	359					0	0	0.870114	0	0
NSFL1C	55968	broad.mit.edu	37	20	1424459	1424459	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:1424459C>A	ENST00000216879.4	-	9	1915	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.D352Y|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D319Y|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D352Y|NSFL1C_ENST00000381658.4_Missense_Mutation_p.D239Y	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	350	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.D350Y(2)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGCTCTCATCAGCCAGCTCT	0.572000													15	95					2.94398e-08	3.19751e-08	0.557998	1	0
ERN1	2081	broad.mit.edu	37	17	62141442	62141442	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:62141442C>A	ENST00000433197.2	-	10	1086	c.991G>T	c.(991-993)Gag>Tag	p.E331*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	331					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E331*(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ATCACACACTCCCCCTTGTCC	0.562000											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					5.18039e-06	5.45638e-06	0.278610	1	0
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:127728854C>A	ENST00000508053.1	-	16	2413	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	FBN2_ENST00000262464.4_Missense_Mutation_p.G480V|FBN2_ENST00000508989.1_Missense_Mutation_p.G447V			P35556	FBN2_HUMAN	fibrillin 2	480					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G480V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTCCCTGTCCCCCGGCCCC	0.512000													38	140					8.94452e-30	1.11464e-29	0.870114	1	0
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5373536C>T	ENST00000380219.1	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P267S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCATGTTCCTCATGTCGT	0.408000													145	447					0	0	0.870114	0	0
ATP5A1	498	broad.mit.edu	37	18	43669547	43669547	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43669547C>G	ENST00000593152.2	-	5	1024	c.485G>C	c.(484-486)gGt>gCt	p.G162A	ATP5A1_ENST00000398752.6_Missense_Mutation_p.G212A|ATP5A1_ENST00000590665.1_Missense_Mutation_p.G190A|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G212A	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	212					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.G212A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CTGTCGGTCACCAATAATCAG	0.408000													15	96					0	0	0.608945	0	0
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40344578C>T	ENST00000301671.8	-	4	1011	c.570G>A	c.(568-570)ctG>ctA	p.L190L	GHDC_ENST00000436923.2_Silent_p.L190L|GHDC_ENST00000428494.2_Silent_p.L151L|GHDC_ENST00000414034.3_Silent_p.L190L|GHDC_ENST00000593209.1_Silent_p.L190L|GHDC_ENST00000587427.1_Silent_p.L190L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	190						endoplasmic reticulum|nuclear envelope		p.L190L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGGGACCTCAGTGCGTCCA	0.652000													11	54					0	0	0.435327	0	0
ERBB4	2066	broad.mit.edu	37	2	212812224	212812224	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:212812224C>A	ENST00000342788.4	-	3	662	c.352G>T	c.(352-354)Gca>Tca	p.A118S	ERBB4_ENST00000402597.1_Missense_Mutation_p.A118S|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.A118S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	118					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A118S(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAAAATATTGCCAAGGCATAT	0.373000										TSP Lung(8;0.080)			19	133					2.37509e-13	2.71466e-13	0.592651	1	0
KRT19	3880	broad.mit.edu	37	17	39681167	39681167	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39681167G>C	ENST00000361566.3	-	3	648	c.588C>G	c.(586-588)gcC>gcG	p.A196A		NM_002276.4	NP_002267.2			keratin 19									p.A196A(1)|p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTCGGTCCTGGCCAGGGTCA	0.572000													9	100					0	0	0.361761	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716438	142716438	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:142716438C>A	ENST00000381779.4	-	2	2712	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E829D|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E829D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	829						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTTGCTCCTCAAGGACCT	0.403000													23	47					6.32553e-13	7.20736e-13	0.681144	1	0
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007353A>T	ENST00000332249.4	-	1	862	c.808T>A	c.(808-810)Tat>Aat	p.Y270N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y255N(2)|p.Y270N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGACATAGAAGACCAGG	0.517000													58	208					0	0	0.870114	0	0
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74094015C>A	ENST00000607838.1	-	5	596	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	EXOC7_ENST00000405575.4_Missense_Mutation_p.V168L|EXOC7_ENST00000335146.7_Missense_Mutation_p.V168L|EXOC7_ENST00000589210.1_Missense_Mutation_p.V168L|EXOC7_ENST00000411744.2_Missense_Mutation_p.V168L|EXOC7_ENST00000332065.5_Missense_Mutation_p.V168L|EXOC7_ENST00000467929.2_Missense_Mutation_p.V127L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	168					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	p.V168L(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATGAGCACGGGCGAGACG	0.592000													29	134					1.84765e-07	1.98466e-07	0.788014	1	0
ABHD2	11057	broad.mit.edu	37	15	89695002	89695002	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89695002C>T	ENST00000352732.5	+	4	809	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	ABHD2_ENST00000565973.1_Missense_Mutation_p.H97Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.H97Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	97						integral to membrane	carboxylesterase activity	p.H97Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTTATGGGCACCGGAAGTT	0.507000													64	744					0	0	0.870114	0	0
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:21698923A>T	ENST00000388958.3	+	7	590	c.589A>T	c.(589-591)Aca>Tca	p.T197S	OTOA_ENST00000388956.4_Missense_Mutation_p.T118S|OTOA_ENST00000286149.4_Missense_Mutation_p.T197S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	197					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.T197S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGACATCACAGAGCGGCT	0.527000													8	36					0	0	0.307466	0	0
TTC18	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75095212T>C	ENST00000310715.3	-	8	983	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	TTC18_ENST00000394865.1_Missense_Mutation_p.Y288C|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.Y288C	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	288							binding	p.Y288C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGATCAAGGTAGCAGCGACT	0.393000													21	104					0	0	0.729181	0	0
BRS3	680	broad.mit.edu	37	X	135570317	135570317	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135570317C>G	ENST00000370648.3	+	1	272	c.44C>G	c.(43-45)tCa>tGa	p.S15*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	15					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.S15*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACTTTAATTTCAATCACAAAT	0.388000													9	41					0	0	0.335167	0	0
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:30704584C>T	ENST00000256246.2	-	1	2024	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	650								p.T650T(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTTATCCGTATCAATTT	0.299000													16	43					0	0	0.575678	0	0
CHST11	50515	broad.mit.edu	37	12	105150924	105150924	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105150924C>T	ENST00000303694.5	+	3	841	c.402C>T	c.(400-402)ctC>ctT	p.L134L	CHST11_ENST00000549260.1_Silent_p.L129L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	134					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.L134L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAAGCGGCTCATGATGGTCC	0.612000													21	124					0	0	0.639603	0	0
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:71977541G>A	ENST00000266674.5	+	18	2062	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	LGR5_ENST00000536515.1_Missense_Mutation_p.R512K|LGR5_ENST00000540815.2_Missense_Mutation_p.R560K|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	584						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGTTTTCAGATCCCCTCTG	0.493000													43	251					0	0	0.870114	0	0
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:11185641T>A	ENST00000379446.5	-	7	2425	c.2259A>T	c.(2257-2259)gcA>gcT	p.A753A	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.A753A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	753	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	p.A753A(6)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCAGTTTGTGTGCACTGAGGA	0.547000													69	142					0	0	0.870114	0	0
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:13702486T>A	ENST00000357447.2	-	20	2096	c.1728A>T	c.(1726-1728)ccA>ccT	p.P576P	FRMD4A_ENST00000378503.1_Silent_p.P576P|FRMD4A_ENST00000358621.4_Silent_p.P561P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576						cytoplasm|cytoskeleton	binding	p.P576P(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCGACGGTGGCCGAGGAG	0.562000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	30					0	0	0.834066	0	0
MALAT1	378938	broad.mit.edu	37	11	65272908	65272908	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65272908A>T	ENST00000534336.1	+	0	7676					NR_002819.2																						TTAATAATAAAGCCCAAATCT	0.473000													12	70					0	0	0.411799	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769466	176769466	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:176769466C>G	ENST00000430069.1	-	5	512	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D85H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	85	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D85H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATTACGGCATCTATCAGGGAC	0.443000													12	109					0	0	0.479597	0	0
HMCN1	83872	broad.mit.edu	37	1	186014906	186014906	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:186014906C>T	ENST00000271588.4	+	41	6620	c.6391C>T	c.(6391-6393)Ccc>Tcc	p.P2131S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2131S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2131	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P2131S(1)		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						TGATGCTATTCCCCCACCTAC	0.418000													15	154					0	0	0.575678	0	0
MYOM3	127294	broad.mit.edu	37	1	24401952	24401952	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:24401952G>A	ENST00000330966.7	-	22	2880	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.I905I|MYOM3_ENST00000329601.7_Silent_p.I905I|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	905								p.I905I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCAACCTCGATCTCATGGG	0.537000													13	55					0	0	0.575678	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481775	27481775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27481775G>T	ENST00000233535.4	-	2	475	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC30A3_ENST00000447008.2_Silent_p.L36L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	41					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.L41L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCTCAGGGAGGGGCTCTG	0.647000													13	16					1.49906e-05	1.56876e-05	0.457914	1	0
IPPK	64768	broad.mit.edu	37	9	95420957	95420957	+	Missense_Mutation	SNP	C	C	T	rs148572533		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:95420957C>T	ENST00000287996.3	-	2	364	c.88G>A	c.(88-90)Gtc>Atc	p.V30I		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	30					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	p.V30I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CGCAGCACGACGCAGCGCTGT	0.433000													7	29					0	0	0.278610	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33097430	33097430	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:33097430A>C	ENST00000468695.1	-	5	432	c.414T>G	c.(412-414)atT>atG	p.I138M	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8OS_ENST00000373501.2_Intron|ZBTB8OS_ENST00000492007.1_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	126								p.I138M(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAACTTACCCAATTGATCGTA	0.294000													3	28					0	0	0.150653	0	0
BCHE	590	broad.mit.edu	37	3	165491239	165491239	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:165491239A>G	ENST00000264381.3	-	4	1906	c.1740T>C	c.(1738-1740)aaT>aaC	p.N580N	BCHE_ENST00000540653.1_Silent_p.N42N	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.N580N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCATCATGTAATTGTTCCAGC	0.313000													13	40					0	0	0.479597	0	0
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35370326G>T	ENST00000378495.3	+	12	1448	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	UNC13B_ENST00000396787.1_Missense_Mutation_p.G421V|UNC13B_ENST00000378496.4_Missense_Mutation_p.G409V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	409					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.G409V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCCGGAGGGCTCTATGGC	0.512000													62	70					1.15062e-32	1.45493e-32	0.870114	1	0
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:155171561C>T	ENST00000262640.6	+	7	624	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	VAMP7_ENST00000286448.6_Silent_p.I203I|VAMP7_ENST00000460621.1_Silent_p.I162I|VAMP7_ENST00000479687.1_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348000													37	207					0	0	0.853193	0	0
C11orf82	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:82643578G>C	ENST00000533655.1	+	6	1410	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.E99Q|C11orf82_ENST00000430323.2_Missense_Mutation_p.E400Q	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	400					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.E400Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGACTTGAAGAGACAGCCAG	0.463000													140	516					0	0	0.870114	0	0
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:24920559A>G	ENST00000405141.1	+	12	1552	c.841A>G	c.(841-843)Aga>Gga	p.R281G	NCOA1_ENST00000348332.3_Missense_Mutation_p.R281G|NCOA1_ENST00000288599.5_Missense_Mutation_p.R281G|NCOA1_ENST00000407230.1_Missense_Mutation_p.R130G|NCOA1_ENST00000406961.1_Missense_Mutation_p.R281G|NCOA1_ENST00000395856.3_Missense_Mutation_p.R281G|NCOA1_ENST00000538539.1_Missense_Mutation_p.R281G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	281								p.R281G(4)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTTCCCTGAGAGCTGCTGG	0.368000			T	PAX3	alveolar rhadomyosarcoma								44	61					0	0	0.870114	0	0
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:34263448C>G	ENST00000607016.1	-	3	536	c.225G>C	c.(223-225)ggG>ggC	p.G75G	RP1-187N21.4_ENST00000605528.1_Silent_p.G194G	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3									p.G75G(2)		lung(2)	2						TTCCCAATGTCCCTTTTACTC	0.308000													12	88					0	0	0.539581	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212971	26212971	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:26212971G>T	ENST00000379034.1	+	2	1157	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	336	MAGE.							p.L336F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGAAGATTTGGTGCAAGATA	0.498000													28	116					3.30712e-30	4.13885e-30	0.870114	1	0
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:107816974A>T	ENST00000379028.3	-	27	3522	c.3052T>A	c.(3052-3054)Tta>Ata	p.L1018I	NRCAM_ENST00000379022.4_Missense_Mutation_p.L1018I|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1002I|NRCAM_ENST00000413765.2_Missense_Mutation_p.L999I|NRCAM_ENST00000425651.2_Missense_Mutation_p.L1018I|NRCAM_ENST00000379024.4_Missense_Mutation_p.L999I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1018	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.L1002I(2)|p.L1018I(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGAAATTTAAATTTTTTAAA	0.363000													37	42					0	0	0.840704	0	0
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36194191A>G	ENST00000242108.4	+	2	976	c.258A>G	c.(256-258)gtA>gtG	p.V86V	EEPD1_ENST00000534978.1_Silent_p.V86V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	86					DNA repair		DNA binding	p.V86V(2)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCAGTGGTGTAGGCGCCACCA	0.612000													5	16					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:9072073C>A	ENST00000397910.4	-	3	15576	c.15373G>T	c.(15373-15375)Gag>Tag	p.E5125*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGGTCTCTTCTGTGTTT	0.438000													114	170					6.25226e-48	8.26292e-48	0.870114	1	0
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	A	rs148252365		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47882629C>A	ENST00000289672.2	-	34	5426	c.5376G>T	c.(5374-5376)ctG>ctT	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468000													15	58					5.35267e-07	5.70769e-07	0.557998	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683365	140683365	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140683365C>T	ENST00000239451.4	-	1	247	c.68G>A	c.(67-69)tGt>tAt	p.C23Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGTCAGTACACACGCTGTCCC	0.597000													7	74					0	0	0.387290	0	0
ASTN1	460	broad.mit.edu	37	1	176915180	176915180	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176915180C>T	ENST00000367654.2	-	13	2168	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D711N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D711N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D711N|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	719					cell migration|neuron cell-cell adhesion	integral to membrane		p.D711N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCACAGTCACTTCCCTCT	0.532000													50	321					0	0	0.870114	0	0
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:38188721A>G	ENST00000373048.4	-	10	1951	c.1952T>C	c.(1951-1953)cTt>cCt	p.L651P	EPHA10_ENST00000540011.1_Missense_Mutation_p.L146P|EPHA10_ENST00000427468.2_Missense_Mutation_p.L651P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.L146P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	651	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.L652P(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCCTCCAAGGCTCCTCTC	0.617000													10	21					0	0	0.411799	0	0
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152281538G>T	ENST00000368799.1	-	3	5859	c.5824C>A	c.(5824-5826)Cat>Aat	p.H1942N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAAGATGGTTTCTGGAA	0.572000									Ichthyosis				188	256					1.16735e-107	1.61726e-107	0.870114	1	0
TNRC18	84629	broad.mit.edu	37	7	5399080	5399080	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:5399080C>A	ENST00000399537.4	-	15	5130	c.4782G>T	c.(4780-4782)ggG>ggT	p.G1594G	TNRC18_ENST00000430969.1_Silent_p.G1594G			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1594							DNA binding	p.G1594G(2)|p.G649G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTGGTTCCTCCCCCTGGCTT	0.522000													8	181					2.17888e-05	2.27693e-05	0.335167	1	0
SLC9C2	284525	broad.mit.edu	37	1	173567171	173567171	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173567171C>A	ENST00000367714.3	-	4	651	c.228_splice	c.e4-1	p.V77_splice	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	77					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V77L(1)									ATTTGGTGCACCTAAAGTAAC	0.299000													23	117					7.01153e-11	7.84241e-11	0.717897	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200730088	200730088	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200730088C>G	ENST00000358823.2	+	2	531	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CAMSAP2_ENST00000413307.2_Silent_p.L87L|CAMSAP2_ENST00000236925.4_Silent_p.L87L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	87						cytoplasm|microtubule	protein binding	p.L87L(1)									CTGGGAGTCTCATTCTCAAGA	0.433000													60	357					0	0	0.870114	0	0
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	G	C	rs144091327	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27603003G>C	ENST00000323703.6	-	2	366	c.168C>G	c.(166-168)gaC>gaG	p.D56E	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.D56E(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTTGCCGTCGCCTTCCT	0.582000													19	79					0	0	0.639603	0	0
TBATA	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72541683G>T	ENST00000299290.1	-	4	540	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	TBATA_ENST00000456372.2_Silent_p.R51R|TBATA_ENST00000545575.1_Silent_p.R41R	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597000													17	34					3.41278e-10	3.79112e-10	0.520397	1	0
SNORD114-4	767580	broad.mit.edu	37	14	101420712	101420712	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:101420712G>C	ENST00000363962.1	+	0	2					NR_003196.1																						TCCTAAGCCTGAGCCAGTGAT	0.328000													17	58					0	0	0.592651	0	0
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:97605318C>T	ENST00000371203.5	+	5	951	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*|ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q260*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					cell adhesion	integral to plasma membrane	ATP binding	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502000													57	302					0	0	0.870114	0	0
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40095333G>T	ENST00000591658.1	+	0	1034							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L322F(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAAACTTGTATAGCTGCA	0.512000													20	43					7.45023e-12	8.41674e-12	0.592651	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140515957A>C	ENST00000231134.5	+	1	1158	c.941A>C	c.(940-942)tAt>tCt	p.Y314S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y314S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCATATTATAACGTGGAA	0.453000													29	127					0	0	0.740014	0	0
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:84339310T>C	ENST00000295488.3	-	16	3161	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	HELQ_ENST00000510985.1_Missense_Mutation_p.K933R	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1000							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K1000R(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTCAGCTTCTTGGTAAGTTC	0.348000								Other identified genes with known or suspected DNA repair function					74	92					0	0	0.870114	0	0
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:236918345C>T	ENST00000366578.4	+	17	2167	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ACTN2_ENST00000546208.1_Silent_p.I161I|ACTN2_ENST00000542672.1_Silent_p.I667I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	667					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.I667I(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCCAGATCACAGGAGCCC	0.557000													32	230					0	0	0.779181	0	0
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51738435G>T	ENST00000436584.2	+	4	443	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	CD33_ENST00000391796.3_Missense_Mutation_p.V257L|CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000262262.4_Missense_Mutation_p.V257L			P20138	CD33_HUMAN	CD33 molecule	257	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483000													79	136					4.69036e-40	6.07256e-40	0.870114	1	0
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:110098260G>A	ENST00000230124.3	+	16	2010	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	FIG4_ENST00000441478.2_Missense_Mutation_p.R352K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	629					cell death	endosome membrane	protein binding	p.R629K(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCAACAAGAAGAAGGTATTTT	0.353000													10	58					0	0	0.435327	0	0
DEGS1	8560	broad.mit.edu	37	1	224377623	224377623	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224377623G>A	ENST00000323699.4	+	2	593	c.427G>A	c.(427-429)Gat>Aat	p.D143N	DEGS1_ENST00000391877.3_Missense_Mutation_p.D143N|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	143					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	p.D143N(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGTCGATGTAGATATTCCTAC	0.408000													25	219					0	0	0.729181	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143955876T>A	ENST00000292427.4	-	9	1457	c.1425A>T	c.(1423-1425)acA>acT	p.T475T	CYP11B1_ENST00000517471.1_Silent_p.T409T|CYP11B1_ENST00000377675.3_Silent_p.T546T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	475					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T475T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGTTAGTGTCTCCACCT	0.542000									Familial Hyperaldosteronism type I				95	234					0	0	0.870114	0	0
OTOGL	283310	broad.mit.edu	37	12	80714208	80714208	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:80714208C>T	ENST00000458043.2	+	33	3788	c.3782C>T	c.(3781-3783)gCa>gTa	p.A1261V	OTOGL_ENST00000547103.1_Missense_Mutation_p.A1261V	NM_173591.3	NP_775862.3			otogelin-like									p.A1261V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAGCATTAGCACTTGTTTCC	0.388000													12	93					0	0	0.539581	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112972	39112972	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39112972G>C	ENST00000216044.5	+	4	1034	c.801G>C	c.(799-801)atG>atC	p.M267I		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	267					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.M267I(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCTTCGGCATGACAGGCCATC	0.552000													53	281					0	0	0.870114	0	0
DMD	1756	broad.mit.edu	37	X	32383266	32383266	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:32383266T>C	ENST00000357033.4	-	35	5102	c.4896A>G	c.(4894-4896)acA>acG	p.T1632T	DMD_ENST00000378677.2_Silent_p.T1628T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1632	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T1627T(1)|p.T1628T(1)|p.T1632T(1)|p.T291T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCCTACCTCTGTGATACTCT	0.433000													15	111					0	0	0.608945	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29432450	29432450	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:29432450C>T	ENST00000283351.4	-	24	3855	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1120K	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1174					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.E1174K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTATATTTTTCAGAGGACTGT	0.328000													7	149					0	0	0.278610	0	0
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:135440237C>T	ENST00000443774.1	-	1	59	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522000													7	226					0	0	0.361761	0	0
PRKCI	5584	broad.mit.edu	37	3	170016870	170016870	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:170016870G>C	ENST00000295797.4	+	17	1980	c.1675G>C	c.(1675-1677)Gaa>Caa	p.E559Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	559	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.E550Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTTTACTAATGAACCTGTCCA	0.358000													15	160					0	0	0.500413	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014861G>A	ENST00000379727.3	-	2	776	c.578C>T	c.(577-579)tCa>tTa	p.S193L	CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S193L|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S193L|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S193L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	193					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.S193L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATTGGTCACTGATACCACCAC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				20	53					0	0	0.639603	0	0
SNAP25	6616	broad.mit.edu	37	20	10286806	10286806	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:10286806G>T	ENST00000254976.2	+	8	793	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E194D|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	194	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.E194D(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GAATTGATGAGGCCAACCAAC	0.483000													116	310					1.73106e-74	2.35585e-74	0.870114	1	0
THSD7A	221981	broad.mit.edu	37	7	11450869	11450869	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11450869C>A	ENST00000423059.3	-	19	4014	c.3763G>T	c.(3763-3765)Gat>Tat	p.D1255Y	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1255	TSP type-1 12.					integral to membrane		p.D1255Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACTTGCCATCACTTCGAACA	0.408000										HNSCC(18;0.044)			15	159					1.3612e-06	1.44412e-06	0.479597	1	0
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Nonstop_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:34889224A>T	ENST00000381539.3	+	10	1177	c.1173A>T	c.(1171-1173)tgA>tgT	p.*391C	NPSR1_ENST00000381542.1_Missense_Mutation_p.E292V|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000360581.1_Missense_Mutation_p.E358V			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.E358V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGAGAACTGAGAGGCATGAG	0.488000													104	275					0	0	0.870114	0	0
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116426548C>A	ENST00000395715.3	-	7	4165	c.3588G>T	c.(3586-3588)gaG>gaT	p.E1196D	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1187D|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1183D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E937D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1183	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1196D(2)|p.E1183D(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCGTTTTCTCCTTGGAGG	0.413000									Langer-Giedion syndrome				9	78					2.17888e-05	2.27693e-05	0.335167	1	0
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26919437C>T	ENST00000321765.5	-	3	1157	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.M275I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCTTTCCTCCATAGCTCCAT	0.473000													14	42					0	0	0.479597	0	0
PPM1F	9647	broad.mit.edu	37	22	22280013	22280013	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22280013G>A	ENST00000407142.1	-	5	1470	c.410C>T	c.(409-411)gCa>gTa	p.A137V	PPM1F_ENST00000397495.4_Missense_Mutation_p.A305V|PPM1F_ENST00000263212.5_Missense_Mutation_p.A305V|PPM1F_ENST00000538191.1_Missense_Mutation_p.A201V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	305					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCACCCAATGCTTCAATGCG	0.627000													24	34					0	0	0.693898	0	0
TTN	7273	broad.mit.edu	37	2	179622626	179622626	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179622626C>T	ENST00000589042.1	-	45	10545	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3395K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3395K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTATTTTCTTCAAATTTG	0.398000													14	165					0	0	0.500413	0	0
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16359917C>T	ENST00000354981.2	-	19	2887	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q	KIF16B_ENST00000408042.1_Silent_p.Q910Q|KIF16B_ENST00000378003.2_Silent_p.Q136Q|KIF16B_ENST00000355755.3_Silent_p.Q910Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	910	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q910Q(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGGAGGTACTGTAGCTGGC	0.443000													116	240					0	0	0.870114	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51994903G>T	ENST00000291707.3	-	8	1835	c.1780C>A	c.(1780-1782)Ccc>Acc	p.P594T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P476T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	594					cell adhesion	integral to membrane	sugar binding	p.P594T(2)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTCACTTGGGGATGTTGATC	0.532000													72	290					3.76287e-55	5.05517e-55	0.870114	1	0
OR10G2	26534	broad.mit.edu	37	14	22102531	22102531	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22102531G>A	ENST00000542433.1	-	1	565	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCATGGAGCCGGCGACCCAAG	0.557000													23	197					0	0	0.779181	0	0
MIB1	57534	broad.mit.edu	37	18	19359454	19359454	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:19359454G>A	ENST00000261537.6	+	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	239					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G239D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGCAGAATGGCAACAGGAAT	0.408000													140	593					0	0	0.870114	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:197408180G>T	ENST00000273582.5	-	17	2660	c.2115C>A	c.(2113-2115)tgC>tgA	p.C705*	KIAA0226_ENST00000296343.5_Nonsense_Mutation_p.C750*|KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.C775*	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527000													20	311					4.35082e-09	4.77155e-09	0.592651	1	0
LHX8	431707	broad.mit.edu	37	1	75609537	75609537	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:75609537G>T	ENST00000294638.5	+	7	1282	c.618G>T	c.(616-618)ggG>ggT	p.G206G	LHX8_ENST00000356261.3_Silent_p.G196G	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G206G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGGGAATGGGATTAGTGTGG	0.408000													12	49					1.3612e-06	1.44412e-06	0.479597	1	0
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28963357C>T	ENST00000377179.3	-	7	1934	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E474E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCCCACACTCCTCACACCTGT	0.493000													109	114					0	0	0.870114	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47505153G>A	ENST00000371901.3	+	8	1272	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.R340K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	341						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R341K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCAAGAGAGATGCCGGGAG	0.522000													77	130					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179516838T>A	ENST00000589042.1	-	204	39504	c.39280A>T	c.(39280-39282)Agt>Tgt	p.S13094C	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S10660C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S11587C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11447							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10660C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGAGGACTTTCCGGTTTG	0.348000													11	93					0	0	0.457914	0	0
CHD7	55636	broad.mit.edu	37	8	61763057	61763057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:61763057G>T	ENST00000423902.2	+	26	5889	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1804					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.E1804*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACAGGCTATGAGAAGTACAA	0.527000													8	92					0.000673444	0.000693837	0.361761	1	0
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51742776C>A	ENST00000262262.4	+	7	949	c.928C>A	c.(928-930)Cac>Aac	p.H310N	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.H183N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	310					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.H310N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCATAAGAAACACCAGAAGAA	0.512000													44	96					1.83081e-24	2.22464e-24	0.870114	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140811320A>G	ENST00000252085.3	+	1	1136	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.K332E(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGCCAAAGTCCTGAT	0.517000													7	150					0	0	0.520397	0	0
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:149999767C>A	ENST00000370377.3	-	2	185		c.e2-1		CD99L2_ENST00000437787.2_Splice_Site|CD99L2_ENST00000466436.1_Splice_Site|CD99L2_ENST00000355149.3_Splice_Site|CD99L2_ENST00000320893.6_Splice_Site|CD99L2_ENST00000346693.4_Splice_Site	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion	cell junction|integral to membrane		p.?(4)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGATCCtaaaaattaa	0.289000													21	66					1.10923e-09	1.22661e-09	0.639603	1	0
NUP210L	91181	broad.mit.edu	37	1	154067433	154067433	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154067433T>G	ENST00000368559.3	-	15	2236	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q722P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	722						integral to membrane		p.Q722P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCCAGGCATTGGATCCGGTA	0.383000													11	67					0	0	0.435327	0	0
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21234952T>C	ENST00000233242.1	-	26	4915	c.4788A>G	c.(4786-4788)gcA>gcG	p.A1596A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1596					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1596A(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGCAGCAGTGCATTTTGCT	0.408000													97	107					0	0	0.870114	0	0
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:44144038T>A	ENST00000542245.1	+	9	1002	c.964T>A	c.(964-966)Tgg>Agg	p.W322R	CAPN11_ENST00000398776.1_Missense_Mutation_p.W322R			Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.W322R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGAATCCCTGGGGCCGGAT	0.597000													94	88					0	0	0.870114	0	0
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173703396G>C	ENST00000209884.4	+	3	704	c.568G>C	c.(568-570)Gac>Cac	p.D190H	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	190	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.D190H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGGATAGCAGACAAGTTCAC	0.428000													165	246					0	0	0.870114	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63235916C>A	ENST00000540857.1	-	4	499	c.367G>T	c.(367-369)Gga>Tga	p.G123*	HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*|HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.G133*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133								p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443000													80	197					1.45978e-39	1.88496e-39	0.870114	1	0
BEST1	7439	broad.mit.edu	37	11	61730375	61730375	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61730375C>G	ENST00000449131.2	+	9	1655	c.1569C>G	c.(1567-1569)ctC>ctG	p.L523L	BEST1_ENST00000378043.4_Intron|BEST1_ENST00000301774.9_Silent_p.L211L|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	583					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.L523L(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGTCTGTCCTCCACCTGAACC	0.517000													57	69					0	0	0.870114	0	0
PPTC7	160760	broad.mit.edu	37	12	110977723	110977723	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:110977723G>A	ENST00000354300.3	-	4	918	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	210	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity	p.F210F(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGGACATCGAAAGACGTGC	0.453000													18	117					0	0	0.639603	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711535	162711535	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:162711535T>C	ENST00000375514.5	+	6	792	c.505T>C	c.(505-507)Tat>Cat	p.Y169H	SLC4A10_ENST00000446997.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Y158H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Y158H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	158					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.Y158H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGCAAGCCTTATGTGGCTAC	0.378000													30	252					0	0	0.750413	0	0
UFL1	23376	broad.mit.edu	37	6	96997631	96997631	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:96997631G>T	ENST00000369278.4	+	15	1840	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	592					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									CTTAGCTTCGGATTTAATGAT	0.398000													167	295					7.82335e-77	1.06768e-76	0.870114	1	0
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000377780.4_Missense_Mutation_p.S885L|DIS3_ENST00000545453.1_Missense_Mutation_p.S753L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328000										Multiple Myeloma(4;0.011)			34	262					0	0	0.796494	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381966	41381966	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41381966T>G	ENST00000377801.3	-	2	848	c.774A>C	c.(772-774)aaA>aaC	p.K258N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K258N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	258					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.K258N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCCACCCCTTTGACCACAG	0.423000													38	166					0	0	0.870114	0	0
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:8888088C>G	ENST00000256707.3	-	25	3638	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000418530.1_Intron	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1153R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGCCGCCAGGGTAATAC	0.403000													91	52					0	0	0.870114	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615413	140615413	+	RNA	SNP	C	C	G	rs3733683	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140615413C>G	ENST00000526308.1	+	0	1476					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGGGACACCCAGGCTGAAAA	0.522000													5	86					0	0	0.248553	0	0
CCDC141	285025	broad.mit.edu	37	2	179742850	179742850	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179742850G>T	ENST00000420890.2	-	12	1857	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	CCDC141_ENST00000295723.5_Missense_Mutation_p.S5R|CCDC141_ENST00000409284.1_Missense_Mutation_p.S580R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	5							protein binding	p.S580R(2)|p.S5R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTCTTTTAAGCTCTGAAACT	0.353000													18	119					9.95505e-16	1.15223e-15	0.624587	1	0
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42730041G>C	ENST00000301215.3	+	3	1711	c.1486G>C	c.(1486-1488)Ggt>Cgt	p.G496R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G496R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GACACACACGGGTGAGAGGCC	0.617000													10	72					0	0	0.387290	0	0
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:218713785T>A	ENST00000171887.4	-	17	1532	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TNS1_ENST00000419504.1_Silent_p.P360P|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Silent_p.P360P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	360						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P485P(2)|p.P360P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCCATCTAGTGGCCCCTGCG	0.597000													116	136					0	0	0.870114	0	0
ABCA9	10350	broad.mit.edu	37	17	67012515	67012515	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:67012515A>T	ENST00000340001.4	-	22	3129	c.2918T>A	c.(2917-2919)aTa>aAa	p.I973K	ABCA9_ENST00000370732.2_Missense_Mutation_p.I973K|ABCA9_ENST00000453985.2_Missense_Mutation_p.I973K|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	973					transport	integral to membrane	ATP binding|ATPase activity	p.I973K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTACATGCTATTGAAAATCT	0.343000													63	311					0	0	0.870114	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62751918G>T	ENST00000377871.3	-	1	511	c.245C>A	c.(244-246)aCc>aAc	p.T82N	SLC22A6_ENST00000421062.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T82N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	82					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.T82N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCGGGGAGGTGAAGCGGAG	0.662000													17	127					7.45023e-12	8.41674e-12	0.592651	1	0
SCN1A	6323	broad.mit.edu	37	2	166866339	166866339	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166866339T>G	ENST00000423058.2	-	20	3909	c.3892A>C	c.(3892-3894)Agt>Cgt	p.S1298R	SCN1A_ENST00000409050.1_Missense_Mutation_p.S1270R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1287R|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1298R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1298						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1287R(1)|p.S1298R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTGTTAAACTGACCAATGAA	0.353000													25	139					0	0	0.717897	0	0
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:70342515C>T	ENST00000558939.1	-	20	3617	c.2240G>A	c.(2239-2241)tGt>tAt	p.C747Y	TLE3_ENST00000559191.1_Missense_Mutation_p.C328Y|TLE3_ENST00000451782.2_Missense_Mutation_p.C744Y|TLE3_ENST00000559048.1_Missense_Mutation_p.C747Y|TLE3_ENST00000557907.1_Missense_Mutation_p.C739Y|TLE3_ENST00000560939.1_Missense_Mutation_p.C749Y|TLE3_ENST00000539550.1_Missense_Mutation_p.C674Y|TLE3_ENST00000557997.1_Missense_Mutation_p.C739Y|TLE3_ENST00000558201.1_Missense_Mutation_p.C753Y|TLE3_ENST00000440567.3_Missense_Mutation_p.C737Y|TLE3_ENST00000558379.1_Missense_Mutation_p.C742Y|TLE3_ENST00000560589.1_Missense_Mutation_p.C691Y|TLE3_ENST00000317509.8_Missense_Mutation_p.C735Y|TLE3_ENST00000559929.1_Missense_Mutation_p.C757Y|TLE3_ENST00000442299.2_Missense_Mutation_p.C739Y			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	747					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.C747Y(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAATGTCACAACTCAAGAC	0.473000													43	93					0	0	0.870114	0	0
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:9416304G>C	ENST00000328089.6	+	2	695	c.354G>C	c.(352-354)gcG>gcC	p.A118A	SPSB1_ENST00000357898.3_Silent_p.A118A|SPSB1_ENST00000377399.2_Silent_p.A118A	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	118	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.A118A(2)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGGCGACGGCAGACG	0.662000													6	4					0	0	0.278610	0	0
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39884738G>T	ENST00000341184.6	+	2	1601	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	462					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.G462G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCGCACCGGGGGCTGGTTCG	0.627000													17	3					6.49762e-13	7.38618e-13	0.539581	1	0
RPS5	6193	broad.mit.edu	37	19	58899552	58899552	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58899552C>T	ENST00000596046.1	+	1	897	c.48C>T	c.(46-48)gaC>gaT	p.D16D	RPS5_ENST00000601521.1_Silent_p.D16D|RPS5_ENST00000196551.3_Silent_p.D16D|RPS5_ENST00000598495.1_Silent_p.D16D|RPS5_ENST00000598098.1_Silent_p.D16D			P46782	RS5_HUMAN	ribosomal protein S5	16					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGACCCCAGACATCAAGCTCT	0.567000													3	15					0	0	0.115264	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509988	41509988	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:41509988G>A	ENST00000324071.4	+	2	261	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R9Q|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R45Q|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	85					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R85Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCATACGGGAGGCCCTT	0.582000													49	266					0	0	0.870114	0	0
PLP1	5354	broad.mit.edu	37	X	103045510	103045510	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:103045510G>A	ENST00000418604.1	+	8	1098	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q|PLP1_ENST00000303958.2_Missense_Mutation_p.R273Q|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	273					cell death|synaptic transmission	integral to membrane		p.R273Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473000													61	332					0	0	0.870114	0	0
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157551323G>T	ENST00000271532.1	-	7	1382	c.1247C>A	c.(1246-1248)tCa>tAa	p.S416*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	416						integral to membrane|plasma membrane	receptor activity	p.S416*(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCACAAACCTGACTTCCTCCG	0.592000													63	70					1.48634e-54	1.99314e-54	0.870114	1	0
SMURF2	64750	broad.mit.edu	37	17	62558992	62558992	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:62558992C>T	ENST00000262435.9	-	11	1296	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	370					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.R370Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AACCAGGTCTCGCTTGTACCT	0.463000													16	53					0	0	0.539581	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580996	99580996	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99580996C>A	ENST00000425474.1	+	0	317					NR_036679.1																						AGACCCTGAACAACATCATGG	0.562000													44	52					1.02067e-35	1.30986e-35	0.870114	1	0
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52511514C>A	ENST00000242839.4	-	19	4075	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ATP7B_ENST00000344297.5_Missense_Mutation_p.V1100L|ATP7B_ENST00000417240.2_Missense_Mutation_p.V518L|ATP7B_ENST00000400370.3_Missense_Mutation_p.V877L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V1196L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V1229L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V1242L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.V1307L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTAGCCACCACATCCAGCAAA	0.552000									Wilson disease				68	130					2.36429e-26	2.90425e-26	0.870114	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748388	19748388	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:19748388C>G	ENST00000222567.5	-	1	322	c.252G>C	c.(250-252)gaG>gaC	p.E84D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	84						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E84D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATCGGTACCTCTCAGAATAGC	0.562000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	227					0	0	0.812448	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:38796436C>A	ENST00000449105.2	-	10	1594	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	HNRNPLL_ENST00000409328.1_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000378915.3_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000409636.1_Nonsense_Mutation_p.E414*	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like									p.E419*(2)									TCCTCCAGCTCAAATATTTGA	0.368000													32	44					2.04263e-09	2.25198e-09	0.796494	1	0
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:73190390T>C	ENST00000541685.1	-	5	488	c.476A>G	c.(475-477)gAg>gGg	p.E159G	DPF3_ENST00000556509.1_Missense_Mutation_p.E159G|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.E169G	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.E159G(4)|p.E158G(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAATCCTCTTCTTCATT	0.418000													170	141					0	0	0.870114	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447589	96447589	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96447589G>T	ENST00000285979.6	+	2	430	c.231G>T	c.(229-231)ttG>ttT	p.L77F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.L77F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.L77F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGTGGTGTTGCATGGATATG	0.423000													364	679					1.84682e-144	2.56591e-144	0.870114	1	0
MIR888	100126306	broad.mit.edu	37	X	145076303	145076303	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:145076303G>C	ENST00000401186.1	-	0	75					NR_030592.1																						TGTACTTGGTGAGCCTTCCTT	0.498000													16	36					0	0	0.624587	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:155555776C>A	ENST00000295101.2	+	1	966	c.489C>A	c.(487-489)ctC>ctA	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572000													14	109					2.62699e-14	3.01671e-14	0.479597	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560240	44560240	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:44560240A>T	ENST00000332567.4	-	1	1748	c.1396T>A	c.(1396-1398)Tca>Aca	p.S466T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	466					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.S466T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGCCTCTGAGAGGTCCCAG	0.602000													14	23					0	0	0.520397	0	0
EPHB1	2047	broad.mit.edu	37	3	134851748	134851748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:134851748G>T	ENST00000398015.3	+	5	1524	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGCAGCTGGGCCTGACGGAG	0.597000													36	87					1.47244e-24	1.79217e-24	0.819951	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057927	152057927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152057927G>T	ENST00000368806.1	-	3	2295	c.2231C>A	c.(2230-2232)tCa>tAa	p.S744*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	744							calcium ion binding	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCTCCTCTGATGTTACAGG	0.468000													56	343					7.91745e-34	1.00811e-33	0.870114	1	0
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677000													4	8					0	0	0.150653	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:238090596G>C	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617000													16	84					0	0	0.520397	0	0
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:40134118G>C	ENST00000181839.4	+	14	4683	c.4078G>C	c.(4078-4080)Gct>Cct	p.A1360P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1300P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1360					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.A1360P(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAGTTCTGCTCCACCACT	0.438000													74	238					0	0	0.870114	0	0
VPS4B	9525	broad.mit.edu	37	18	61060776	61060776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61060776C>T	ENST00000238497.5	-	10	1302	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	367					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.G367R(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGGGAAGGTCCGCGAACCTGA	0.388000													18	86					0	0	0.557998	0	0
FBXL7	23194	broad.mit.edu	37	5	15936692	15936692	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15936692C>T	ENST00000504595.1	+	4	1354	c.873C>T	c.(871-873)caC>caT	p.H291H	FBXL7_ENST00000329673.7_Silent_p.H279H|FBXL7_ENST00000510662.1_Silent_p.H244H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.H291H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGCCTGCACACCATCGCGG	0.622000													30	90					0	0	0.769981	0	0
THSD7B	80731	broad.mit.edu	37	2	137990695	137990695	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:137990695G>A	ENST00000409968.1	+	9	2320	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M714I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M683I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.M714I(1)|p.M683I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACAAGTAATGACCAAAAGGT	0.398000													11	73					0	0	0.387290	0	0
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:136649681G>A	ENST00000287538.5	+	1	1381	c.831G>A	c.(829-831)gaG>gaA	p.E277E	ZIC3_ENST00000370606.3_Silent_p.E277E	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	277					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E277E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCATGCATGAGCTGGTGACAC	0.617000													15	28					0	0	0.500413	0	0
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	C	rs112168960		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52439604G>C	ENST00000242819.4	+	2	386	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507000													56	344					0	0	0.870114	0	0
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:116691596G>A	ENST00000357780.3	-	3	1292	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.P393L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCTCCAAAGGGGCCAGCAT	0.617000													6	31					0	0	0.217242	0	0
RPL36A	6173	broad.mit.edu	37	X	100646510	100646510	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:100646510G>A	ENST00000427805.2	+	2	287	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000553110.3_Missense_Mutation_p.V23M|RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.K33K	NM_021029.5	NP_066357.2			ribosomal protein L36a									p.V23M(1)|p.T24fs*19(1)|p.V59M(1)		liver(4)|lung(1)|prostate(1)	6						ACCCCATAAAGTGACACAGTA	0.423000													14	190					0	0	0.457914	0	0
DUSP13	51207	broad.mit.edu	37	10	76857569	76857569	+	Missense_Mutation	SNP	G	G	A	rs148137334		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:76857569G>A	ENST00000491677.2	-	6	1003	c.461C>T	c.(460-462)cCg>cTg	p.P154L	DUSP13_ENST00000607131.1_Missense_Mutation_p.P118L|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.P25L|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.P25L|DUSP13_ENST00000605915.1_Missense_Mutation_p.P47L|DUSP13_ENST00000478873.2_Missense_Mutation_p.P161L|DUSP13_ENST00000372700.3_Missense_Mutation_p.P75L	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	18	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P75L(1)|p.P25L(1)|p.P154L(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAATGTGGGCGGCTGGTAGGG	0.622000													4	24					0	0	0.217242	0	0
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152285143C>A	ENST00000368799.1	-	3	2254	c.2219G>T	c.(2218-2220)cGa>cTa	p.R740L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577000									Ichthyosis				109	847					8.05755e-30	1.00496e-29	0.870114	1	0
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78340326G>A	ENST00000255189.3	-	6	823	c.795C>T	c.(793-795)ctC>ctT	p.L265L	DMGDH_ENST00000380311.4_Silent_p.L64L|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	265					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L265L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAACCGGAATGAGAGGATGTT	0.373000													23	88					0	0	0.681144	0	0
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428000													33	63					4.32679e-17	5.05599e-17	0.827153	1	0
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	G	A	rs142920790	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:175957454G>A	ENST00000367669.3	-	17	2456	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RFWD2_ENST00000308769.8_Silent_p.L624L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	648					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L648L(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGAAGCCAGGCCTACAAAG	0.398000													80	87					0	0	0.870114	0	0
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27135155C>A	ENST00000343060.4	-	1	438	c.377G>T	c.(376-378)tGc>tTc	p.C126F	HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGGAGCGCACTGGGGGTA	0.567000													27	60					8.4185e-14	9.64469e-14	0.760397	1	0
PLXND1	23129	broad.mit.edu	37	3	129290609	129290609	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:129290609C>A	ENST00000393239.1	-	16	3334	c.3156G>T	c.(3154-3156)gaG>gaT	p.E1052D	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052D			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCCGACGCTCGAAGCGCA	0.667000													3	16					0.115264	0.115739	0.115264	1	0
ENTHD1	150350	broad.mit.edu	37	22	40140274	40140274	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:40140274C>T	ENST00000325157.6	-	7	1484	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	412								p.E412K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATGCTCCCTCAGAAGCAGTT	0.363000													39	83					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223084905	223084905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:223084905G>T	ENST00000350526.4	-	7	1263	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	PAX3_ENST00000409551.3_Missense_Mutation_p.P375H|PAX3_ENST00000392069.2_Missense_Mutation_p.P376H|PAX3_ENST00000392070.2_Missense_Mutation_p.P376H|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.P376H|PAX3_ENST00000344493.4_Missense_Mutation_p.P376H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	376					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P376H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTTGGAGGGCCCCGACGG	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						10	56					2.27111e-07	2.43595e-07	0.411799	1	0
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45410214C>G	ENST00000332700.6	-	4	1046	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAATTCTCCCTCCATCTTGG	0.502000													34	210					0	0	0.847076	0	0
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90346962G>A	ENST00000300060.6	-	8	1666	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	451	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S451S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCGGGTGGGAGGAGGCCAGTG	0.607000													23	54					0	0	0.667858	0	0
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:62701953G>T	ENST00000361317.2	+	9	1145	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	TCEA2_ENST00000343484.5_Missense_Mutation_p.G262C|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	262	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G262C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTTCACCTGCGGCAAGTGCAG	0.632000													10	8					1.76689e-08	1.92334e-08	0.335167	1	0
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275540C>G	ENST00000360374.2	-	1	38	c.39G>C	c.(37-39)ttG>ttC	p.L13F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTTAATCCCAAGAGGATAA	0.443000													40	221					0	0	0.870114	0	0
SMG1	23049	broad.mit.edu	37	16	18856973	18856973	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:18856973T>C	ENST00000446231.2	-	39	6409	c.5996_splice	c.e39-1	p.K1999_splice	SMG1_ENST00000389467.3_Splice_Site_p.K1999_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1999					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	p.K1995K(1)|p.K1999K(1)		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						TTTTCTCTTCTCTGACCAAGA	0.363000													51	207					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7092473	7092473	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:7092473C>G	ENST00000299481.4	+	12	3562	c.3216C>G	c.(3214-3216)caC>caG	p.H1072Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1072					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.H1072Q(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAATCCACACTTAATCATTA	0.393000													27	160					0	0	0.729181	0	0
HPS5	11234	broad.mit.edu	37	11	18327041	18327041	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18327041C>T	ENST00000396253.3	-	7	945		c.e7-1		HPS5_ENST00000438420.2_Splice_Site|HPS5_ENST00000349215.3_Splice_Site|HPS5_ENST00000531848.1_Splice_Site	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5							cytosol		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGATCTAGAAAGTAA	0.343000									Hermansky-Pudlak syndrome				14	149					0	0	0.539581	0	0
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55418972C>A	ENST00000312422.2	+	1	593	c.593C>A	c.(592-594)aCa>aAa	p.T198K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T198K(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGTTGTGACAGCCAACAGT	0.453000													191	468					1.84456e-88	2.54105e-88	0.870114	1	0
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3294475G>C	ENST00000219596.1	-	7	1763	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	MEFV_ENST00000339854.4_Nonsense_Mutation_p.S395*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.S364*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCATCTACCTGAGAAGTACTT	0.507000													9	74					0	0	0.411799	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:51872150G>C	ENST00000371497.5	+	2	3040	c.2153G>C	c.(2152-2154)tGc>tCc	p.C718S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.C715S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.C715S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C718S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCTTCCTGCTCCAGCCCA	0.582000													133	193					0	0	0.870114	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96454680C>T	ENST00000285979.6	+	4	687	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.P163L	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.P163L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTAGCCTCACCCTGTGATCCC	0.328000													120	283					0	0	0.870114	0	0
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:71004033G>A	ENST00000357250.6	-	5	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	COL9A1_ENST00000370496.3_Missense_Mutation_p.S178F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	178	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S178F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATGCCACTGGGAATCAAACAA	0.423000													35	229					0	0	0.819951	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:80546044A>G	ENST00000265361.3	-	2	615	c.54T>C	c.(52-54)tgT>tgC	p.C18C	SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Silent_p.C36C|SEMA3C_ENST00000419255.2_Silent_p.C18C	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					immune response|response to drug	membrane	receptor activity	p.C18C(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCTTTCACACAGATAGAAC	0.348000													48	79					0	0	0.870114	0	0
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55523797C>A	ENST00000305377.5	+	1	333	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82K(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CGGCTGAACACACCAATGTAT	0.388000													212	479					2.63024e-97	3.63709e-97	0.870114	1	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:147230857C>G	ENST00000271348.2	-	2	651	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E164Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000													51	327					0	0	0.870114	0	0
TCL6	27004	broad.mit.edu	37	14	96135899	96135899	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96135899G>T	ENST00000467865.1	+	0	1833				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ttagaagcaaggcacaagtca	0.507000			T	TRA@	T-ALL								12	111					6.72482e-11	7.53324e-11	0.479597	1	0
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22133522G>T	ENST00000408935.1	+	1	226	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V76F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCACTCATCTGTCACTGTGCC	0.433000													175	809					1.06534e-85	1.46484e-85	0.870114	1	0
LCK	3932	broad.mit.edu	37	1	32739958	32739958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32739958G>A	ENST00000333070.4	+	2	128	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	LCK_ENST00000336890.5_Missense_Mutation_p.E10K|LCK_ENST00000373564.3_Missense_Mutation_p.E10K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	10	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.E10K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCACACCCGGAAGATGACTG	0.562000			T	TRB@	T-ALL								18	80					0	0	0.608945	0	0
LCT	3938	broad.mit.edu	37	2	136570072	136570072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:136570072G>T	ENST00000264162.2	-	7	2172	c.2162C>A	c.(2161-2163)tCa>tAa	p.S721*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	721	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S721*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAAGAGGATGAGGTCTGGGG	0.532000													36	186					1.30475e-32	1.6484e-32	0.847076	1	0
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:73213554C>T	ENST00000377110.2	-	20	3036	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	TRPM3_ENST00000377105.1_Silent_p.Q790Q|TRPM3_ENST00000377111.2_Silent_p.Q931Q|TRPM3_ENST00000396292.4_Silent_p.Q803Q|TRPM3_ENST00000408909.2_Silent_p.Q790Q|TRPM3_ENST00000396285.1_Silent_p.Q778Q|TRPM3_ENST00000396280.5_Silent_p.Q780Q|TRPM3_ENST00000423814.3_Silent_p.Q958Q|TRPM3_ENST00000360823.2_Silent_p.Q793Q|TRPM3_ENST00000357533.2_Silent_p.Q935Q|TRPM3_ENST00000377106.1_Silent_p.Q803Q|TRPM3_ENST00000358082.3_Silent_p.Q793Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	956						integral to membrane	calcium channel activity	p.Q803Q(1)|p.Q935Q(1)|p.Q931Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTCACTTTCTGTAGCAACT	0.493000													52	208					0	0	0.870114	0	0
OR2T33	391195	broad.mit.edu	37	1	248436952	248436952	+	Silent	SNP	C	C	G	rs149193117		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248436952C>G	ENST00000318021.2	-	1	186	c.165G>C	c.(163-165)acG>acC	p.T55T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T55T(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTACATGGGCGTGTGGAGCC	0.517000													18	477					0	0	0.853193	0	0
ASIP	434	broad.mit.edu	37	20	32848288	32848288	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32848288G>A	ENST00000568305.1	+	2	310	c.108G>A	c.(106-108)ctG>ctA	p.L36L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L36L			P42127	ASIP_HUMAN	agouti signaling protein	36					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.L36L(1)		central_nervous_system(1)|lung(2)	3						ACAGGAGCCTGAGAAGCAACT	0.582000													27	74					0	0	0.760397	0	0
PTPRG	5793	broad.mit.edu	37	3	62258745	62258745	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:62258745G>A	ENST00000474889.1	+	22	3684	c.3307G>A	c.(3307-3309)Gtc>Atc	p.V1103I	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1074I|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1103	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1103I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TAACTACCTCGTCCAGACTGA	0.423000													16	122					0	0	0.624587	0	0
AHR	196	broad.mit.edu	37	7	17378614	17378614	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:17378614G>A	ENST00000242057.4	+	10	1808	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	389					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.E389K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTTTAGAGATGAGGAAGGAAC	0.299000													8	241					0	0	0.307466	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390760	208390760	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:208390760C>A	ENST00000367033.3	-	2	1265	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	170	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.G170W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAATCACCCCGTACATGGTG	0.587000													68	528					7.14593e-30	8.92021e-30	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:114185958G>A	ENST00000297405.5	-	4	946	c.702C>T	c.(700-702)atC>atT	p.I234I	CSMD3_ENST00000352409.3_Silent_p.I234I|CSMD3_ENST00000343508.3_Silent_p.I194I|CSMD3_ENST00000455883.2_Silent_p.I234I|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	234	Sushi 1.					integral to membrane|plasma membrane		p.I234I(2)|p.I194I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTCTACAGATAGGAACAG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			96	149					0	0	0.870114	0	0
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25861687A>C	ENST00000376351.3	+	7	1983	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	542						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I542L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGTTTCTCATTGGCTGGAC	0.453000													68	111					0	0	0.870114	0	0
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:31595220G>A	ENST00000379416.3	-	17	1778	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	577					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P577L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGGGGCAGGGGCCGGCCCAC	0.622000													43	118					0	0	0.870114	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762590	130762590	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762590C>A	ENST00000392429.1	+	2	3401	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	TMEM200A_ENST00000296978.3_Silent_p.V341V|TMEM200A_ENST00000545622.1_Silent_p.V341V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	341						integral to membrane		p.V341V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAGCCCGTCAGCACAGTGC	0.498000													30	158					6.50621e-10	7.20559e-10	0.769981	1	0
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44149840C>A	ENST00000223357.3	+	11	1600	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632000													5	18					0.0215528	0.021731	0.217242	1	0
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40099000C>T	ENST00000261435.6	+	3	456	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	14						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.R14W(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATCCTTTTCGGAAGACTGC	0.413000													59	179					0	0	0.870114	0	0
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	G	T	rs113394891	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:194080147G>T	ENST00000347624.3	-	2	1711	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	LRRC15_ENST00000439944.2_Silent_p.A548A|LRRC15_ENST00000428839.1_Silent_p.A548A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542						integral to membrane		p.A542A(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597000													64	34					2.40982e-25	2.94042e-25	0.870114	1	0
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136512860A>T	ENST00000308191.6	+	13	1538	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q412L(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AACAAGGCCCAGTGGAAGAGC	0.637000													13	11					0	0	0.479597	0	0
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149433914C>A	ENST00000286301.3	-	21	3025	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	912					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E912*(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGGCCTGCTCCTGAAGGAAG	0.612000													20	80					1.42536e-11	1.60655e-11	0.681144	1	0
IRS1	3667	broad.mit.edu	37	2	227661262	227661262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:227661262G>C	ENST00000305123.4	-	1	3213	c.2193C>G	c.(2191-2193)gaC>gaG	p.D731E		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGTTCATGTAGTCACCTGTGC	0.597000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	0.184627	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:31769448A>G	ENST00000240587.4	-	2	1578	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S234S(2)|p.S417S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTCATAGCAGAGTTGGTGA	0.567000													105	191					0	0	0.870114	0	0
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:20879649G>A	ENST00000332947.4	+	1	718	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61								p.Q61Q(2)		large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GCCGGCGCCAGAAAGTGGAGC	0.692000													3	24					0	0	0.150653	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:35927260C>T	ENST00000490799.1	-	16	2193	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D509N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D614N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	614	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.D614N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGATCATCACAGTTGCAG	0.363000													26	182					0	0	0.750413	0	0
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214551349G>A	ENST00000366956.5	-	14	2835	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	881					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R881W(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTCTTCCCGCCCTGAGACT	0.547000													49	71					0	0	0.870114	0	0
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214557780T>A	ENST00000366956.5	-	13	1612	c.1418A>T	c.(1417-1419)aAc>aTc	p.N473I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	473					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.N473I(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCATGGGTGTTGATAATGTT	0.562000													340	210					0	0	0.870114	0	0
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1639197T>A	ENST00000252804.4	-	22	4353	c.4303A>T	c.(4303-4305)Acc>Tcc	p.T1435S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1435	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1435S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACAAATGGTGCATGCATCT	0.512000													9	7					0	0	0.387290	0	0
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:24593464C>A	ENST00000264463.4	-	2	643	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G46C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAATTTTGCCATCACTCCTT	0.418000										HNSCC(23;0.051)			55	232					2.43698e-19	2.90159e-19	0.870114	1	0
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49611952C>T	ENST00000327171.3	+	9	1318	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	GALK2_ENST00000560031.1_Silent_p.D373D|GALK2_ENST00000559454.1_Silent_p.D349D|GALK2_ENST00000396509.2_Silent_p.D349D|GALK2_ENST00000544523.1_Silent_p.D349D|GALK2_ENST00000543495.1_3'UTR	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	373					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	p.D362D(2)|p.D373D(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCTGCCGGGACATGTATGAGT	0.532000													31	84					0	0	0.796494	0	0
OR2T6	254879	broad.mit.edu	37	1	248551236	248551236	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248551236G>T	ENST00000355728.2	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTATGGGGGCTGAATTCT	0.562000													22	142					2.52088e-20	3.01065e-20	0.639603	1	0
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:48428803C>T	ENST00000224605.2	-	2	1348	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	361					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.T361T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTTCTGCATCGTCTTCTCGT	0.612000													6	21					0	0	0.248553	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:92927019T>C	ENST00000373079.3	-	1	1548	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly	chromatin assembly complex		p.I429V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTGGCTGGATTTCAATTTCT	0.433000													2	5					0	0	0.115264	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													12	471					0	0	0.435327	0	0
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78422045C>A	ENST00000274353.5	+	6	909	c.802C>A	c.(802-804)Cca>Aca	p.P268T	BHMT_ENST00000524080.1_Missense_Mutation_p.P115T|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P268T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCAGAATTCCCATTTGGTAA	0.433000													11	56					9.31168e-06	9.79366e-06	0.435327	1	0
ZNF682	91120	broad.mit.edu	37	19	20118030	20118030	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20118030G>A	ENST00000397165.2	-	4	441	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF682_ENST00000397162.1_Missense_Mutation_p.S62L|ZNF682_ENST00000358523.5_Missense_Mutation_p.S62L|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000597972.1_Missense_Mutation_p.S100L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.S18L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S94L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTTTGGAATGAATCTTGCAT	0.368000													12	52					0	0	0.435327	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31813004G>A	ENST00000334067.3	+	1	408	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament		p.S120N(2)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTGGGTCCAGCTTCTACCAC	0.473000													43	197					0	0	0.864702	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717013G>T	ENST00000279593.3	-	13	3368	c.3159C>A	c.(3157-3159)gaC>gaA	p.D1053E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1053					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1053E(2)|p.D1053D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCAAGTCGTCGTGGCCAC	0.572000													11	36					1.08611e-07	1.16922e-07	0.387290	1	0
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99308411G>T	ENST00000336374.2	-	10	972	c.970C>A	c.(970-972)Cac>Aac	p.H324N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACATCAGGGTGAGTGGCCAGT	0.448000													74	95					1.10345e-40	1.43498e-40	0.870114	1	0
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:125286264G>C	ENST00000296220.5	-	6	1131	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					lipid transport		lipid binding	p.S281*(2)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTCTGATGTGATGCATGCTG	0.418000													56	223					0	0	0.870114	0	0
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:83332601C>A	ENST00000261722.3	-	19	2538	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	AP3B2_ENST00000535359.1_Silent_p.S796S|AP3B2_ENST00000535348.1_Silent_p.S745S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	777	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.S776S(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCGGACTCCGATGTCATCT	0.572000													16	28					1.3612e-06	1.44412e-06	0.479597	1	0
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:7805972A>G	ENST00000303635.7	+	18	4645	c.4438A>G	c.(4438-4440)Agt>Ggt	p.S1480G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1466G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S44G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1480G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCTCCCGTCAGTGAAATCGC	0.478000			T	WWTR1	epitheliod hemangioendothelioma								35	256					0	0	0.864702	0	0
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113866313C>A	ENST00000383673.2	-	4	905	c.475G>T	c.(475-477)Gta>Tta	p.V159L	DRD3_ENST00000295881.7_Missense_Mutation_p.V159L|DRD3_ENST00000467632.1_Missense_Mutation_p.V159L|DRD3_ENST00000460779.1_Missense_Mutation_p.V159L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	159					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V159L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGGCCAGTACCCAGACGGCC	0.542000													328	327					6.87418e-180	9.57802e-180	0.870114	1	0
PRMT10	90826	broad.mit.edu	37	4	148582162	148582162	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:148582162G>T	ENST00000322396.6	-	7	1223	c.981C>A	c.(979-981)atC>atA	p.I327I	PRMT10_ENST00000541232.1_Silent_p.I214I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	327						cytoplasm	binding|protein methyltransferase activity	p.I327I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGGCAAATGGATACCAGCAA	0.373000													24	107					9.78306e-22	1.17799e-21	0.740014	1	0
ANKRD52	283373	broad.mit.edu	37	12	56647906	56647906	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56647906T>A	ENST00000267116.7	-	8	972	c.851A>T	c.(850-852)aAt>aTt	p.N284I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	284							protein binding	p.N284I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GAGAGCGCCATTGGTGGAGAC	0.552000													12	89					0	0	0.457914	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336924	42336924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42336924G>A	ENST00000262418.6	-	8	790	c.635C>T	c.(634-636)tCa>tTa	p.S212L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	212					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.S212L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCAGATGGTGAGTGCCCTTC	0.602000													21	65					0	0	0.667858	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912725	54912725	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54912725C>T	ENST00000293373.6	+	15	1527	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S433L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	483					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.S483L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTGAATTCTCAGGATTGAGG	0.388000													29	164					0	0	0.779181	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77620118C>A	ENST00000521891.2	+	3	3376	c.2928C>A	c.(2926-2928)caC>caA	p.H976Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H950Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H950Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H950Q|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	950						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H976Q(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGTGGCTCACATTAAAGAAG	0.443000										HNSCC(33;0.089)			63	142					1.50424e-25	1.84005e-25	0.870114	1	0
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537167G>A	ENST00000394434.2	-	10	1030	c.864C>T	c.(862-864)ttC>ttT	p.F288F	LARS_ENST00000510191.1_Silent_p.F234F|LARS_ENST00000274562.9_Silent_p.F261F|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.F242F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	288	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378000													9	63					0	0	0.307466	0	0
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89890150G>C	ENST00000435811.1	-	8	1410	c.956C>G	c.(955-957)cCg>cGg	p.P319R	GABRR1_ENST00000369451.3_Missense_Mutation_p.P249R|GABRR1_ENST00000454853.2_Missense_Mutation_p.P336R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	336					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P330R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGACGCGCGGCATGGAGGC	0.532000													256	227					0	0	0.870114	0	0
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:7001425G>C	ENST00000256722.5	-	3	881	c.882C>G	c.(880-882)atC>atG	p.I294M	CMPK2_ENST00000404168.1_Missense_Mutation_p.I294M|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Missense_Mutation_p.I294M	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	294					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.I294M(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCATCAAAGATCTTCCTCC	0.448000													16	78					0	0	0.539581	0	0
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78574751C>A	ENST00000397909.2	+	30	5791	c.5618C>A	c.(5617-5619)aCc>aAc	p.T1873N	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.T1851N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1674N|NAV3_ENST00000536525.2_Missense_Mutation_p.T1851N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1851N(2)		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						TCAAGCAGCACCTCCTCTTCA	0.448000										HNSCC(70;0.22)			73	162					5.02048e-33	6.36479e-33	0.870114	1	0
AIM1	202	broad.mit.edu	37	6	106968728	106968728	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:106968728G>A	ENST00000369066.3	+	2	2908	c.2421G>A	c.(2419-2421)gtG>gtA	p.V807V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	807							sugar binding	p.V807V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCTCTGGTGATGCCGGAAA	0.453000													6	17					0	0	0.278610	0	0
POT1	25913	broad.mit.edu	37	7	124499043	124499043	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:124499043C>G	ENST00000357628.3	-	9	1268	c.670G>C	c.(670-672)Gat>Cat	p.D224H	POT1_ENST00000393329.1_Missense_Mutation_p.D93H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	224					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.D224H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACATGGTTATCGTAGACTAAA	0.318000													25	159					0	0	0.870114	0	0
RCOR3	55758	broad.mit.edu	37	1	211451575	211451575	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:211451575G>T	ENST00000367005.4	+	5	600	c.459G>T	c.(457-459)caG>caT	p.Q153H	RCOR3_ENST00000367006.4_Missense_Mutation_p.Q211H|RCOR3_ENST00000419091.2_Missense_Mutation_p.Q211H|RCOR3_ENST00000452621.2_Missense_Mutation_p.Q211H	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q153H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATAATCAGGGTGACAGGT	0.378000													100	692					4.94481e-55	6.63693e-55	0.870114	1	0
TANGO6	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68941453G>T	ENST00000261778.1	+	10	1787	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.G121V(2)|p.G592V(2)									GGTTTGGCAGGAGACTTCTTC	0.502000													29	33					8.58068e-18	1.0132e-17	0.717897	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588901	33588901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33588901C>A	ENST00000504830.1	-	18	3003	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E805*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	890	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E890*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTCCCACTCCCCTGCCCAC	0.582000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	64					0.00152264	0.00155887	0.592651	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:7578550G>C	ENST00000420246.2	-	5	512	c.380C>G	c.(379-381)tCc>tGc	p.S127C	TP53_ENST00000445888.2_Missense_Mutation_p.S127C|TP53_ENST00000413465.2_Missense_Mutation_p.S127C|TP53_ENST00000359597.4_Missense_Mutation_p.S127C|TP53_ENST00000455263.2_Missense_Mutation_p.S127C|TP53_ENST00000269305.4_Missense_Mutation_p.S127C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	52					0	0	0.740014	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:172659655C>A	ENST00000329198.4	-	2	1165	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	298					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.G298W(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCAAGTCCCCGACGCCGAAG	0.667000													6	6					0.00116845	0.00119792	0.217242	1	0
NRXN2	9379	broad.mit.edu	37	11	64374937	64374937	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64374937C>A	ENST00000265459.6	-	23	5331	c.4870G>T	c.(4870-4872)Ggc>Tgc	p.G1624C	NRXN2_ENST00000301894.2_Missense_Mutation_p.G578C|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1554C|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1624C|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1617C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1624					cell adhesion	integral to membrane	metal ion binding	p.G1624C(1)|p.G578C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCACTGCGCCCGGCGGGCCC	0.736000													4	1					0.00116845	0.00119792	0.217242	1	0
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:157820536G>T	ENST00000490689.2	-	2	1632	c.99C>A	c.(97-99)acC>acA	p.T33T	SHOX2_ENST00000441443.2_Silent_p.T33T|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Silent_p.T162T|SHOX2_ENST00000425436.3_Silent_p.T162T|SHOX2_ENST00000389589.4_Silent_p.T186T			O60902	SHOX2_HUMAN	short stature homeobox 2	162					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T33T(2)|p.T186T(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGGATAGTGGGTCTCGTCAA	0.597000													57	29					1.77267e-40	2.30321e-40	0.870114	1	0
CCR2	729230	broad.mit.edu	37	3	46401302	46401302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:46401302C>A	ENST00000292301.4	+	3	1561	c.1076C>A	c.(1075-1077)tCa>tAa	p.S359*	CCR2_ENST00000400888.2_Nonsense_Mutation_p.S359*	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	359					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.S359*(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAAGGAAAGTCAATTGGCAGA	0.493000													47	184					2.40265e-35	3.078e-35	0.870114	1	0
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24901483G>T	ENST00000251343.5	+	3	1155	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	KHNYN_ENST00000556842.1_Missense_Mutation_p.R339L|KHNYN_ENST00000553935.1_Missense_Mutation_p.R339L			O15037	KHNYN_HUMAN	KH and NYN domain containing	339								p.R339L(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCTCAGTCCCGAGGAGCCTCC	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					1.06961e-07	1.15316e-07	0.278610	1	0
ZMYND8	23613	broad.mit.edu	37	20	45848953	45848953	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:45848953C>G	ENST00000311275.7	-	21	3633	c.3380G>C	c.(3379-3381)aGa>aCa	p.R1127T	ZMYND8_ENST00000262975.4_Missense_Mutation_p.R1081T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R1049T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R1076T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R1154T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R1147T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R1101T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R1075T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R1101T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R1018T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R995T			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1127							protein binding|zinc ion binding	p.R1101T(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGCGTCTCTCTGGAGCCAGA	0.532000											OREG0026003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.217242	0	0
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104171922G>T	ENST00000374861.3	+	3	2114	c.1830G>T	c.(1828-1830)tgG>tgT	p.W610C	ZNF189_ENST00000339664.2_Missense_Mutation_p.W624C|ZNF189_ENST00000259395.4_Missense_Mutation_p.W582C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W624C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACAGCATGGATGCAATAAA	0.393000													25	127					5.91797e-21	7.0793e-21	0.760397	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:75003878G>T	ENST00000373359.2	-	1	1201	c.1009C>A	c.(1009-1011)Cta>Ata	p.L337I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2.							p.L337I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCCAATAGCTCATCCTGA	0.418000													53	104					2.18419e-29	2.71493e-29	0.870114	1	0
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61554281T>A	ENST00000263102.6	-	8	1411	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCCGGGGAATTGTAATAAGAC	0.448000			T	RET	NSCLC								111	171					0	0	0.870114	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917436	89917436	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:89917436C>T	ENST00000547474.1	-	3	481	c.115G>A	c.(115-117)Gat>Aat	p.D39N	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Silent_p.R297R|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Silent_p.R294R|POC1B-GALNT4_ENST00000413530.1_Silent_p.R125R|POC1B_ENST00000313546.3_Intron														p.R297R(1)									TTCTTGATATCCGCCTGTCCC	0.458000													4	71					0	0	0.150653	0	0
OSBPL6	114880	broad.mit.edu	37	2	179209051	179209051	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179209051G>A	ENST00000392505.2	+	12	1570	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000190611.4_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000315022.2_Silent_p.R321R	NM_001201480.1	NP_001188409.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	329					lipid transport		lipid binding	p.R342R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCACAACTCGGCGCCGGCAGA	0.542000													88	45					0	0	0.870114	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													37	95					0	0	0.827153	0	0
BRINP3	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:190068179G>T	ENST00000367462.3	-	8	1501	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.H322N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		424						extracellular region		p.H424N(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGCACGAGTGCGTCTCTTCT	0.552000													47	74					8.17542e-46	1.07463e-45	0.870114	1	0
NLRP3	114548	broad.mit.edu	37	1	247599347	247599347	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247599347C>A	ENST00000336119.3	+	6	3320	c.2574C>A	c.(2572-2574)acC>acA	p.T858T	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Silent_p.T801T|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.T858T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	858					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T858T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATTCCCTGACCAGACTCTATG	0.488000													69	507					1.17611e-34	1.50538e-34	0.870114	1	0
ACSS3	79611	broad.mit.edu	37	12	81528641	81528641	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:81528641G>T	ENST00000548058.1	+	3	1413	c.503G>T	c.(502-504)gGt>gTt	p.G168V	ACSS3_ENST00000261206.3_Missense_Mutation_p.G167V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	168						mitochondrion	acetate-CoA ligase activity|ATP binding	p.G168V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATCAAGAAAGGTGACACTGTG	0.438000													20	156					3.08376e-08	3.34188e-08	0.654019	1	0
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:27086965C>A	ENST00000480456.1	+	10	1428	c.878C>A	c.(877-879)aCa>aAa	p.T293K	JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000425221.2_Missense_Mutation_p.T257K|JAM2_ENST00000312957.5_Missense_Mutation_p.T293K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.T293K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAAGCACACAAAATCCTTT	0.274000													16	41					1.66031e-10	1.85139e-10	0.667858	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:39990940G>A	ENST00000332312.3	-	4	1461	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						proteinaceous extracellular matrix		p.L423L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGGCAGCAGAGAGCCTCGTAA	0.642000													4	37					0	0	0.184627	0	0
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:133403100T>A	ENST00000329321.3	+	2	1752	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L428H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGAGTCTCGAGTCACTA	0.532000													71	77					0	0	0.870114	0	0
RBM19	9904	broad.mit.edu	37	12	114384250	114384250	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:114384250T>C	ENST00000545145.2	-	12	1516	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	RBM19_ENST00000261741.5_Missense_Mutation_p.I480V|RBM19_ENST00000392561.3_Missense_Mutation_p.I480V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.I480V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTTCTTGATGGTAGATGGT	0.562000													52	110					0	0	0.870114	0	0
MED12L	116931	broad.mit.edu	37	3	150881826	150881826	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150881826G>T	ENST00000474524.1	+	8	1292	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	MED12L_ENST00000422248.2_Missense_Mutation_p.Q418H|MED12L_ENST00000309237.4_Missense_Mutation_p.Q418H|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	418					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q418H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCAATCAGCAGGTAGACT	0.512000													43	300					4.17328e-34	5.32303e-34	0.870114	1	0
DOCK2	1794	broad.mit.edu	37	5	169267790	169267790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:169267790C>G	ENST00000256935.8	+	27	2813	c.2733C>G	c.(2731-2733)atC>atG	p.I911M	DOCK2_ENST00000520908.1_Missense_Mutation_p.I403M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	911					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.I911M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGAGATCATGGTCCAGC	0.473000													47	179					0	0	0.870114	0	0
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:59112366T>A	ENST00000395153.3	+	4	1061	c.914T>A	c.(913-915)aTt>aAt	p.I305N	DACT1_ENST00000335867.4_Missense_Mutation_p.I342N|DACT1_ENST00000541264.2_Missense_Mutation_p.I61N|DACT1_ENST00000556859.1_Missense_Mutation_p.I61N|DACT1_ENST00000395151.3_Missense_Mutation_p.I61N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	342					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.I342N(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GATGGCTACATTCTGAGCCTG	0.517000													37	28					0	0	0.819951	0	0
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:71800926T>C	ENST00000373545.3	-	32	3910	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	PHKA1_ENST00000541944.1_Missense_Mutation_p.M1128V|PHKA1_ENST00000373539.3_Missense_Mutation_p.M1217V|PHKA1_ENST00000373542.4_Missense_Mutation_p.M1200V|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1187V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1200					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M1200V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTAGGTCATGGTGCCAAAC	0.562000													19	49					0	0	0.592651	0	0
KMT2B	9757	broad.mit.edu	37	19	36210423	36210423	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36210423C>G	ENST00000420124.1	+	2	416	c.416C>G	c.(415-417)tCt>tGt	p.S139C	WBP7_ENST00000222270.7_Missense_Mutation_p.S139C|WBP7_ENST00000341701.1_Missense_Mutation_p.S139C|KMT2B_ENST00000607650.1_RNA																							TCCCTGCGCTCTGCGCTCCGA	0.562000													2	3					0	0	0.115264	0	0
DDX17	10521	broad.mit.edu	37	22	38891885	38891885	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38891885C>A	ENST00000396821.3	-	6	895	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.D187Y	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	187	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D266Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGCCATAGTCATCGGCCACC	0.438000													24	193					1.39806e-14	1.60925e-14	0.729181	1	0
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:66357977T>A	ENST00000333861.3	-	1	2577	c.2510A>T	c.(2509-2511)cAc>cTc	p.H837L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837								p.H837L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGTTGACTGGTGGGGATCCTT	0.577000													28	56					0	0	0.740014	0	0
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56138681G>T	ENST00000319441.4	+	6	1023	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	PCK1_ENST00000535860.1_Missense_Mutation_p.A155S|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	287					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A287S(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542000													34	37					2.87052e-16	3.33299e-16	0.812448	1	0
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42176906G>T	ENST00000520810.1	+	14	1669	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E272*|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E493*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E436*|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	495					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.E495*(2)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GATTGACCTGGAGAAGTACAG	0.428000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	163					1.26252e-74	1.7198e-74	0.870114	1	0
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125486593G>A	ENST00000259466.1	+	1	325	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATGGCATTTGGGAACACTGA	0.473000													122	132					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:170112651T>A	ENST00000263816.3	-	19	3020	c.2735A>T	c.(2734-2736)cAg>cTg	p.Q912L	LRP2_ENST00000443831.1_Missense_Mutation_p.Q775L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	912					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Q912L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTGTCATCTGCTCTATATG	0.363000													183	194					0	0	0.870114	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751805	140751805	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140751805G>T	ENST00000576222.1	+	1	1975	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCCGGGCTGTTCAGC	0.687000													14	28					2.35188e-11	2.64677e-11	0.539581	1	0
ZNF525	170958	broad.mit.edu	37	19	53884412	53884412	+	Missense_Mutation	SNP	G	G	A	rs4438413	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53884412G>A	ENST00000467003.1	+	4	673	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.D194N					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TAACTATGGGGATAATTTTCT	0.358000													4	89					0	0	0.150653	0	0
IGHM	3507	broad.mit.edu	37	14	106321585	106321585	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:106321585C>T	ENST00000390559.2	-	0	648																											GGTCACTCACCGGGGCCACAC	0.637000													4	6					0	0	0.150653	0	0
KIAA0247	9766	broad.mit.edu	37	14	70170156	70170156	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:70170156C>T	ENST00000342745.4	+	3	479	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	56	Sushi.					integral to membrane		p.H56Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTACATCTGCCACCCCCGGCC	0.572000													21	108					0	0	0.681144	0	0
GABRR1	2569	broad.mit.edu	37	6	89888774	89888774	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89888774G>A	ENST00000435811.1	-	9	1558	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	GABRR1_ENST00000369451.3_Silent_p.C298C|GABRR1_ENST00000454853.2_Silent_p.C385C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	385					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.C379C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCCGCTGGTGCAGGGAAGCT	0.542000													6	116					0	0	0.248553	0	0
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:25589787C>A	ENST00000269141.3	-	5	1019	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CDH2_ENST00000399380.3_Missense_Mutation_p.G168V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	199	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G199V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTCCTGGCCCAGTTACACT	0.488000													53	139					5.0973e-17	5.9516e-17	0.870114	1	0
CYP4F3	4051	broad.mit.edu	37	19	15756552	15756552	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15756552C>G	ENST00000221307.7	+	3	270	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.L74L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGAAGGTCTCCTATACACAC	0.557000													33	163					0	0	0.840704	0	0
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178040602C>G	ENST00000316308.4	-	7	866	c.698G>C	c.(697-699)gGt>gCt	p.G233A		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G233A(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACAAACATGACCATGATGATC	0.348000													30	70					0	0	0.788014	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140308879G>A	ENST00000253807.2	+	1	2402	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R801K|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2												p.R801K(2)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGGAATAGGAAAGGGGAT	0.448000													57	135					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179612234	179612234	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179612234G>C	ENST00000360870.5	-	46	15115	c.14893C>G	c.(14893-14895)Cct>Gct	p.P4965A	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1082	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACTCAGGAGAAAGTGGA	0.393000													45	302					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170134418	170134418	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:170134418T>C	ENST00000263816.3	-	13	1894	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	537					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.K537E(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTCCAGCTTAGGTTCCCCA	0.423000													34	293					0	0	0.827153	0	0
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:33673054C>G	ENST00000354992.2	-	15	2636	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	LARGE_ENST00000402320.1_Missense_Mutation_p.D637H|LARGE_ENST00000337431.2_Missense_Mutation_p.D637H|LARGE_ENST00000452586.2_Missense_Mutation_p.D488H|LARGE_ENST00000437602.2_Missense_Mutation_p.D640H|LARGE_ENST00000397394.2_Missense_Mutation_p.D689H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	689					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.D689H(1)		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)				ACCTGCACATCCAGCTCCATG	0.532000													17	113					0	0	0.624587	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762481	140762481	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140762481G>C	ENST00000518325.1	+	1	15	c.15G>C	c.(13-15)ccG>ccC	p.P5P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1												p.P5P(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCAGCCGAGGGGCGGGG	0.612000											OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	0.307466	0	0
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90642323G>T	ENST00000257749.4	-	9	3037	c.2330C>A	c.(2329-2331)cCc>cAc	p.P777H	BACH2_ENST00000343122.3_Missense_Mutation_p.P777H|BACH2_ENST00000537989.1_Missense_Mutation_p.P777H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	777						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P777H(4)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGTCCGGGGGGAGCCGC	0.632000													12	10					5.01169e-05	5.21487e-05	0.520397	1	0
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104120405G>T	ENST00000361355.4	+	11	1900	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	428					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G428G(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGATAATGGGAGCAACCAAG	0.348000													64	349					4.85316e-53	6.47826e-53	0.870114	1	0
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	G	T	rs149030409		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117491979G>T	ENST00000393203.2	+	4	1145	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGTTGGCGCGGCTTGACCGT	0.577000													81	117					2.96794e-49	3.94378e-49	0.870114	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008905	88008905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:88008905G>T	ENST00000276127.4	+	3	749	c.490G>T	c.(490-492)Gct>Tct	p.A164S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A164S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	164						intracellular	zinc ion binding	p.A164S(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCTCTCAGGCTGCAGGGTG	0.388000													35	88					2.52449e-32	3.1839e-32	0.827153	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565707	33565707	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:33565707T>A	ENST00000321505.4	+	1	1887	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D569E|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D569E					KIAA1549-like									p.D569E(2)									ATGGAACAGATACAGGTTCTG	0.453000													44	163					0	0	0.870114	0	0
CDK11A	728642	broad.mit.edu	37	1	1647827	1647827	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:1647827T>A	ENST00000356200.3	-	4	578	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	CDK11A_ENST00000378635.3_Missense_Mutation_p.Q139L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q139L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q149L|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q139L|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q115L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q139L					cyclin-dependent kinase 11A									p.E149V(1)|p.Q139L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTTCTCTTCTGTCTTTCCCA	0.502000													6	57					0	0	0.557998	0	0
CADPS2	93664	broad.mit.edu	37	7	122526107	122526107	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:122526107G>T	ENST00000334010.7	-	1	706	c.285C>A	c.(283-285)atC>atA	p.I95I	CADPS2_ENST00000313070.7_Silent_p.I95I|CADPS2_ENST00000412584.2_Silent_p.I95I|CADPS2_ENST00000449022.2_Silent_p.I95I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	95					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.I95I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGGGTACGCGATGCACCTCA	0.667000													5	6					0.0215528	0.021731	0.217242	1	0
LAMP5	24141	broad.mit.edu	37	20	9498764	9498764	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:9498764C>G	ENST00000246070.2	+	5	1045	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q141E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	185						integral to membrane		p.Q185E(1)									GTGTCAAGCTCAACAAACCAT	0.522000													17	107					0	0	0.557998	0	0
NOVA1	4857	broad.mit.edu	37	14	26941598	26941598	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:26941598C>A	ENST00000539517.2	-	4	765		c.e4-1		NOVA1_ENST00000547619.1_Splice_Site|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Splice_Site	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGGCAATGTCTGGGAAACAA	0.378000													27	54					2.46105e-21	2.95609e-21	0.750413	1	0
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:4186205C>T	ENST00000396981.2	-	5	603	c.438G>A	c.(436-438)agG>agA	p.R146R	UBE2G1_ENST00000572484.1_Silent_p.R75R	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R146R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTCTATCTTCCCTCCATTCTT	0.323000													15	21					0	0	0.592651	0	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													8	11					0	0	0.335167	0	0
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76349447T>A	ENST00000263187.3	+	15	2152	c.2048T>A	c.(2047-2049)aTg>aAg	p.M683K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	683					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.M683K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGACCAAACATGAGTGGAAAA	0.343000								Mismatch excision repair (MMR)					30	125					0	0	0.819951	0	0
DOCK4	9732	broad.mit.edu	37	7	111379521	111379521	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:111379521T>A	ENST00000428084.1	-	48	5325	c.5053A>T	c.(5053-5055)Acc>Tcc	p.T1685S	DOCK4_ENST00000437633.1_Missense_Mutation_p.T1676S|DOCK4_ENST00000494651.2_Missense_Mutation_p.T559S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1676	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.T1676S(1)|p.T1673S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGCTTGAGGTAGATGGACTT	0.468000													4	14					0	0	0.184627	0	0
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:146256096C>A	ENST00000367503.3	-	13	3335	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	SHPRH_ENST00000367505.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q979H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q979H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	979					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.Q979H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GACAGCAGGCCTGTCTGAGCC	0.443000													50	78					4.6707e-30	5.83538e-30	0.870114	1	0
NXF4	55999	broad.mit.edu	37	X	101818873	101818873	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:101818873G>A	ENST00000360035.2	+	0	1157					NR_002216.1													p.S138S(1)		endometrium(2)|lung(8)	10						AGCTGAAGTCGGCTTGGGAGT	0.552000													24	45					0	0	0.717897	0	0
ELN	2006	broad.mit.edu	37	7	73461085	73461085	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:73461085C>G	ENST00000252034.7	+	12	1030	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	ELN_ENST00000320399.6_Missense_Mutation_p.P211A|ELN_ENST00000380584.4_Missense_Mutation_p.P211A|ELN_ENST00000380575.4_Missense_Mutation_p.P201A|ELN_ENST00000380576.5_Missense_Mutation_p.P211A|ELN_ENST00000358929.4_Missense_Mutation_p.P211A|ELN_ENST00000458204.1_Missense_Mutation_p.P201A|ELN_ENST00000357036.5_Missense_Mutation_p.P216A|ELN_ENST00000445912.1_Missense_Mutation_p.P211A|ELN_ENST00000429192.1_Missense_Mutation_p.P216A|ELN_ENST00000320492.7_Missense_Mutation_p.P189A|ELN_ENST00000414324.1_Missense_Mutation_p.P206A|ELN_ENST00000380553.4_Missense_Mutation_p.P108A|ELN_ENST00000380562.4_Missense_Mutation_p.P211A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	211					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.P211A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CATCAAGGCCCCCAAGCTGCC	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						4	33					0	0	0.217242	0	0
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:151170615G>T	ENST00000394123.3	+	4	488	c.343G>T	c.(343-345)Gct>Tct	p.A115S	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.A115S			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	115	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.A115S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTTTGTCCTTGCTCCTGAGGT	0.393000													55	229					3.95532e-38	5.09387e-38	0.870114	1	0
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29600034C>T	ENST00000431530.3	+	1	1287	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	400						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S410F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACAGGGCTCTGCTTCCTTA	0.547000													7	44					0	0	0.307466	0	0
PALD1	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72292391C>A	ENST00000263563.6	+	6	916	c.648C>A	c.(646-648)gcC>gcA	p.A216A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A216A(1)									ACGACTTTGCCCAGCTGAGCG	0.587000													39	252					3.05275e-18	3.61926e-18	0.864702	1	0
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:44703735G>A	ENST00000339042.4	+	1	487	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A119A(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTGCCTTGCGTACCTCATGA	0.587000													56	265					0	0	0.870114	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64815843G>A	ENST00000358658.3	-	9	1240	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	NAALADL1_ENST00000356632.3_Missense_Mutation_p.R370C|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R364C|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R456C|NAALADL1_ENST00000528884.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	405	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R405C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATTGATCTGCGAGGACGCCAG	0.597000													6	22					0	0	0.217242	0	0
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:22363185C>A	ENST00000397121.2	-	3	1651	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G445V(2)		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)				GGGTTTCTCTCCAGCATGAAT	0.428000													67	138					8.41775e-28	1.04101e-27	0.870114	1	0
WIPF1	7456	broad.mit.edu	37	2	175436880	175436880	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175436880G>C	ENST00000392547.2	-	5	752	c.653C>G	c.(652-654)aCt>aGt	p.T218S	AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S|WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S|WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGGGGAGGAGTGGGCCCGGG	0.657000													10	42					0	0	0.479597	0	0
HDC	3067	broad.mit.edu	37	15	50534775	50534775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50534775G>T	ENST00000267845.3	-	12	2073	c.1671C>A	c.(1669-1671)gcC>gcA	p.A557A	HDC_ENST00000543581.1_Silent_p.A524A	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	557					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGGCATCTGGGGCCTCTTCTG	0.542000													54	88					5.12918e-33	6.49696e-33	0.870114	1	0
MFN1	55669	broad.mit.edu	37	3	179085375	179085375	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:179085375A>T	ENST00000471841.1	+	8	1028	c.902A>T	c.(901-903)gAa>gTa	p.E301V	MFN1_ENST00000280653.7_Missense_Mutation_p.E301V|MFN1_ENST00000263969.5_Missense_Mutation_p.E301V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	301					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.E301V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGGATGCCAGAAAGTGGTATG	0.393000													4	22					0	0	0.184627	0	0
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:98807550C>T	ENST00000266058.4	-	16	1776	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V511M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	511	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V511M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGACAGACCACGTCGCTGTTG	0.647000													5	26					0	0	0.184627	0	0
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25887236C>A	ENST00000376351.3	+	11	3040	c.2681C>A	c.(2680-2682)cCa>cAa	p.P894Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	894						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P894Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGGGCACCCACGAACATCG	0.517000													88	291					1.13981e-37	1.46662e-37	0.870114	1	0
DNHD1	144132	broad.mit.edu	37	11	6588332	6588332	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6588332A>T	ENST00000254579.6	+	36	12157	c.11593A>T	c.(11593-11595)Agc>Tgc	p.S3865C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3865C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3865					microtubule-based movement	dynein complex	microtubule motor activity	p.S3865C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGGCCCTAAGCCAACTGCA	0.507000													15	66					0	0	0.479597	0	0
PGBD2	267002	broad.mit.edu	37	1	249210873	249210873	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249210873G>T	ENST00000539153.1	+	4	336	c.81G>T	c.(79-81)atG>atT	p.M27I	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.M30I			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30								p.M30I(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAATGCTATGGAGGAGGAAG	0.478000													14	100					7.07596e-05	7.35759e-05	0.539581	1	0
SCLY	51540	broad.mit.edu	37	2	239006934	239006934	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:239006934G>C	ENST00000254663.6	+	12	1442	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	SCLY_ENST00000555827.1_Missense_Mutation_p.E426Q|SCLY_ENST00000422984.2_Missense_Mutation_p.E332Q|SCLY_ENST00000429612.2_Missense_Mutation_p.E220Q	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	426					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	p.E426Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACCAGGGCCGAGGTGGACCT	0.716000													5	4					0	0	0.217242	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628913	84628913	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:84628913C>G	ENST00000284136.6	-	17	2220	c.2177G>C	c.(2176-2178)aGc>aCc	p.S726T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	726					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGGTCGAGGCTGAAGTTTGG	0.512000													13	94					0	0	0.435327	0	0
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:150912332C>A	ENST00000329903.4	+	6	1390	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R453S(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAAGTGCGCATCTTCCA	0.507000													37	258					6.45866e-13	7.35332e-13	0.840704	1	0
AP3D1	8943	broad.mit.edu	37	19	2121257	2121257	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:2121257G>A	ENST00000355272.6	-	13	1361	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	AP3D1_ENST00000356926.4_Silent_p.D294D|AP3D1_ENST00000345016.5_Silent_p.D385D|AP3D1_ENST00000350812.6_Silent_p.D216D|AP3D1_ENST00000590683.1_5'UTR	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	385					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.D385D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTGCCTTGTCTACGTGGG	0.547000													25	46					0	0	0.706142	0	0
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94544950C>A	ENST00000370225.3	-	9	1253	c.1167G>T	c.(1165-1167)gcG>gcT	p.A389A	ABCA4_ENST00000535735.1_Silent_p.A389A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	389					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A389A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGCTTTGCCGCCCTCCAAG	0.473000													73	253					1.59627e-33	2.02897e-33	0.870114	1	0
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:232894773C>T	ENST00000325385.7	+	5	625	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117S|DIS3L2_ENST00000409307.1_Missense_Mutation_p.P117S|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117S|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	117							exonuclease activity|ribonuclease activity|RNA binding	p.P117S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAAACTGCTTCCCGAGGAGCA	0.428000													151	212					0	0	0.870114	0	0
TREX1	11277	broad.mit.edu	37	3	48508518	48508518	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:48508518G>C	ENST00000296443.9	+	3	1351	c.464G>C	c.(463-465)aGc>aCc	p.S155T	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Missense_Mutation_p.S210T|TREX1_ENST00000444177.1_Missense_Mutation_p.S145T|TREX1_ENST00000436480.2_Missense_Mutation_p.S155T|TREX1_ENST00000433541.1_Missense_Mutation_p.S16T|TREX1_ENST00000456089.1_Missense_Mutation_p.S16T			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	210					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTGTGGATAGCATCACTGCG	0.602000													7	41					0	0	0.335167	0	0
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:98242849C>G	ENST00000430669.2	-	6	1155	c.570G>C	c.(568-570)tgG>tgC	p.W190C	PTCH1_ENST00000375274.2_Missense_Mutation_p.W255C|PTCH1_ENST00000437951.1_Missense_Mutation_p.W190C|PTCH1_ENST00000418258.1_Missense_Mutation_p.W105C|PTCH1_ENST00000331920.6_Missense_Mutation_p.W256C|PTCH1_ENST00000429896.2_Missense_Mutation_p.W105C|PTCH1_ENST00000421141.1_Missense_Mutation_p.W105C|PTCH1_ENST00000548379.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	256					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W256C(4)|p.W255C(4)|p.W256*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGAAGTTTGTCCACCGCAAAG	0.458000													28	102					0	0	0.760397	0	0
FLT1	2321	broad.mit.edu	37	13	28880878	28880878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28880878G>T	ENST00000282397.4	-	29	4003	c.3752C>A	c.(3751-3753)gCc>gAc	p.A1251D	FLT1_ENST00000540678.1_Missense_Mutation_p.A469D|FLT1_ENST00000543394.1_Missense_Mutation_p.A274D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1251					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A1251D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATGGGAGAGGCCAACAGAGT	0.547000													62	103					3.19358e-47	4.20919e-47	0.870114	1	0
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:65357812G>A	ENST00000373758.4	+	4	394	c.211G>A	c.(211-213)Gct>Act	p.A71T	REEP3_ENST00000298249.4_Missense_Mutation_p.A56T	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71						integral to membrane		p.A71T(2)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAGATTGCTTTTGTCAT	0.348000													40	68					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:78412823T>C	ENST00000278550.7	-	28	5297	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.Y1612C(4)									GTCCCCAGTGTAGGTGAAGTT	0.537000													60	349					0	0	0.870114	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308788	17308788	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:17308788G>A	ENST00000425038.1	+	0	425					NR_003607.1																						AAGAAAATTTGGAAATAAAGG	0.299000													4	14					0	0	0.150653	0	0
ZP4	57829	broad.mit.edu	37	1	238050702	238050702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:238050702G>A	ENST00000366570.4	-	5	871	c.713C>T	c.(712-714)cCa>cTa	p.P238L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	238	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P238L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAAGTAAATGGAAACTGGAA	0.522000													88	648					0	0	0.870114	0	0
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:86868907G>C	ENST00000373119.4	+	2	595	c.450G>C	c.(448-450)atG>atC	p.M150I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M150I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	150						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M150I(4)		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						CTGAAGACATGAATGCCACCA	0.338000													32	89					0	0	0.840704	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:107298654C>A	ENST00000374781.2	-	1	483	c.441G>T	c.(439-441)atG>atT	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000													335	436					2.04947e-163	2.85288e-163	0.870114	1	0
KIAA1524	57650	broad.mit.edu	37	3	108273323	108273323	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:108273323C>G	ENST00000295746.8	-	18	2300	c.2224G>C	c.(2224-2226)Gaa>Caa	p.E742Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E583Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	742						cytoplasm|integral to membrane	protein binding	p.E742Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTTCTTTTCAGTACTTTCA	0.313000													5	35					0	0	0.184627	0	0
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:69456155A>C	ENST00000227507.2	+	1	301	c.74A>C	c.(73-75)gAc>gCc	p.D25A	CCND1_ENST00000536559.1_Missense_Mutation_p.D25A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	25					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.D25A(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTCCTCAACGACCGGGTGCTG	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			8	17					0	0	0.335167	0	0
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:70406705A>G	ENST00000373644.4	+	4	4428	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1407					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.T1407A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTAACCCTACAAAAAACCT	0.388000													29	65					0	0	0.750413	0	0
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:43292056G>T	ENST00000374518.4	+	10	1427	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	455					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.G455V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGATGACGGGTTGGAAAAC	0.438000													141	719					6.69687e-66	9.04665e-66	0.870114	1	0
MFSD11	79157	broad.mit.edu	37	17	74740468	74740468	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74740468C>T	ENST00000588460.1	+	7	2603	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MFSD11_ENST00000355954.3_Silent_p.F135F|MFSD11_ENST00000336509.4_Silent_p.F187F|MFSD11_ENST00000590514.1_Silent_p.F187F|MFSD11_ENST00000593181.1_Silent_p.F135F|MFSD11_ENST00000586622.1_Silent_p.F187F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	187						integral to membrane		p.F187F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGTTCTATTCTTTCTCATTC	0.418000													11	78					0	0	0.435327	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247065962C>T	ENST00000366508.1	-	8	1223	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E328K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E337K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	328	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E328K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATCTTTCTTCACAGTATTCT	0.368000													54	239					0	0	0.870114	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:116949479C>T	ENST00000229554.5	+	3	1746	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.L537L	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	537	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.L537L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGATTGATCTAGTAGAATC	0.428000									Kartagener syndrome				99	398					0	0	0.870114	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855270	22855270	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22855270C>G	ENST00000283645.4	+	13	1861	c.1731C>G	c.(1729-1731)agC>agG	p.S577R	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S577R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	577					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.S577R(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGCGGAGAGCACCACCTGCC	0.557000													7	17					0	0	0.278610	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:71039605C>A	ENST00000272367.2	-	5	1589	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A505S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	505	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.A505S(2)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCACAGATGCCAGATGGGCT	0.512000													77	64					2.79064e-53	3.73191e-53	0.870114	1	0
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18313334C>T	ENST00000396253.3	-	15	2215	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	HPS5_ENST00000438420.2_Missense_Mutation_p.E585K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E699K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	699						cytosol		p.E699K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGATTCTTCATTGCCTAAA	0.363000									Hermansky-Pudlak syndrome				33	231					0	0	0.788014	0	0
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:45002126C>A	ENST00000372176.1	-	16	1532	c.1064G>T	c.(1063-1065)cGa>cTa	p.R355L	ELMO2_ENST00000439931.2_Missense_Mutation_p.R455L|ELMO2_ENST00000454865.2_Missense_Mutation_p.R175L|ELMO2_ENST00000352077.2_Missense_Mutation_p.R441L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R260L|ELMO2_ENST00000396391.1_Missense_Mutation_p.R443L|ELMO2_ENST00000290246.6_Missense_Mutation_p.R443L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.R443L(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCAAAGGCTCGGTCATGGGT	0.498000													84	186					2.05045e-34	2.61992e-34	0.870114	1	0
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:44503035G>T	ENST00000260649.6	+	1	437	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G121W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	121					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.G121W(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTGGCAGGAGGGGCCCATGTA	0.542000													252	256					3.78666e-150	5.26605e-150	0.870114	1	0
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22040786G>T	ENST00000256906.4	+	1	194	c.94G>T	c.(94-96)Gga>Tga	p.G32*	HRH4_ENST00000426880.2_Nonsense_Mutation_p.G32*	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	32						integral to membrane|plasma membrane	histamine receptor activity	p.G32*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATAATGCTAGGAAATGCTTT	0.353000													64	106					5.32961e-40	6.89409e-40	0.870114	1	0
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50555455T>A	ENST00000267845.3	-	2	583	c.181A>T	c.(181-183)Att>Ttt	p.I61F	HDC_ENST00000543581.1_Missense_Mutation_p.I61F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	61					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.I61F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATTCGTTCAATGTCCCCAAAG	0.597000													220	330					0	0	0.870114	0	0
USP41	373856	broad.mit.edu	37	22	20721917	20721917	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:20721917C>G	ENST00000454608.2	-	9	643	c.644G>C	c.(643-645)tGc>tCc	p.C215S	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CTGGAAGAAGCAGTGCAGGGC	0.488000													4	6					0	0	0.184627	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035128	107035128	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:107035128G>A	ENST00000390626.2	-	0	93																											TTGGAGAACAGCCAGGAGGAG	0.577000													16	49					0	0	0.608945	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870201	36870201	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36870201G>T	ENST00000279024.4	-	3	603	c.332C>A	c.(331-333)cCc>cAc	p.P111H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCCTCCTGGGGCTCCACTTG	0.562000													51	300					1.67886e-27	2.07272e-27	0.870114	1	0
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71227747T>A	ENST00000554752.2	-	3	972	c.973A>T	c.(973-975)Atg>Ttg	p.M325L	MAP3K9_ENST00000381250.4_Missense_Mutation_p.M325L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.M19L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.M325L|MAP3K9_ENST00000554146.1_Missense_Mutation_p.M62L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	325	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.M325L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGAAAACATGGAGGCCCGG	0.557000													228	291					0	0	0.870114	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57995949C>T	ENST00000316770.2	-	1	441	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612000													87	136					0	0	0.870114	0	0
PTPRR	5801	broad.mit.edu	37	12	71094993	71094993	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:71094993G>A	ENST00000283228.2	-	7	1570	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	PTPRR_ENST00000549308.1_Missense_Mutation_p.S128L|PTPRR_ENST00000440835.2_Missense_Mutation_p.S128L|PTPRR_ENST00000342084.4_Missense_Mutation_p.S261L|PTPRR_ENST00000378778.1_Missense_Mutation_p.S167L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	373					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S373L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCTGGCTGACTGCAGATA	0.458000													42	221					0	0	0.870114	0	0
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99227767G>T	ENST00000375249.4	+	3	736	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	221					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	p.G221W(2)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAGATATGGTGGGAATGACAA	0.418000													84	187					6.23493e-48	8.24747e-48	0.870114	1	0
SRCAP	10847	broad.mit.edu	37	16	30732215	30732215	+	Missense_Mutation	SNP	G	G	T	rs141288104		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:30732215G>T	ENST00000262518.4	+	20	3554	c.3169G>T	c.(3169-3171)Ggg>Tgg	p.G1057W	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057W|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			CTCACCTGCCGGGCCCCCGCT	0.637000													33	93					1.02687e-29	1.27856e-29	0.864702	1	0
PCID2	55795	broad.mit.edu	37	13	113838759	113838759	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:113838759C>T	ENST00000375457.2	-	9	1176	c.580G>A	c.(580-582)Gac>Aac	p.D194N	PCID2_ENST00000246505.5_Missense_Mutation_p.D250N|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375479.2_Missense_Mutation_p.D196N|PCID2_ENST00000337344.4_Missense_Mutation_p.D196N|PCID2_ENST00000375477.1_Missense_Mutation_p.D196N|PCID2_ENST00000375459.1_Missense_Mutation_p.D194N|PCID2_ENST00000351317.3_Missense_Mutation_p.D173N	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	196					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	p.D250N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TTTGAGCTGTCAATTGCTCTA	0.348000													44	131					0	0	0.847076	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180166157C>A	ENST00000307832.2	-	1	942	c.902G>T	c.(901-903)tGg>tTg	p.W301L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W301L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTACTTTCCACAGAGCCCC	0.418000													33	108					2.13384e-23	2.57787e-23	0.870114	1	0
ENOX1	55068	broad.mit.edu	37	13	43930179	43930179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:43930179C>A	ENST00000261488.6	-	8	1276	c.699G>T	c.(697-699)agG>agT	p.R233S	ENOX1_ENST00000540032.1_Missense_Mutation_p.R46S|ENOX1_ENST00000412891.1_Missense_Mutation_p.R233S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	233					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R233S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCACGCATCCTCTGCTTGC	0.617000													28	76					0.000147802	0.000153357	0.706142	1	0
ATRNL1	26033	broad.mit.edu	37	10	116925403	116925403	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:116925403C>G	ENST00000355044.3	+	7	1216	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	364						integral to membrane	sugar binding	p.Q364E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTTTATATCAGGTATGGCT	0.313000													54	215					0	0	0.870114	0	0
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:26155990G>T	ENST00000381655.2	+	23	2183	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.D641Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	641					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D681Y(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATAGAAGATCGCCTTCA	0.393000													109	258					1.30882e-70	1.77625e-70	0.870114	1	0
SENP7	57337	broad.mit.edu	37	3	101056447	101056447	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:101056447C>T	ENST00000394095.2	-	17	2439	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SENP7_ENST00000348610.3_Missense_Mutation_p.E763K|SENP7_ENST00000394094.2_Missense_Mutation_p.E731K|SENP7_ENST00000394091.1_Missense_Mutation_p.E632K|SENP7_ENST00000314261.7_Missense_Mutation_p.E730K|SENP7_ENST00000358203.3_Missense_Mutation_p.E632K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	796	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.E730K(1)|p.E796K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACAAGTTCATCTGATGCC	0.318000													27	192					0	0	0.812448	0	0
ADAM17	6868	broad.mit.edu	37	2	9633917	9633917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:9633917C>T	ENST00000310823.3	-	16	2134	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	651	Crambin-like.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.R651Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATCCCAAAATCGTTCAATTAC	0.378000													24	170					0	0	0.750413	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018004	101018004	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:101018004T>C	ENST00000537247.1	+	10	2063	c.1109T>C	c.(1108-1110)tTg>tCg	p.L370S	GAS2L3_ENST00000539410.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000266754.5_Missense_Mutation_p.L474S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	474					cell cycle arrest			p.L474S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAGTATTTGAAACATAAT	0.403000													10	74					0	0	0.361761	0	0
MIR508	574513	broad.mit.edu	37	X	146318520	146318520	+	RNA	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:146318520A>G	ENST00000384857.1	-	0	25					NR_030235.1																						CCTCTGGAGTAGGGCACTACA	0.433000													27	37					0	0	0.760397	0	0
EGFR	1956	broad.mit.edu	37	7	55259501	55259501	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55259501C>T	ENST00000275493.2	+	21	2736	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.I808I|EGFR_ENST00000454757.2_Silent_p.I800I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	853	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I853I(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGTCAAGATCACAGATTTTG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			77	382					0	0	0.870114	0	0
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:286583G>C	ENST00000432829.2	+	3	391	c.75G>C	c.(73-75)gtG>gtC	p.V25V	DOCK8_ENST00000453981.1_Silent_p.V93V|DOCK8_ENST00000469391.1_Silent_p.V25V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V93V(2)|p.V25V(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTGGACGTGGTGTTCACGC	0.493000													101	111					0	0	0.870114	0	0
EPHB2	2048	broad.mit.edu	37	1	23110886	23110886	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:23110886G>T	ENST00000400191.3	+	3	146	c.126_splice	c.e3-1	p.W43_splice	EPHB2_ENST00000374632.3_Splice_Site_p.W43_splice|EPHB2_ENST00000374630.3_Splice_Site_p.W43_splice|EPHB2_ENST00000544305.1_Splice_Site_p.W43_splice|EPHB2_ENST00000374627.1_Splice_Site_p.W37_splice	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	43					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.W43L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TACCCACAGTGGGAAGAGGTG	0.547000													14	82					1.02788e-11	1.15944e-11	0.520397	1	0
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	G	T	rs145685246		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:51363276G>T	ENST00000522124.1	+	8	1011	c.350G>T	c.(349-351)aGa>aTa	p.R117I	SNTG1_ENST00000518864.1_Missense_Mutation_p.R117I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R117I|SNTG1_ENST00000517473.1_Missense_Mutation_p.R117I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R117I(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGAAAATGTAGACATGAAGAA	0.323000													11	51					0.00136819	0.00140173	0.411799	1	0
HK1	3098	broad.mit.edu	37	10	71048521	71048521	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71048521G>A	ENST00000448642.2	+	4	411	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	HK1_ENST00000360289.2_5'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.E8K			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E8K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCCAGCGAGAATCGGTAAG	0.512000													12	88					0	0	0.435327	0	0
OBSCN	84033	broad.mit.edu	37	1	228559464	228559464	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228559464C>G	ENST00000570156.2	+	105	23930	c.23856C>G	c.(23854-23856)atC>atG	p.I7952M	OBSCN_ENST00000366707.4_Missense_Mutation_p.I4629M|OBSCN_ENST00000422127.1_Missense_Mutation_p.I6995M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6995					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.I7707M(1)|p.I7577M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCCTATCAGGGACATGG	0.692000													2	0					0	0	0.115264	0	0
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135288688G>C	ENST00000543669.1	+	2	808	c.97G>C	c.(97-99)Gac>Cac	p.D33H	FHL1_ENST00000539015.1_Missense_Mutation_p.D62H|FHL1_ENST00000370683.1_Missense_Mutation_p.D49H|FHL1_ENST00000370676.3_Missense_Mutation_p.D49H|FHL1_ENST00000394153.2_Missense_Mutation_p.D33H|FHL1_ENST00000394155.2_Missense_Mutation_p.D33H|FHL1_ENST00000370690.3_Missense_Mutation_p.D33H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Missense_Mutation_p.D33H|FHL1_ENST00000345434.3_Missense_Mutation_p.D33H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	33					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.D33H(4)|p.D62H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GAAATGCTTTGACAAGTTCTG	0.557000													121	496					0	0	0.870114	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762245	23762245	+	Translation_Start_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:23762245C>A	ENST00000397312.2	-	0	262				ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H|ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAGCAATTACCTGCTAAAAAC	0.393000													143	218					1.56929e-64	2.11406e-64	0.870114	1	0
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3786361T>A	ENST00000381771.2	-	6	770	c.623A>T	c.(622-624)cAc>cTc	p.H208L	CAMKK1_ENST00000158166.5_Missense_Mutation_p.H208L|CAMKK1_ENST00000348335.2_Missense_Mutation_p.H208L|CAMKK1_ENST00000381769.2_Missense_Mutation_p.H235L			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	208	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.H208L(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CACATTCACGTGGTCCAGCTT	0.642000													10	12					0	0	0.387290	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:32217561G>A	ENST00000400246.1	+	23	2086	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Silent_p.Q648Q|DEPDC5_ENST00000382111.2_Silent_p.Q648Q|DEPDC5_ENST00000382112.3_Silent_p.Q648Q|DEPDC5_ENST00000400248.1_Silent_p.Q648Q|DEPDC5_ENST00000400249.2_Silent_p.Q648Q|DEPDC5_ENST00000382105.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	648					intracellular signal transduction			p.Q648Q(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAGCGGGCAGAGGGATCCAA	0.552000													152	351					0	0	0.870114	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927146	31927146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31927146T>A	ENST00000375394.2	+	2	208	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	SKIV2L_ENST00000544581.1_5'UTR|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	32						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L32Q(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGGGAGCTGCTGAACTTG	0.587000													41	41					0	0	0.870114	0	0
PATZ1	23598	broad.mit.edu	37	22	31722972	31722972	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31722972C>G	ENST00000266269.5	-	5	2598	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.E611Q|PATZ1_ENST00000405309.3_3'UTR	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	657					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E657Q(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAAAGGACTCGAGGAGAGAC	0.582000													7	71					0	0	0.307466	0	0
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152083697C>G	ENST00000368804.1	-	2	1995	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E666Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGAGCCTCTCTTCCTCCTCC	0.652000													18	39					0	0	0.760397	0	0
RAD54L2	23132	broad.mit.edu	37	3	51663464	51663464	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51663464T>C	ENST00000409535.1	+	4	581	c.456T>C	c.(454-456)ccT>ccC	p.P152P	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	152						nucleus	ATP binding|DNA binding|helicase activity	p.P152P(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCTATTCCTACTGTTCCGC	0.527000													4	36					0	0	0.217242	0	0
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:11133706A>G	ENST00000409790.1	+	14	1863	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R527G	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	545								p.R545G(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACTCATCAGGATCATGAA	0.577000													10	41					0	0	0.361761	0	0
LVRN	206338	broad.mit.edu	37	5	115298888	115298888	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:115298888C>A	ENST00000357872.4	+	1	698	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		192					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.L192I(2)									GGTGCTGGAGCTCAGTGAGCC	0.632000													10	52					3.07112e-06	3.24173e-06	0.387290	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54708348	54708348	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:54708348C>T	ENST00000355221.3	-	8	1234	c.675G>A	c.(673-675)atG>atA	p.M225I	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.M203I	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.M225I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGAAAAAATCATTTGATACT	0.378000													27	110					0	0	0.779181	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250893	79250893	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79250893C>T	ENST00000374759.3	-	7	1050	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V223M|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	223					amino acid transport|sodium ion transport	integral to membrane		p.V223M(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATGGTTTTCACTGACGGCTCA	0.572000													5	26					0	0	0.248553	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855043	79855043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79855043C>T	ENST00000338682.3	-	5	1468	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	266						cytoplasm|nucleus		p.E266K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGAGCTCCTCTTGCAATGAA	0.517000													7	37					0	0	0.307466	0	0
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27420806G>A	ENST00000211936.6	-	6	816	c.532C>T	c.(532-534)Cct>Tct	p.P178S	ZNF184_ENST00000377419.1_Missense_Mutation_p.P178S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P178S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTATTTACAGGGCCTTTTTCC	0.403000													171	173					0	0	0.870114	0	0
ATP4A	495	broad.mit.edu	37	19	36053418	36053418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36053418G>T	ENST00000262623.3	-	4	367	c.339C>A	c.(337-339)tgC>tgA	p.C113*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	113					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C113*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACATGAGGCACTGCAGGC	0.662000													27	55					5.8336e-16	6.75737e-16	0.779181	1	0
MED12L	116931	broad.mit.edu	37	3	150906262	150906262	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150906262C>T	ENST00000474524.1	+	12	1786	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	MED12L_ENST00000422248.2_Missense_Mutation_p.S583F|MED12L_ENST00000309237.4_Missense_Mutation_p.S583F|MED12L_ENST00000273432.4_Missense_Mutation_p.S443F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	583					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S583F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCCCCTCTTTGTGTAAG	0.333000													16	286					0	0	0.624587	0	0
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:89035252C>G	ENST00000283646.4	+	6	649	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.F198L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCGCTGATTTCAGGTACAGTT	0.517000													252	388					0	0	0.870114	0	0
OR4K14	122740	broad.mit.edu	37	14	20482537	20482537	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:20482537C>A	ENST00000305045.2	-	1	815	c.816G>T	c.(814-816)ctG>ctT	p.L272L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L272L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAACACAGACAGCAGCTTGT	0.438000													24	80					1.66031e-10	1.85139e-10	0.667858	1	0
CD22	933	broad.mit.edu	37	19	35823739	35823739	+	Silent	SNP	G	G	T	rs145824675		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:35823739G>T	ENST00000085219.5	+	3	390	c.324G>T	c.(322-324)ccG>ccT	p.P108P	CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Silent_p.P108P|CD22_ENST00000594250.1_Silent_p.P108P|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Silent_p.P108P|CD22_ENST00000536635.2_Silent_p.P108P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	108	Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.P108P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTATCCACCCGGTGCACCTCA	0.498000													15	125					4.7546e-09	5.20268e-09	0.500413	1	0
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176838157G>T	ENST00000367654.2	-	22	3507	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	ASTN1_ENST00000361833.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1157E|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1157E			O14525	ASTN1_HUMAN	astrotactin 1	1165					cell migration|neuron cell-cell adhesion	integral to membrane		p.A1157E(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATCTTGTCTGCTATTTCTGA	0.383000													86	132					6.08224e-66	8.22395e-66	0.870114	1	0
SLC7A6	9057	broad.mit.edu	37	16	68309111	68309111	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68309111C>A	ENST00000566454.1	+	4	751	c.482C>A	c.(481-483)cCc>cAc	p.P161H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P161H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	161					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	p.P161H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCTGTGATCCCCCATACCTG	0.572000													12	68					1.5842e-08	1.72962e-08	0.435327	1	0
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:994187C>T	ENST00000537687.1	+	19	5640	c.4997C>T	c.(4996-4998)tCa>tTa	p.S1666L	WNK1_ENST00000315939.6_Missense_Mutation_p.S1406L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1159L|WNK1_ENST00000340908.4_Missense_Mutation_p.S999L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1904L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S1406L(2)|p.S1666L(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCTGAATCACCAGTACTT	0.498000													76	191					0	0	0.870114	0	0
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493000													247	420					0	0	0.870114	0	0
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:31324729G>T	ENST00000580599.1	+	6	783		c.e6-1		SPACA3_ENST00000394637.2_Splice_Site|SPACA3_ENST00000394638.1_Splice_Site|SPACA3_ENST00000269053.3_Splice_Site			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCCATCCTCAGGGAGGCCTGG	0.532000													161	311					2.52544e-87	3.47575e-87	0.870114	1	0
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275103G>T	ENST00000360374.2	-	1	475	c.476C>A	c.(475-477)gCa>gAa	p.A159E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGGTGCCTGCTGCATGGAT	0.507000													60	421					6.75472e-32	8.51176e-32	0.870114	1	0
CPSF2	53981	broad.mit.edu	37	14	92609541	92609541	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:92609541A>T	ENST00000298875.4	+	9	1328	c.1043A>T	c.(1042-1044)gAc>gTc	p.D348V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	348					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.D348V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTGTCAGGACCCTAAAAAC	0.423000													20	77					0	0	0.592651	0	0
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27720714C>T	ENST00000374024.3	+	2	511	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		p.L138L(2)		endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTACCTTTCTCTGTACAATGC	0.592000													16	47					0	0	0.592651	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													82	317					0	0	0.870114	0	0
LMOD2	442721	broad.mit.edu	37	7	123296081	123296081	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:123296081C>G	ENST00000458573.2	+	1	221	c.64C>G	c.(64-66)Ctc>Gtc	p.L22V	LMOD2_ENST00000456238.2_Missense_Mutation_p.L22V	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	22	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding	p.L22V(1)									GGATGAACTCCTCGCCTCCCT	0.537000													12	53					0	0	0.457914	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:121417151T>C	ENST00000393667.3	-	13	2329	c.2219A>G	c.(2218-2220)aAc>aGc	p.N740S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N735S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	735					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.N735S(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCACTGCTGTTGTTGTCAGC	0.388000													21	96					0	0	0.667858	0	0
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179641721C>A	ENST00000589042.1	-	28	5094	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D1624Y|TTN_ENST00000359218.5_Missense_Mutation_p.D1578Y|TTN_ENST00000342175.6_Missense_Mutation_p.D1578Y|TTN_ENST00000591111.1_Missense_Mutation_p.D1624Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1624Y|TTN_ENST00000460472.2_Missense_Mutation_p.D1578Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1358	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D1578Y(6)|p.D1624Y(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCAGAATCTTGGCTGACA	0.423000													56	74					9.4991e-31	1.18983e-30	0.870114	1	0
EPHA3	2042	broad.mit.edu	37	3	89528582	89528582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:89528582C>G	ENST00000336596.2	+	17	3107	c.2882C>G	c.(2881-2883)cCa>cGa	p.P961R	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	961	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.P961R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGTTGGGCCACAGAAGAAG	0.428000										TSP Lung(6;0.00050)			29	79					0	0	0.796494	0	0
DCDC1	341019	broad.mit.edu	37	11	30921898	30921898	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:30921898G>T	ENST00000597505.1	-	31	4648	c.4649C>A	c.(4648-4650)cCa>cAa	p.P1550Q	DCDC1_ENST00000339794.5_Missense_Mutation_p.P629Q|DCDC1_ENST00000406071.2_Missense_Mutation_p.P288Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.P629Q(1)|p.P240Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTACCATTTGGAGGTAGAAA	0.358000													14	16					2.32078e-09	2.55671e-09	0.479597	1	0
ESRRB	2103	broad.mit.edu	37	14	76966335	76966335	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76966335C>A	ENST00000380887.2	+	8	1498	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	ESRRB_ENST00000509242.1_Missense_Mutation_p.R476S|ESRRB_ENST00000261532.7_3'UTR|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R476S(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCAATCCACGCCCTTCTAG	0.537000													13	7					0.0135373	0.0137059	0.411799	1	0
MT-CO3	4514	broad.mit.edu	37	MT	9247	9247	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrM:9247G>A	ENST00000362079.2	+	1	41	c.41G>A	c.(40-42)aGc>aAc	p.14_14insN						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AGTAAAACCCAGCCCATGACC	0.498000													11	18					0	0	0.435327	0	0
TTYH2	94015	broad.mit.edu	37	17	72233616	72233616	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72233616A>T	ENST00000269346.4	+	4	672	c.598A>T	c.(598-600)Aag>Tag	p.K200*	TTYH2_ENST00000529107.1_Nonsense_Mutation_p.K179*	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	200						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.K200*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGCTGACCAAGCTATCCGA	0.572000													10	55					0	0	0.335167	0	0
ZNF860	344787	broad.mit.edu	37	3	32032068	32032068	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:32032068T>A	ENST00000360311.4	+	2	2046	c.1497T>A	c.(1495-1497)atT>atA	p.I499I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I499I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.393000													12	189					0	0	0.539581	0	0
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45822468C>A	ENST00000177694.1	+	6	1555	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	448					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCTGGTTCCGCCCTATGC	0.677000													13	13					4.3838e-07	4.68139e-07	0.435327	1	0
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:153796519T>G	ENST00000297107.6	+	12	1936	c.1799T>G	c.(1798-1800)tTc>tGc	p.F600C	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F538C|GALNT10_ENST00000377657.3_Missense_Mutation_p.F273C|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	600						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F600C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTGGAAAAATTCAATAGGAAC	0.542000													64	149					0	0	0.870114	0	0
TBC1D31	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:124113096A>C	ENST00000287380.1	+	7	971	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q294P|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q294P|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q189P|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q189P	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.Q294P(2)									ATCAATATGCAGACTTGTAAA	0.353000													50	133					0	0	0.870114	0	0
RNF213	57674	broad.mit.edu	37	17	78357570	78357570	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78357570C>T	ENST00000582970.1	+	59	14307	c.14164C>T	c.(14164-14166)Cca>Tca	p.P4722S	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2795S|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.P4771S|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.P4771S(1)|p.P2795S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATATGGTGACCCAGTGACCTT	0.468000													15	132					0	0	0.479597	0	0
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46094344C>A	ENST00000323040.4	-	2	1725	c.781G>T	c.(781-783)Gag>Tag	p.E261*	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637000													7	7					2.80697e-09	3.08767e-09	0.387290	1	0
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65849892C>T	ENST00000395325.3	+	6	669	c.512C>T	c.(511-513)tCa>tTa	p.S171L	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S228L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S158L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.S171L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGGGCGGCATCATCAATTCTG	0.403000													59	239					0	0	0.870114	0	0
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:136872465C>G	ENST00000409817.1	-	1	1348	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CXCR4_ENST00000241393.3_Missense_Mutation_p.E345Q|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	345					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.E349Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTGAAGACTCAGACTCAGTG	0.403000													15	36					0	0	0.539581	0	0
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:108576016C>A	ENST00000265174.4	-	8	1208	c.936G>T	c.(934-936)gcG>gcT	p.A312A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.A312A(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTTCATGAGTCGCAGTCAGAA	0.458000													55	95					4.6707e-30	5.83538e-30	0.870114	1	0
BLOC1S2	282991	broad.mit.edu	37	10	102039910	102039910	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102039910T>C	ENST00000441611.1	-	3	456	c.239A>G	c.(238-240)tAc>tGc	p.Y80C	BLOC1S2_ENST00000370372.2_Missense_Mutation_p.Y123C			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	p.Y123C(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		ATCCAACTTGTAAGCTGCCTG	0.368000													33	166					0	0	0.804634	0	0
DEFB113	245927	broad.mit.edu	37	6	49936492	49936492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:49936492C>T	ENST00000398718.1	-	2	146	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	49					defense response to bacterium	extracellular region		p.W49*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ATACATATTCCCAGCTGTTGC	0.388000													3	39					0	0	0.184627	0	0
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:47684541G>T	ENST00000283303.2	+	7	2190		c.e7-1		GPR115_ENST00000327753.3_Splice_Site|GPR115_ENST00000371220.1_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTTGCCACAGGGTTTTTTCA	0.393000													33	18					9.73076e-26	1.1923e-25	0.827153	1	0
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113323366G>C	ENST00000297405.5	-	50	7970	c.7726C>G	c.(7726-7728)Cct>Gct	p.P2576A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2506A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2536A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2472A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2576	Sushi 14.					integral to membrane|plasma membrane		p.P2536A(2)|p.P2576A(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATGAGGTGGGGATTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	163					0	0	0.779181	0	0
ETS2	2114	broad.mit.edu	37	21	40194759	40194759	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:40194759C>T	ENST00000360214.3	+	11	1816	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	ETS2_ENST00000360938.3_Silent_p.F452F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	452					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.F452F(4)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCTGGGGTTCACGCCCGAGG	0.632000													15	31					0	0	0.479597	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31850252C>T	ENST00000397525.1	-	10	1613	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E301K|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E143K|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E464K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	464						nucleus	protein binding|protein transporter activity	p.E464K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGTCTCTTCTAGGTGT	0.483000													31	325					0	0	0.769981	0	0
ASPM	259266	broad.mit.edu	37	1	197069646	197069646	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:197069646C>G	ENST00000367409.4	-	18	8991	c.8735G>C	c.(8734-8736)aGt>aCt	p.S2912T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2912	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding	p.S2912T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATGATAACACTGCTTCTGAT	0.299000													10	61					0	0	0.361761	0	0
ABCC4	10257	broad.mit.edu	37	13	95862948	95862948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:95862948G>A	ENST00000376887.4	-	5	733	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q132*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q207*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q207*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	207	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Q207*(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGCTTACCTGATCAAACTTG	0.458000													24	297					0	0	0.681144	0	0
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:21860668C>G	ENST00000399982.2	-	33	6833	c.6769G>C	c.(6769-6771)Gat>Cat	p.D2257H	CHD8_ENST00000557364.1_Missense_Mutation_p.D2257H|CHD8_ENST00000430710.3_Missense_Mutation_p.D1978H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.D2257H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCTTACATCTTTGATTTGA	0.463000													105	313					0	0	0.870114	0	0
BSN	8927	broad.mit.edu	37	3	49690545	49690545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49690545G>T	ENST00000296452.4	+	5	3670	c.3556G>T	c.(3556-3558)Gag>Tag	p.E1186*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1186					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E1186*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCGCTGAGGAGGCTTATGA	0.652000													4	9					0.00909568	0.00921536	0.150653	1	0
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15760843C>T	ENST00000378076.3	-	2	618	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	89					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E89K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCCCCCTTCCACGATATCG	0.567000													4	20					0	0	0.248553	0	0
NOX4	50507	broad.mit.edu	37	11	89184980	89184980	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:89184980G>A	ENST00000535633.1	-	3	475	c.165C>T	c.(163-165)ctC>ctT	p.L55L	NOX4_ENST00000528341.1_Silent_p.L54L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Silent_p.L55L|NOX4_ENST00000413594.2_Silent_p.L100L|NOX4_ENST00000532825.1_Silent_p.L55L|NOX4_ENST00000263317.4_Silent_p.L79L|NOX4_ENST00000527956.1_Silent_p.L55L|NOX4_ENST00000525196.1_Silent_p.L79L|NOX4_ENST00000424319.1_Silent_p.L55L|NOX4_ENST00000542487.1_Silent_p.L55L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Silent_p.L79L|NOX4_ENST00000527626.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	79					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAGCCAAGAGTGTTCGGC	0.413000													79	445					0	0	0.870114	0	0
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:98509822G>A	ENST00000359863.4	+	18	2394	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E728K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E729K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E729K(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAAAATGAACAAATGCT	0.483000													33	46					0	0	0.812448	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670723	55670723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55670723C>A	ENST00000527223.2	-	12	1535	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G106V|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A492S|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A391S|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A445S|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	445								p.A492S(1)									GAAGGCCTGGCCCCGGTCTGT	0.617000													6	21					0.00307968	0.00313977	0.278610	1	0
COL11A1	1301	broad.mit.edu	37	1	103440440	103440440	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:103440440C>A	ENST00000358392.2	-	36	3108		c.e36-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTGAGGACCCTGGAAATAAA	0.383000													12	42					3.07112e-06	3.24173e-06	0.387290	1	0
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	C	A	rs147705128	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:28993526C>A	ENST00000359747.4	+	15	3177	c.3148C>A	c.(3148-3150)Cga>Aga	p.R1050R	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.R1031R|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1031					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R1050R(2)|p.R1031R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGTAACACGATACAGTAA	0.438000													145	249					2.60731e-47	3.43958e-47	0.870114	1	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000													72	161					0	0	0.870114	0	0
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100957082C>T	ENST00000548884.1	+	11	1775	c.1234C>T	c.(1234-1236)Ctt>Ttt	p.L412F	NR1H4_ENST00000392986.3_Missense_Mutation_p.L416F|NR1H4_ENST00000551379.1_Missense_Mutation_p.L426F|NR1H4_ENST00000549996.1_Missense_Mutation_p.L365F|NR1H4_ENST00000188403.7_Missense_Mutation_p.L422F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L412F(2)|p.L426F(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GGAGCCACTTCTTGATGTGCT	0.383000													27	104					0	0	0.750413	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14710889C>G	ENST00000547437.1	+	12	866	c.789C>G	c.(787-789)ggC>ggG	p.G263G	CLEC17A_ENST00000397439.2_Silent_p.G246G|CLEC17A_ENST00000417570.1_Silent_p.G263G	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	p.G263G(2)									CCTTTGAGGGCAAGTGTTACT	0.532000													17	84					0	0	0.592651	0	0
CD300A	11314	broad.mit.edu	37	17	72469792	72469792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72469792C>T	ENST00000360141.3	+	2	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	53	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.P53L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCAGACCACCACAGATTTTC	0.547000													16	127					0	0	0.592651	0	0
GPR35	2859	broad.mit.edu	37	2	241569594	241569594	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241569594C>T	ENST00000319838.5	+	6	1167	c.225C>T	c.(223-225)ttC>ttT	p.F75F	GPR35_ENST00000438013.2_Silent_p.F106F|GPR35_ENST00000403859.1_Silent_p.F75F|GPR35_ENST00000407714.1_Silent_p.F75F|GPR35_ENST00000430267.1_Silent_p.F75F	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	75						integral to plasma membrane	G-protein coupled receptor activity	p.F75F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCTTGCCCTTCGTGCTGCACT	0.627000													4	19					0	0	0.278610	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42478467C>T	ENST00000434000.1	-	9	1026	c.744G>A	c.(742-744)ggG>ggA	p.G248G	GPATCH8_ENST00000591680.1_Silent_p.G326G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326						intracellular	nucleic acid binding|zinc ion binding	p.G326G(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCAGAGGTCCCTTCCTCCG	0.448000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	271					0	0	0.870114	0	0
MYO3B	140469	broad.mit.edu	37	2	171375965	171375965	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171375965C>T	ENST00000334231.6	+	30	3517	c.3517C>T	c.(3517-3519)Cat>Tat	p.H1173Y	MYO3B_ENST00000408978.4_Missense_Mutation_p.H1164Y|MYO3B_ENST00000409044.3_Missense_Mutation_p.H1137Y|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1164					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.H1164Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCTCTGTACATCGTAGGAG	0.478000													19	290					0	0	0.575678	0	0
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60889133G>A	ENST00000347785.3	+	6	1022	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	286	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.E286K(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCATCTGTGAAGGCACCGT	0.647000													8	21					0	0	0.411799	0	0
SUOX	6821	broad.mit.edu	37	12	56397693	56397693	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56397693G>A	ENST00000394109.3	+	3	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	SUOX_ENST00000356124.4_Missense_Mutation_p.D174N|SUOX_ENST00000394115.2_Missense_Mutation_p.D174N|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D174N|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.D174N			P51687	SUOX_HUMAN	sulfite oxidase	174	Hinge (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGAGACCTCTGACCCTTATGC	0.547000													3	26					0	0	0.150653	0	0
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:137688241C>T	ENST00000371817.3	+	35	3235	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P941S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGACGGCCCAGCTGGCCC	0.577000													13	8					0	0	0.539581	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:24911677T>A	ENST00000313367.2	-	3	559	c.108A>T	c.(106-108)gaA>gaT	p.E36D	OSBPL3_ENST00000352860.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E36D|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E36D	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	36					lipid transport		lipid binding|protein binding	p.E36D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCACCACTTCCCAGCTGT	0.413000													41	79					0	0	0.870114	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683366	140683366	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140683366A>T	ENST00000239451.4	-	1	246	c.67T>A	c.(67-69)Tgt>Agt	p.C23S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGTACACACGCTGTCCCC	0.597000													7	73					0	0	0.387290	0	0
KIAA1549	57670	broad.mit.edu	37	7	138595905	138595905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:138595905G>C	ENST00000440172.1	-	4	3180	c.3132C>G	c.(3130-3132)ttC>ttG	p.F1044L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.F1044L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.F994L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1044						integral to membrane		p.F994L(1)|p.F1044L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTGAACTTGGAACCTGGACT	0.343000			O	BRAF	pilocytic astrocytoma								9	29					0	0	0.361761	0	0
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:15495391C>T	ENST00000383788.5	-	16	1368	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Missense_Mutation_p.E405K|COLQ_ENST00000603808.1_Missense_Mutation_p.E416K|COLQ_ENST00000383786.5_Missense_Mutation_p.E381K|COLQ_ENST00000383787.2_Missense_Mutation_p.E406K|COLQ_ENST00000383781.4_Missense_Mutation_p.E405K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	415					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.E405K(2)|p.E415K(2)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCACAGTCCTCCACACCCTCA	0.587000													16	45					0	0	0.575678	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273625	99273625	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:99273625A>T	ENST00000408927.3	+	4	348		c.e4-1		RAP1GDS1_ENST00000408900.3_Splice_Site|RAP1GDS1_ENST00000264572.7_Splice_Site|RAP1GDS1_ENST00000453712.2_Splice_Site|RAP1GDS1_ENST00000339360.5_Splice_Site|RAP1GDS1_ENST00000380158.4_Splice_Site|RAP1GDS1_ENST00000512857.1_Splice_Site	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1								binding|GTPase activator activity	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTATTTTCAGAGTTTATGC	0.358000			T	NUP98	T-ALL								41	71					0	0	0.870114	0	0
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150437062A>G	ENST00000401000.4	+	9	1458	c.1393A>G	c.(1393-1395)Agt>Ggt	p.S465G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S491G|RPRD2_ENST00000539519.1_Missense_Mutation_p.S465G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	491	Ser-rich.						protein binding	p.S491G(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCTCACCAGTGGCCTGAA	0.527000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	14					0	0	0.479597	0	0
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:39161449G>T	ENST00000301819.6	+	8	1039	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E239*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E288*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	288							binding	p.E288*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAGGCACTAGAGACAAGGGA	0.448000													10	77					3.7963e-18	4.48989e-18	0.654019	1	0
CFDP1	10428	broad.mit.edu	37	16	75429091	75429091	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:75429091C>G	ENST00000283882.3	-	5	679	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	183	Hydrophilic.				multicellular organismal development			p.D183H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						GATGTAGCATCCACTTCCTTA	0.418000													23	63					0	0	0.706142	0	0
ATG2B	55102	broad.mit.edu	37	14	96809570	96809570	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96809570C>A	ENST00000359933.4	-	5	1523	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	210								p.V210V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGTTGATGCACATTAATTC	0.433000													36	144					4.17593e-13	4.76552e-13	0.834066	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33527444G>A	ENST00000504830.1	-	24	4969	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1460L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1545	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1545L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACTGGCTGACAGTTTGTC	0.438000										HNSCC(64;0.19)			16	61					0	0	0.500413	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:57218183A>C	ENST00000396721.2	-	5	807	c.677T>G	c.(676-678)tTg>tGg	p.L226W	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L270W|SDR16C5_ENST00000303749.3_Missense_Mutation_p.L270W			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	270					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L270W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAAGTATAACAACTTTGGCAT	0.358000													27	87					0	0	0.717897	0	0
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:103487276G>C	ENST00000358392.2	-	9	1648	c.1331C>G	c.(1330-1332)gCa>gGa	p.A444G	COL11A1_ENST00000370096.3_Missense_Mutation_p.A432G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A393G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A316G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A432G(2)|p.A444G(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCAACCACTGCTGGTTCTCC	0.358000													21	114					0	0	0.693898	0	0
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:160510217G>T	ENST00000356956.1	+	43	6547	c.6399G>T	c.(6397-6399)caG>caT	p.Q2133H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2133					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.Q2133H(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGAGGTGCAGATGGTGAATG	0.502000													44	54					9.57592e-29	1.18826e-28	0.870114	1	0
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:118579310G>A	ENST00000263239.2	+	5	863	c.735G>A	c.(733-735)agG>agA	p.R245R	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R245R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAGTTAAGGTTCATGCCCA	0.423000													29	215					0	0	0.760397	0	0
FPR2	2358	broad.mit.edu	37	19	52272902	52272902	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272902C>A	ENST00000598776.1	+	2	1763	c.991C>A	c.(991-993)Cca>Aca	p.P331T	FPR2_ENST00000598953.1_Missense_Mutation_p.P331T|FPR2_ENST00000340023.6_Missense_Mutation_p.P331T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACTCAGCCCCAACTAATGA	0.537000													49	237					6.3091e-27	7.76954e-27	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179396241C>T	ENST00000589042.1	-	358	105325	c.105101G>A	c.(105100-105102)gGg>gAg	p.G35034E	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32466E|TTN_ENST00000359218.5_Missense_Mutation_p.G26094E|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26161E|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33393E|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25969E|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33393							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26094E(2)|p.G32464E(2)|p.G32466E(2)|p.G25969E(2)|p.G26161E(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAATCCCCTCCTGTCAC	0.493000													160	132					0	0	0.870114	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:160259585C>T	ENST00000264431.4	+	12	2194	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.S580L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTATTGCAGTCACATCATCGC	0.383000													123	391					0	0	0.870114	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:11082809G>T	ENST00000304623.8	-	16	2976	c.2788_splice	c.e16+1	p.I929_splice	CTNND2_ENST00000458100.2_Splice_Site_p.I496_splice|CTNND2_ENST00000359640.2_Splice_Site_p.I871_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.I838_splice|CTNND2_ENST00000503622.1_Splice_Site_p.I592_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000													74	341					8.2577e-42	1.07963e-41	0.870114	1	0
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11297963C>A	ENST00000361445.4	-	13	2221	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	715					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.V715V(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGAGTCGGCCCACAGTGCAGA	0.577000													60	50					2.40041e-21	2.88562e-21	0.870114	1	0
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:42530068G>C	ENST00000282030.5	+	4	1059	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	255						nucleus	DNA binding	p.E255Q(2)|p.E201Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCGCTCTTGAGCCCGTGGC	0.537000									Schinzel-Giedion syndrome				79	188					0	0	0.870114	0	0
ADAM29	11086	broad.mit.edu	37	4	175898412	175898412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:175898412T>G	ENST00000359240.3	+	5	2406	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	ADAM29_ENST00000445694.1_Missense_Mutation_p.I579R|ADAM29_ENST00000404450.4_Missense_Mutation_p.I579R|ADAM29_ENST00000514159.1_Missense_Mutation_p.I579R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	579	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I579R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCAATGACATAATGTGCTGG	0.423000													33	736					0	0	0.819951	0	0
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:60688050G>C	ENST00000335712.6	-	4	2224	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	BCL11A_ENST00000537768.1_Missense_Mutation_p.S335C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S632C|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S632C|BCL11A_ENST00000356842.4_Missense_Mutation_p.S666C	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	666					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S666C(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGCCTGGAGGCCGCGTA	0.612000			T	IGH@	B-CLL								21	11					0	0	0.608945	0	0
DLGAP5	9787	broad.mit.edu	37	14	55621377	55621377	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:55621377T>G	ENST00000247191.2	-	15	2237	c.2021A>C	c.(2020-2022)gAa>gCa	p.E674A	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E674A	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	674					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.E674A(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTCACATGTTCACTTTTCGT	0.358000													8	145					0	0	0.387290	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593530	45593530	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:45593530C>T	ENST00000270257.4	+	3	405	c.158C>T	c.(157-159)tCc>tTc	p.S53F	GEMIN7_ENST00000591747.1_Missense_Mutation_p.S53F|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.S53F|GEMIN7_ENST00000391951.2_Missense_Mutation_p.S53F|CTB-179K24.4_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	53					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	p.S53F(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TCCCTGGAATCCCAGGAGCAG	0.627000													3	12					0	0	0.150653	0	0
CTNND1	1500	broad.mit.edu	37	11	57572182	57572182	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57572182G>A	ENST00000524630.1	+	9	2165	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	CTNND1_ENST00000361332.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.C551Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.C497Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	551					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.C551Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGGGAATGTGATGGTTTA	0.463000													18	112					0	0	0.592651	0	0
KMT2A	4297	broad.mit.edu	37	11	118362018	118362018	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:118362018C>A	ENST00000534358.1	+	14	4827	c.4804C>A	c.(4804-4806)Ctt>Att	p.L1602I	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1564I|KMT2A_ENST00000389506.5_Missense_Mutation_p.L1602I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.L1602I(2)									ATGTGAGAATCTTTCAGGTAC	0.373000													58	264					4.09171e-25	4.98847e-25	0.870114	1	0
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142460350T>C	ENST00000486171.1	+	5	582	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Y175H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	175	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Y175H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGAAGCCTCCTACCCTGGAAA	0.532000													145	388					0	0	0.870114	0	0
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:129903116T>A	ENST00000368654.3	-	13	7363	c.6988A>T	c.(6988-6990)Aag>Tag	p.K2330*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1970*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K2330*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGTGGGCTTGTCAGTGCCT	0.522000													183	349					0	0	0.870114	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52147285C>A	ENST00000360844.6	-	5	800	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	253	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.L246L(2)|p.L253L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGGATCCGCAGGGCTGGGA	0.592000													17	16					5.35267e-07	5.70769e-07	0.557998	1	0
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22369243C>A	ENST00000332663.2	+	1	766	c.668C>A	c.(667-669)gCc>gAc	p.A223D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTTCTGGCCTTGTTCAAG	0.478000													147	937					4.08981e-53	5.46429e-53	0.870114	1	0
DDI1	414301	broad.mit.edu	37	11	103908684	103908684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103908684G>T	ENST00000302259.3	+	1	1377	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	378					proteolysis		aspartic-type endopeptidase activity	p.E378D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCAAGATGAGTCTTCGGACA	0.458000													8	53					3.03607e-14	3.48374e-14	0.411799	1	0
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:187088747T>C	ENST00000259030.2	+	2	437	c.327T>C	c.(325-327)gaT>gaC	p.D109D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	109					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.D109D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCTCGGATAGCACCATGA	0.507000													19	106					0	0	0.639603	0	0
RYR1	6261	broad.mit.edu	37	19	38934893	38934893	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38934893C>G	ENST00000355481.4	+	6	660	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	RYR1_ENST00000359596.3_Missense_Mutation_p.R177G|RYR1_ENST00000360985.3_Missense_Mutation_p.R177G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	177	MIR 2.		R -> C (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R177G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTCCGAGCGCTACCTGGT	0.602000													5	36					0	0	0.184627	0	0
SDK2	54549	broad.mit.edu	37	17	71427710	71427710	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71427710C>A	ENST00000392650.3	-	11	1411	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	SDK2_ENST00000388726.3_Missense_Mutation_p.G471W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	471	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGTAGGTCCCCGCATCGGAG	0.627000													24	63					2.79863e-10	3.11361e-10	0.681144	1	0
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:9784051T>A	ENST00000304374.2	+	1	794	c.398T>A	c.(397-399)gTc>gAc	p.V133D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V133D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACCTGTGCGTCATCAGCGTG	0.627000													14	13					0	0	0.500413	0	0
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149749093G>A	ENST00000451292.1	+	6	675	c.565_splice	c.e6-1	p.G189_splice	TCOF1_ENST00000377797.3_Splice_Site_p.G189_splice|TCOF1_ENST00000439160.2_Splice_Site_p.G189_splice|TCOF1_ENST00000323668.7_Splice_Site_p.G189_splice|TCOF1_ENST00000394269.3_Splice_Site_p.G189_splice|TCOF1_ENST00000445265.2_Splice_Site_p.G189_splice|TCOF1_ENST00000504761.2_Splice_Site_p.G189_splice|TCOF1_ENST00000513346.1_Splice_Site_p.G189_splice			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development	nucleolus	protein binding|transporter activity	p.G189G(4)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCTCAGGGATGGTGTCAG	0.627000													5	31					0	0	0.217242	0	0
ITGA3	3675	broad.mit.edu	37	17	48156475	48156475	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48156475G>A	ENST00000320031.8	+	20	2766	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	ITGA3_ENST00000007722.7_Silent_p.G812G	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	812					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.G812G(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGGCCTGGGGACCCTGGTCC	0.597000													8	27					0	0	0.361761	0	0
ACTR8	93973	broad.mit.edu	37	3	53908248	53908248	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:53908248T>C	ENST00000335754.3	-	8	1155	c.1055A>G	c.(1054-1056)cAt>cGt	p.H352R	ACTR8_ENST00000482349.1_Missense_Mutation_p.H241R|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.H352R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGATCTAAATGACAAAAAGT	0.343000													8	14					0	0	0.335167	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:121638051G>T	ENST00000393386.2	+	10	1642	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	411					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D411Y(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATGCCTACTGATAATCCTGG	0.348000													40	46					1.70205e-38	2.19586e-38	0.870114	1	0
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62655685G>C	ENST00000377892.1	+	12	1842	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	SLC3A2_ENST00000338663.7_Missense_Mutation_p.V408L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V478L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V509L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V447L|SLC3A2_ENST00000536981.1_Missense_Mutation_p.V54L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V510L|SLC3A2_ENST00000538682.1_3'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	509					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.V540L(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAACATGACTGTGAAGGTAAG	0.537000													34	70					0	0	0.769981	0	0
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160209914G>C	ENST00000368073.3	-	4	730	c.296C>G	c.(295-297)tCa>tGa	p.S99*	DCAF8_ENST00000368074.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.S99*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.S253*|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99						CUL4 RING ubiquitin ligase complex	protein binding	p.S99*(2)|p.S253*(2)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctcttcctctGAGCGGTCATG	0.527000													62	61					0	0	0.870114	0	0
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:110048969C>G	ENST00000309415.6	+	6	1416	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3.						zinc ion binding	p.L472L(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACCTGGCGCTCTACGCCTACA	0.632000													8	14					0	0	0.361761	0	0
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104114738C>T	ENST00000361355.4	+	4	791	c.175C>T	c.(175-177)Cca>Tca	p.P59S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	59					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.P59S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAGGTCTCTCCACCAAATGA	0.318000													31	136					0	0	0.804634	0	0
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248343411A>T	ENST00000359682.2	+	1	124	c.124A>T	c.(124-126)Aac>Tac	p.N42Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATGGGAAACTCTGTCAT	0.522000													500	630					0	0	0.870114	0	0
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56382250G>A	ENST00000301295.6	+	7	2834	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	NLRP4_ENST00000346986.5_Silent_p.L748L|NLRP4_ENST00000587891.1_Silent_p.L729L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804							ATP binding	p.L804L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATGCTTCTGCGTAACAAGA	0.527000													69	147					0	0	0.870114	0	0
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	C	A	rs148078245	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:86902971C>A	ENST00000376238.4	-	12	1321	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M355I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	424					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.M424I(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCCACTTTCCATTTTCATGG	0.458000													140	181					3.75818e-72	5.10986e-72	0.870114	1	0
CAPN9	10753	broad.mit.edu	37	1	230910379	230910379	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:230910379T>A	ENST00000271971.2	+	8	1066		c.e8+2		RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Intron|CAPN9_ENST00000366666.2_Splice_Site	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAATTCTGGTACCGTGCTTG	0.507000													27	200					0	0	0.740014	0	0
KLHL4	56062	broad.mit.edu	37	X	86921526	86921526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:86921526C>A	ENST00000373119.4	+	11	2294	c.2149C>A	c.(2149-2151)Cta>Ata	p.L717I	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	717						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.L717I(2)		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						AGTGGTGAAGCTACCCTAAAG	0.358000													39	78					1.35964e-18	1.61326e-18	0.870114	1	0
TRAV35	28647	broad.mit.edu	37	14	22689801	22689801	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22689801G>T	ENST00000390462.1	+	0	10																											GATGCTCCTTGAACATTTATT	0.358000													4	6					0.00116845	0.00119792	0.217242	1	0
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:95756262C>A	ENST00000272418.2	-	11	1145	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.G313C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCGGAGGCCGTAACCTAGA	0.572000													55	149					2.41709e-19	2.88199e-19	0.870114	1	0
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Translation_Start_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:70806253G>A	ENST00000380675.2	+	0	3597				BDP1_ENST00000358731.4_Missense_Mutation_p.G1112S			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.G1112S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGCCTCTAGGTGAAATGCA	0.433000													14	62					0	0	0.500413	0	0
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43621828C>G	ENST00000398457.2	+	2	303	c.43C>G	c.(43-45)Cct>Gct	p.P15A	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.P15A(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	aaagccctgccctcaGGTGTG	0.552000													12	35					0	0	0.411799	0	0
PSG2	5670	broad.mit.edu	37	19	43576092	43576092	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43576092G>T	ENST00000406487.1	-	4	822	c.724C>A	c.(724-726)Ccc>Acc	p.P242T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGAATTCTGGGGAGGTCTGGA	0.498000													173	331					3.491e-97	4.81824e-97	0.870114	1	0
CRNKL1	51340	broad.mit.edu	37	20	20025969	20025969	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:20025969C>G	ENST00000377340.2	-	7	1298	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E262Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E411Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	423					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E423Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATTTTCTTCAAACTTGGCA	0.363000													31	207					0	0	0.819951	0	0
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26094815G>T	ENST00000313735.6	-	18	2316	c.2083C>A	c.(2083-2085)Ccc>Acc	p.P695T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.P695T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TAGAGCTTGGGGATCTGAATG	0.567000													5	68					0.014758	0.0149109	0.184627	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:106084040G>A	ENST00000357242.5	+	10	1819	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D543N|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D549N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D549N(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCAGAGTGATACTGGCAT	0.473000													129	339					0	0	0.870114	0	0
CEP170	9859	broad.mit.edu	37	1	243327639	243327639	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:243327639C>A	ENST00000366542.1	-	13	3674	c.3623G>T	c.(3622-3624)cGa>cTa	p.R1208L	CEP170_ENST00000366543.1_Missense_Mutation_p.R1110L|CEP170_ENST00000366544.1_Missense_Mutation_p.R1110L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1208	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.R1208L(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTCTGAGAGTCGAGAGATACT	0.423000													30	50					2.04263e-09	2.25198e-09	0.796494	1	0
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403000													128	151					0	0	0.870114	0	0
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:12502558C>A	ENST00000419318.1	-	4	1307	c.558G>T	c.(556-558)acG>acT	p.T186T	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.T218T			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403000													103	179					4.4634e-40	5.78384e-40	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:237753224A>G	ENST00000366574.2	+	30	4047	c.3730A>G	c.(3730-3732)Aac>Gac	p.N1244D	RYR2_ENST00000542537.1_Missense_Mutation_p.N1228D|RYR2_ENST00000360064.6_Missense_Mutation_p.N1242D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1244	4 X approximate repeats.				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.N1242D(2)		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)			CGTTAATACAAACAGGGATAT	0.398000													102	135					0	0	0.870114	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31378209A>G	ENST00000297142.3	-	2	996	c.674T>C	c.(673-675)cTt>cCt	p.L225P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	225					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L225P(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAATTATCAAGAGTCCCATG	0.527000													61	181					0	0	0.870114	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779566	156779566	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156779566C>T	ENST00000392306.2	-	6	770	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SH2D2A_ENST00000368199.3_Missense_Mutation_p.E201K|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E183K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	201	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E211K(1)|p.E201K(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGATTCTTCGGTCCTCAGG	0.582000													100	823					0	0	0.870114	0	0
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3541497C>G	ENST00000262919.5	+	8	1460	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	ATRN_ENST00000446916.2_Missense_Mutation_p.I464M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	464					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.I464M(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTTTGGTCACT	0.443000													49	162					0	0	0.870114	0	0
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:117660523T>A	ENST00000317775.6	-	26	4657	c.3972A>T	c.(3970-3972)ccA>ccT	p.P1324P	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.P1358P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1324					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTTACCTTTGGTTTGTCTG	0.552000													52	224					0	0	0.870114	0	0
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29001982C>G	ENST00000282397.4	-	9	1434	c.1183G>C	c.(1183-1185)Gta>Cta	p.V395L	FLT1_ENST00000541932.1_Missense_Mutation_p.V395L|FLT1_ENST00000539099.1_Missense_Mutation_p.V395L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	395	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.V395L(4)|p.V395I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCAGTTACGTCCTTGATA	0.388000													90	160					0	0	0.870114	0	0
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:108502082G>T	ENST00000368986.4	+	7	1519	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V308L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.V271L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTTACAAGAGGTGGTGGCTCG	0.423000													35	55					2.32173e-10	2.58697e-10	0.804634	1	0
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:10967706T>C	ENST00000254488.2	+	9	1203	c.1137T>C	c.(1135-1137)ttT>ttC	p.F379F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F379F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCCTGGCCTTTATTGCGTACC	0.557000													206	682					0	0	0.870114	0	0
MYLIP	29116	broad.mit.edu	37	6	16143378	16143378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:16143378C>T	ENST00000349606.4	+	3	553	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	MYLIP_ENST00000356840.3_Nonsense_Mutation_p.Q198*			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	198	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q198*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TAGCGAAGGGCAGAAACTGCT	0.443000													30	254					0	0	0.779181	0	0
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:49373271C>T	ENST00000293549.3	+	2	161	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	42					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.S42F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AACGTAGCCTCCTCCACGAAC	0.552000													40	86					0	0	0.870114	0	0
C7orf66	154907	broad.mit.edu	37	7	108524185	108524185	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:108524185T>C	ENST00000379007.2	-	2	281	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	76						integral to membrane		p.Q76R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCTGTATCTCTGATCCATCAT	0.403000													143	589					0	0	0.870114	0	0
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:1930451A>T	ENST00000380815.4	-	7	926	c.657T>A	c.(655-657)gtT>gtA	p.V219V	GMDS_ENST00000530927.1_Silent_p.V189V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V219V(2)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTTCGAGTAACGAAATTAG	0.433000													202	106					0	0	0.870114	0	0
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248737412A>G	ENST00000328782.2	-	1	668	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216T(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACCATGATGGGGGTGAG	0.572000													125	555					0	0	0.870114	0	0
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:66467425A>G	ENST00000273854.3	-	3	1444	c.844T>C	c.(844-846)Tgg>Cgg	p.W282R	EPHA5_ENST00000354839.4_Missense_Mutation_p.W282R|EPHA5_ENST00000432638.2_Missense_Mutation_p.W282R|EPHA5_ENST00000511294.1_Missense_Mutation_p.W282R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	282	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.W282R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCACCAGCCACTCCCCTTCG	0.532000										TSP Lung(17;0.13)			45	57					0	0	0.870114	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381247	19381247	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:19381247G>A	ENST00000389363.4	-	3	276	c.204C>T	c.(202-204)ttC>ttT	p.F68F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	68						integral to membrane		p.F68F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGAAGACAGCGAAGACTGCAG	0.592000													27	10					0	0	0.750413	0	0
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:36675196G>T	ENST00000399881.3	+	10	1061	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V342L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACATCACTGTGGACAGTGT	0.458000													140	224					4.05801e-98	5.61671e-98	0.870114	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140558439A>G	ENST00000239444.2	+	1	1069	c.824A>G	c.(823-825)aAc>aGc	p.N275S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		275	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N275S(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGAGTCAACGGAGAGATT	0.423000													20	340					0	0	0.639603	0	0
ZNF93	81931	broad.mit.edu	37	19	20045245	20045245	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20045245C>G	ENST00000343769.5	+	4	1509	c.1481C>G	c.(1480-1482)tCt>tGt	p.S494C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	494						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S494C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCAGTCCTCTTCCCTTACT	0.368000													29	131					0	0	0.769981	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743005	5743005	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:5743005A>C	ENST00000414202.2	+	9	1229	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	KIAA1432_ENST00000251879.6_Silent_p.G346G|KIAA1432_ENST00000449720.2_Silent_p.G267G|KIAA1432_ENST00000381532.2_Silent_p.G267G|KIAA1432_ENST00000418622.3_Silent_p.G267G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	346						integral to membrane		p.G267G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CACTTGGAGGAGATTTTGCGT	0.373000													20	152					0	0	0.608945	0	0
TMF1	7110	broad.mit.edu	37	3	69096968	69096968	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:69096968G>A	ENST00000543976.1	-	2	1134	c.888C>T	c.(886-888)ctC>ctT	p.L296L	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Silent_p.L296L|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	296					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.L296L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAGATGCAGAGAGAAGCTGAA	0.378000													43	64					0	0	0.870114	0	0
LSM5	23658	broad.mit.edu	37	7	32529942	32529942	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:32529942C>A	ENST00000450169.2	-	1	88	c.36G>T	c.(34-36)ctG>ctT	p.L12L	LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000409909.3_Intron|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409987.1_Silent_p.L12L	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.L12L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CTAAGGGCAGCAGCTGCGACG	0.617000													18	55					2.94398e-08	3.19751e-08	0.557998	1	0
OR6F1	343169	broad.mit.edu	37	1	247875710	247875710	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247875710T>A	ENST00000302084.2	-	1	395	c.348A>T	c.(346-348)gcA>gcT	p.A116A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCATGGCTGCCAGGAGGA	0.517000													27	109					0	0	0.750413	0	0
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32017941C>A	ENST00000375244.3	-	27	9474	c.9273G>T	c.(9271-9273)ctG>ctT	p.L3091L	TNXB_ENST00000375247.2_Silent_p.L3089L			P22105	TENX_HUMAN	tenascin XB	3136					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L3156L(2)|p.L3091L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGACCAGGAAGTGGT	0.642000													21	25					3.01185e-09	3.31054e-09	0.667858	1	0
NDUFAF7	55471	broad.mit.edu	37	2	37464981	37464981	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:37464981A>G	ENST00000002125.4	+	4	419	c.379A>G	c.(379-381)Agg>Ggg	p.R127G	NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R100G	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7									p.R127G(1)									GGGCCCAGGTAGGGGAACCCT	0.423000													20	84					0	0	0.693898	0	0
GPR65	8477	broad.mit.edu	37	14	88477258	88477258	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:88477258T>C	ENST00000267549.3	+	2	625	c.67T>C	c.(67-69)Ttt>Ctt	p.F23L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	23					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.F23L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGTTTACATCTTTGTGATTAT	0.358000													31	226					0	0	0.804634	0	0
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:35804322G>C	ENST00000392213.3	+	11	2005	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.E591Q	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	616					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E616Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACGGAGGAGCTAGCTGA	0.652000													13	44					0	0	0.500413	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706012	41706012	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41706012C>A	ENST00000379485.1	-	1	870	c.636G>T	c.(634-636)gaG>gaT	p.E212D	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E146D	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	212							protein binding	p.E212D(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGCTAGAGTCTCCTCCCGAA	0.562000													27	190					1.77063e-15	2.04777e-15	0.693898	1	0
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:7056721A>C	ENST00000310074.7	+	2	1392	c.1203A>C	c.(1201-1203)ctA>ctC	p.L401L	TADA2B_ENST00000512388.1_Silent_p.L326L|TADA2B_ENST00000515646.1_Silent_p.L309L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.L401L(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAAAGTCCTAAAGAAAAGGA	0.488000													5	23					0	0	0.184627	0	0
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184102332G>C	ENST00000204604.1	+	13	1694	c.1448G>C	c.(1447-1449)gGt>gCt	p.G483A	CHRD_ENST00000348986.3_Missense_Mutation_p.G443A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G483A|CHRD_ENST00000545352.1_Missense_Mutation_p.G113A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607000													63	178					0	0	0.870114	0	0
SPEF2	79925	broad.mit.edu	37	5	35654779	35654779	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35654779G>C	ENST00000440995.2	+	7	929	c.929G>C	c.(928-930)aGa>aCa	p.R310T	SPEF2_ENST00000356031.3_Missense_Mutation_p.R310T|SPEF2_ENST00000282469.6_Missense_Mutation_p.R310T|SPEF2_ENST00000509059.1_Missense_Mutation_p.R310T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	310					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R310T(2)		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)			AGGGAGAAAAGACGGCGGAAA	0.388000													22	108					0	0	0.717897	0	0
PLD1	5337	broad.mit.edu	37	3	171395480	171395480	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:171395480G>A	ENST00000342215.6	-	15	1659	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PLD1_ENST00000356327.5_Silent_p.T586T|PLD1_ENST00000351298.4_Silent_p.T624T|PLD1_ENST00000340989.4_Silent_p.T624T			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T624T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATGGACCCGGTATCTGTGA	0.488000													54	317					0	0	0.870114	0	0
UBC	7316	broad.mit.edu	37	12	125397990	125397990	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125397990C>T	ENST00000536769.1	-	1	1904	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	UBC_ENST00000538617.1_Missense_Mutation_p.E110K|UBC_ENST00000339647.5_Missense_Mutation_p.E110K|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	110	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E110K(1)|p.I106fs*10(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAATGCCTTCCTTGTCCTGG	0.522000													51	202					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179596652C>A	ENST00000589042.1	-	58	17174	c.16950G>T	c.(16948-16950)aaG>aaT	p.K5650N	TTN_ENST00000342992.6_Missense_Mutation_p.K4406N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5333N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5333	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4406N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGTACTCCTTTAAGACTT	0.433000													41	233					3.09479e-21	3.71121e-21	0.827153	1	0
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:111147283C>G	ENST00000485317.1	-	3	795	c.122G>C	c.(121-123)gGg>gCg	p.G41A	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G41A|KCNA2_ENST00000369770.3_Missense_Mutation_p.G41A|KCNA2_ENST00000316361.4_Missense_Mutation_p.G41A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	41						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G41A(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAACCGCAGCCCTGAGATGTT	0.572000													20	73					0	0	0.667858	0	0
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:142143645G>T	ENST00000262990.4	+	2	348	c.120_splice	c.e2+1	p.M40_splice	ZNF330_ENST00000421169.2_Splice_Site_p.W4_splice	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.M40I(2)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATGCCTCAATGGTATCAGCTT	0.363000													30	27					4.40578e-31	5.528e-31	0.819951	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100231420	100231420	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:100231420A>G	ENST00000231461.5	-	2	493	c.183T>C	c.(181-183)tcT>tcC	p.S61S	ST8SIA4_ENST00000451528.2_Silent_p.S61S	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	61					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.S61S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGAAGATTGAAGAGCCAGCCT	0.373000													16	87					0	0	0.575678	0	0
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	G	A	rs148297848	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:41010795G>A	ENST00000373161.1	+	2	316	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TSPO2_ENST00000470917.1_Missense_Mutation_p.R24H|TSPO2_ENST00000373158.2_Missense_Mutation_p.R24H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	24					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.R24H(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTTCACTCGTGATCACATG	0.552000													130	137					0	0	0.870114	0	0
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:109055932T>C	ENST00000261401.3	-	4	493	c.321A>G	c.(319-321)gtA>gtG	p.V107V	CORO1C_ENST00000421578.2_Silent_p.V2V|CORO1C_ENST00000420959.2_Silent_p.V160V|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Silent_p.V107V|CORO1C_ENST00000549772.1_Silent_p.V113V	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	107					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.V107V(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGATCTGCCATACCTGTTGGA	0.438000													15	29					0	0	0.557998	0	0
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:228497784C>A	ENST00000409066.1	-	1	252	c.18G>T	c.(16-18)ctG>ctT	p.L6L	C2orf83_ENST00000264387.4_Silent_p.L6L	NM_001162483.1	NP_001155955.1	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	6						membrane	folic acid binding|reduced folate carrier activity	p.L6L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTCCAAACGTCAGGGCATAGT	0.428000													110	163					1.22493e-33	1.55832e-33	0.870114	1	0
CUL5	8065	broad.mit.edu	37	11	107965125	107965125	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:107965125G>A	ENST00000393094.2	+	14	2067	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	484					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.G484D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TAGGAAGTTGGTATGCCAGCG	0.289000													20	80					0	0	0.667858	0	0
NCKAP1	10787	broad.mit.edu	37	2	183841674	183841674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:183841674C>A	ENST00000360982.2	-	16	2205	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y	NCKAP1_ENST00000361354.3_Missense_Mutation_p.D477Y	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	477					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.D483Y(1)|p.D483N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCCCCATCTTCAACTGTA	0.264000													7	89					3.09899e-07	3.31662e-07	0.307466	1	0
POLR2D	5433	broad.mit.edu	37	2	128610524	128610524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128610524T>A	ENST00000272645.4	-	2	285	c.229A>T	c.(229-231)Aga>Tga	p.R77*	POLR2D_ENST00000409698.1_Nonsense_Mutation_p.R39*|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409955.1_Nonsense_Mutation_p.R77*	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	77					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.R77*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		ATGGTCTCTCTGTTTTTGAAA	0.438000													22	171					0	0	0.729181	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92714702G>C	ENST00000257068.2	+	2	319	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	105					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.G105R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCTATGACGGCTGGGCCCT	0.572000													133	236					0	0	0.870114	0	0
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135431523C>T	ENST00000394143.1	+	6	5949	c.5658C>T	c.(5656-5658)ccC>ccT	p.P1886P	GPR112_ENST00000287534.4_Silent_p.P1823P|GPR112_ENST00000412101.1_Silent_p.P1681P|GPR112_ENST00000394141.1_Silent_p.P1681P|GPR112_ENST00000370652.1_Silent_p.P1886P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1886					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1886P(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAACATACCCACAGCTGAAG	0.443000													135	306					0	0	0.870114	0	0
VDAC3	7419	broad.mit.edu	37	8	42259420	42259420	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42259420C>T	ENST00000392935.3	+	7	584	c.441C>T	c.(439-441)ttC>ttT	p.F147F	VDAC3_ENST00000022615.4_Silent_p.F146F|VDAC3_ENST00000521158.1_Silent_p.F147F|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	146					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.F146F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGTTGGCCTTCGAAGGGTGGC	0.463000													11	77					0	0	0.411799	0	0
NMT2	9397	broad.mit.edu	37	10	15210517	15210517	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15210517G>C	ENST00000378165.4	-	1	175	c.95C>G	c.(94-96)aCg>aGg	p.T32R	NMT2_ENST00000378150.1_Missense_Mutation_p.R5G	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	32					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.T32R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGCGTGCTCCGTCTCCTCCTC	0.726000													3	6					0	0	0.115264	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:35541202C>A	ENST00000287272.2	+	5	728	c.708C>A	c.(706-708)atC>atA	p.I236I	UNC5D_ENST00000416672.1_Silent_p.I236I|UNC5D_ENST00000404895.2_Silent_p.I236I|UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000													57	100					2.69673e-31	3.38945e-31	0.870114	1	0
GLO1	2739	broad.mit.edu	37	6	38670747	38670747	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:38670747C>A	ENST00000373365.4	-	1	170	c.84_splice	c.e1+1	p.K28_splice		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	28					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	p.K28N(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	CTGTGCCCACCTTGGTACTGG	0.721000													4	6					1.23904e-05	1.29944e-05	0.184627	1	0
DIAPH3	81624	broad.mit.edu	37	13	60590252	60590252	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:60590252C>A	ENST00000400324.4	-	6	874	c.654G>T	c.(652-654)ggG>ggT	p.G218G	DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400319.1_Silent_p.G148G|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000377908.2_Silent_p.G207G|DIAPH3-AS1_ENST00000435636.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	218	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.G218G(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAATCCAAGCCCTTCATGTC	0.313000													12	84					0.0242445	0.0244282	0.479597	1	0
CLTCL1	8218	broad.mit.edu	37	22	19175510	19175510	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:19175510C>G	ENST00000263200.10	-	28	4489	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1473	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCTCCTCCTCTGTCAGCAGG	0.592000			T	?	ALCL								8	116					0	0	0.387290	0	0
NBEAP1	606	broad.mit.edu	37	15	20874844	20874844	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:20874844C>A	ENST00000556948.1	-	0	404																											ATTAATAACCCAGTAGTAATA	0.343000													16	194					1.56452e-12	1.77297e-12	0.557998	1	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397712.2_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													6	5					0	0	0.217242	0	0
LIPI	149998	broad.mit.edu	37	21	15535832	15535832	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15535832T>C	ENST00000344577.2	-	7	1002	c.977A>G	c.(976-978)aAg>aGg	p.K326R	LIPI_ENST00000536861.1_Missense_Mutation_p.K305R	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	305					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K326R(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTAAATAGCTTGGCTTGATA	0.328000													24	325					0	0	0.717897	0	0
BRINP3	339479	broad.mit.edu	37	1	190067152	190067152	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:190067152C>A	ENST00000367462.3	-	8	2528	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S664I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		766						extracellular region		p.S766I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATGGTTAACTACATAATTT	0.373000													64	419					7.14181e-18	8.43979e-18	0.870114	1	0
CYP24A1	1591	broad.mit.edu	37	20	52774070	52774070	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:52774070C>T	ENST00000216862.3	-	10	1684	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D289N	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	431					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.D431N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGACTTGAATCTTCAAAATTG	0.393000													37	212					0	0	0.870114	0	0
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79616095C>G	ENST00000296739.4	+	1	306	c.61C>G	c.(61-63)Cct>Gct	p.P21A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P21A(2)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAACCCTACTCCTGATCCTCA	0.473000													96	300					0	0	0.870114	0	0
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:215279129A>G	ENST00000312504.5	+	2	1014	c.212A>G	c.(211-213)cAt>cGt	p.H71R	VWC2L_ENST00000427124.1_Missense_Mutation_p.H71R|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	71	VWFC 1.					extracellular region		p.H71R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCCCTGGGCATTCCAACTGT	0.453000													34	52					0	0	0.804634	0	0
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103731G>T	ENST00000408890.4	+	1	383	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123								p.G123W(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATGAAAGGGGGGCTGTGTCG	0.701000													4	30					1.23904e-05	1.29944e-05	0.184627	1	0
PDE6A	5145	broad.mit.edu	37	5	149274852	149274852	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149274852G>T	ENST00000255266.5	-	13	1741	c.1620_splice	c.e13-1	p.A541_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	541					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCACCAGGGCCTGTGAACA	0.542000													36	116					2.09667e-21	2.52255e-21	0.788014	1	0
HPS5	11234	broad.mit.edu	37	11	18313029	18313029	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18313029A>T	ENST00000396253.3	-	15	2520	c.2058T>A	c.(2056-2058)aaT>aaA	p.N686K	HPS5_ENST00000438420.2_Missense_Mutation_p.N686K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.N800K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	800						cytosol		p.N800K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGAAGGGCTATTACTGTAAC	0.353000									Hermansky-Pudlak syndrome				7	60					0	0	0.361761	0	0
INTS1	26173	broad.mit.edu	37	7	1523686	1523686	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:1523686C>G	ENST00000389470.4	-	26	3867	c.3868G>C	c.(3868-3870)Gtg>Ctg	p.V1290L	INTS1_ENST00000404767.3_Missense_Mutation_p.V1128L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1128					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.V1290L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATGCGCCTCACGTAGCGTGAG	0.662000													3	12					0	0	0.150653	0	0
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:143181690G>A	ENST00000513000.1	-	12	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	INPP4B_ENST00000508116.1_Missense_Mutation_p.P215S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215S|INPP4B_ENST00000308502.4_Missense_Mutation_p.P215S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279000													65	91					0	0	0.870114	0	0
LRRCC1	85444	broad.mit.edu	37	8	86057622	86057622	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:86057622A>G	ENST00000414626.2	+	18	3805		c.e18-1		LRRCC1_ENST00000360375.3_Splice_Site			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						cell division|mitosis	centriole|nucleus		p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATGTCGATTTAGGTCCATCAA	0.264000													6	17					0	0	0.248553	0	0
C17orf70	80233	broad.mit.edu	37	17	79514800	79514800	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79514800C>G	ENST00000425898.2	-	1	724	c.255G>C	c.(253-255)tgG>tgC	p.W85C	C17orf70_ENST00000327787.8_Intron|C17orf70_ENST00000537152.1_Intron			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	0					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGCCTGGCTCCACGACAAGC	0.667000													2	1					0	0	0.115264	0	0
ICA1L	130026	broad.mit.edu	37	2	203653590	203653590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203653590G>A	ENST00000392237.2	-	12	1363	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	ICA1L_ENST00000358299.2_Silent_p.L402L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	402								p.L402L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAGGTCAAAGAGTTGTGAAG	0.483000													26	209					0	0	0.750413	0	0
FADS6	283985	broad.mit.edu	37	17	72875562	72875562	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72875562G>A	ENST00000310226.6	-	5	892	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	299					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.P298L(1)|p.P293L(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAGAGCCTGGGGAATAGATG	0.582000													6	29					0	0	0.278610	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	G	T	rs142320179		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:6606404G>T	ENST00000433363.2	-	5	834	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	SLC13A5_ENST00000381074.4_Silent_p.R158R|SLC13A5_ENST00000293800.6_Silent_p.R184R|SLC13A5_ENST00000573648.1_Silent_p.R201R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	201						integral to membrane	citrate transmembrane transporter activity	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACCTCTTCCGCTCTTGGTCT	0.632000													36	64					1.22674e-20	1.46628e-20	0.840704	1	0
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:315104G>T	ENST00000408968.3	+	2	687	c.369G>T	c.(367-369)cgG>cgT	p.R123R	IFITM1_ENST00000328221.5_Silent_p.R123R|IFITM1_ENST00000528780.1_Silent_p.R123R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	p.R123R(2)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAAAACGGGGTTACTAGT	0.527000													4	19					4.096e-09	4.49883e-09	0.217242	1	0
DNAH7	56171	broad.mit.edu	37	2	196664137	196664137	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:196664137T>A	ENST00000312428.6	-	55	10336	c.10236A>T	c.(10234-10236)ccA>ccT	p.P3412P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3412	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3412P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAGGGGGGTGGTTCAATGA	0.428000													73	350					0	0	0.870114	0	0
CD276	80381	broad.mit.edu	37	15	73991925	73991925	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:73991925A>G	ENST00000318443.5	+	2	248		c.e2-1		CD276_ENST00000537340.2_Intron|CD276_ENST00000561213.1_Splice_Site|CD276_ENST00000318424.5_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCTTTCTCCCAGGCAGGGGCA	0.637000													8	21					0	0	0.278610	0	0
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43508578G>C	ENST00000400427.1	+	5	958	c.562G>C	c.(562-564)Gtc>Ctc	p.V188L	UMODL1_ENST00000400424.1_Missense_Mutation_p.V188L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V260L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V260L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	260						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.V188L(2)|p.V260L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGATCAGCGTCCAGGTGCA	0.607000													8	12					0	0	0.361761	0	0
CEP152	22995	broad.mit.edu	37	15	49059597	49059597	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49059597T>A	ENST00000380950.2	-	16	2269	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	CEP152_ENST00000325747.5_Missense_Mutation_p.L601F|CEP152_ENST00000399334.3_Missense_Mutation_p.L694F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	694					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATGCTTTGCTAATAGGCTTT	0.438000													45	109					0	0	0.870114	0	0
PTGER2	5732	broad.mit.edu	37	14	52781297	52781297	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:52781297G>A	ENST00000245457.5	+	1	185	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	11						integral to plasma membrane	prostaglandin E receptor activity	p.E11K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCCCAGTCTGAGGACTGCGA	0.627000													4	8					0	0	0.217242	0	0
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:42511835G>C	ENST00000318522.5	+	9	1265	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	EML4_ENST00000402711.2_Missense_Mutation_p.D277H|EML4_ENST00000401738.3_Missense_Mutation_p.D346H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.D335H(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGGATAAAGATGGAAGGGT	0.368000			T	ALK	NSCLC								45	193					0	0	0.870114	0	0
CASP5	838	broad.mit.edu	37	11	104879735	104879735	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:104879735C>G	ENST00000393141.2	-	2	50	c.19G>C	c.(19-21)Gtt>Ctt	p.V7L	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000260315.3_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.V7L	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.V7L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACTCCTTCAACTCTGGGCACA	0.373000													8	82					0	0	0.307466	0	0
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52257047C>A	ENST00000597542.1	-	9	2314	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	TLR9_ENST00000360658.2_Nonsense_Mutation_p.G429*|TLR9_ENST00000494383.1_Missense_Mutation_p.R582L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCGAAGCTCCGCTGATGCGG	0.642000													28	51					9.65021e-13	1.09614e-12	0.750413	1	0
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31793152A>T	ENST00000396193.1	-	19	2749	c.2156T>A	c.(2155-2157)tTg>tAg	p.L719*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.L659*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.L659*	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L659*(2)|p.L719*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAAATGACGCAAAGGAGGCTT	0.483000													91	221					0	0	0.870114	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923746	144923746	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:144923746C>T	ENST00000529945.1	-	2	1640	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D375N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D375N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D401N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D304N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D25N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	238				R -> Q (in Ref. 4; CAD91152).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.D238N(2)|p.D401N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGTGGGAATCAGATACAGAC	0.438000			T	PDGFRB	MPD								25	318					0	0	0.729181	0	0
KRT82	3888	broad.mit.edu	37	12	52788853	52788853	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52788853G>T	ENST00000257974.2	-	9	1525	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGCTCGCAGGGGACATAGAG	0.632000													10	30					1.76689e-08	1.92334e-08	0.335167	1	0
PROS1	5627	broad.mit.edu	37	3	93646105	93646105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:93646105C>A	ENST00000394236.3	-	2	539	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTTTCCGGGTCATTTTCAAAG	0.393000													77	297					2.24849e-53	3.00965e-53	0.870114	1	0
KCTD1	284252	broad.mit.edu	37	18	24035815	24035815	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:24035815C>T	ENST00000417602.1	-	5	2489	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	KCTD1_ENST00000317932.7_Silent_p.G222G|KCTD1_ENST00000408011.3_Silent_p.G222G|KCTD1_ENST00000579973.1_Silent_p.G222G|KCTD1_ENST00000580059.1_Silent_p.G222G	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	222					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	p.G830G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTACTCCTCCCCCACAGGAGC	0.572000													18	98					0	0	0.575678	0	0
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116599299C>A	ENST00000395715.3	-	5	3206	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	TRPS1_ENST00000520276.1_Missense_Mutation_p.G868W|TRPS1_ENST00000519674.1_Missense_Mutation_p.G864W|TRPS1_ENST00000220888.5_Missense_Mutation_p.G864W|TRPS1_ENST00000519076.1_Missense_Mutation_p.G618W	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	864					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G877W(2)|p.G864W(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGAGGGCCCCAGACTTCTCT	0.547000									Langer-Giedion syndrome				12	39					1.2644e-06	1.34435e-06	0.592651	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99662084G>A	ENST00000543588.1	+	6	1407	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000292450.4_Silent_p.G422G|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G388E			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	231					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G422G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGTGTGGGAAAGCCTTCA	0.512000													26	79					0	0	0.760397	0	0
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24631533G>T	ENST00000396864.3	+	2	467	c.180_splice	c.e2+1	p.K60_splice	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	60					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.K60N(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTTCTTCAAGGTGAAAGGGC	0.532000													19	101					1.55795e-14	1.79048e-14	0.608945	1	0
METTL13	51603	broad.mit.edu	37	1	171756899	171756899	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171756899G>A	ENST00000361735.3	+	4	1404	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	METTL13_ENST00000362019.3_Missense_Mutation_p.D294N|METTL13_ENST00000367737.5_Missense_Mutation_p.D224N|METTL13_ENST00000458517.1_Missense_Mutation_p.D379N	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	380							methyltransferase activity|protein binding	p.D380N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGTGGGTGGGGACATTGGGGT	0.502000													14	106					0	0	0.575678	0	0
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6129473G>T	ENST00000316529.3	+	1	560	c.465G>T	c.(463-465)atG>atT	p.M155I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M155I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCATCATGCTCAGGAATG	0.502000													72	302					9.04243e-43	1.18328e-42	0.870114	1	0
BCLAF1	9774	broad.mit.edu	37	6	136594296	136594296	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136594296G>A	ENST00000531224.1	-	7	2134	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L	BCLAF1_ENST00000392348.2_Silent_p.L626L|BCLAF1_ENST00000353331.4_Silent_p.L626L|BCLAF1_ENST00000527536.1_Silent_p.L628L|BCLAF1_ENST00000530767.1_Silent_p.L455L|BCLAF1_ENST00000527759.1_Silent_p.L626L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	628					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.L628L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCTCGTTTAGGGTCATTGCA	0.408000													13	294					0	0	0.435327	0	0
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:58116633G>C	ENST00000357272.4	+	25	4553	c.4388G>C	c.(4387-4389)cGa>cCa	p.R1463P	FLNB_ENST00000348383.5_Missense_Mutation_p.R1463P|FLNB_ENST00000493452.1_Missense_Mutation_p.R1294P|FLNB_ENST00000429972.2_Missense_Mutation_p.R1463P|FLNB_ENST00000419752.2_Missense_Mutation_p.R1294P|FLNB_ENST00000295956.4_Missense_Mutation_p.R1463P|FLNB_ENST00000490882.1_Missense_Mutation_p.R1463P|FLNB_ENST00000358537.3_Missense_Mutation_p.R1463P			O75369	FLNB_HUMAN	filamin B, beta	1463	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R1463P(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGGGCCCACGAGGTAAGTGT	0.617000													10	49					0	0	0.411799	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724115	38724115	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:38724115G>T	ENST00000342213.2	-	1	1459	c.1113C>A	c.(1111-1113)acC>acA	p.T371T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	371						integral to membrane	sugar binding	p.T371T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCTGATGGGGTGATAGTGG	0.488000													11	107					1.08611e-07	1.16922e-07	0.387290	1	0
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:230020567C>G	ENST00000392054.3	-	3	576	c.237G>C	c.(235-237)ccG>ccC	p.P79P	PID1_ENST00000392055.3_Silent_p.P48P|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Silent_p.P81P|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81						cytoplasm		p.P79P(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTTCATCAGCGGTGTGGTCG	0.527000													85	276					0	0	0.870114	0	0
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54456044G>A	ENST00000296734.6	+	1	48	c.24G>A	c.(22-24)ccG>ccA	p.P8P	CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000503787.1_Silent_p.P8P|GPX8_ENST00000515370.1_Silent_p.P8P			Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGCTTACCCGCTAAAATGTT	0.443000													11	45					0	0	0.500413	0	0
NKTR	4820	broad.mit.edu	37	3	42680905	42680905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:42680905G>T	ENST00000232978.8	+	13	3897	c.3709G>T	c.(3709-3711)Gca>Tca	p.A1237S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1237					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.A1237S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAACCTGGCAGCACCTAATGC	0.478000													38	102					1.02591e-13	1.17441e-13	0.853193	1	0
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55681456G>A	ENST00000344514.1	-	1	602	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388000													26	111					0	0	0.750413	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:111519791C>A	ENST00000261486.5	-	18	1820	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.W515L(2)|p.W142L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TACAGCTTCCCACTGAGGCGC	0.453000													51	192					3.94638e-17	4.61884e-17	0.870114	1	0
VIM	7431	broad.mit.edu	37	10	17278356	17278356	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:17278356C>G	ENST00000544301.1	+	9	1750	c.1337C>G	c.(1336-1338)aCg>aGg	p.T446R	VIM_ENST00000224237.5_Missense_Mutation_p.T446R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	446	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.T446R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGATTAAGACGGTTGAAACT	0.353000													34	102					0	0	0.840704	0	0
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:142190928G>T	ENST00000519811.1	+	17	2989	c.2919G>T	c.(2917-2919)gcG>gcT	p.A973A	DENND3_ENST00000262585.2_Silent_p.A893A|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000424248.1_Silent_p.A841A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893								p.A893A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACAAGCGGTGGACGTGC	0.577000													17	41					2.32416e-17	2.73112e-17	0.624587	1	0
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:60566883G>T	ENST00000373886.3	+	17	2345	c.2341G>T	c.(2341-2343)Gtg>Ttg	p.V781L	BICC1_ENST00000263103.1_Missense_Mutation_p.V407L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	781					multicellular organismal development		RNA binding	p.V781L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCCAATCATGTGTCCTATAA	0.468000													96	179					1.39691e-52	1.86297e-52	0.870114	1	0
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62294197C>A	ENST00000378024.4	-	5	7966	c.7692G>T	c.(7690-7692)ggG>ggT	p.G2564G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2564					nervous system development	nucleus	protein binding	p.G2564G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACTTAGGCCCTTTCAACT	0.483000													64	170					7.45626e-27	9.16682e-27	0.870114	1	0
PRNP	5621	broad.mit.edu	37	20	4680383	4680383	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:4680383A>C	ENST00000379440.4	+	2	804	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PRNP_ENST00000430350.2_Missense_Mutation_p.N173H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	173	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.N173H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CAGCAACCAGAACAACTTTGT	0.493000													24	164					0	0	0.706142	0	0
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90020012A>T	ENST00000268122.4	-	9	1353	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	RHCG_ENST00000544600.1_Missense_Mutation_p.C429S	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.C429S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTCAAAGCAGTTCTCATCT	0.547000													25	62					0	0	0.760397	0	0
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:20404000G>A	ENST00000381150.1	-	4	591	c.201C>T	c.(199-201)gaC>gaT	p.D67D	SDC1_ENST00000254351.4_Silent_p.D67D|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.D67D	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	67					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.D67D(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGAGCTGCGTGTCCTTCCAAG	0.637000													47	50					0	0	0.870114	0	0
COL4A1	1282	broad.mit.edu	37	13	110817207	110817207	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:110817207A>T	ENST00000375820.4	-	46	4272		c.e46+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCTTCTCACCTTGCTGGC	0.597000													8	54					0	0	0.361761	0	0
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60636693C>T	ENST00000278853.5	+	2	272	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	91					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P91L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCAGGAGCCTGCAGTCTTC	0.577000													16	20					0	0	0.608945	0	0
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:48543473G>T	ENST00000317697.3	-	4	712	c.543C>A	c.(541-543)aaC>aaA	p.N181K	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N181K|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	181					intracellular signal transduction	cytoplasm|nucleus		p.N181K(2)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGCCTATTAGGTTGATGACTC	0.522000													10	72					5.16669e-11	5.79667e-11	0.387290	1	0
HERC2	8924	broad.mit.edu	37	15	28525302	28525302	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:28525302T>C	ENST00000261609.7	-	5	562	c.454A>G	c.(454-456)Att>Gtt	p.I152V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	152					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I152V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCAAGGCAATGAAATAGCGC	0.498000													5	112					0	0	0.217242	0	0
VPS13C	54832	broad.mit.edu	37	15	62212764	62212764	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:62212764G>T	ENST00000261517.5	-	56	7218	c.7145C>A	c.(7144-7146)tCt>tAt	p.S2382Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.S2382Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2339Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2339Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2382					protein localization			p.S2382Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTCCTGAAGAAATATGAAT	0.308000													10	34					2.80697e-09	3.08767e-09	0.387290	1	0
TSHR	7253	broad.mit.edu	37	14	81610458	81610458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:81610458C>A	ENST00000541158.2	+	11	2378	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	TSHR_ENST00000298171.2_Missense_Mutation_p.Q686K|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAGGCCTTCCAGAGGGATGT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						93	714					2.94851e-48	3.90377e-48	0.870114	1	0
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	C	A	rs145032542	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27169157C>A	ENST00000360046.5	-	2	715	c.650G>T	c.(649-651)cGc>cTc	p.R217L	HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.R217L|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGTTCGAGAGCGCTTAGGCTC	0.592000													7	23					0.000274275	0.000283179	0.307466	1	0
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124103792T>A	ENST00000360013.3	+	11	1992	c.1865T>A	c.(1864-1866)cTg>cAg	p.L622Q	KALRN_ENST00000240874.3_Missense_Mutation_p.L622Q|KALRN_ENST00000460856.1_Missense_Mutation_p.L622Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	622					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L622Q(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTCGACACCTGGAGGTGCGC	0.562000													24	102					0	0	0.639603	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285754	85285754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:85285754G>T	ENST00000450363.3	-	2	604	c.146C>A	c.(145-147)aCa>aAa	p.T49K	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.T49K|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCAACATCTGTATCTTTCTC	0.408000													58	397					2.32817e-41	3.03575e-41	0.870114	1	0
NTSR1	4923	broad.mit.edu	37	20	61386117	61386117	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61386117C>T	ENST00000370501.3	+	2	1166	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	265						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.V265V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGCTGACCGTCATGGTACGCC	0.617000													4	57					0	0	0.184627	0	0
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75265292C>T	ENST00000325680.7	+	5	3416	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q903*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Q1098*(2)|p.Q903*(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGTGGTCTTCAAGGGAGCCA	0.602000													77	67					0	0	0.870114	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175614714C>A	ENST00000348749.5	-	7	1039	c.962G>T	c.(961-963)cGc>cTc	p.R321L	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557000													85	87					9.24384e-23	1.11582e-22	0.870114	1	0
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:45397883C>G	ENST00000389039.6	-	18	2677	c.2292G>C	c.(2290-2292)cgG>cgC	p.R764R	DUOX2_ENST00000603300.1_Silent_p.R764R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	764					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	p.R764R(2)		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)		GGATGCGTTCCCGCTGCTGCT	0.557000													16	46					0	0	0.539581	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305589	110305589	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110305589G>C	ENST00000239690.4	-	4	998	c.624C>G	c.(622-624)atC>atG	p.I208M	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I179M	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	208								p.I208M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTTCTTACTGATAGTGACCC	0.363000													77	536					0	0	0.870114	0	0
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:169528470C>T	ENST00000367796.3	-	5	852	c.651G>A	c.(649-651)gtG>gtA	p.V217V	F5_ENST00000546081.1_Silent_p.V80V|F5_ENST00000367797.3_Silent_p.V217V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	217	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V217V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCATCAAACACAGCAAATA	0.463000													204	266					0	0	0.870114	0	0
TDRD3	81550	broad.mit.edu	37	13	61068588	61068588	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:61068588G>T	ENST00000196169.3	+	8	1246	c.458G>T	c.(457-459)gGt>gTt	p.G153V	TDRD3_ENST00000377894.2_Missense_Mutation_p.G153V|TDRD3_ENST00000377881.2_Missense_Mutation_p.G153V|TDRD3_ENST00000535286.1_Missense_Mutation_p.G246V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	153					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.G153V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTTGGAGGAGGTGGTGGTGGT	0.353000													18	133					1.73308e-25	2.11821e-25	0.608945	1	0
ITGB8	3696	broad.mit.edu	37	7	20371504	20371504	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:20371504G>T	ENST00000222573.3	+	1	759	c.75G>T	c.(73-75)tcG>tcT	p.S25S	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	25					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S25S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTCCCGCCTCGTTCCTCTGGG	0.542000													8	39					1.45105e-14	1.66894e-14	0.539581	1	0
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219507065G>A	ENST00000411696.2	-	7	4953	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1392W			P52746	ZN142_HUMAN	zinc finger protein 142	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1229W(2)|p.R1392W(2)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCCCACCCGCTCCCGGGCA	0.637000													43	54					0	0	0.870114	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21947917C>T	ENST00000406877.3	-	4	791	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R137H|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R125H|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	171					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R171H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTCTGTAAGCGTGCGCTAGA	0.428000													17	75					0	0	0.539581	0	0
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105515907C>G	ENST00000332180.5	+	10	764	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	226					endosome transport	WASH complex		p.S226C(2)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTACTGAAATCTGTCCATCAC	0.289000													24	42					0	0	0.717897	0	0
C20orf194	25943	broad.mit.edu	37	20	3262307	3262307	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3262307C>T	ENST00000252032.9	-	28	2659	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	864								p.M864I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTAGCAGCTCATGGGCTCCA	0.483000													28	196					0	0	0.750413	0	0
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58477469G>C	ENST00000344743.3	-	6	802	c.661C>G	c.(661-663)Cta>Gta	p.L221V	GLYAT_ENST00000529732.1_Missense_Mutation_p.L221V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	221					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.L221V(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTCCATTAGATCCCAGCAC	0.552000													45	93					0	0	0.870114	0	0
OR10A7	121364	broad.mit.edu	37	12	55615275	55615275	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55615275C>A	ENST00000326258.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S156Y(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTTCCTGTGTCTATGCTACAG	0.483000													14	220					4.7546e-09	5.20268e-09	0.500413	1	0
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	G	T	rs115610738	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:74682559G>T	ENST00000233331.7	+	2	179	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	INO80B_ENST00000409917.1_Missense_Mutation_p.G29C|INO80B_ENST00000469849.1_Intron	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	29					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G16C(2)|p.G29C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGCCTGGCGGGTGCCCATGG	0.562000													3	8					2.56e-06	2.71004e-06	0.150653	1	0
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11917571A>T	ENST00000323169.5	+	3	1134	c.803A>T	c.(802-804)gAg>gTg	p.E268V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E268V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACACTGGAGAGAGGCCTCAT	0.413000													46	41					0	0	0.870114	0	0
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:34295058T>C	ENST00000361162.6	-	14	1657	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	RBM39_ENST00000407261.4_Missense_Mutation_p.M274V|RBM39_ENST00000253363.6_Missense_Mutation_p.M431V|RBM39_ENST00000528062.3_Missense_Mutation_p.M409V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	431	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.M431V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGGTTAAACATGTTAGAGAGT	0.323000													41	97					0	0	0.870114	0	0
WNT9A	7483	broad.mit.edu	37	1	228109549	228109549	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228109549G>A	ENST00000272164.5	-	4	778	c.768C>T	c.(766-768)acC>acT	p.T256T	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	256					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CTTCATTGGTGGTGCTGCCCA	0.672000													3	22					0	0	0.115264	0	0
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48805800T>G	ENST00000316623.5	-	13	1989	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	512	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.T512P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGACAGGTGTACGAACCC	0.473000													11	116					0	0	0.411799	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540407	115540407	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:115540407A>G	ENST00000354462.3	+	6	622	c.464A>G	c.(463-465)cAt>cGt	p.H155R	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H323R|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H239R					pleckstrin homology domain containing, family S member 1									p.H323R(1)									GAGACATTCCATGCTGCATCC	0.423000													41	85					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179451993	179451993	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179451993G>T	ENST00000589042.1	-	307	64169	c.63945C>A	c.(63943-63945)acC>acA	p.T21315T	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.T18747T|TTN_ENST00000359218.5_Silent_p.T12375T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.T12442T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T19674T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T12250T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19674	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18747T(1)|p.T12250T(1)|p.T18745T(1)|p.T12442T(1)|p.T12375T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGGTAACGGTCGACCATG	0.488000													14	116					0.000308642	0.000318437	0.479597	1	0
CHMP4B	128866	broad.mit.edu	37	20	32436305	32436305	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32436305T>C	ENST00000217402.2	+	2	388	c.223T>C	c.(223-225)Tat>Cat	p.Y75H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	75					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.Y75H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAAGAAGAGGTATGAGAAGCA	0.567000													23	89					0	0	0.760397	0	0
LILRP2	79166	broad.mit.edu	37	19	55221963	55221963	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55221963C>T	ENST00000413439.1	+	0	1490																											CGTGACCCTGCTGTGTCAGTC	0.622000													21	82					0	0	0.608945	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696877	205696877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:205696877G>A	ENST00000367142.4	-	3	426	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	42						nucleus		p.R42*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTAGCTTCTCGGGGAGATGAT	0.378000													16	91					0	0	0.557998	0	0
DPP4	1803	broad.mit.edu	37	2	162876803	162876803	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:162876803A>T	ENST00000360534.3	-	14	1740	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	394					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.C394S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAAATGTGCAGTCCTGATGG	0.323000													9	80					0	0	0.307466	0	0
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76243112A>G	ENST00000298832.9	+	23	2511	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TTLL5_ENST00000557636.1_Missense_Mutation_p.K783R|TTLL5_ENST00000554510.1_Missense_Mutation_p.K278R|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.K320R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.K769R(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGCTGAAAAGAAATCAAAG	0.378000													230	112					0	0	0.870114	0	0
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56544115G>C	ENST00000390649.3	+	8	2415	c.2415G>C	c.(2413-2415)ctG>ctC	p.L805L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	805						mitochondrion|nucleolus	ATP binding	p.L805L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGCCAAGCTGAGGCATCCCA	0.607000													37	251					0	0	0.859065	0	0
MTG2	26164	broad.mit.edu	37	20	60775750	60775750	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:60775750C>T	ENST00000370823.3	+	7	856	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	MTG2_ENST00000436421.2_Missense_Mutation_p.P122S|MTG2_ENST00000536470.1_Missense_Mutation_p.P52S	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.P280F(1)									GGCCGACATCCCCGGCATCAT	0.637000													10	47					0	0	0.608945	0	0
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:58786579G>A	ENST00000589222.1	+	5	282		c.e5-1		BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCTAATGCAGATACATCAAG	0.343000													41	64					0	0	0.827153	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486733	20486733	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:20486733A>C	ENST00000573854.1	+	7	1058	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	ACSM2A_ENST00000396104.2_Missense_Mutation_p.Y315S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Y315S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Y315S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Y236S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Y87S|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.Y315S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCATTGTTTACCGGATGTTG	0.507000													68	251					0	0	0.870114	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716437	142716437	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:142716437C>G	ENST00000381779.4	-	2	2713	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E830Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E830Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	830						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTTGCTCCTCAAGGACC	0.398000													23	46					0	0	0.667858	0	0
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:22211041T>C	ENST00000374695.3	-	13	1713	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	545	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.D545G(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCGGGTTGGTCAAAGCGCAG	0.662000													5	16					0	0	0.217242	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503611	32503611	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32503611C>A	ENST00000327300.7	+	6	1248	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P322T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	361	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P361T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCTCCACCTCCTGCACCAGA	0.527000													34	162					2.04263e-09	2.25198e-09	0.796494	1	0
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21235014C>A	ENST00000233242.1	-	26	4853	c.4726G>T	c.(4726-4728)Ggg>Tgg	p.G1576W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1576W(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATACTTCCCATTGGTGTCA	0.413000													79	86					1.35321e-17	1.59272e-17	0.870114	1	0
EOGT	285203	broad.mit.edu	37	3	69050804	69050804	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:69050804C>G	ENST00000383701.3	-	9	1424	c.682G>C	c.(682-684)Gac>Cac	p.D228H	EOGT_ENST00000540764.1_Missense_Mutation_p.D127H|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000295571.5_Missense_Mutation_p.D228H	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase									p.D228H(1)									ATGACAATGTCACATTTAGCA	0.318000													7	46					0	0	0.278610	0	0
DACH1	1602	broad.mit.edu	37	13	72053322	72053322	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:72053322C>A	ENST00000305425.4	-	8	2277	c.1855G>T	c.(1855-1857)Gct>Tct	p.A619S	DACH1_ENST00000313174.7_Missense_Mutation_p.A471S|DACH1_ENST00000359684.2_Missense_Mutation_p.A671S|DACH1_ENST00000354591.4_Missense_Mutation_p.A417S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	669	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A619S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTTCCATAGCCAACTGCTTC	0.328000													30	111					7.63091e-17	8.90273e-17	0.834066	1	0
DLX6	1750	broad.mit.edu	37	7	96635683	96635683	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:96635683C>G	ENST00000518156.2	+	1	824	c.394C>G	c.(394-396)Cac>Gac	p.H132D	DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.H104D|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	14					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCAGTCCTACCACAACAGCAG	0.697000													3	2					0	0	0.115264	0	0
SACS	26278	broad.mit.edu	37	13	23913317	23913317	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:23913317G>A	ENST00000382298.3	-	10	5286	c.4698C>T	c.(4696-4698)atC>atT	p.I1566I	SACS_ENST00000382292.3_Silent_p.I1566I|SACS_ENST00000402364.1_Silent_p.I816I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1566					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGTCAGTGATATGGTACA	0.343000													4	97					0	0	0.217242	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:122263423T>A	ENST00000398250.1	+	2	502	c.150T>A	c.(148-150)ccT>ccA	p.P50P	PPAPDC1A_ENST00000369073.3_Silent_p.P40P|PPAPDC1A_ENST00000439221.1_Silent_p.P50P|PPAPDC1A_ENST00000398248.1_Silent_p.P50P|PPAPDC1A_ENST00000541332.1_Silent_p.P50P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	50					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.P50P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATAACATACCTACCCGCCTCA	0.393000													22	63					0	0	0.654019	0	0
ZNF713	349075	broad.mit.edu	37	7	55990964	55990964	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55990964G>C	ENST00000429591.2	+	2	196	c.158G>C	c.(157-159)aGg>aCg	p.R53T	MRPS17_ENST00000426595.1_Missense_Mutation_p.R53T|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAACTACAGGAATCTAGTT	0.512000													138	389					0	0	0.870114	0	0
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:72680629G>T	ENST00000261180.4	+	2	1044	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W316C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGATGGATGGGTTACGGATC	0.418000													72	108					1.43161e-34	1.83081e-34	0.870114	1	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709206	22709206	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22709206G>A	ENST00000314246.8	-	0	1190																											CACCTCAGAGGGCACTGCTGG	0.512000													3	28					0	0	0.278610	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140789165C>G	ENST00000520790.1	+	1	1396	c.1396C>G	c.(1396-1398)Ccg>Gcg	p.P466A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.P466A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGAACAACCCGCCAGGAGC	0.567000													5	10					0	0	0.307466	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318258	141318258	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:141318258C>T	ENST00000432126.2	+	12	1616	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KIAA0141_ENST00000194118.4_Silent_p.S494S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	494					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.S494S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGCCTCCAGCAGGGCTA	0.567000													41	208					0	0	0.870114	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101043	27101043	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27101043G>A	ENST00000359193.2	+	1	212	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	65					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.E65K(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGAGATCCTGGAACTGGCGGG	0.662000													13	65					0	0	0.479597	0	0
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:173998896C>T	ENST00000457714.1	+	7	2704	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	NLGN1_ENST00000545397.1_Missense_Mutation_p.P759S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P799S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P759S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P759S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GACCGCCTGTCCCCCAGATTA	0.458000													242	253					0	0	0.870114	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128066163G>C	ENST00000409947.1	-	16	1914	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	MAP3K2_ENST00000344908.5_Missense_Mutation_p.I544M			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	544	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.I544M(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		AAACCTACCAGATGTCTGCTT	0.453000													111	687					0	0	0.870114	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762655T>C	ENST00000392429.1	+	2	3466	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M363T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M363T	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363						integral to membrane		p.M363T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGTCATCTATGGCTCTCGGA	0.527000													35	154					0	0	0.840704	0	0
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111395637C>T	ENST00000535254.1	-	24	3169	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	BUB1_ENST00000409311.1_Silent_p.L997L|BUB1_ENST00000302759.6_Silent_p.L1054L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1054	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L1054L(2)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATACTTTCTTCAGCTTTTGCC	0.338000													99	256					0	0	0.870114	0	0
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89638909G>C	ENST00000369485.4	-	3	438	c.252C>G	c.(250-252)atC>atG	p.I84M	RNGTT_ENST00000369475.3_Missense_Mutation_p.I84M|RNGTT_ENST00000538899.1_Missense_Mutation_p.I24M|RNGTT_ENST00000265607.6_Missense_Mutation_p.I84M	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I84M(2)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTATATATTTGATTCCTTCTT	0.269000													17	34					0	0	0.639603	0	0
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800472G>C	ENST00000408964.2	+	1	1084	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	345								p.D345H(4)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCACGTCCCAGATTCTGCTTC	0.443000													23	54					0	0	0.654019	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	47					0	0	0.624587	0	0
GRIK1	2897	broad.mit.edu	37	21	30971253	30971253	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:30971253C>T	ENST00000399914.1	-	8	1624	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.R368Q|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000535441.1_Missense_Mutation_p.R370Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R368Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R368Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R368Q|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.R370Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R368Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	368					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R368Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCCACCGGGCCTGTGG	0.383000													34	172					0	0	0.769981	0	0
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	G	A	rs61748538		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94564460G>A	ENST00000370225.3	-	6	744	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R220C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	220			R -> C (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R220C(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTGCCCCGCGTCTCTGGCTG	0.602000													40	112					0	0	0.847076	0	0
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266182A>T	ENST00000379705.3	-	4	2045	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G	TRPC4_ENST00000379681.3_Silent_p.G396G|TRPC4_ENST00000379673.2_Silent_p.G396G|TRPC4_ENST00000379679.1_Silent_p.G223G|TRPC4_ENST00000358477.2_Silent_p.G396G|TRPC4_ENST00000447043.1_Silent_p.G396G|TRPC4_ENST00000355779.2_Silent_p.G396G|TRPC4_ENST00000426868.2_Silent_p.G396G|TRPC4_ENST00000338947.5_Silent_p.G223G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	396					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.G396G(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGGTGGTGGACCTTGCCTGT	0.433000													89	150					0	0	0.870114	0	0
ADCY1	107	broad.mit.edu	37	7	45743322	45743322	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:45743322G>A	ENST00000297323.7	+	16	2717	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	899					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.E899K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTTCTCAACGAGATCATCGC	0.592000													10	219					0	0	0.479597	0	0
EPYC	1833	broad.mit.edu	37	12	91365647	91365647	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:91365647G>T	ENST00000261172.3	-	5	724	c.632C>A	c.(631-633)aCc>aAc	p.T211N		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	211					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.T211K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGTCAAAGTGGTTGGCAATTC	0.368000													23	38					1.17739e-12	1.33529e-12	0.693898	1	0
SCN2A	6326	broad.mit.edu	37	2	166211143	166211143	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211143G>A	ENST00000357398.3	+	17	3651	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1121K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1121K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E1121K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1121					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1121K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAATACTGAAGAATTCAGCAG	0.323000													26	151					0	0	0.706142	0	0
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:22248914G>T	ENST00000324559.8	+	7	747	c.430G>T	c.(430-432)Gct>Tct	p.A144S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	144						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.A144S(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTACCTATGCTGAAGTCTT	0.433000													128	263					3.36081e-69	4.55265e-69	0.870114	1	0
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103547C>T	ENST00000408890.4	+	1	199	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	61								p.S61S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACTCAGAGCCATATTCAGT	0.701000													7	33					0	0	0.248553	0	0
COL4A6	1288	broad.mit.edu	37	X	107554023	107554023	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107554023C>A	ENST00000394872.2	-	3	330	c.99G>T	c.(97-99)caG>caT	p.Q33H	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000372216.4_Missense_Mutation_p.Q34H|COL4A6_ENST00000334504.7_Missense_Mutation_p.Q33H|COL4A6_ENST00000538570.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000545689.1_Missense_Mutation_p.Q33H			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	34	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACTGCAGTCCTGGCCCCCAC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				116	291					4.00201e-40	5.19055e-40	0.870114	1	0
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582654G>T	ENST00000328275.1	+	1	712	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A238S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAAAAGGCCCTGGCCAC	0.572000													58	159					2.40265e-35	3.078e-35	0.870114	1	0
CNIH3	149111	broad.mit.edu	37	1	224872505	224872505	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224872505G>C	ENST00000272133.3	+	3	1040	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	53					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.R53P(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TAGAGGGAACGGTTGAGGAAC	0.542000													46	287					0	0	0.870114	0	0
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	C	A	rs139579223	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:29786167C>A	ENST00000256062.5	-	6	1190	c.717G>T	c.(715-717)gaG>gaT	p.E239D	TMTC1_ENST00000551659.1_Missense_Mutation_p.E409D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E409D|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.E301D|TMTC1_ENST00000539277.1_Missense_Mutation_p.E347D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	347						integral to membrane	binding	p.E239D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCCATATGGTCTCTACCAGAG	0.507000													74	191					1.74474e-33	2.21384e-33	0.870114	1	0
ZNF548	147694	broad.mit.edu	37	19	57910783	57910783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57910783C>G	ENST00000366197.5	+	3	1378	c.1128C>G	c.(1126-1128)taC>taG	p.Y376*	ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Y388*|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y388*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTAGGTACAACTCCAGCC	0.403000													88	434					0	0	0.870114	0	0
MRPS30	10884	broad.mit.edu	37	5	44811251	44811251	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:44811251G>T	ENST00000507110.1	+	2	780	c.742G>T	c.(742-744)Gca>Tca	p.A248S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	248					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.A248S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CAAGCAACTCGCAGAGGTAAG	0.368000													14	81					3.41278e-10	3.79112e-10	0.520397	1	0
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33328826G>A	ENST00000374796.2	-	12	7804	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1745F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S1745F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAAGGAGGGGAAGGAAGCTG	0.542000													26	71					0	0	0.706142	0	0
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113286318A>T	ENST00000233336.5	+	7	1271	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P360P(2)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGTCTTCCCACCCCCAGATG	0.512000			T	ETV6	ALL								111	208					0	0	0.870114	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140501728G>C	ENST00000194152.1	+	1	148	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542000													5	54					0	0	0.184627	0	0
NDST4	64579	broad.mit.edu	37	4	115750957	115750957	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:115750957T>C	ENST00000264363.2	-	13	3166	c.2488A>G	c.(2488-2490)Atg>Gtg	p.M830V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	830	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.M830V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTGGATCCATAGGTGGATAT	0.343000													25	43					0	0	0.706142	0	0
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3328985G>T	ENST00000378398.3	+	10	2309	c.2227G>T	c.(2227-2229)Gac>Tac	p.D743Y	PRDM16_ENST00000514189.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D742Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	742	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D742Y(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCACGGACCGAGCCCT	0.647000			T	EVI1	"""MDS, AML"""								9	7					3.07112e-06	3.24173e-06	0.387290	1	0
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143995833A>G	ENST00000323110.2	-	5	803	c.799_splice	c.e5-1	p.G267_splice		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	267					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.G267G(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACAGTTGTCACCTGTCCAGG	0.577000									Familial Hyperaldosteronism type I				18	22					0	0	0.575678	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213203	28213203	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28213203C>T	ENST00000377294.2	-	5	1572	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	ZKSCAN4_ENST00000423974.2_Silent_p.R288R	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	443					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R443R(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GATGTGAATTCCGCCTAAAGG	0.493000													12	141					0	0	0.411799	0	0
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:112031646T>G	ENST00000369716.4	-	3	591	c.457_splice	c.e3-1	p.D153_splice	ADORA3_ENST00000369717.4_Splice_Site_p.D72_splice	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	278					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.D72A(2)|p.D153A(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACCATGGCATCTGTGAAAac	0.463000													14	139					0	0	0.500413	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:156482498A>G	ENST00000339252.3	-	2	625	c.93T>C	c.(91-93)tcT>tcC	p.S31S	HAVCR1_ENST00000522693.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S|HAVCR1_ENST00000523175.1_Silent_p.S31S|HAVCR1_ENST00000544197.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	31	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468000													14	34					0	0	0.575678	0	0
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:14766512G>C	ENST00000438167.3	-	4	889	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	150					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	p.L150L(1)									GGGGGTAGAAGAGGTACTTTA	0.478000													121	567					0	0	0.870114	0	0
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248813783G>C	ENST00000344889.3	-	1	402	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135V(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCTCATGAGGACAGGATAG	0.552000													67	56					0	0	0.870114	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264475	61264475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61264475G>A	ENST00000344731.5	+	8	1156	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G300S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	352					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.G352S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACCGGCATAGGCTTTACTGT	0.522000													31	111					0	0	0.769981	0	0
TLK1	9874	broad.mit.edu	37	2	171911655	171911655	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171911655C>T	ENST00000442919.2	-	7	1048	c.433G>A	c.(433-435)Gca>Aca	p.A145T	TLK1_ENST00000521943.1_Missense_Mutation_p.A145T|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Missense_Mutation_p.A97T|TLK1_ENST00000360843.3_Missense_Mutation_p.A214T|TLK1_ENST00000431350.2_Missense_Mutation_p.A193T	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	193					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A145T(1)|p.A193T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AATGCTAATGCAGTAGGAGAA	0.274000													24	138					0	0	0.796494	0	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							binding|oxidoreductase activity	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000													39	106					0	0	0.840704	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367374	3367374	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3367374G>C	ENST00000574298.1	+	6	869	c.396G>C	c.(394-396)aaG>aaC	p.K132N	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K132N(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCCAGTGAAGAAAAGAAAGA	0.383000													7	46					0	0	0.278610	0	0
ZNF607	84775	broad.mit.edu	37	19	38190715	38190715	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38190715C>T	ENST00000355202.4	-	5	912	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF607_ENST00000395835.3_Missense_Mutation_p.R105K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R106K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R106K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTATGAATTCTCTGATGGAG	0.348000													20	135					0	0	0.592651	0	0
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:51261234G>T	ENST00000395542.2	-	3	482	c.298C>A	c.(298-300)Cca>Aca	p.P100T	COBL_ENST00000395540.2_Missense_Mutation_p.P100T|COBL_ENST00000265136.7_Missense_Mutation_p.P100T|COBL_ENST00000441453.1_Missense_Mutation_p.P100T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGGGATGGATTCAGGTGG	0.423000													41	103					2.59344e-38	3.34291e-38	0.870114	1	0
ACOX3	8310	broad.mit.edu	37	4	8418229	8418229	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:8418229C>T	ENST00000356406.5	-	2	97	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G7E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G7E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	7					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G7E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGTGTCGCCTCCTTCCACAGT	0.572000													10	24					0	0	0.361761	0	0
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53045355G>A	ENST00000309680.3	-	1	593	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.S191F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCAATGAAGGAGGCAAATTT	0.483000													15	167					0	0	0.557998	0	0
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50368512G>C	ENST00000322344.3	-	4	479	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	PNKP_ENST00000600910.1_Missense_Mutation_p.L124V|PNKP_ENST00000596014.1_Missense_Mutation_p.L124V|PNKP_ENST00000600573.1_Missense_Mutation_p.L124V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572000								Other BER factors					6	19					0	0	0.248553	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27809297	27809297	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27809297G>A	ENST00000396319.2	+	5	544	c.456G>A	c.(454-456)ttG>ttA	p.L152L	TAX1BP1_ENST00000265393.6_Silent_p.L152L|TAX1BP1_ENST00000543117.1_Silent_p.L152L|TAX1BP1_ENST00000409980.1_Silent_p.L152L|TAX1BP1_ENST00000433216.2_5'UTR	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	152					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.L152L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAGTTGAAAATTGAGA	0.284000													5	22					0	0	0.217242	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735197	55735197	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55735197A>T	ENST00000312345.2	-	1	793	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I248N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAAATAAGTGATAGTACCTGC	0.373000													11	73					0	0	0.435327	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:185801543G>C	ENST00000302277.6	+	4	2014	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474						intracellular	zinc ion binding	p.D474H(2)|p.D474N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAATAATCTAGATAAAAATAA	0.343000													121	95					0	0	0.870114	0	0
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000218758.5_Missense_Mutation_p.S118F|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572000													24	76					0	0	0.717897	0	0
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77765894C>A	ENST00000407578.2	-	28	4256	c.3990G>T	c.(3988-3990)tgG>tgT	p.W1330C	MYCBP2_ENST00000544440.2_Missense_Mutation_p.W1292C|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W1292C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.W1292C(4)|p.W1330C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCCACATACCACCACCCAG	0.438000													51	101					3.91957e-13	4.47645e-13	0.870114	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94936017C>A	ENST00000337425.5	-	2	289	c.215G>T	c.(214-216)cGc>cTc	p.R72L	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R54L|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72L|SERPINA9_ENST00000448305.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	54					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.R72L(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGGTATAGGCGGAAGGCAAA	0.607000													70	329					2.51111e-31	3.16157e-31	0.870114	1	0
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160164856G>C	ENST00000368079.3	+	4	777	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.E174Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	174						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.E168Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCGTTTGAGAATATTGA	0.493000													142	109					0	0	0.870114	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262101	36262101	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:36262101G>A	ENST00000394571.2	+	4	639	c.639G>A	c.(637-639)atG>atA	p.M213I	PNPLA1_ENST00000312917.5_Missense_Mutation_p.M127I|PNPLA1_ENST00000388715.3_Missense_Mutation_p.M118I	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	213					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTCCGCATGTTCAACTGCT	0.622000													5	141					0	0	0.217242	0	0
ZNF341	84905	broad.mit.edu	37	20	32354772	32354772	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32354772G>A	ENST00000375200.1	+	9	1703	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	ZNF341_ENST00000342427.2_Silent_p.L439L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L439L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCCTACCTGTGCCAATTCT	0.597000													44	367					0	0	0.870114	0	0
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65417286G>T	ENST00000394224.3	+	12	2992	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	SIPA1_ENST00000527525.1_Missense_Mutation_p.R797M|SIPA1_ENST00000394227.3_Missense_Mutation_p.R797M|SIPA1_ENST00000534313.1_Missense_Mutation_p.R899M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	899					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R899M(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCGGAGCTGAGGGCCTCCTTT	0.627000													4	16					0.014758	0.0149109	0.184627	1	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247836167G>T	ENST00000359688.2	-	1	198	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													77	105					2.60632e-51	3.46955e-51	0.870114	1	0
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26545530A>G	ENST00000377575.2	+	2	273	c.96A>G	c.(94-96)ccA>ccG	p.P32P		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding	p.P32P(2)		lung(2)|skin(1)	3						CTGCTAAACCAGCTCCTCCAA	0.502000													28	33					0	0	0.729181	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42335826G>C	ENST00000262418.6	-	10	1197	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	348					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q348E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCTGGACTGATAGCGCCTT	0.637000													20	145					0	0	0.693898	0	0
ATP1A2	477	broad.mit.edu	37	1	160098582	160098582	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160098582C>A	ENST00000361216.3	+	9	1247	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	ATP1A2_ENST00000392233.3_Silent_p.V386V|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	386					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.V386V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGACCGTCGCCCACATGT	0.597000													36	288					9.14704e-12	1.03257e-11	0.840704	1	0
XAGE5	170627	broad.mit.edu	37	X	52842250	52842250	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:52842250G>T	ENST00000375503.3	+	2	522	c.159G>T	c.(157-159)caG>caT	p.Q53H	XAGE5_ENST00000375501.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000351072.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000425386.1_Missense_Mutation_p.Q53H			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	53								p.Q53H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AAGATGATCAGGGTGCAGCTG	0.532000													21	68					9.57634e-11	1.0703e-10	0.654019	1	0
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58087249C>A	ENST00000196489.3	-	3	347	c.125G>T	c.(124-126)tGg>tTg	p.W42L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W42L(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGCCCCCATTCTTCCTG	0.537000													140	208					1.324e-77	1.81029e-77	0.870114	1	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													189	586					0	0	0.870114	0	0
RGS9	8787	broad.mit.edu	37	17	63189700	63189700	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:63189700C>T	ENST00000449996.3	+	12	849	c.777C>T	c.(775-777)gcC>gcT	p.A259A	RGS9_ENST00000443584.3_Silent_p.A259A|RGS9_ENST00000262406.9_Silent_p.A262A	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	262	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.A262A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAACGATGCCATCATGTCAG	0.423000													48	223					0	0	0.870114	0	0
ADAM10	102	broad.mit.edu	37	15	58957351	58957351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:58957351G>C	ENST00000260408.3	-	5	973	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	177					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.S177*(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCAAATACTGAATGATCTGC	0.368000													52	242					0	0	0.870114	0	0
DSEL	92126	broad.mit.edu	37	18	65180123	65180123	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:65180123G>A	ENST00000310045.7	-	2	3226	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	575						integral to membrane	isomerase activity|sulfotransferase activity	p.L585F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAATTTAAGAGAAGCAAAGCA	0.403000													10	52					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762558	77762558	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77762558A>C	ENST00000521891.2	+	9	4372	c.3924A>C	c.(3922-3924)acA>acC	p.T1308T	ZFHX4_ENST00000518282.1_Silent_p.T1282T|ZFHX4_ENST00000455469.2_Silent_p.T1263T|ZFHX4_ENST00000050961.6_Silent_p.T1263T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1308T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGGGACACACCTGCAGCCG	0.493000										HNSCC(33;0.089)			10	92					0	0	0.667858	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:34033349G>C	ENST00000373381.4	-	53	8400	c.8224C>G	c.(8224-8226)Cct>Gct	p.P2742A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537000													29	158					0	0	0.740014	0	0
BUB1	699	broad.mit.edu	37	2	111425235	111425235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111425235G>C	ENST00000535254.1	-	7	675	c.608C>G	c.(607-609)tCa>tGa	p.S203*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.S223*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.S223*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	223					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.S223*(1)|p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCCAAAGATGAGTGCACAGA	0.378000													18	90					0	0	0.624587	0	0
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000438568.2_Missense_Mutation_p.R157K|TARS2_ENST00000369054.2_Missense_Mutation_p.E199K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532000													12	78					0	0	0.457914	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22843099G>C	ENST00000360412.2	-	4	1400	c.625C>G	c.(625-627)Cat>Gat	p.H209D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.H209D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H209D(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTCATTGTATGAAAGGTATCT	0.393000													101	492					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189839268	189839268	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:189839268C>A	ENST00000304636.3	+	1	223	c.53C>A	c.(52-54)cCc>cAc	p.P18H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P18H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	18					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P18H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTTCATCCCACTATTATT	0.408000													41	304					2.48909e-17	2.9179e-17	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77768223C>T	ENST00000521891.2	+	10	9514	c.9066C>T	c.(9064-9066)atC>atT	p.I3022I	ZFHX4_ENST00000518282.1_Silent_p.I2996I|ZFHX4_ENST00000455469.2_Silent_p.I2977I|ZFHX4_ENST00000050961.6_Silent_p.I2977I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2977						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I3006I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGTCCATCAGAGATCACA	0.507000										HNSCC(33;0.089)			34	77					0	0	0.804634	0	0
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:52869406C>T	ENST00000343457.3	-	2	655	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217						integral to membrane		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTGAGGTCCTTGAAGGCT	0.343000													30	49					0	0	0.729181	0	0
CFLAR	8837	broad.mit.edu	37	2	201994633	201994633	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:201994633A>C	ENST00000395148.2	+	2	257	c.45A>C	c.(43-45)acA>acC	p.T15T	CFLAR_ENST00000355558.4_Silent_p.T15T|CFLAR_ENST00000342795.5_Silent_p.T15T|CFLAR_ENST00000340870.5_Silent_p.T15T|CFLAR_ENST00000423241.2_Silent_p.T15T|CFLAR_ENST00000341582.6_Silent_p.T15T|CFLAR_ENST00000457277.1_Silent_p.T15T|CFLAR_ENST00000341222.6_Silent_p.T15T|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000440180.1_Silent_p.T15T|CFLAR_ENST00000309955.2_Silent_p.T15T			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	15	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.T15T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CACTTGATACAGATGAGAAGG	0.478000													55	462					0	0	0.870114	0	0
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150935522C>G	ENST00000271640.5	+	19	3554	c.3364C>G	c.(3364-3366)Cag>Gag	p.Q1122E	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1122E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1122	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q1122E(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTGCTGGTCAGACTTCGGC	0.532000													66	86					0	0	0.870114	0	0
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69640530A>G	ENST00000370598.1	+	4	1658	c.837A>G	c.(835-837)caA>caG	p.Q279Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q279Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAGGAACAAGCTGATGCTG	0.333000													11	77					0	0	0.479597	0	0
DZANK1	55184	broad.mit.edu	37	20	18445979	18445979	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:18445979G>C	ENST00000262547.5	-	2	232	c.24C>G	c.(22-24)gtC>gtG	p.V8V	DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Silent_p.V8V|DZANK1_ENST00000377630.5_5'UTR	NM_001099407.1	NP_001092877.1	Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	0						intracellular	zinc ion binding	p.V8V(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TGATCTGAGGGACACACACTG	0.373000													5	36					0	0	0.248553	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105419147G>T	ENST00000333244.5	-	7	2760	c.2641C>A	c.(2641-2643)Ctc>Atc	p.L881I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus		p.L881I(2)		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)			TGAATGCTGAGGTCAGTGGCC	0.652000													13	49					1.15088e-07	1.23713e-07	0.500413	1	0
CCDC135	84229	broad.mit.edu	37	16	57732052	57732052	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:57732052C>G	ENST00000360716.3	+	3	412	c.191C>G	c.(190-192)tCa>tGa	p.S64*	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Nonsense_Mutation_p.S64*|CCDC135_ENST00000336825.8_Nonsense_Mutation_p.S64*			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	64						cytoplasm		p.S64*(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATCACTGTCTCAGCGGAGCTC	0.607000													5	27					0	0	0.278610	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334739	142334739	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142334739C>T	ENST00000390394.3	+	0	239																											CGTCAGTTCCCGAAACAGAGT	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	122					0	0	0.870114	0	0
HDAC9	9734	broad.mit.edu	37	7	18631183	18631183	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:18631183C>T	ENST00000406451.3	+	5	601	c.451C>T	c.(451-453)Cta>Tta	p.L151L	HDAC9_ENST00000428307.2_Silent_p.L151L|HDAC9_ENST00000417496.2_Silent_p.L193L|HDAC9_ENST00000441542.2_Silent_p.L154L|HDAC9_ENST00000456174.2_Silent_p.L123L|HDAC9_ENST00000405010.3_Silent_p.L151L|HDAC9_ENST00000401921.1_Silent_p.L154L|HDAC9_ENST00000524023.1_Silent_p.L120L|HDAC9_ENST00000406072.1_Silent_p.L182L|HDAC9_ENST00000432645.2_Silent_p.L151L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	151	Interaction with MEF2 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.L154L(2)|p.L193L(1)|p.L151L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCAAGAGTTCCTACTGAGTAA	0.453000													4	55					0	0	0.150653	0	0
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18316688C>T	ENST00000396253.3	-	13	1783	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HPS5_ENST00000438420.2_Missense_Mutation_p.E441K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E555K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	555						cytosol		p.E555K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAATCTTCTCAGTAGTTTTA	0.398000									Hermansky-Pudlak syndrome				13	95					0	0	0.457914	0	0
KAT6A	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:41834584C>T	ENST00000396930.3	-	8	1848	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KAT6A_ENST00000406337.1_Silent_p.E435E|KAT6A_ENST00000265713.2_Silent_p.E435E|KAT6A_ENST00000485568.1_Silent_p.E435E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	435	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.E435E(2)									TTCGATATTGCTCAGAGTAGT	0.448000													52	114					0	0	0.870114	0	0
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:113719264C>T	ENST00000397030.1	+	7	757	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000375608.3_Silent_p.F237F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000375604.2_Silent_p.F264F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577000													24	59					0	0	0.717897	0	0
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:26917884C>G	ENST00000539517.2	-	5	1122	c.805G>C	c.(805-807)Gga>Cga	p.G269R	NOVA1_ENST00000465357.2_Missense_Mutation_p.G245R|NOVA1_ENST00000267422.7_Missense_Mutation_p.G147R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G269R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAAGGAGATCCGGTTGGATTG	0.483000													41	171					0	0	0.859065	0	0
FCRL5	83416	broad.mit.edu	37	1	157491004	157491004	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157491004C>T	ENST00000361835.3	-	11	2475	c.2318G>A	c.(2317-2319)tGt>tAt	p.C773Y	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.C773Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	773	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.C773Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGGCCTCACAGTGAAGCTC	0.582000													15	77					0	0	0.500413	0	0
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249144947C>A	ENST00000451251.1	-	11	1547	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	ZNF692_ENST00000306601.4_Missense_Mutation_p.R396L|ZNF692_ENST00000366469.5_Missense_Mutation_p.R395L|ZNF692_ENST00000366471.3_Missense_Mutation_p.R351L|ZNF692_ENST00000427146.1_Missense_Mutation_p.R351L	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	396				S -> G (in Ref. 1; BAA91239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R396L(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGAAAGACCGGGCGCAGAA	0.622000													13	78					2.37509e-13	2.71466e-13	0.592651	1	0
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72734212C>T	ENST00000333149.2	-	3	629	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TRIM50_ENST00000453152.1_Silent_p.L143L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	143						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	p.L143L(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTCCTGCTTCAGCTCAGAGA	0.597000													24	151					0	0	0.706142	0	0
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47882444G>T	ENST00000335071.2	+	1	701	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721000													4	32					8.12818e-05	8.44569e-05	0.248553	1	0
DUSP22	56940	broad.mit.edu	37	6	348851	348851	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:348851A>T	ENST00000604971.1	+	4	1322	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.K70M|DUSP22_ENST00000419235.2_Missense_Mutation_p.K173M|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.K70M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTAAATATAAGGAGCAAGGG	0.537000													7	48					0	0	0.307466	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:96706570C>G	ENST00000389672.5	+	3	885	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	EPHA6_ENST00000542517.1_Missense_Mutation_p.Q189E|EPHA6_ENST00000470610.2_Missense_Mutation_p.Q283E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000													476	427					0	0	0.870114	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:32103262C>A	ENST00000375250.5	-	12	1910	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E582*|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E587*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E535*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E587*(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTATCTCCTCTTCAATTCCT	0.363000													83	301					3.86339e-31	4.85163e-31	0.870114	1	0
RRBP1	6238	broad.mit.edu	37	20	17600972	17600972	+	Missense_Mutation	SNP	A	A	C	rs144392530	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:17600972A>C	ENST00000377813.1	-	18	3854	c.3551T>G	c.(3550-3552)cTa>cGa	p.L1184R	RRBP1_ENST00000246043.4_Missense_Mutation_p.L1184R|RRBP1_ENST00000377807.2_Missense_Mutation_p.L751R|RRBP1_ENST00000455029.2_Missense_Mutation_p.L525R|RRBP1_ENST00000360807.4_Missense_Mutation_p.L751R			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1184					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.L751R(1)|p.L1184R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTCTCCTTTTAGCTTCTCTAC	0.517000													6	89					0	0	0.278610	0	0
CXCL12	6387	broad.mit.edu	37	10	44873293	44873293	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:44873293G>C	ENST00000395794.2	-	4	370	c.327C>G	c.(325-327)ccC>ccG	p.P109P	CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P109P(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TGGGAGGAGAGGGATGCAGGG	0.602000													3	14					0	0	0.115264	0	0
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:103870845C>A	ENST00000361198.5	-	4	745	c.122G>T	c.(121-123)cGg>cTg	p.R41L	LDB1_ENST00000425280.1_Missense_Mutation_p.R77L|LDB1_ENST00000490751.1_5'UTR	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R77L(2)|p.R41L(2)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTCTGAAGCCGTTTGTTAAG	0.532000													18	82					0.000958276	0.000986599	0.557998	1	0
LOC440040	440040	broad.mit.edu	37	11	49830147	49830147	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:49830147G>T	ENST00000527477.1	+	0	1478																											TCAGTGCAGGGCCCATCACTG	0.483000													4	27					1.024e-07	1.1048e-07	0.184627	1	0
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30918542G>T	ENST00000375318.2	-	1	149	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31G(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GATTCCTGGTGCCTGCCGCAG	0.517000													44	95					3.21987e-24	3.90927e-24	0.870114	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858701	149858701	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149858701G>C	ENST00000331380.2	+	1	177	c.177G>C	c.(175-177)ctG>ctC	p.L59L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	59					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGAGTACCTGACCGCCGAGA	0.687000													9	61					0	0	0.500413	0	0
COL24A1	255631	broad.mit.edu	37	1	86554869	86554869	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86554869C>A	ENST00000370571.2	-	7	2061	c.1695G>T	c.(1693-1695)atG>atT	p.M565I	COL24A1_ENST00000436319.1_Missense_Mutation_p.M565I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	565	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.M565_Q566>IK(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATCACCTTGCATACCAGGGG	0.333000													19	109					3.08376e-08	3.34188e-08	0.654019	1	0
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14563219G>C	ENST00000181796.2	-	5	1124	c.891C>G	c.(889-891)ggC>ggG	p.G297G	FAM107B_ENST00000479731.1_Silent_p.G122G|FAM107B_ENST00000378470.1_Silent_p.G122G|FAM107B_ENST00000496330.1_Silent_p.G122G|FAM107B_ENST00000468747.1_Silent_p.G122G|FAM107B_ENST00000378458.2_Silent_p.G122G|FAM107B_ENST00000378462.1_Silent_p.G122G|FAM107B_ENST00000478076.1_Silent_p.G122G|FAM107B_ENST00000378465.3_Silent_p.G122G|FAM107B_ENST00000378467.4_Silent_p.G122G	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	122								p.G297G(2)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGACTTCTTGGCCTGTTCTCC	0.517000													117	230					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358000													134	650					0	0	0.870114	0	0
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:108307757C>T	ENST00000370056.4	-	9	1136	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	VAV3_ENST00000371846.4_Missense_Mutation_p.A223T|VAV3_ENST00000527011.1_Missense_Mutation_p.A288T|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	288	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A288T(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTAGAGATGGCTGACTCCACT	0.358000													35	108					0	0	0.864702	0	0
SIRT1	23411	broad.mit.edu	37	10	69651262	69651262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:69651262G>C	ENST00000212015.6	+	4	945	c.892G>C	c.(892-894)Gat>Cat	p.D298H	SIRT1_ENST00000432464.1_Missense_Mutation_p.D3H|SIRT1_ENST00000406900.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	298	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	p.D298H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCGATGTTTGATATTGAATA	0.403000													44	242					0	0	0.870114	0	0
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51392312G>A	ENST00000266037.9	+	41	4130		c.e41-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.?(4)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTTGTGGCAGAACAAAGAAT	0.527000													64	256					0	0	0.870114	0	0
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:244716037G>A	ENST00000366534.4	+	9	1004	c.950G>A	c.(949-951)gGa>gAa	p.G317E	C1orf101_ENST00000366533.4_Missense_Mutation_p.G317E|C1orf101_ENST00000366531.3_Missense_Mutation_p.G166E|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	317						integral to membrane		p.G317E(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATAAGACTGGGAGGAATTGTA	0.343000													272	405					0	0	0.870114	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152059275T>C	ENST00000368806.1	-	3	947	c.883A>G	c.(883-885)Aga>Gga	p.R295G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding	p.R295G(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCTTCTCTTTGTAGGGGT	0.443000													334	280					0	0	0.870114	0	0
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55993190C>T	ENST00000598519.1	+	3	1183	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF628_ENST00000391718.2_Silent_p.P206P	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	206						nucleus	DNA binding|zinc ion binding	p.P206P(4)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGCTCTGCCCCAAGACCTTCA	0.741000													5	2					0	0	0.217242	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:52017224A>G	ENST00000267838.3	-	2	882	c.368T>C	c.(367-369)tTg>tCg	p.L123S	LYSMD2_ENST00000560491.1_Missense_Mutation_p.L32S|LYSMD2_ENST00000558126.1_Intron|LYSMD2_ENST00000454181.2_Missense_Mutation_p.L32S	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	123					cell wall macromolecule catabolic process			p.L123S(2)		lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		ATTAAACAACAAAGGCTTCTC	0.383000													35	68					0	0	0.847076	0	0
ERCC6	2074	broad.mit.edu	37	10	50679084	50679084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:50679084C>G	ENST00000355832.5	-	17	3085	c.3007G>C	c.(3007-3009)Gag>Cag	p.E1003Q	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.E373Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1003					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.E1003Q(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTAAATAGCTCATAGAGATCA	0.313000								Direct reversal of damage;Nucleotide excision repair (NER)					40	246					0	0	0.847076	0	0
VPS13B	157680	broad.mit.edu	37	8	100514053	100514053	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:100514053C>T	ENST00000395996.1	+	26	4120	c.4009C>T	c.(4009-4011)Ctc>Ttc	p.L1337F	VPS13B_ENST00000358544.2_Missense_Mutation_p.L1337F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1337F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1337					protein transport			p.L1337F(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTATAAAGCTCTTTGCTCC	0.473000													32	255					0	0	0.796494	0	0
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:21760782T>C	ENST00000382254.1	-	13	2604	c.1518A>G	c.(1516-1518)atA>atG	p.I506M	CDH12_ENST00000522262.1_Missense_Mutation_p.I466M|CDH12_ENST00000504376.2_Missense_Mutation_p.I506M|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I506M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTATCTGAATTATCTGCAACA	0.403000										HNSCC(59;0.17)			64	254					0	0	0.870114	0	0
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:89131063T>A	ENST00000286614.6	-	5	1018	c.737A>T	c.(736-738)cAt>cTt	p.H246L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	246					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H246L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCCAGTTCATGGACTGCTAC	0.383000													79	89					0	0	0.870114	0	0
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:4116637G>C	ENST00000404826.2	+	21	3157	c.3018G>C	c.(3016-3018)caG>caC	p.Q1006H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1006H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1006	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGCTATCAGATCTCTTGGG	0.542000													6	55					0	0	0.278610	0	0
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198953721C>T	ENST00000428675.1	+	3	3253	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P854L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	952					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P854L(2)|p.P952L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAGCTTTCCTTACCTGGAG	0.453000													398	473					0	0	0.870114	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000													38	217					0	0	0.819951	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117954	34117954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:34117954C>A	ENST00000331923.4	-	12	2188	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.E667*	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.E667*(1)									TCATCTTTTTCTTGCTCTCGT	0.378000													74	268					6.20368e-34	7.90591e-34	0.870114	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46032130G>T	ENST00000334662.2	+	1	135	c.113G>T	c.(112-114)gGc>gTc	p.G38V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.G38V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTGCACTGGCTCCTCCTGG	0.637000													34	49					3.38236e-24	4.10314e-24	0.827153	1	0
GJB4	127534	broad.mit.edu	37	1	35227416	35227416	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:35227416C>G	ENST00000339480.1	+	2	931	c.561C>G	c.(559-561)acC>acG	p.T187T	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	187					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.T187T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGTCTTCACCTACTTCATGG	0.587000													8	131					0	0	0.278610	0	0
TCL6	27004	broad.mit.edu	37	14	96135898	96135898	+	RNA	SNP	A	A	T	rs76461999		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96135898A>T	ENST00000467865.1	+	0	1832				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttagaagcaaggcacaagtc	0.512000			T	TRA@	T-ALL								12	111					0	0	0.479597	0	0
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11485703T>A	ENST00000423059.3	-	13	3300	c.3049A>T	c.(3049-3051)Aga>Tga	p.R1017*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10.					integral to membrane		p.R1017*(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTTACATCTAGATGTTTCC	0.428000										HNSCC(18;0.044)			299	624					0	0	0.870114	0	0
OR5I1	10798	broad.mit.edu	37	11	55703085	55703085	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55703085G>A	ENST00000301532.3	-	1	791	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAGGTAGCTGGGCCGTGAGT	0.423000													10	68					0	0	0.387290	0	0
YPEL2	388403	broad.mit.edu	37	17	57430790	57430790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57430790C>G	ENST00000312655.4	+	2	338	c.20C>G	c.(19-21)tCg>tGg	p.S7W	YPEL2_ENST00000585166.1_Missense_Mutation_p.S7W|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	7						nucleolus		p.S7W(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGACAAGATCGAAGACTTTC	0.547000													48	259					0	0	0.870114	0	0
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:14131775A>T	ENST00000379153.3	+	3	349	c.178A>T	c.(178-180)Atg>Ttg	p.M60L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	60	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane		p.M60L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGAAGAGAGGATGGAGACACC	0.507000													32	39					0	0	0.819951	0	0
FRAS1	80144	broad.mit.edu	37	4	79399136	79399136	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:79399136A>C	ENST00000264895.6	+	55	8459	c.8019A>C	c.(8017-8019)gaA>gaC	p.E2673D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2668	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.E2674D(1)|p.E2673D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGAGGATGAACCCACATTAG	0.458000													12	50					0	0	0.457914	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:39086866C>A	ENST00000400482.3	-	3	1183	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.K198N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	198					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.K198N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCTGCCCTCTTCTTGGGTT	0.483000													13	35					9.16793e-09	1.00244e-08	0.520397	1	0
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125315507G>C	ENST00000373688.2	+	1	117	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AAACCAGGCAGAGTGAACCAA	0.448000													58	213					0	0	0.870114	0	0
LTN1	26046	broad.mit.edu	37	21	30304987	30304987	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:30304987C>A	ENST00000361371.4	-	28	5026		c.e28-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGCTTTAACCTGCAATACAA	0.343000													45	185					4.88482e-21	5.8482e-21	0.870114	1	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)			79	547					0	0	0.870114	0	0
EVPLL	645027	broad.mit.edu	37	17	18284947	18284947	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:18284947G>A	ENST00000399134.4	+	4	607	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	83								p.Q83Q(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGTGACCCAGGAGTGTGCGG	0.657000													6	6					0	0	0.217242	0	0
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:75902715C>A	ENST00000322563.3	-	4	907	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	261					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.K261N(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TATCCAGGTCCTTGGGCACCA	0.597000													14	29					4.14922e-12	4.69474e-12	0.500413	1	0
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:31016158C>A	ENST00000375687.4	+	6	828	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.S130Y|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	135					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S135Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGAACGCATCCTGTTCTACA	0.493000			"""F, N, Mis"""		"""MDS, CMML"""								36	411					1.17962e-10	1.31739e-10	0.840704	1	0
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3685153G>T	ENST00000403096.3	+	3	646	c.155G>T	c.(154-156)aGt>aTt	p.S52I	COLEC11_ENST00000349077.4_Missense_Mutation_p.S78I|COLEC11_ENST00000236693.7_Missense_Mutation_p.S75I|COLEC11_ENST00000418971.2_Missense_Mutation_p.S92I|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000402794.1_Missense_Mutation_p.S28I|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Intron	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	78						collagen	mannose binding	p.S92I(2)|p.S75I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGAAAGGCAGTGTGGGTCGT	0.512000													33	45					4.32679e-17	5.05599e-17	0.827153	1	0
ZNF165	7718	broad.mit.edu	37	6	28056879	28056879	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28056879G>A	ENST00000377325.1	+	4	1645	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	363					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q363Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGGCATCAGAGAATCCACA	0.433000													12	70					0	0	0.479597	0	0
ADNP2	22850	broad.mit.edu	37	18	77894747	77894747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:77894747C>G	ENST00000262198.4	+	4	1906	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	484					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S484*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGGTCCAGTCAGGAGTTCTC	0.607000													4	30					0	0	0.184627	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92715222C>A	ENST00000257068.2	+	2	839	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCCATCAACCCCCAAGAAATG	0.512000													73	150					9.31514e-26	1.14233e-25	0.870114	1	0
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155215184T>A	ENST00000460012.1	-	15	2086	c.1729A>T	c.(1729-1731)Atg>Ttg	p.M577L	PLCH1_ENST00000414191.1_Missense_Mutation_p.M577L|PLCH1_ENST00000494598.1_Missense_Mutation_p.M595L|PLCH1_ENST00000340059.7_Missense_Mutation_p.M595L|PLCH1_ENST00000334686.6_Missense_Mutation_p.M577L|PLCH1_ENST00000447496.2_Missense_Mutation_p.M595L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M595L(2)|p.M577L(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGCTTCATGGTTTTCCTT	0.473000													50	148					0	0	0.870114	0	0
NYAP2	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:226273676G>C	ENST00000272907.6	+	2	493	c.80G>C	c.(79-81)gGg>gCg	p.G27A	NYAP2_ENST00000409269.2_Missense_Mutation_p.G27A	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	27								p.G27A(2)									GAGGATATGGGGATGAAGGCC	0.428000													192	256					0	0	0.870114	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52719320G>T	ENST00000322088.6	+	8	1044	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.C150F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C274F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	329	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.C329F(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATCTTGCCCTGCATCAAGGTA	0.532000			Mis		clear cell ovarian carcinoma								20	101					7.87624e-14	9.03052e-14	0.639603	1	0
OSBPL8	114882	broad.mit.edu	37	12	76793690	76793690	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:76793690G>C	ENST00000261183.3	-	7	910	c.431C>G	c.(430-432)aCa>aGa	p.T144R	OSBPL8_ENST00000393249.2_Missense_Mutation_p.T102R|OSBPL8_ENST00000393250.4_Missense_Mutation_p.T102R	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	144					lipid transport		lipid binding	p.T144R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGAAGGATCTGTGATTGTACT	0.343000													11	105					0	0	0.500413	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:127651448C>A	ENST00000373555.4	-	18	2068	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	579						Golgi cisterna membrane		p.E579*(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGAGTGCTTCGGCCTGCAAT	0.657000													110	160					2.35673e-48	3.1231e-48	0.870114	1	0
NELFCD	51497	broad.mit.edu	37	20	57569177	57569177	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57569177A>G	ENST00000602795.1	+	14	1696	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	NELFCD_ENST00000344018.3_Missense_Mutation_p.I541V|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D									p.I541V(1)									GCTGGACGTCATTGCTCCTCC	0.557000													16	139					0	0	0.520397	0	0
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428000													50	252					6.3091e-27	7.76954e-27	0.870114	1	0
SYT4	6860	broad.mit.edu	37	18	40851705	40851705	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:40851705C>A	ENST00000255224.3	-	3	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L296L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.L314L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATTTAGGCAGATGTCGAG	0.428000													56	205					3.40165e-17	3.98448e-17	0.870114	1	0
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62519745G>A	ENST00000394807.3	-	2	1667	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D514D(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGCGGTAGAGGTCCCCTGACT	0.602000													18	44					0	0	0.667858	0	0
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50945490C>A	ENST00000357701.5	+	9	873	c.822C>A	c.(820-822)atC>atA	p.I274I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I274I(2)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAACAAGATCAAGTTGATGG	0.522000													3	14					0.004672	0.00474333	0.115264	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46066935C>A	ENST00000334670.8	+	1	605	c.560C>A	c.(559-561)gCc>gAc	p.A187D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	181	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.A187D(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TACCAGCAGGCCTGCTGCGTG	0.602000													112	200					9.26604e-42	1.21038e-41	0.870114	1	0
FAM71A	149647	broad.mit.edu	37	1	212798989	212798989	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:212798989C>T	ENST00000294829.3	+	1	1201	c.770C>T	c.(769-771)gCa>gTa	p.A257V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	257								p.A257V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCTCAATGCATCCATCCCC	0.552000													46	326					0	0	0.870114	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051794	198051794	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198051794C>G	ENST00000282272.8	-	1	39	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.E22Q	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	22							protein binding	p.E22Q(4)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGATCTCCTCTGGATCACCG	0.443000													112	346					0	0	0.870114	0	0
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:2535350C>T	ENST00000288709.6	-	11	1227	c.987G>A	c.(985-987)gaG>gaA	p.E329E	MMEL1_ENST00000378412.3_Silent_p.E338E|MMEL1_ENST00000502556.1_Silent_p.E181E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.E329E(2)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTGCAGCTCCTCCAGTCCCA	0.662000													3	32					0	0	0.115264	0	0
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124398361G>A	ENST00000360013.3	+	51	7501	c.7374G>A	c.(7372-7374)atG>atA	p.M2458I	KALRN_ENST00000291478.4_Missense_Mutation_p.M761I|KALRN_ENST00000462213.1_Missense_Mutation_p.M75I|KALRN_ENST00000428018.2_Missense_Mutation_p.M729I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2457				E -> G (in Ref. 2; BAA76314).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M761I(1)|p.M2458I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACTAGCATGGAGGTAGAAG	0.428000													78	328					0	0	0.870114	0	0
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:21036154G>A	ENST00000247986.2	-	4	958	c.648C>T	c.(646-648)atC>atT	p.I216I	KIF17_ENST00000375044.1_Silent_p.I116I|KIF17_ENST00000400463.3_Silent_p.I216I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	216	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I216I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCGATGCTGATGGTGAAGA	0.597000													15	46					0	0	0.539581	0	0
DNM3	26052	broad.mit.edu	37	1	172277965	172277965	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:172277965C>G	ENST00000358155.4	+	16	2043	c.1867C>G	c.(1867-1869)Cct>Gct	p.P623A	DNM3_ENST00000520906.1_Missense_Mutation_p.P623A|DNM3_ENST00000355305.5_Missense_Mutation_p.P633A|DNM3_ENST00000367731.1_Missense_Mutation_p.P623A	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	633					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.P623A(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGGGTCTATCCTGACAAATC	0.388000													26	176					0	0	0.706142	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:108609503G>A	ENST00000264047.2	+	4	644	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G18E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G123E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	123					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G123E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAATCTATGGAAAACGCATG	0.448000													22	132					0	0	0.681144	0	0
VAMP7	6845	broad.mit.edu	37	X	155130184	155130184	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:155130184C>A	ENST00000286448.6	+	5	531	c.366C>A	c.(364-366)ggC>ggA	p.G122G	VAMP7_ENST00000460621.1_Silent_p.G81G|VAMP7_ENST00000262640.6_Silent_p.G122G|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	122					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.G122G(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAATAAGGGCCTAGACAAAG	0.368000													7	55					0.000673444	0.000693837	0.361761	1	0
NEB	4703	broad.mit.edu	37	2	152541404	152541404	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:152541404G>C	ENST00000397345.3	-	28	2925	c.2723C>G	c.(2722-2724)tCt>tGt	p.S908C	NEB_ENST00000172853.10_Missense_Mutation_p.S908C|NEB_ENST00000409198.1_Missense_Mutation_p.S908C|NEB_ENST00000604864.1_Missense_Mutation_p.S908C|NEB_ENST00000603639.1_Missense_Mutation_p.S908C|NEB_ENST00000427231.2_Missense_Mutation_p.S908C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	908					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.S908C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATTGCCTGAGATTTCTTAGC	0.428000													27	115					0	0	0.729181	0	0
PLCL2	23228	broad.mit.edu	37	3	17053070	17053070	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:17053070A>T	ENST00000418129.2	+	2	2319	c.1854A>T	c.(1852-1854)acA>acT	p.T618T	PLCL2_ENST00000432376.1_Silent_p.T618T|PLCL2_ENST00000396755.2_Silent_p.T618T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	744	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T618T(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCGCCAATACAAAAGACTCTG	0.507000													19	63					0	0	0.575678	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33947350C>T	ENST00000382102.3	-	6	1343	c.1286G>A	c.(1285-1287)aGc>aAc	p.S429N	SLC45A2_ENST00000296589.4_Missense_Mutation_p.S429N|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S370N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	429					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.S429N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCAAACAGGCTGCACAGGAC	0.507000													89	248					0	0	0.870114	0	0
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:57346020T>A	ENST00000398138.3	-	4	1603	c.747A>T	c.(745-747)tcA>tcT	p.S249S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	249					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.S249S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTTGTTCAGCTGATTTCTTAT	0.468000													25	45					0	0	0.693898	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30784777C>G	ENST00000246229.4	-	3	1233	c.969G>C	c.(967-969)atG>atC	p.M323I		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M323I(2)		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)			GAGGGTAGCTCATACCCATGG	0.567000													56	311					0	0	0.870114	0	0
RIN2	54453	broad.mit.edu	37	20	19955398	19955398	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:19955398C>G	ENST00000255006.6	+	8	1025	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	243					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.L292L(1)|p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCGTCAGCTCTGCCTTATAA	0.552000													4	45					0	0	0.150653	0	0
MTG2	26164	broad.mit.edu	37	20	60775751	60775751	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:60775751C>T	ENST00000370823.3	+	7	857	c.839C>T	c.(838-840)cCc>cTc	p.P280L	MTG2_ENST00000436421.2_Missense_Mutation_p.P122L|MTG2_ENST00000536470.1_Missense_Mutation_p.P52L	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.P280F(1)									GCCGACATCCCCGGCATCATA	0.632000													10	47					0	0	0.624587	0	0
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:33734940G>T	ENST00000358232.6	+	12	1316	c.1253G>T	c.(1252-1254)tGg>tTg	p.W418L	ELP2_ENST00000350494.6_Missense_Mutation_p.W413L|ELP2_ENST00000423854.2_Missense_Mutation_p.W348L|ELP2_ENST00000351393.6_Missense_Mutation_p.W392L|ELP2_ENST00000542824.1_Missense_Mutation_p.W348L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Missense_Mutation_p.W483L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	418					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.W418L(2)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTGCTCCATGGAAGAGAAAA	0.398000													32	87					1.15505e-17	1.36167e-17	0.847076	1	0
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124431933C>T	ENST00000360013.3	+	58	8354	c.8227C>T	c.(8227-8229)Ctc>Ttc	p.L2743F	KALRN_ENST00000291478.4_Missense_Mutation_p.L1046F|KALRN_ENST00000428018.2_Missense_Mutation_p.L1014F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2742	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2743F(2)|p.L1046F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACATCACTCTCCATGACAC	0.488000													36	128					0	0	0.864702	0	0
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42621437C>A	ENST00000389341.5	-	5	334	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000560398.1_Missense_Mutation_p.A112S|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000533720.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529067.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529952.1_Missense_Mutation_p.A90S|POU2F2_ENST00000342301.4_Missense_Mutation_p.A90S|POU2F2_ENST00000526816.2_Missense_Mutation_p.A90S	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	90					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A90S(4)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				ATGAGTTGGGCCTGGGGCAGA	0.642000													37	105					1.30998e-17	1.54308e-17	0.812448	1	0
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184801039G>C	ENST00000335012.2	-	2	699	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	170								p.S170*(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GCTCTCTTTTGAAATTAAGGC	0.463000													85	197					0	0	0.870114	0	0
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53451395T>C	ENST00000314250.6	+	12	1180	c.890T>C	c.(889-891)aTg>aCg	p.M297T	TENC1_ENST00000546602.1_Missense_Mutation_p.M297T|TENC1_ENST00000379902.3_Missense_Mutation_p.M173T|TENC1_ENST00000314276.3_Missense_Mutation_p.M307T|TENC1_ENST00000451358.1_Missense_Mutation_p.M297T|TENC1_ENST00000552570.1_Missense_Mutation_p.M297T|TENC1_ENST00000549700.1_Missense_Mutation_p.M297T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	297					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.M307T(2)|p.M297T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCATCAGAATGAACAGCAGC	0.537000													66	76					0	0	0.870114	0	0
CXCL11	6373	broad.mit.edu	37	4	76955971	76955971	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:76955971T>A	ENST00000306621.3	-	4	471		c.e4-2		CXCL11_ENST00000503860.1_Splice_Site|ART3_ENST00000341029.5_Intron	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11						cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity	p.?(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCAACTTTCTGGAATAAGAA	0.338000													5	10					0	0	0.248553	0	0
ADAM12	8038	broad.mit.edu	37	10	127782626	127782626	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:127782626T>A	ENST00000368679.4	-	11	1391	c.1082A>T	c.(1081-1083)gAc>gTc	p.D361V	ADAM12_ENST00000368676.4_Missense_Mutation_p.D361V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	361	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.D361V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCAGTGTGTCATGATTCAT	0.517000													46	142					0	0	0.870114	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101436271	101436271	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:101436271C>G	ENST00000554693.2	+	0	299				SNORD114-13_ENST00000364377.1_RNA																							CACCATGTTTCTAGAACTCTG	0.423000													19	98					0	0	0.667858	0	0
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:129996686G>A	ENST00000263574.5	+	8	1254	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	APLP2_ENST00000345598.5_Silent_p.K165K|APLP2_ENST00000338167.5_Silent_p.K394K|APLP2_ENST00000539648.1_Silent_p.K182K|APLP2_ENST00000543137.1_Silent_p.K301K|APLP2_ENST00000528499.1_Silent_p.K338K|APLP2_ENST00000278756.7_Silent_p.K404K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.K394K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGAAGGCTAAGGAGCAGCTGG	0.468000													119	340					0	0	0.870114	0	0
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537160C>A	ENST00000394434.2	-	10	1037	c.871G>T	c.(871-873)Gct>Tct	p.A291S	LARS_ENST00000510191.1_Missense_Mutation_p.A237S|LARS_ENST00000274562.9_Missense_Mutation_p.A264S|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.A245S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.A291S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGAGTAGCAGCCACCAAGAAA	0.373000													11	69					1.58986e-06	1.68549e-06	0.361761	1	0
NBEA	26960	broad.mit.edu	37	13	35624523	35624523	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:35624523A>T	ENST00000540320.1	+	6	1497	c.963A>T	c.(961-963)caA>caT	p.Q321H	NBEA_ENST00000379939.2_Missense_Mutation_p.Q321H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q321H|NBEA_ENST00000400445.3_Missense_Mutation_p.Q321H			Q8NFP9	NBEA_HUMAN	neurobeachin	321						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q321H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGATTTTCAACCACGCAAGG	0.353000													22	47					0	0	0.667858	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806813	27806813	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27806813C>T	ENST00000606613.1	+	1	435	c.374C>T	c.(373-375)tCc>tTc	p.S125F	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.S125F			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	125					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S125F(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TACACCAGTTCCAAGTGAGCC	0.637000													4	32					0	0	0.278610	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014929C>G	ENST00000379727.3	-	2	708	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.L170L|CYP1A1_ENST00000395049.4_Silent_p.L170L|CYP1A1_ENST00000395048.2_Silent_p.L170L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	170					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.L170L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGTGCTTATCAGGACCTCAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				12	61					0	0	0.435327	0	0
FBN1	2200	broad.mit.edu	37	15	48712914	48712914	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48712914G>A	ENST00000316623.5	-	63	8244	c.7789C>T	c.(7789-7791)Ctc>Ttc	p.L2597F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2597	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.L2597F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTGCTGGAGGTAGCCCTGG	0.527000													31	166					0	0	0.812448	0	0
RPRD1B	58490	broad.mit.edu	37	20	36694555	36694555	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36694555G>T	ENST00000373433.4	+	6	1130	c.728G>T	c.(727-729)cGc>cTc	p.R243L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	243								p.R243L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATAACGGGCGCCTGGCAGCA	0.448000													43	194					5.73376e-24	6.94411e-24	0.870114	1	0
EIF5B	9669	broad.mit.edu	37	2	99985017	99985017	+	Missense_Mutation	SNP	G	G	C	rs3205291		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:99985017G>C	ENST00000289371.5	+	7	1552	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	450					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		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						AAGATAAAAAGAGGAAAAAAA	0.353000													21	66					0	0	0.681144	0	0
TTN	7273	broad.mit.edu	37	2	179496937	179496937	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179496937C>A	ENST00000589042.1	-	236	43908	c.43684G>T	c.(43684-43686)Gac>Tac	p.D14562Y	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D11994Y|TTN_ENST00000359218.5_Missense_Mutation_p.D5622Y|TTN_ENST00000342175.6_Missense_Mutation_p.D5689Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D12921Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D5497Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12921	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D11994Y(2)|p.D5622Y(1)|p.D5497Y(1)|p.D5689Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGGTGTCATCAATAGAC	0.408000													5	47					0.0293803	0.0295825	0.248553	1	0
TRPC4	7223	broad.mit.edu	37	13	38266380	38266380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266380C>A	ENST00000379705.3	-	4	1847	c.990G>T	c.(988-990)atG>atT	p.M330I	TRPC4_ENST00000379681.3_Missense_Mutation_p.M330I|TRPC4_ENST00000379673.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379679.1_Missense_Mutation_p.M157I|TRPC4_ENST00000358477.2_Missense_Mutation_p.M330I|TRPC4_ENST00000447043.1_Missense_Mutation_p.M330I|TRPC4_ENST00000355779.2_Missense_Mutation_p.M330I|TRPC4_ENST00000426868.2_Missense_Mutation_p.M330I|TRPC4_ENST00000338947.5_Missense_Mutation_p.M157I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	330					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.M330I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACATGTCACCATCTTCACTG	0.478000													23	149					3.83957e-06	4.04704e-06	0.639603	1	0
FPR2	2358	broad.mit.edu	37	19	52272003	52272003	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272003T>A	ENST00000598776.1	+	2	864	c.92T>A	c.(91-93)gTg>gAg	p.V31E	FPR2_ENST00000598953.1_Missense_Mutation_p.V31E|FPR2_ENST00000340023.6_Missense_Mutation_p.V31E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	31					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V31E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCATTGGTGGTGCTTGGG	0.537000													65	261					0	0	0.870114	0	0
TENM1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:123556156G>A	ENST00000422452.2	-	24	4500	c.4437C>T	c.(4435-4437)gaC>gaT	p.D1479D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.D1472D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1474D(2)									CAATTTTGCAGTCACAGTCAG	0.448000													59	153					0	0	0.870114	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219942919C>T	ENST00000356853.5	-	6	731	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Missense_Mutation_p.E200K	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	p.E200K(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTGCATGCCTCTGGCAGTTTC	0.478000								Non-homologous end-joining					102	129					0	0	0.870114	0	0
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:33292344C>G	ENST00000373475.5	+	3	898	c.644C>G	c.(643-645)tCa>tGa	p.S215*	S100PBP_ENST00000373476.1_Nonsense_Mutation_p.S215*|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Nonsense_Mutation_p.S215*	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	215						nucleus	calcium-dependent protein binding	p.S215*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCTCTTCTTCAAACAATAAC	0.443000													98	183					0	0	0.870114	0	0
COL4A6	1288	broad.mit.edu	37	X	107554022	107554022	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107554022C>A	ENST00000394872.2	-	3	331	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000372216.4_Missense_Mutation_p.D35Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D34Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D34Y			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	35	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCACTGCAGTCCTGGCCCCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				115	295					4.00201e-40	5.19055e-40	0.870114	1	0
PLCB1	23236	broad.mit.edu	37	20	8745806	8745806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:8745806G>A	ENST00000378641.3	+	26	3206	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E911K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E911K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	911					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E911K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGACCATCGAAGAACTAAA	0.418000													6	65					0	0	0.307466	0	0
LRRC31	79782	broad.mit.edu	37	3	169579498	169579498	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:169579498C>G	ENST00000316428.5	-	2	336	c.279G>C	c.(277-279)ttG>ttC	p.L93F	LRRC31_ENST00000523069.1_Missense_Mutation_p.L93F|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L93F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	93								p.L93F(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTATTCAAATCTAGAC	0.428000													45	452					0	0	0.870114	0	0
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76343962T>A	ENST00000263187.3	+	11	1603	c.1499T>A	c.(1498-1500)aTa>aAa	p.I500K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	500					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I500K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTCTTGACATAGCAAGAAGA	0.348000								Mismatch excision repair (MMR)					47	140					0	0	0.870114	0	0
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:179077723C>G	ENST00000502732.1	-	12	2882	c.2679G>C	c.(2677-2679)aaG>aaC	p.K893N	ABL2_ENST00000408940.3_Missense_Mutation_p.K857N|ABL2_ENST00000504405.1_Missense_Mutation_p.K754N|ABL2_ENST00000507173.1_Missense_Mutation_p.K769N|ABL2_ENST00000512653.1_Missense_Mutation_p.K878N|ABL2_ENST00000511413.1_Missense_Mutation_p.K790N|ABL2_ENST00000344730.3_Missense_Mutation_p.K775N|ABL2_ENST00000367623.4_Missense_Mutation_p.K872N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	893	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K857N(2)|p.K893N(2)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCCACCATTCTTCTCTTTAC	0.617000			T	ETV6	AML								29	25					0	0	0.706142	0	0
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:35804479G>T	ENST00000216122.4	+	6	829	c.675G>T	c.(673-675)caG>caT	p.Q225H	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.Q182H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q225H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTCCAGACCCTGAAGC	0.582000													42	129					2.56175e-15	2.96037e-15	0.870114	1	0
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776988G>A	ENST00000392306.2	-	8	1321	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	SH2D2A_ENST00000368199.3_Silent_p.P384P|SH2D2A_ENST00000368198.3_Silent_p.P366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	384					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P384P(2)|p.P394P(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCCCAAGGGGAAGCCATG	0.592000													149	213					0	0	0.870114	0	0
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50360333C>T	ENST00000391842.1	+	6	830	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTOV1_ENST00000601675.1_Silent_p.Y220Y|PTOV1_ENST00000601638.1_Silent_p.Y188Y|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Silent_p.Y188Y|PTOV1_ENST00000599732.1_Silent_p.Y220Y|PTOV1_ENST00000600603.1_Silent_p.Y188Y|AC018766.5_ENST00000593654.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.Y220Y(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617000													20	137					0	0	0.740014	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1												p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562000													21	100					0	0	0.639603	0	0
TEX9	374618	broad.mit.edu	37	15	56681599	56681599	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:56681599G>A	ENST00000558083.2	+	5	500		c.e5+1		TEX9_ENST00000561221.2_Splice_Site|TEX9_ENST00000352903.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site			Q8N6V9	TEX9_HUMAN	testis expressed 9									p.?(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAAATTCAAGGTATAGTATAG	0.274000													5	51					0	0	0.217242	0	0
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:88482504C>T	ENST00000324166.5	+	6	2680	c.989C>T	c.(988-990)tCt>tTt	p.S330F	THNSL2_ENST00000402102.1_Missense_Mutation_p.S330F|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Missense_Mutation_p.S330F|THNSL2_ENST00000377254.3_Missense_Mutation_p.S330F|THNSL2_ENST00000358591.2_Missense_Mutation_p.S330F|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	330					threonine biosynthetic process		threonine synthase activity	p.S330F(2)|p.S330fs*2(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGGCTGCTCTCTGGCTCTGAC	0.547000													13	20					0	0	0.479597	0	0
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:21346252C>G	ENST00000377191.3	+	26	2461	c.2366C>G	c.(2365-2367)tCc>tGc	p.S789C	XRN2_ENST00000430571.2_Missense_Mutation_p.S713C|XRN2_ENST00000539513.1_Missense_Mutation_p.S735C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.S789C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGAAAAATCCAGCAATGGA	0.473000													26	231					0	0	0.740014	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851684	14851684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:14851684G>T	ENST00000358984.4	+	36	3564	c.3384G>T	c.(3382-3384)atG>atT	p.M1128I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1213								p.M1128I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AACTTCAAATGACCCTAAAAC	0.373000													11	29					1.99824e-07	2.14484e-07	0.520397	1	0
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62416029A>G	ENST00000330574.2	-	2	1575	c.1523T>C	c.(1522-1524)gTc>gCc	p.V508A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing	integral to membrane|integrator complex	protein binding	p.V508A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGGGTATAGACAGACAGCAG	0.577000													7	71					0	0	0.307466	0	0
KIF18B	146909	broad.mit.edu	37	17	43012664	43012664	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43012664T>C	ENST00000587309.1	-	3	457	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	KIF18B_ENST00000339151.4_Missense_Mutation_p.Q145R|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q145R|KIF18B_ENST00000438933.2_Missense_Mutation_p.Q145R|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q154R	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.Q145R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTTCTCCTGCTGGCGGGC	0.657000													3	21					0	0	0.150653	0	0
TSEN2	80746	broad.mit.edu	37	3	12558159	12558159	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12558159A>T	ENST00000444864.1	+	6	1268	c.882_splice	c.e6+1	p.K294_splice	TSEN2_ENST00000415684.1_Splice_Site_p.K294_splice|TSEN2_ENST00000314571.7_Splice_Site_p.K294_splice|TSEN2_ENST00000402228.3_Splice_Site_p.K320_splice|TSEN2_ENST00000284995.6_Splice_Site_p.K320_splice|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000454502.2_Splice_Site_p.K261_splice|C3orf83_ENST00000567514.1_Intron	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	320					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.K320M(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TACTATGAGAAGGTAAGATGC	0.318000													28	126					0	0	0.750413	0	0
HERC1	8925	broad.mit.edu	37	15	63942001	63942001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:63942001C>T	ENST00000443617.2	-	54	10757	c.10670G>A	c.(10669-10671)gGa>gAa	p.G3557E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3557					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.G3557E(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCCAGAGATCCATCCATCCG	0.517000													28	74					0	0	0.750413	0	0
SNX9	51429	broad.mit.edu	37	6	158342655	158342655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:158342655G>T	ENST00000392185.3	+	10	1213	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	348	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.E348*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTCAGAAAGTGAAGTTTTCCA	0.438000													26	66					1.1423e-28	1.41626e-28	0.740014	1	0
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171250036C>A	ENST00000354841.4	+	5	870	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	FMO1_ENST00000402921.2_Missense_Mutation_p.L184I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.L247I			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L247I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAATTCCCTCCCAACCCC	0.468000													36	149					4.90274e-10	5.43387e-10	0.819951	1	0
FANCM	57697	broad.mit.edu	37	14	45644332	45644332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45644332C>G	ENST00000267430.5	+	14	2460	c.2375C>G	c.(2374-2376)tCa>tGa	p.S792*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.S766*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	792					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S792*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGTTACCTCAACATTTATT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	119					0	0	0.575678	0	0
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247654775G>A	ENST00000522351.1	+	0	406							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V116I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGTCCTCCTGGTTGTCATGTC	0.607000													108	111					0	0	0.870114	0	0
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:89294166A>G	ENST00000370521.3	+	19	2781	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	PKN2_ENST00000544045.1_Missense_Mutation_p.M482V|PKN2_ENST00000370505.3_Missense_Mutation_p.M651V|PKN2_ENST00000370513.5_Missense_Mutation_p.M760V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.M808V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTCCAGGAATGGGATATGG	0.343000													16	72					0	0	0.592651	0	0
ZNF160	90338	broad.mit.edu	37	19	53576699	53576699	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53576699C>A	ENST00000355147.5	-	7	743	c.335G>T	c.(334-336)gGa>gTa	p.G112V	ZNF160_ENST00000418871.1_Intron|ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000601421.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGAGACTCTTCCATGAGGTTT	0.547000													14	56					4.14922e-12	4.69474e-12	0.500413	1	0
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:114879140C>A	ENST00000274457.3	-	2	612	c.51G>T	c.(49-51)cgG>cgT	p.R17R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	17						cytoplasm		p.R17R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGGTGAGAAGCCGGAGTTTGC	0.468000													10	45					4.36969e-10	4.84675e-10	0.435327	1	0
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:57490421G>C	ENST00000262507.6	+	4	453	c.384G>C	c.(382-384)ctG>ctC	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					ubiquinone biosynthetic process	mitochondrion		p.L128L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTAGTCTCTGGGTCTCTCCA	0.512000													65	97					0	0	0.870114	0	0
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61028318A>G	ENST00000373867.3	-	9	1153	c.688T>C	c.(688-690)Tac>Cac	p.Y230H	FAM13C_ENST00000422313.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000435852.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Y230H|FAM13C_ENST00000442566.3_Missense_Mutation_p.Y334H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Y334H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	313								p.Y313H(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTACCCGGTATTTCTTTTCT	0.493000													10	34					0	0	0.411799	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514983	50514983	+	Translation_Start_Site	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:50514983C>G	ENST00000419119.1	-	2	1556	c.3G>C	c.(1-3)atG>atC	p.M1I	FIGNL1_ENST00000433017.1_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000356889.4_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000435566.1_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000395556.2_Start_Codon_SNP_p.M1I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	1					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.M1I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGGAGGTCTGCATTTTAGAGG	0.363000													3	17					0	0	0.184627	0	0
FAM13A	10144	broad.mit.edu	37	4	89671609	89671609	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:89671609G>T	ENST00000264344.5	-	15	2113	c.1906C>A	c.(1906-1908)Cct>Act	p.P636T	FAM13A_ENST00000511976.1_Missense_Mutation_p.P222T|FAM13A_ENST00000508369.1_Missense_Mutation_p.P310T|FAM13A_ENST00000503556.1_Missense_Mutation_p.P296T|FAM13A_ENST00000395002.2_Missense_Mutation_p.P310T|FAM13A_ENST00000513837.1_Missense_Mutation_p.P282T	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P310T(1)|p.P636T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGGAAGGAGGCACTTCTGTG	0.512000													28	244					8.16721e-17	9.51324e-17	0.750413	1	0
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113539390T>C	ENST00000263339.3	-	4	265	c.110A>G	c.(109-111)cAt>cGt	p.H37R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	37					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.H37R(2)		breast(2)|large_intestine(1)|lung(9)	12						ATAGCTTACATGATAGAAGGA	0.443000													89	89					0	0	0.870114	0	0
PLXND1	23129	broad.mit.edu	37	3	129290610	129290610	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:129290610T>C	ENST00000393239.1	-	16	3333	c.3155A>G	c.(3154-3156)gAg>gGg	p.E1052G	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052G			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCGACGCTCGAAGCGCAC	0.662000													3	16					0	0	0.115264	0	0
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:3822343C>G	ENST00000497571.1	-	3	1015	c.755G>C	c.(754-756)cGa>cCa	p.R252P	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation	nucleus	zinc ion binding	p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGTGTGCTTTCGGAAGTGCCT	0.542000													7	21					0	0	0.361761	0	0
DSG2	1829	broad.mit.edu	37	18	29126355	29126355	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:29126355G>C	ENST00000261590.8	+	15	3215	c.3006G>C	c.(3004-3006)ctG>ctC	p.L1002L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1002					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.L1002L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGAATCCTCTGGAAGGCACTC	0.512000													29	176					0	0	0.693898	0	0
ZEB2	9839	broad.mit.edu	37	2	145156847	145156847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:145156847A>T	ENST00000558170.2	-	8	3091	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.L612*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.L636*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.L636*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	636						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L636*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACAGATGACAAGAGGAGGGC	0.443000													15	114					0	0	0.500413	0	0
SCN10A	6336	broad.mit.edu	37	3	38770045	38770045	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:38770045T>C	ENST00000449082.2	-	15	2627	c.2628A>G	c.(2626-2628)ctA>ctG	p.L876L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	876					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGGTTCCCTAGCACCATCA	0.502000													29	121					0	0	0.788014	0	0
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:120916426C>T	ENST00000422003.2	+	2	215	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TBCEL_ENST00000529397.1_Silent_p.F9F	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm|cytoskeleton		p.F9F(2)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GAAGAAGTTTCATGCAAGTAT	0.383000													20	60					0	0	0.654019	0	0
PABPC3	5042	broad.mit.edu	37	13	25671037	25671037	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:25671037G>T	ENST00000281589.3	+	1	738	c.701G>T	c.(700-702)gGa>gTa	p.G234V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	234	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.G234V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGGATTTGGATTTGTAAGC	0.433000													26	75					7.01153e-11	7.84241e-11	0.717897	1	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4674254C>G	ENST00000396952.5	+	2	1148	c.498C>G	c.(496-498)atC>atG	p.I166M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTCATCAAGCAGCTGC	0.552000													257	1050					0	0	0.870114	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61305166G>A	ENST00000341074.5	-	8	1075	c.960C>T	c.(958-960)agC>agT	p.S320S	SERPINB4_ENST00000356424.6_Silent_p.S268S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S320S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGACCGTGGCTCCAGGTCA	0.507000													65	223					0	0	0.870114	0	0
DMBT1	1755	broad.mit.edu	37	10	124377590	124377590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:124377590G>T	ENST00000368909.3	+	38	4668	c.4562G>T	c.(4561-4563)cGa>cTa	p.R1521L	DMBT1_ENST00000359586.6_Missense_Mutation_p.R372L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R893L|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1521L|DMBT1_ENST00000368956.2_Missense_Mutation_p.R893L|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1511L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1511L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1521	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1521L(4)|p.R1650L(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGAGGCCGAGTGGAGGTC	0.582000													183	792					1.11308e-80	1.52618e-80	0.870114	1	0
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800886G>C	ENST00000408964.2	+	1	1498	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	483								p.D483H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACTAGATCAAGTCAC	0.423000													12	71					0	0	0.435327	0	0
NEK9	91754	broad.mit.edu	37	14	75563845	75563845	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75563845G>A	ENST00000238616.5	-	17	2289	c.2131C>T	c.(2131-2133)Ccg>Tcg	p.P711S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	711					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.P711S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GACAGGTCCGGGACATGATGC	0.522000													24	235					0	0	0.717897	0	0
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:101671405C>T	ENST00000360264.3	+	3	222	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CUX1_ENST00000393824.3_Silent_p.L31L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.L57L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Silent_p.L68L|CUX1_ENST00000556210.1_Silent_p.L57L|CUX1_ENST00000292538.4_Silent_p.L68L|CUX1_ENST00000425244.2_Silent_p.L68L|CUX1_ENST00000292535.7_Silent_p.L57L|CUX1_ENST00000550008.2_Silent_p.L57L|CUX1_ENST00000549414.2_Silent_p.L57L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	57					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L57L(2)|p.L68L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGCCGCTGCTGAAGAGTTT	0.473000													17	68					0	0	0.654019	0	0
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128471546C>T	ENST00000322313.4	-	18	3077	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	973					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTCATGCCGCCTCTCTGACA	0.632000													9	8					0	0	0.435327	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071151	150071151	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:150071151G>C	ENST00000409642.3	+	7	952	c.551G>C	c.(550-552)aGa>aCa	p.R184T	LYPD6B_ENST00000409876.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000280115.7_Missense_Mutation_p.R184T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000498249.1_3'UTR	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	160						anchored to membrane|plasma membrane		p.R184T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACGCTCAGAGAACATCTGGC	0.498000													95	833					0	0	0.870114	0	0
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:115769466A>T	ENST00000264363.2	-	9	2523	c.1845T>A	c.(1843-1845)ctT>ctA	p.L615L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	615	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L615L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGCATAAGAAGAAATA	0.318000													28	59					0	0	0.740014	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155571195C>G	ENST00000392845.2	-	1	972	c.592G>C	c.(592-594)Gat>Cat	p.D198H	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D198H	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	198					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.D198H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCCAACCATCGACGGCAATG	0.473000													5	32					0	0	0.217242	0	0
PHF14	9678	broad.mit.edu	37	7	11022767	11022767	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11022767C>T	ENST00000403050.3	+	3	1333	c.881C>T	c.(880-882)tCt>tTt	p.S294F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	294							zinc ion binding	p.S294F(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTGACCCTATCTCAAAGCAAG	0.413000													34	102					0	0	0.853193	0	0
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152733553A>T	ENST00000368773.1	+	2	1547	c.1489A>T	c.(1489-1491)Agc>Tgc	p.S497C	KPRP_ENST00000606109.1_Missense_Mutation_p.S497C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm		p.S497C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGGCGCAGCCCCAGCCC	0.647000													25	25					0	0	0.760397	0	0
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:2832300G>A	ENST00000317243.5	+	4	451		c.e4-1		ZNF554_ENST00000591265.1_Splice_Site	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTTTTCAGAAGCCTTGAA	0.423000													27	37					0	0	0.717897	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026138	103026138	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103026138G>A	ENST00000375735.2	+	25	3796	c.3652G>A	c.(3652-3654)Gga>Aga	p.G1218R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1218R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1218	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCGTCTCCTTGGACTTCCTAG	0.403000													20	122					0	0	0.575678	0	0
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:141302217A>G	ENST00000394203.3	+	4	506	c.328A>G	c.(328-330)Agt>Ggt	p.S110G	SCOC_ENST00000338517.4_Missense_Mutation_p.S110G|SCOC_ENST00000502535.1_Missense_Mutation_p.S70G|SCOC_ENST00000506322.1_Missense_Mutation_p.S70G|SCOC_ENST00000512749.1_Missense_Mutation_p.S70G|SCOC_ENST00000394205.3_Missense_Mutation_p.S110G|SCOC_ENST00000394201.3_Missense_Mutation_p.S147G|SCOC_ENST00000506597.1_Missense_Mutation_p.S119G	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	147						Golgi apparatus|nucleus	protein binding	p.S147G(2)|p.S110G(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTCAGCTTCTAGTGTTTTTCA	0.338000													12	10					0	0	0.457914	0	0
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:119170450G>T	ENST00000264033.4	+	16	3056	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	894	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E894*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATCCTCCGGGAATTTGTTTC	0.488000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				231	447					1.06885e-119	1.4822e-119	0.870114	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:48578088G>A	ENST00000354276.3	-	12	1269	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PLA2G4C_ENST00000413144.2_Silent_p.L314L|PLA2G4C_ENST00000599921.1_Silent_p.L314L|PLA2G4C_ENST00000599111.1_Silent_p.L324L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	314	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.L314L(3)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATTCTCGAGCATCTCAG	0.512000													94	434					0	0	0.870114	0	0
NME8	51314	broad.mit.edu	37	7	37936508	37936508	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:37936508T>A	ENST00000199447.4	+	17	1953	c.1581T>A	c.(1579-1581)aaT>aaA	p.N527K	NME8_ENST00000440017.1_Missense_Mutation_p.N527K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	527	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCAAGTGGAATGCTGTTGCAG	0.473000													9	332					0	0	0.411799	0	0
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:47193890C>A	ENST00000433867.1	-	14	2253	c.1776G>T	c.(1774-1776)gaG>gaT	p.E592D	PRKD2_ENST00000291281.4_Missense_Mutation_p.E592D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D|PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D|PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572000													12	68					1.49906e-05	1.56876e-05	0.457914	1	0
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:144124453C>A	ENST00000395172.1	+	2	387	c.35C>A	c.(34-36)tCa>tAa	p.S12*	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	12								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCTGCAATTCAGTGAGGCAG	0.607000													25	58					2.42023e-17	2.83945e-17	0.779181	1	0
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:161495729C>A	ENST00000309758.4	+	1	1694	c.1281C>A	c.(1279-1281)acC>acA	p.T427T		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					response to unfolded protein		ATP binding	p.T427T(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAAGCAGACCCAGACTTTCA	0.597000													29	19					8.16721e-17	9.51324e-17	0.750413	1	0
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:106848433A>G	ENST00000228347.4	+	20	2459	c.2237A>G	c.(2236-2238)tAt>tGt	p.Y746C	POLR3B_ENST00000539066.1_Missense_Mutation_p.Y688C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	746					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.Y746C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGATGAGCTATAGTGGCTAT	0.373000													63	122					0	0	0.870114	0	0
POLR1E	64425	broad.mit.edu	37	9	37486630	37486630	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:37486630C>T	ENST00000377792.3	+	1	481	c.193C>T	c.(193-195)Cca>Tca	p.P65S	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	65					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTCTAGTCCCACCgtacat	0.552000													9	30					0	0	0.335167	0	0
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:26553192C>G	ENST00000381340.3	-	53	7816		c.e53-1		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTTCATCAGCTATAAAAACA	0.313000													25	90					0	0	0.681144	0	0
TEP1	7011	broad.mit.edu	37	14	20851673	20851673	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:20851673C>A	ENST00000262715.5	-	26	3881	c.3841G>T	c.(3841-3843)Gac>Tac	p.D1281Y	TEP1_ENST00000556935.1_Missense_Mutation_p.D1173Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1281	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.D1281Y(1)		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)		GGGATCCAGTCTGAAATCAGC	0.602000													10	71					0.00010058	0.000104435	0.411799	1	0
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110551679G>A	ENST00000369799.5	+	2	511	c.144G>A	c.(142-144)atG>atA	p.M48I	AHCYL1_ENST00000359172.3_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Start_Codon_SNP_p.M1I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	48					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.M48I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGATGACATGCAGGAGTTCA	0.393000													17	100					0	0	0.539581	0	0
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:17893966C>A	ENST00000594202.1	+	24	2357	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	FCHO1_ENST00000600676.1_Missense_Mutation_p.A693D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700D|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693D|FCHO1_ENST00000596536.1_Missense_Mutation_p.A693D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	693								p.A693D(2)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCCCAACGCCGATCTGCTG	0.617000													30	98					3.90053e-15	4.49683e-15	0.760397	1	0
TAPBP	6892	broad.mit.edu	37	6	33272866	33272866	+	Silent	SNP	G	G	A	rs145473025		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:33272866G>A	ENST00000434618.2	-	4	1113	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TAPBP_ENST00000475304.1_Silent_p.F274F|TAPBP_ENST00000489157.1_Silent_p.F169F|TAPBP_ENST00000426633.2_Silent_p.F256F|TAPBP_ENST00000456592.2_Silent_p.F256F	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	256					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	p.F256F(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGCAGCCAGAAGGTCCCAT	0.582000													14	65					0	0	0.457914	0	0
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128843023T>A	ENST00000296468.3	-	11	1221	c.1094A>T	c.(1093-1095)cAg>cTg	p.Q365L	MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320L|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACCTTCCCACTGTATTTTGGG	0.368000													24	20					0	0	0.681144	0	0
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512000													18	55					0	0	0.557998	0	0
PSG11	5680	broad.mit.edu	37	19	43530537	43530537	+	Translation_Start_Site	SNP	G	G	A	rs1064913		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43530537G>A	ENST00000401740.1	-	0	91				PSG11_ENST00000403486.1_De_novo_Start_OutOfFrame|PSG11_ENST00000320078.7_De_novo_Start_OutOfFrame|PSG11_ENST00000306322.7_De_novo_Start_OutOfFrame			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTCTGCTGCGTGCATGTTCT	0.582000													46	49					0	0	0.870114	0	0
PIGT	51604	broad.mit.edu	37	20	44054330	44054330	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:44054330C>G	ENST00000279036.6	+	12	1681	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PIGT_ENST00000543458.2_Missense_Mutation_p.T478S|PIGT_ENST00000279035.9_Missense_Mutation_p.T432S|PIGT_ENST00000545755.1_Missense_Mutation_p.T272S|PIGT_ENST00000372689.5_Missense_Mutation_p.T467S|PIGT_ENST00000535404.1_Missense_Mutation_p.T379S|PIGT_ENST00000341555.5_Missense_Mutation_p.T340S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	534					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T534S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCACGTGCACTGTGGTGGCC	0.612000													4	50					0	0	0.150653	0	0
NRP2	8828	broad.mit.edu	37	2	206607987	206607987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:206607987C>T	ENST00000360409.3	+	9	2143	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NRP2_ENST00000540178.1_Missense_Mutation_p.S451F|NRP2_ENST00000540841.1_Missense_Mutation_p.S451F|NRP2_ENST00000272849.3_Missense_Mutation_p.S451F|NRP2_ENST00000357785.5_Missense_Mutation_p.S451F|NRP2_ENST00000417189.1_Missense_Mutation_p.S451F|NRP2_ENST00000355117.4_Missense_Mutation_p.S451F|NRP2_ENST00000357118.4_Missense_Mutation_p.S451F|NRP2_ENST00000412873.2_Missense_Mutation_p.S451F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	451	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.S451F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCAGATCTCCGCCTCTTCC	0.617000													47	409					0	0	0.870114	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:202207129C>A	ENST00000405148.2	-	7	931	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.C163F|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.C163F|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.C163F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	163					regulation of GTPase activity		protein binding	p.C163F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CATCTCAGCACAGCGGAGATC	0.483000													150	150					9.35679e-66	1.26282e-65	0.870114	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039092	184039092	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184039092C>T	ENST00000342981.4	+	9	1134	c.720C>T	c.(718-720)atC>atT	p.I240I	EIF4G1_ENST00000346169.2_Silent_p.I240I|EIF4G1_ENST00000392537.2_Silent_p.I153I|EIF4G1_ENST00000424196.1_Silent_p.I247I|EIF4G1_ENST00000441154.1_Silent_p.I76I|EIF4G1_ENST00000427845.1_Silent_p.I153I|EIF4G1_ENST00000411531.1_Silent_p.I200I|EIF4G1_ENST00000435046.2_Silent_p.I44I|EIF4G1_ENST00000434061.2_Silent_p.I44I|EIF4G1_ENST00000414031.1_Silent_p.I200I|EIF4G1_ENST00000350481.5_Silent_p.I76I|EIF4G1_ENST00000352767.3_Silent_p.I247I|EIF4G1_ENST00000319274.6_Silent_p.I240I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.I247I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	240					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I240I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAGCAATCATTGCTGACC	0.572000													9	109					0	0	0.387290	0	0
ATP2B1	490	broad.mit.edu	37	12	90029006	90029006	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:90029006C>T	ENST00000428670.3	-	4	885	c.429G>A	c.(427-429)ggG>ggA	p.G143G	ATP2B1_ENST00000348959.3_Silent_p.G143G|ATP2B1_ENST00000261173.2_Silent_p.G143G|ATP2B1_ENST00000359142.3_Silent_p.G143G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	143					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G143G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTCTTCCTCCCCAACAGAAA	0.378000													12	117					0	0	0.457914	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:140508500C>G	ENST00000371421.4	+	5	516	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151								p.S151C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACGTGGCCTCTGCCACCAAG	0.652000													7	12					0	0	0.248553	0	0
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219920102G>A	ENST00000295731.5	-	3	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	355					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.H355Y(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCCAGGTGGTGGTCAGCC	0.647000													14	11					0	0	0.539581	0	0
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site	SNP	C	C	A	rs28940587		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64518939C>A	ENST00000164139.3	-	16	2226		c.e16-1		PYGM_ENST00000462303.1_Splice_Site|PYGM_ENST00000377432.3_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.?(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGGTGCAGCCTGAGGGGACA	0.602000													9	28					4.68919e-08	5.07793e-08	0.361761	1	0
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:12374318G>A	ENST00000358136.3	+	30	7212	c.7082G>A	c.(7081-7083)tGt>tAt	p.C2361Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2361Y	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2361				C -> R (in Ref. 6; CAE46021).	protein localization			p.C2361Y(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGTTCAGCTGTATCTTTCAG	0.493000													101	79					0	0	0.870114	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332433	71332433	+	Missense_Mutation	SNP	C	C	G	rs140128333		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71332433C>G	ENST00000242462.4	-	2	396	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	123	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.E123Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCAGCGTCTCGATCTTGGTG	0.652000													10	49					0	0	0.411799	0	0
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:23848711G>T	ENST00000303531.7	+	2	341	c.189G>T	c.(187-189)caG>caT	p.Q63H	PRKCB_ENST00000321728.7_Missense_Mutation_p.Q63H|PRKCB_ENST00000498058.1_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	63					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.Q63H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGGAAGCAGGGATTCCAGT	0.547000													22	60					2.41591e-17	2.83666e-17	0.681144	1	0
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:112838147C>G	ENST00000280155.2	+	1	1358	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	116					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.F116L(2)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	ACGTGCTCTTCTGCACGTCGT	0.622000													4	15					0	0	0.150653	0	0
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53010126G>A	ENST00000305748.3	-	2	520	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.T162T(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCCACTTGGTCTCCAGCA	0.552000													18	129					0	0	0.575678	0	0
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:24310356C>G	ENST00000357002.4	+	4	1669	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Y433*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	518					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y518*(2)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAAACCCTACAAATGTGAAG	0.368000													58	157					0	0	0.870114	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140788971A>T	ENST00000520790.1	+	1	1202	c.1202A>T	c.(1201-1203)tAc>tTc	p.Y401F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.Y401F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATAACTACTACAAACTG	0.458000													20	37					0	0	0.575678	0	0
ZNF300	91975	broad.mit.edu	37	5	150276098	150276098	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:150276098G>A	ENST00000446148.2	-	7	1178	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	ZNF300_ENST00000418587.2_Missense_Mutation_p.H199Y|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.H235Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H235Y	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H235Y(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCCATTGTGAATCTTCTCA	0.343000													35	158					0	0	0.834066	0	0
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:37821747C>T	ENST00000345060.3	-	2	1711	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	406					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	p.G406R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TAAGAAACTCCCCAAGAAGCC	0.507000													7	12					0	0	0.307466	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:209218694G>T	ENST00000264380.4	+	40	6075	c.5917G>T	c.(5917-5919)Gtc>Ttc	p.V1973F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1973	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.V1973F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTGATGTGGTCCTGCTAGA	0.393000													74	63					1.25089e-41	1.63251e-41	0.870114	1	0
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235949751A>G	ENST00000409212.1	+	4	845	c.338A>G	c.(337-339)aAc>aGc	p.N113S	SH3BP4_ENST00000344528.4_Missense_Mutation_p.N113S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N113S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.N113S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTTGAACTACCGGAAC	0.552000													15	65					0	0	0.479597	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798781	113798781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113798781G>A	ENST00000281273.4	+	8	1032	c.775G>A	c.(775-777)Gag>Aag	p.E259K	QTRTD1_ENST00000479882.1_Missense_Mutation_p.E136K|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E153K|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E271K	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	259					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.E259K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TCGGCCAGATGAGGTGCTCGA	0.408000													63	567					0	0	0.870114	0	0
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:108778673C>T	ENST00000232603.5	-	12	1093	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000483760.1_Silent_p.K337K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	337					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363000													116	229					0	0	0.870114	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:113436310G>T	ENST00000313341.3	-	2	648	c.322C>A	c.(322-324)Cgc>Agc	p.R108S		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.R108S(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTCTTGATGCGCTGCACCGTC	0.687000													17	19					3.32936e-07	3.56056e-07	0.539581	1	0
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52448768G>T	ENST00000545748.1	+	3	1813	c.818G>T	c.(817-819)gGg>gTg	p.G273V	NR4A1_ENST00000550082.1_Missense_Mutation_p.G232V|NR4A1_ENST00000394824.2_Missense_Mutation_p.G219V|NR4A1_ENST00000394825.1_Missense_Mutation_p.G219V|NR4A1_ENST00000548232.1_Missense_Mutation_p.G219V|NR4A1_ENST00000360284.3_Missense_Mutation_p.G232V|NR4A1_ENST00000243050.1_Missense_Mutation_p.G219V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	p.G219V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CACCAGCTGGGGGAGGGAGAG	0.632000													24	46					3.73988e-18	4.43032e-18	0.706142	1	0
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117552698A>T	ENST00000256652.4	+	2	328	c.270A>T	c.(268-270)cgA>cgT	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													26	92					0	0	0.769981	0	0
KCNN1	3780	broad.mit.edu	37	19	18092827	18092827	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:18092827A>T	ENST00000601725.1	+	0	443																											CACCTTCAACACGCGCTTCGT	0.612000													8	6					0	0	0.335167	0	0
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:669766C>G	ENST00000281017.3	-	4	411	c.318G>C	c.(316-318)atG>atC	p.M106I	TMEM18_ENST00000405941.3_Missense_Mutation_p.M109I|TMEM18_ENST00000355654.2_Missense_Mutation_p.M93I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	106					cell migration	integral to membrane|nuclear membrane		p.M106I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCACAATGATCATGGCATTCA	0.358000													19	81					0	0	0.592651	0	0
SV2A	9900	broad.mit.edu	37	1	149882451	149882451	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149882451G>A	ENST00000369146.3	-	4	1372	c.882C>T	c.(880-882)agC>agT	p.S294S	SV2A_ENST00000369145.1_Silent_p.S294S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	294					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S294S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCAGAGCCAGCTCAAATGCT	0.542000													14	69					0	0	0.520397	0	0
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776986A>C	ENST00000392306.2	-	8	1323	c.1184T>G	c.(1183-1185)cTt>cGt	p.L395R	SH2D2A_ENST00000368199.3_Missense_Mutation_p.L385R|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L367R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	385					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.L385R(2)|p.L395R(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGCCCAAGGGGAAGCCA	0.582000													150	203					0	0	0.870114	0	0
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:4892412G>T	ENST00000328908.5	+	4	783	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDYL_ENST00000449732.2_Nonsense_Mutation_p.E32*|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_Nonsense_Mutation_p.E32*|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E164*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	218					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.E218*(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGAGCCCTGAGAAACTGGA	0.597000													19	16					7.33532e-06	7.72056e-06	0.667858	1	0
PCSK2	5126	broad.mit.edu	37	20	17446140	17446140	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:17446140G>C	ENST00000262545.2	+	11	1687	c.1372G>C	c.(1372-1374)Gac>Cac	p.D458H	PCSK2_ENST00000536609.1_Missense_Mutation_p.D423H|PCSK2_ENST00000377899.1_Missense_Mutation_p.D439H|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	458					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D458H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATGGCTAAAGACTGGAAAAC	0.567000													13	75					0	0	0.479597	0	0
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:121295936C>G	ENST00000297848.3	+	32	4156	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1201A|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1296A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1296	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1296A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGGATTCTTCCTGACACTCC	0.388000													14	66					0	0	0.020292	0	0
TTYH3	80727	broad.mit.edu	37	7	2686509	2686509	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:2686509C>T	ENST00000258796.7	+	2	351	c.146C>T	c.(145-147)gCc>gTc	p.A49V	TTYH3_ENST00000407643.1_Missense_Mutation_p.A49V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	49						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGGGGCCGCCGCCCTGGCC	0.726000													5	15					0	0	0.029380	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842568	22842568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22842568G>A	ENST00000360412.2	-	4	1931	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF280B_ENST00000406426.1_Nonsense_Mutation_p.Q386*	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q386*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAGAGGACCTGATCTGTTTCA	0.468000													14	83					0	0	0.020292	0	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10602328C>T	ENST00000171111.5	-	3	1797	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													13	11					0	0	0.016723	0	0
PGAM5	192111	broad.mit.edu	37	12	133291505	133291505	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:133291505C>G	ENST00000498926.2	+	2	311	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.L85V|PXMP2_ENST00000545677.1_Missense_Mutation_p.A124G|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	85						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GGAAGAAGAGCTGGCGTCCAA	0.542000													6	77					0	0	0.004482	0	0
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:42355849T>A	ENST00000554171.1	+	5	2453	c.21T>A	c.(19-21)taT>taA	p.Y7*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.Y7*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.Y7*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	7						integral to membrane		p.Y7*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTTTTTTATCTGTTTCTCA	0.363000										HNSCC(30;0.082)			5	14					0	0	0.021553	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:67800450G>T	ENST00000313468.5	+	4	277	c.170G>T	c.(169-171)cGc>cTc	p.R57L	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	57					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	p.R57L(2)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CGGGCAGCCCGCACCCTGCTG	0.652000													44	57					6.21074e-16	8.39448e-16	0.011902	1	0
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:7231811G>T	ENST00000383467.2	+	1	689	c.675G>T	c.(673-675)ccG>ccT	p.P225P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTCCTTCCCGAGGTCGCTTT	0.577000													15	50					3.35478e-16	4.53863e-16	0.024245	1	0
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:122063033G>T	ENST00000454328.1	-	11	1050	c.823C>A	c.(823-825)Cac>Aac	p.H275N	TNIP3_ENST00000507879.1_Missense_Mutation_p.H345N|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.H352N|TNIP3_ENST00000057513.3_Missense_Mutation_p.H275N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	275								p.H275N(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTTGCAGGTGGAAAACCAAG	0.502000													10	16					2.80697e-09	3.4723e-09	0.010729	1	0
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:18112823C>A	ENST00000403915.1	+	3	999	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.S183Y|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	183					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.S183Y(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTGCCTGTCCGCTAAGCTT	0.507000													12	28					0.000978159	0.00104308	0.010729	1	0
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:76372111C>A	ENST00000407242.2	-	3	768	c.526G>T	c.(526-528)Gag>Tag	p.E176*	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E176*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E176*|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176						integral to plasma membrane		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637000													14	60					1.56452e-12	2.03388e-12	0.007413	1	0
GOLGA2P5	55592	broad.mit.edu	37	12	100561198	100561198	+	RNA	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100561198T>C	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						TCTCCGTTTGTAGTTATCTAA	0.498000													3	8					0	0	0.004672	0	0
DRD3	1814	broad.mit.edu	37	3	113890706	113890706	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113890706A>T	ENST00000383673.2	-	2	564	c.134T>A	c.(133-135)tTc>tAc	p.F45Y	DRD3_ENST00000467632.1_Missense_Mutation_p.F45Y|DRD3_ENST00000295881.7_Missense_Mutation_p.F45Y|DRD3_ENST00000460779.1_Missense_Mutation_p.F45Y	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	45					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCATTGCCGAAGACGATGGC	0.607000													10	104					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400307A>T	ENST00000397909.2	+	8	1162	c.989A>T	c.(988-990)aAg>aTg	p.K330M	NAV3_ENST00000536525.2_Missense_Mutation_p.K330M|NAV3_ENST00000228327.6_Missense_Mutation_p.K330M|NAV3_ENST00000266692.7_Missense_Mutation_p.K330M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K330M(2)		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						AGTGCCAGCAAGCCCTGGCGC	0.547000										HNSCC(70;0.22)			18	36					0	0	0.006122	0	0
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70535449C>A	ENST00000377844.4	-	3	1567	c.808G>T	c.(808-810)Gca>Tca	p.A270S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A77S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	270	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTATATGCAAATTGGACA	0.353000													5	14					0.000602214	0.000645552	0.014758	1	0
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148513776C>T	ENST00000320356.2	-	12	1626	c.1505_splice	c.e12+1	p.R502_splice	EZH2_ENST00000478654.1_Splice_Site_p.R488_splice|EZH2_ENST00000483967.1_Splice_Site_p.R488_splice|EZH2_ENST00000541220.1_Splice_Site_p.R488_splice|EZH2_ENST00000476773.1_Splice_Site_p.R488_splice|EZH2_ENST00000460911.1_Splice_Site_p.R497_splice|EZH2_ENST00000350995.2_Splice_Site_p.R458_splice	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	497					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R502Q(2)|p.R458Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAGACTCACCGGTGTTTCCT	0.453000			Mis		DLBCL								19	20					0	0	0.008871	0	0
UNC79	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083525C>A	ENST00000553484.1	+	29	4319	c.4165C>A	c.(4165-4167)Ctc>Atc	p.L1389I	UNC79_ENST00000555664.1_Missense_Mutation_p.L1367I|UNC79_ENST00000256339.4_Missense_Mutation_p.L1190I|UNC79_ENST00000393151.2_Missense_Mutation_p.L1367I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1367						integral to membrane		p.L1190I(2)|p.L1389I(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTTCAGGTGCTCAAATACTG	0.433000													12	49					1.61879e-10	2.03953e-10	0.013537	1	0
MB21D2	151963	broad.mit.edu	37	3	192516994	192516994	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:192516994G>A	ENST00000392452.2	-	2	977	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	219								p.I217I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGATGGAGATGATGGTCCCAT	0.468000													7	88					0	0	0.029380	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:148797297A>T	ENST00000355220.5	+	4	328	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S47C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	76						cytoplasm|nucleus	protein binding	p.S76C(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGACAGGAGTCCCAGGAG	0.502000													35	61					0	0	0.015359	0	0
KMT2C	58508	broad.mit.edu	37	7	151945082	151945082	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:151945082G>C	ENST00000355193.2	-	14	2655	c.2437C>G	c.(2437-2439)Cca>Gca	p.P813A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P813A					lysine (K)-specific methyltransferase 2C									p.P813A(2)									TAAGTTGTTGGCATGATGTTT	0.448000													8	110					0	0	0.003080	0	0
VEZF1	7716	broad.mit.edu	37	17	56058018	56058018	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:56058018G>C	ENST00000584396.1	-	4	983	c.895C>G	c.(895-897)Cat>Gat	p.H299D	VEZF1_ENST00000581208.1_Missense_Mutation_p.H308D			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H308D(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTCTGCCCATGAGTCTTTAAG	0.443000													8	54					0	0	0.006214	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677957	55677957	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55677957C>T	ENST00000527223.2	-	1	61	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.V20V	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0								p.V20V(1)									GGACCCGCGGCACTCCACAAC	0.582000													28	139					0	0	0.030593	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104335781G>A	ENST00000361820.3	-	9	3623	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGCTGACGGGGTCCCACATT	0.448000													15	45					0	0	0.020292	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:11505373G>T	ENST00000379237.1	-	15	1948	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518						intracellular	Rab GTPase activator activity	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000													66	70					1.1362e-29	1.6199e-29	0.014410	1	0
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180581966C>A	ENST00000328275.1	+	1	24	c.24C>A	c.(22-24)tcC>tcA	p.S8S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACCAGTCCTACACAGATG	0.507000													22	59					1.55469e-16	2.10931e-16	0.018920	1	0
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:151789697G>T	ENST00000367294.3	+	5	1037	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	C6orf211_ENST00000545879.1_Missense_Mutation_p.V141F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	260							protein binding	p.V260F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTGAGCTTGTTACAGATTT	0.358000													48	43					1.51926e-22	2.11955e-22	0.014410	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31744334G>C	ENST00000399889.2	-	1	223	c.198C>G	c.(196-198)tgC>tgG	p.C66W		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	5 X 10 AA approximate repeats.					intermediate filament		p.C66W(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGACGTCTGGCAGCTGGTGG	0.602000													13	41					0	0	0.016723	0	0
TAP2	6891	broad.mit.edu	37	6	32805830	32805830	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32805830A>C	ENST00000374897.2	-	2	312	c.181T>G	c.(181-183)Ttt>Gtt	p.F61V	TAP2_ENST00000374899.4_Missense_Mutation_p.F61V|TAP2_ENST00000452392.2_Missense_Mutation_p.F61V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	61					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.F61V(2)									GTCCCCACAAATCCCAGCAGC	0.667000													17	85					0	0	0.028581	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367838	47367838	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:47367838G>C	ENST00000545968.1	-	12	1064	c.1010C>G	c.(1009-1011)gCc>gGc	p.A337G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A337G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A337G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	337					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.A337G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTACTGGAAGGCGATGCGCTC	0.612000													12	18					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56401663	56401663	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:56401663G>C	ENST00000370754.5	-	62	16590	c.16591C>G	c.(16591-16593)Cag>Gag	p.Q5531E	DST_ENST00000244364.6_Missense_Mutation_p.Q2939E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3265E|DST_ENST00000446842.2_Missense_Mutation_p.Q5027E|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Q3265E|DST_ENST00000370769.4_Missense_Mutation_p.Q5353E|DST_ENST00000361203.3_Missense_Mutation_p.Q5351E			Q03001	DYST_HUMAN	dystonin	5351					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q5353E(1)|p.Q2939E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGCACTCTGAATAAGGCCT	0.423000													6	47					0	0	0.029380	0	0
TTC40	54777	broad.mit.edu	37	10	134648922	134648922	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:134648922C>T	ENST00000368586.5	-	47	6730	c.6630G>A	c.(6628-6630)atG>atA	p.M2210I	TTC40_ENST00000263170.5_Missense_Mutation_p.M371I	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	371								p.M371I(1)|p.M2210I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCCAGACGCATCACCTTGC	0.632000													15	48					0	0	0.028581	0	0
SNX27	81609	broad.mit.edu	37	1	151641082	151641082	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:151641082G>A	ENST00000368843.3	+	7	1240	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.D281N|SNX27_ENST00000458013.2_Missense_Mutation_p.D374N	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	374					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.D374N(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAATGACAATGACCTTGCTGT	0.363000													8	51					0	0	0.004482	0	0
MARCH1	55016	broad.mit.edu	37	4	164534557	164534557	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:164534557A>T	ENST00000339875.5	-	1	129	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	51	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L34M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGAAACAAGTTAGATAAT	0.438000													15	18					0	0	0.020292	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:103349497T>G	ENST00000357421.4	-	2	624	c.444A>C	c.(442-444)caA>caC	p.Q148H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	148					transport	integral to membrane|mitochondrial inner membrane		p.Q148H(2)									GGAAGCGAGCTTGCTTGCGAC	0.587000													36	109					0	0	0.017118	0	0
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113955199C>T	ENST00000245796.6	+	13	2640	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	PSD4_ENST00000441564.2_Silent_p.L787L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L815L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATGGTTCTCTACTTCCTGA	0.552000													22	48					0	0	0.012319	0	0
TRPC6	7225	broad.mit.edu	37	11	101375108	101375108	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:101375108G>T	ENST00000344327.3	-	2	1016	c.592C>A	c.(592-594)Cag>Aag	p.Q198K	TRPC6_ENST00000348423.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000532133.1_Missense_Mutation_p.Q198K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q198K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	198					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.Q198K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTCAGACTGGCTAGGGCTG	0.468000													7	38					8.12818e-05	8.91358e-05	0.029380	1	0
TRPT1	83707	broad.mit.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63991664C>G	ENST00000394546.2	-	7	797	c.584G>C	c.(583-585)cGc>cCc	p.R195P	TRPT1_ENST00000317459.6_Missense_Mutation_p.R193P|TRPT1_ENST00000546089.1_Intron|TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144P	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193							tRNA 2'-phosphotransferase activity	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567000													12	67					0	0	0.013537	0	0
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:148846478G>T	ENST00000367467.3	+	11	1736	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421							protein binding	p.G421C(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTGCACGTTGGCAGTAATAA	0.423000													42	54					4.62893e-10	5.75598e-10	0.013114	1	0
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15138469G>A	ENST00000378207.3	-	2	628	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	119						integral to membrane		p.L119F(2)		lung(5)|upper_aerodigestive_tract(1)	6						GCGGGGAGAAGGAGGAGGCTC	0.478000													23	28					0	0	0.014323	0	0
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:129357178G>T	ENST00000393232.1	+	9	1302	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	NRF1_ENST00000223190.4_Missense_Mutation_p.E395D|NRF1_ENST00000393231.3_Missense_Mutation_p.E395D|NRF1_ENST00000539636.1_Missense_Mutation_p.E234D|NRF1_ENST00000393230.2_Missense_Mutation_p.E395D|NRF1_ENST00000353868.4_Missense_Mutation_p.E329D|NRF1_ENST00000311967.2_Missense_Mutation_p.E395D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E395D(2)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCTCAGGAGATGCAGCAGG	0.572000													16	23					1.3612e-06	1.57741e-06	0.024245	1	0
TRAV24	28659	broad.mit.edu	37	14	22573837	22573837	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22573837C>G	ENST00000390453.1	+	0	57																											AAAAAACAGGCGTGAGCAGCA	0.438000													6	7					0	0	0.021553	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:139909060G>T	ENST00000297183.6	+	29	6653	c.6529G>T	c.(6529-6531)Gtg>Ttg	p.V2177L	ANKHD1_ENST00000544120.1_Missense_Mutation_p.V560L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V2177L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.V2177L(4)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCTGCAGTGCAGCTTTC	0.443000													24	96					5.35356e-11	6.82316e-11	0.016522	1	0
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:21214028T>C	ENST00000592179.1	-	5	570	c.416A>G	c.(415-417)cAt>cGt	p.H139R	ANKRD29_ENST00000322980.9_Missense_Mutation_p.H139R|ANKRD29_ENST00000284207.7_Missense_Mutation_p.H139R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139								p.H139R(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTGGTCATGGATGTTTGC	0.493000													9	31					0	0	0.006214	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149001437A>T	ENST00000333677.6	+	9	1310	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	383	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S383C(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGGTGGGCAGTGTGACCTA	0.592000													21	52					0	0	0.016522	0	0
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155615825A>G	ENST00000496455.1	+	3	654	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.M107V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGCTATGGTATGCAGGTATG	0.363000			T	MLL	AML								22	93					0	0	0.014323	0	0
TNNI2	7136	broad.mit.edu	37	11	1862435	1862435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1862435A>T	ENST00000381906.1	+	7	520	c.451A>T	c.(451-453)Aag>Tag	p.K151*	TNNI2_ENST00000381911.1_Nonsense_Mutation_p.K151*|TNNI2_ENST00000252898.7_Nonsense_Mutation_p.K151*|TNNI2_ENST00000381905.3_Nonsense_Mutation_p.K151*	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	151					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	p.K151*(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGACACAGAGAAGGTGCGTGC	0.667000													8	25					0	0	0.006214	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport|sodium ion transport	integral to membrane		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677000													15	30					0	0	0.020292	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:220097894G>C	ENST00000323348.5	+	6	826	c.652G>C	c.(652-654)Gct>Cct	p.A218P	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A218P|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A8P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	218						intracellular	zinc ion binding	p.A218P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTTTGCTGGTGCTAT	0.557000													85	205					0	0	0.014410	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302615	87302615	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:87302615T>C	ENST00000263780.4	+	5	724	c.486T>C	c.(484-486)atT>atC	p.I162I	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Silent_p.I132I|CHMP2B_ENST00000471660.1_Silent_p.I121I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	162					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.I162I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCCAGGATATTGTGAATCAAG	0.378000													3	18					0	0	0.004672	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103106399A>T	ENST00000375735.2	+	62	9711		c.e62-1		DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTTCCAGGTTGTAGAG	0.373000													4	4					0	0	0.009096	0	0
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40095333G>T	ENST00000591658.1	+	0	1034							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L322F(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAAACTTGTATAGCTGCA	0.512000													8	23					5.18039e-06	5.92637e-06	0.003080	1	0
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	T	C	rs141436878		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:76111922T>C	ENST00000324432.5	+	5	876	c.366T>C	c.(364-366)acT>acC	p.T122T	DTX2_ENST00000307569.8_Silent_p.T122T|DTX2_ENST00000446600.1_Silent_p.T31T|DTX2_ENST00000446820.2_Silent_p.T122T|DTX2_ENST00000430490.2_Silent_p.T122T|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Silent_p.T122T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	122	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.T122T(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTCCTGGACTGCCTATGAAG	0.632000													35	45					0	0	0.013726	0	0
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:234593467G>A	ENST00000040877.1	-	9	1667	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L556L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAGACATGAGAAAAGTTG	0.328000													17	14					0	0	0.010504	0	0
LRP1B	53353	broad.mit.edu	37	2	141773472	141773472	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:141773472C>G	ENST00000389484.3	-	13	2954	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	661					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W661C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTCTGTCCAATACATCC	0.403000										TSP Lung(27;0.18)			9	57					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69758130C>G	ENST00000370598.1	+	14	2982	c.2161C>G	c.(2161-2163)Cca>Gca	p.P721A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAACTTTCCAATGAAAGG	0.363000													15	6					0	0	0.028581	0	0
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:82336941T>A	ENST00000329713.4	-	2	705	c.270A>T	c.(268-270)aaA>aaT	p.K90N	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	90	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.K90N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCCGCAGCGCTTTGATTTTAC	0.597000													14	35					0	0	0.020292	0	0
MOB4	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198400314G>A	ENST00000323303.4	+	3	439	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MOB4_ENST00000409360.1_Missense_Mutation_p.E30K|MOB4_ENST00000448447.2_Missense_Mutation_p.E41K|MOB4_ENST00000233892.4_Missense_Mutation_p.E30K|MOB4_ENST00000604458.1_Missense_Mutation_p.E98K|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein									p.E62K(2)									TGAACCACCTGAAGGCCAAGA	0.318000													50	46					0	0	0.014410	0	0
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:121738051G>C	ENST00000264808.3	-	6	919	c.679C>G	c.(679-681)Cta>Gta	p.L227V	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L227V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACTCCTTTAGACTGCTTTTC	0.368000													14	49					0	0	0.024245	0	0
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:84399443C>A	ENST00000260505.8	-	9	1272	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.V299L(2)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTCTTTACCACCAATTCCTAT	0.443000													10	29					3.07112e-06	3.5303e-06	0.010729	1	0
NCK2	8440	broad.mit.edu	37	2	106498084	106498084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:106498084C>G	ENST00000233154.4	+	4	969	c.527C>G	c.(526-528)tCc>tGc	p.S176C	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S176C	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	176					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.S176C(1)		endometrium(1)|lung(3)|ovary(1)	5						GCTGCGGAGTCCCCAAGCTTC	0.657000													7	92					0	0	0.029380	0	0
PIWIL4	143689	broad.mit.edu	37	11	94330994	94330994	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:94330994A>G	ENST00000299001.6	+	11	1504	c.1293A>G	c.(1291-1293)ctA>ctG	p.L431L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.L431L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTTTGAACTAGAGACCTGGG	0.383000													10	15					0	0	0.008291	0	0
KLHL14	57565	broad.mit.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						cytosol|endoplasmic reticulum membrane		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378000													10	54					0	0	0.008291	0	0
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30649288C>A	ENST00000389266.3	+	7	1064	c.823C>A	c.(823-825)Cca>Aca	p.P275T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.P275T(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCTATCCCCTCCAGTGTCTTT	0.358000													13	26					0.00010058	0.000109877	0.013537	1	0
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247695646G>T	ENST00000366487.3	-	2	529	c.168C>A	c.(166-168)ctC>ctA	p.L56L	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493000													45	45					2.47872e-24	3.47507e-24	0.010771	1	0
ZNF860	344787	broad.mit.edu	37	3	32031984	32031984	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:32031984T>A	ENST00000360311.4	+	2	1962	c.1413T>A	c.(1411-1413)atT>atA	p.I471I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I471I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.408000													6	22					0	0	0.029380	0	0
ZNF160	90338	broad.mit.edu	37	19	53572843	53572843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53572843C>A	ENST00000601421.1	-	3	1712	c.836G>T	c.(835-837)tGt>tTt	p.C279F	ZNF160_ENST00000429604.1_Missense_Mutation_p.C315F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C315F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C315F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	315					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C315F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATGACATTTGTAAGG	0.413000													13	80					4.3838e-07	5.14683e-07	0.016723	1	0
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90039433G>A	ENST00000435041.2	-	8	1200	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.L308L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCGTTTGCCAGATATATTCGT	0.403000													18	17					0	0	0.006122	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044714	184044714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184044714C>G	ENST00000342981.4	+	22	3788	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.S961*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.S929*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.S1037*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.S1084*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.S1124*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.S1038*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.S1085*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.S1124*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.S960*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.S928*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1124					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S1124*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCTTCTCAGCCCTTCAA	0.463000													9	169					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:216348824G>A	ENST00000366943.2	-	21	4783	c.4396_splice	c.e21-1	p.A1466_splice	USH2A_ENST00000366942.3_Splice_Site_p.A1466_splice|USH2A_ENST00000307340.3_Splice_Site_p.A1466_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1466					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1466V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGCTGGTGCTAAATATTA	0.373000										HNSCC(13;0.011)			11	30					0	0	0.013537	0	0
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:15268584T>C	ENST00000546332.1	-	6	1019	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ASB9_ENST00000380488.4_Missense_Mutation_p.Q179R|ASB9_ENST00000380483.3_Missense_Mutation_p.Q169R|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.Q179R	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	179					intracellular signal transduction			p.Q179R(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTCTCTGTTGGTTTTC	0.403000													16	43					0	0	0.033300	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:124676442G>T	ENST00000368417.1	+	3	282	c.222G>T	c.(220-222)acG>acT	p.T74T	NKAIN2_ENST00000368416.1_Silent_p.T74T|NKAIN2_ENST00000545433.1_Silent_p.T59T|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Silent_p.T74T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	74						integral to membrane|plasma membrane		p.T74T(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCTGGGTTACGTGGAATGTGT	0.388000													28	36					2.2171e-23	3.09615e-23	0.009535	1	0
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:1056458C>A	ENST00000382251.3	+	5	1200	c.871C>A	c.(871-873)Cca>Aca	p.P291T	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P291T|DMRT2_ENST00000302441.6_Missense_Mutation_p.P291T|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	291					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P291T(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAGCCCCAGCCCAGTGGAACC	0.483000													13	45					1.61879e-10	2.03953e-10	0.013537	1	0
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599591G>C	ENST00000403807.3	+	2	419	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	VPREB1_ENST00000302273.2_Missense_Mutation_p.A93P			P12018	VPREB_HUMAN	pre-B lymphocyte 1	94	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CAAAGATGTGGCCAGGAACAG	0.592000													33	54					0	0	0.010818	0	0
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:203455883C>T	ENST00000343110.2	+	3	1150	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	341					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D341D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTTCCATGACTTCTCCTCGG	0.562000													14	34					0	0	0.020292	0	0
PIGZ	80235	broad.mit.edu	37	3	196675122	196675122	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:196675122G>A	ENST00000412723.1	-	3	792	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637000													18	125					0	0	0.006122	0	0
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76211508C>T	ENST00000298832.9	+	16	1557	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TTLL5_ENST00000556893.1_5'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.P465L|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.P451L(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGAAAGGGCCAGGGAAGTTG	0.453000													18	28					0	0	0.007413	0	0
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32037579C>T	ENST00000375244.3	-	15	5539	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1780K			P22105	TENX_HUMAN	tenascin XB	1862	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E1867K(1)|p.E1780K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCTCCTCCCCCAGACGG	0.577000													9	20					0	0	0.006214	0	0
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156618623C>T	ENST00000329117.4	+	6	1369	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.H345Y	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	345	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.H345Y(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAATAAGCACAGCCGCTT	0.577000													111	100					0	0	0.014410	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:89265822C>G	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													21	86					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179599169A>T	ENST00000589042.1	-	52	15606	c.15382T>A	c.(15382-15384)Tct>Act	p.S5128T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3884T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S4811T|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4811	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3884T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGAGACTTCTGAGAA	0.393000													22	61					0	0	0.010504	0	0
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:41410526A>G	ENST00000551295.2	+	19	2344	c.2227A>G	c.(2227-2229)Ata>Gta	p.I743V	CNTN1_ENST00000348761.2_Missense_Mutation_p.I732V|CNTN1_ENST00000347616.1_Missense_Mutation_p.I743V|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	743	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I743V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTTGGTTACATAGTGGCATT	0.363000													11	30					0	0	0.008291	0	0
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40280324C>A	ENST00000393860.3	-	5	712	c.396G>T	c.(394-396)gcG>gcT	p.A132A	CTD-2132N18.3_ENST00000592574.1_Silent_p.A132A|RAB5C_ENST00000547517.1_Silent_p.A165A|RAB5C_ENST00000346213.4_Silent_p.A132A	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.A132A(2)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTTGTTACCCGCGAGTGCAA	0.587000													16	61					6.31663e-08	7.60975e-08	0.024245	1	0
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:49754596G>C	ENST00000304801.3	-	1	457	c.305C>G	c.(304-306)gCa>gGa	p.A102G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.A102G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACTTCTGCGCCTACACA	0.532000													40	36					0	0	0.025465	0	0
GGH	8836	broad.mit.edu	37	8	63930053	63930053	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:63930053T>C	ENST00000260118.6	-	8	1236	c.835_splice	c.e8+1	p.E278_splice		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	278	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E278E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATATTACCTTCATTAACAA	0.358000													7	36					0	0	0.008291	0	0
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:656540C>A	ENST00000380907.2	-	1	423	c.405G>T	c.(403-405)cgG>cgT	p.R135R	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	135								p.R135R(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGGGAAGCACCCGCACGGGCA	0.731000													51	29					5.73376e-24	8.03063e-24	0.014410	1	0
LAD1	3898	broad.mit.edu	37	1	201356047	201356047	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:201356047G>C	ENST00000391967.2	-	3	743	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	LAD1_ENST00000367313.3_Missense_Mutation_p.R162G	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	148						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CGCTGTTCCCGACTCAGTCTC	0.612000													11	126					0	0	0.010729	0	0
SCAF11	9169	broad.mit.edu	37	12	46321290	46321290	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:46321290C>G	ENST00000465950.1	-	1	2458	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	SCAF11_ENST00000369367.3_Missense_Mutation_p.E732Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E540Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E732Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	732					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCAACTTCAGATTCATTT	0.348000													5	63					0	0	0.021553	0	0
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56380893C>A	ENST00000526538.1	-	1	85	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G29V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGAATACCCCAAACAGGAT	0.473000													9	30					2.17888e-05	2.44185e-05	0.006214	1	0
TMTC3	160418	broad.mit.edu	37	12	88588674	88588674	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:88588674C>T	ENST00000266712.6	+	14	2213	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	666						integral to membrane	binding	p.P665S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAATGAAGAGCCACTAGATGC	0.323000													3	20					0	0	0.004672	0	0
UBAP2	55833	broad.mit.edu	37	9	33927814	33927814	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:33927814G>A	ENST00000379238.1	-	20	2469	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	UBAP2_ENST00000379235.1_Silent_p.A23A|UBAP2_ENST00000360802.1_Silent_p.A784A|UBAP2_ENST00000379239.4_Silent_p.A517A|UBAP2_ENST00000539807.1_Silent_p.A539A|UBAP2_ENST00000449054.1_Silent_p.A784A			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	784										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCAAGGGCGCGGCCCTGCTAC	0.652000													4	93					0	0	0.014758	0	0
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3651249C>G	ENST00000263087.4	-	17	2220	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	708					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E708Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGATTTCAAAACATAAA	0.542000													8	31					0	0	0.003080	0	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56140121C>G	ENST00000319441.4	+	9	1508	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	PCK1_ENST00000543666.1_Silent_p.L131L|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000													18	129					0	0	0.033300	0	0
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57649865C>G	ENST00000269834.1	-	3	502	c.117G>C	c.(115-117)gaG>gaC	p.E39D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGTAATTCTCCAGCATCA	0.547000													16	68					0	0	0.024245	0	0
RGS12	6002	broad.mit.edu	37	4	3424297	3424297	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:3424297G>T	ENST00000336727.3	+	11	3937	c.3033_splice	c.e11+1	p.K1011_splice	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Splice_Site_p.K1011_splice|RGS12_ENST00000344733.5_Splice_Site_p.K1011_splice|RGS12_ENST00000306648.7_Splice_Site_p.K409_splice|RGS12_ENST00000338806.4_Splice_Site_p.K363_splice|RGS12_ENST00000538395.1_Splice_Site_p.K353_splice	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1011	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.K1011N(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGGACAAGGTACTGGGCC	0.677000													20	15					2.37509e-13	3.11595e-13	0.010504	1	0
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125453184C>A	ENST00000308736.2	-	10	1402	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DHX37_ENST00000544745.1_Missense_Mutation_p.R222M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R435M(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGGAACTGCCTGGATTCCAC	0.602000													47	139					1.61004e-24	2.25942e-24	0.014410	1	0
NECAB3	63941	broad.mit.edu	37	20	32248157	32248157	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32248157G>C	ENST00000246190.6	-	6	487	c.432C>G	c.(430-432)ttC>ttG	p.F144L	NECAB3_ENST00000375238.4_Missense_Mutation_p.F144L|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	144					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						CCCGCAGCAGGAAGCGCGTCA	0.637000													9	87					0	0	0.004482	0	0
CENPE	1062	broad.mit.edu	37	4	104067129	104067129	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:104067129G>C	ENST00000265148.3	-	30	4359	c.4270C>G	c.(4270-4272)Ctc>Gtc	p.L1424V	CENPE_ENST00000380026.3_Missense_Mutation_p.L1399V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1424					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GACAATCCGAGCATTTCTATT	0.363000													6	44					0	0	0.021553	0	0
FOLR3	2352	broad.mit.edu	37	11	71850011	71850011	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71850011G>C	ENST00000445078.2	+	3	366	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	FOLR3_ENST00000442948.2_Missense_Mutation_p.S58T|FOLR3_ENST00000456237.1_Missense_Mutation_p.V101L			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	79					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAGTGCAGTCCCTGGAAG	0.572000													4	28					0	0	0.009096	0	0
NR5A2	2494	broad.mit.edu	37	1	200017621	200017621	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200017621G>T	ENST00000367362.3	+	5	1031	c.785G>T	c.(784-786)gGc>gTc	p.G262V	NR5A2_ENST00000544748.1_Missense_Mutation_p.G190V|NR5A2_ENST00000236914.3_Missense_Mutation_p.G216V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	262					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAAACATATGGCCACTTTCCT	0.512000													10	66					0.000978159	0.00104308	0.010729	1	0
RNF213	57674	broad.mit.edu	37	17	78265440	78265440	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78265440G>C	ENST00000582970.1	+	8	1428	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	RNF213_ENST00000508628.2_Missense_Mutation_p.D478H|RNF213_ENST00000456466.1_Missense_Mutation_p.D429H|RNF213_ENST00000319921.4_Missense_Mutation_p.D429H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	429								p.D429H(4)|p.D478H(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTGGGTCATGACCGCGTTCT	0.408000													22	85					0	0	0.014323	0	0
SOS1	6654	broad.mit.edu	37	2	39278356	39278356	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39278356C>T	ENST00000426016.1	-	7	879	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SOS1_ENST00000402219.2_Missense_Mutation_p.D265N|SOS1_ENST00000395038.2_Missense_Mutation_p.D265N|SOS1_ENST00000428721.2_Missense_Mutation_p.D208N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	265	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.D265N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTACTGTATCTTCTATATGG	0.373000									Noonan syndrome				5	31					0	0	0.014758	0	0
FER1L5	90342	broad.mit.edu	37	2	97368993	97368993	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:97368993C>T	ENST00000457909.1	+	0	5104							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.I1903I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTATTTCATCCAATACAAGC	0.572000													46	120					0	0	0.036044	0	0
ACP5	54	broad.mit.edu	37	19	11687568	11687568	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11687568A>T	ENST00000592828.1	-	5	754	c.352T>A	c.(352-354)Tct>Act	p.S118T	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.S118T|ACP5_ENST00000412435.2_Missense_Mutation_p.S118T|ACP5_ENST00000433365.2_Missense_Mutation_p.S118T	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATCTGGGCAGAGACATTGCCA	0.567000													18	86					0	0	0.007413	0	0
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:36614834G>T	ENST00000311485.3	-	2	1046	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	295					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.N295K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCTATCTTGTTGTCCTCTA	0.388000									Familial Hemophagocytic Lymphohistiocytosis				40	135					9.62906e-15	1.28567e-14	0.025465	1	0
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:39448475G>A	ENST00000257408.4	+	4	2226	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	710	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G710E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCTACGGGGCGGCGCAC	0.657000													18	45					0	0	0.007413	0	0
FLI1	2313	broad.mit.edu	37	11	128634714	128634714	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:128634714G>A	ENST00000281428.8	+	1	30	c.30G>A	c.(28-30)gcG>gcA	p.A10A	FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.1_Intron|FLI1_ENST00000344954.6_Intron|FLI1_ENST00000429175.2_Intron|FLI1_ENST00000527767.2_Intron	NM_001271010.1	NP_001257939.1	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	76					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCGAGCGGGCGAGGTATGGCT	0.652000			T	EWSR1	Ewing sarcoma								3	8					0	0	0.014758	0	0
PLS1	5357	broad.mit.edu	37	3	142388273	142388273	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:142388273G>T	ENST00000337777.3	+	3	325	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	PLS1_ENST00000457734.2_Missense_Mutation_p.D38Y|PLS1_ENST00000497002.1_Missense_Mutation_p.D38Y	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D38Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGAACTTCAAGACCTGTTTAA	0.368000													7	40					2.0095e-06	2.31927e-06	0.029380	1	0
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:73962875A>C	ENST00000358602.4	-	27	5252	c.5136T>G	c.(5134-5136)cgT>cgG	p.R1712R	ANKRD17_ENST00000330838.6_Silent_p.R1461R|ANKRD17_ENST00000509867.2_Silent_p.R1599R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.R1712R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTTGCCCACGCTTAGGAC	0.388000													49	65					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77617456G>T	ENST00000521891.2	+	2	1581	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G378V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G378V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G378V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCCGGCTGGCTTTGCCTTC	0.522000										HNSCC(33;0.089)			11	40					5.50884e-06	6.277e-06	0.013537	1	0
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76216217A>T	ENST00000370841.4	+	10	1368	c.931A>T	c.(931-933)Aag>Tag	p.K311*	ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000420607.2_Nonsense_Mutation_p.K315*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.K344*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.K122*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.K275*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	311					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.K311*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AACTTTCGGAAAGCTACTTGT	0.333000													6	11					0	0	0.021553	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128651782G>A	ENST00000281154.4	+	1	250	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	28					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.G28R(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCTGGCCGGCGGAGTCGCGGC	0.602000													39	36					0	0	0.030466	0	0
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56138681G>T	ENST00000319441.4	+	6	1023	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A155S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	287					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A287S(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542000													38	88					3.21399e-22	4.47083e-22	0.021022	1	0
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75565368G>C	ENST00000299641.4	-	9	2324	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512000													5	37					0	0	0.014758	0	0
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:236918345C>T	ENST00000366578.4	+	17	2167	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ACTN2_ENST00000542672.1_Silent_p.I667I|ACTN2_ENST00000546208.1_Silent_p.I161I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	667					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.I667I(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCCAGATCACAGGAGCCC	0.557000													26	121					0	0	0.024334	0	0
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:121098917G>A	ENST00000453000.1	+	5	1303	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CABP1_ENST00000316803.3_Missense_Mutation_p.R328Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R125Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R185Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	328	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.R185Q(2)|p.R328Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGAGCTGCGAGAGGCTATG	0.542000													13	39					0	0	0.016723	0	0
C12orf44	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52467573A>G	ENST00000336854.4	+	3	617	c.139A>G	c.(139-141)Att>Gtt	p.I47V		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	47				I -> T (in Ref. 1; BAB13907).	autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	p.I47V(3)		endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACCTACTCCATTGGCACCGT	0.587000													17	31					0	0	0.028581	0	0
JAK1	3716	broad.mit.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65321352C>G	ENST00000342505.4	-	11	1736	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGAAAGTTCTTGAACTGCT	0.502000			Mis		ALL								4	18					0	0	0.014758	0	0
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:4747357T>C	ENST00000545990.2	-	4	530	c.6A>G	c.(4-6)tcA>tcG	p.S2S	AKAP3_ENST00000228850.1_Silent_p.S2S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S2S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAACCTTTTCTGACATCTGGA	0.428000													13	37					0	0	0.013537	0	0
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:99997442C>T	ENST00000520429.1	-	9	985	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CCNC_ENST00000523985.1_Silent_p.V95V|CCNC_ENST00000523799.1_Silent_p.V95V|CCNC_ENST00000520371.1_Silent_p.V180V|CCNC_ENST00000518714.1_Silent_p.V180V|CCNC_ENST00000369220.4_Silent_p.V179V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	180					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.V180V(2)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGTATCATTCACTATCCTCC	0.363000													4	7					0	0	0.009096	0	0
EEPD1	80820	broad.mit.edu	37	7	36336752	36336752	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36336752T>C	ENST00000242108.4	+	7	2184	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P	EEPD1_ENST00000534978.1_Missense_Mutation_p.L489P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	489					DNA repair		DNA binding	p.L489P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCGAAGTCTCTGGACAACATC	0.463000													3	23					0	0	0.009096	0	0
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:169632775G>T	ENST00000366787.3	-	13	2165	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	639	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.A639D(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCGTCTTGGCTGCTTCCAG	0.597000													41	55					5.48756e-27	7.75416e-27	0.011902	1	0
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31011704C>T	ENST00000409316.1	+	4	481	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.F197F|GHRHR_ENST00000409904.3_Silent_p.F133F			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	235					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.F197F(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACTGCAGCTTCTCCACTGTAA	0.582000													10	29					0	0	0.008291	0	0
PANK4	55229	broad.mit.edu	37	1	2451331	2451331	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:2451331C>T	ENST00000378466.3	-	6	774	c.762G>A	c.(760-762)gtG>gtA	p.V254V	PANK4_ENST00000435556.3_Silent_p.V215V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	254					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.V254V(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGACGTCCCGCACCAGCATGT	0.682000													6	5					0	0	0.021553	0	0
CEP152	22995	broad.mit.edu	37	15	49059596	49059596	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49059596C>T	ENST00000380950.2	-	16	2270	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CEP152_ENST00000325747.5_Missense_Mutation_p.A602T|CEP152_ENST00000399334.3_Missense_Mutation_p.A695T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	695					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGCTTTGCTAATAGGCTT	0.438000													7	15					0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110457536G>A	ENST00000378402.5	+	38	5542	c.5438G>A	c.(5437-5439)aGt>aAt	p.S1813N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1813	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1815N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTGTTAGTGTTGTGGTG	0.468000										HNSCC(38;0.096)			13	33					0	0	0.016723	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241439489C>A	ENST00000391987.1	-	15	2791	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E588*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E585*|ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E579*|ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E570*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E809*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E711*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E898*			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							zinc ion binding	p.E809*(2)|p.E585*(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGAACGTCTCGCGCTCTGCT	0.677000													13	16					2.27111e-07	2.68182e-07	0.013537	1	0
MYH4	4622	broad.mit.edu	37	17	10361031	10361031	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10361031A>G	ENST00000255381.2	-	16	1713	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	535	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S535P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTAGGATGGAGAAGATGCCC	0.403000													7	38					0	0	0.029380	0	0
EP400	57634	broad.mit.edu	37	12	132546780	132546780	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:132546780C>T	ENST00000333577.4	+	47	8227	c.8118C>T	c.(8116-8118)gtC>gtT	p.V2706V	EP400_ENST00000389562.2_Silent_p.V2669V|EP400_ENST00000330386.6_Silent_p.V2589V|EP400_ENST00000332482.4_Silent_p.V2633V|EP400_ENST00000389561.2_Silent_p.V2670V			Q96L91	EP400_HUMAN	E1A binding protein p400	2706	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2669V(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)		TTCGAGCGGTCACTTCTGTGA	0.662000													14	95					0	0	0.016723	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:21971203A>C	ENST00000579755.1	-	2	490	c.198T>G	c.(196-198)caT>caG	p.H66Q	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.H66Q|CDKN2A_ENST00000494262.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000578845.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000498628.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H107Q|CDKN2A_ENST00000497750.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000304494.5_Missense_Mutation_p.M52R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M52R			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> Y (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M52K(4)|p.M52R(4)|p.M52fs*2(3)|p.H107Q(2)|p.0(1)|p.V28_V51del(1)|p.H107fs*>68(1)|p.M52fs*68(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCATCATCATGACCTGCCA	0.672000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	9					0	0	0.008291	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357336	49357336	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49357336C>G	ENST00000263265.6	-	11	1659	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	PLEKHA4_ENST00000355496.5_Silent_p.L343L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	368						cytoplasm|membrane	1-phosphatidylinositol binding	p.L368L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ACAACTTGGTCAGCAGCGTCT	0.617000													4	51					0	0	0.009096	0	0
DNAH1	25981	broad.mit.edu	37	3	52429689	52429689	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52429689G>T	ENST00000420323.2	+	70	11515	c.11254G>T	c.(11254-11256)Gac>Tac	p.D3752Y		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3817	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3752Y(1)|p.D3816Y(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCAACCCCGACAAGGTGTG	0.562000													5	12					1.23904e-05	1.39404e-05	0.014758	1	0
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43223121C>T	ENST00000255226.6	+	9	1967	c.1151C>T	c.(1150-1152)gCa>gTa	p.A384V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A384V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	384						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A384V(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACATGGAAGCAGCCATCTCC	0.542000													8	27					0	0	0.004482	0	0
SCRN3	79634	broad.mit.edu	37	2	175260500	175260500	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175260500A>T	ENST00000409673.3	+	1	28	c.16A>T	c.(16-18)Act>Tct	p.T6S	SCRN3_ENST00000272732.6_5'UTR			Q0VDG4	SCRN3_HUMAN	secernin 3	12					proteolysis		dipeptidase activity	p.T6S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TCCACTGGCCACTCCTCCCTC	0.612000													9	6					0	0	0.004482	0	0
CES4A	283848	broad.mit.edu	37	16	67034819	67034819	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:67034819C>G	ENST00000540947.2	+	4	646	c.462C>G	c.(460-462)ggC>ggG	p.G154G	CES4A_ENST00000535696.1_Silent_p.G56G|CES4A_ENST00000398354.1_Silent_p.G154G|CES4A_ENST00000326686.5_Silent_p.G154G|CES4A_ENST00000541479.1_Silent_p.G177G|CES4A_ENST00000540579.1_Silent_p.G56G|CES4A_ENST00000338718.4_Silent_p.G177G	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	154						extracellular region	carboxylesterase activity	p.G154G(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CGTACGAGGGCTCTGACTTGG	0.662000													11	17					0	0	0.010729	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60699590G>T	ENST00000005286.4	+	7	1503	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q449H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	449						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q450H(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAACACACAGGTCCTGCAGG	0.622000													26	53					9.57634e-11	1.2151e-10	0.018920	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530479	140530479	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140530479T>A	ENST00000231136.1	+	1	641	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L78Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L214Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGCGCTGGATGGCGGG	0.597000													20	46					0	0	0.008871	0	0
HRH2	3274	broad.mit.edu	37	5	175111256	175111256	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:175111256G>C	ENST00000231683.2	+	1	2793	c.1020G>C	c.(1018-1020)ctG>ctC	p.L340L	HRH2_ENST00000377291.2_Silent_p.L340L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	340					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGAAACCCCTGAAGCTCCAGG	0.592000													9	102					0	0	0.006214	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14939210C>T	ENST00000313519.5	+	2	594	c.363C>T	c.(361-363)atC>atT	p.I121I	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.I181I	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	181					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	p.I121I(1)|p.I181I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTCCTGGAATCAGCTTAGTCA	0.363000													12	57					0	0	0.010729	0	0
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599589T>G	ENST00000403807.3	+	2	417	c.278T>G	c.(277-279)gTg>gGg	p.V93G	VPREB1_ENST00000302273.2_Missense_Mutation_p.V92G			P12018	VPREB_HUMAN	pre-B lymphocyte 1	93	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.V93G(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCAAAGATGTGGCCAGGAAC	0.592000													33	58					0	0	0.010818	0	0
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211047G>A	ENST00000375437.2	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1089K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTCGTGGATGAAAGTGATTA	0.373000													8	40					0	0	0.004482	0	0
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:15517098G>C	ENST00000382020.4	+	4	717	c.509G>C	c.(508-510)aGa>aCa	p.R170T	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.R170T|TUSC3_ENST00000506802.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503731.1_Missense_Mutation_p.R170T	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	170					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R170T(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GACCTCCAAAGAATTGGATTT	0.393000													5	15					0	0	0.029380	0	0
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:217234937C>T	ENST00000273067.4	-	1	1813	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	16						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.C16Y(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGCCGGAGCAGCAGCACCA	0.617000													10	14					0	0	0.006214	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205667	36205667	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36205667C>T	ENST00000392197.2	+	3	457	c.139C>T	c.(139-141)Cta>Tta	p.L47L	ZBTB32_ENST00000262630.3_Silent_p.L47L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	47	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.L47L(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGTGCTAGCAGGTGT	0.622000													16	87					0	0	0.028581	0	0
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14077445C>T	ENST00000254325.4	-	13	2085	c.1851_splice	c.e13+1	p.E617_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	617					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E617E(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCACCCTACCTCACAGTGTT	0.677000													26	39					0	0	0.027356	0	0
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:48758546A>C	ENST00000218224.4	+	2	401	c.147A>C	c.(145-147)ccA>ccC	p.P49P	PQBP1_ENST00000376548.5_Silent_p.P49P|PQBP1_ENST00000376563.1_Silent_p.P49P|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376566.4_Silent_p.P49P|PQBP1_ENST00000247140.4_Silent_p.P49P|PQBP1_ENST00000396763.1_Silent_p.P49P|PQBP1_ENST00000447146.2_Silent_p.P49P	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	p.P49P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AGGGCCTACCACCAAGCTGGT	0.557000													4	7					0	0	0.009096	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:24359024G>T	ENST00000175238.6	+	20	2226	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G487*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G715*|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000													9	16					0.000442599	0.000476953	0.006214	1	0
LINC01098	285501	broad.mit.edu	37	4	178897030	178897030	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:178897030C>T	ENST00000507870.1	+	5	695	c.233C>T	c.(232-234)tCa>tTa	p.S78L															p.S78L(4)		lung(8)|prostate(1)	9						TTGAGCAAGTCAATGTATGTT	0.403000													11	33					0	0	0.013537	0	0
UBR4	23352	broad.mit.edu	37	1	19404343	19404343	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:19404343T>C	ENST00000375267.2	-	105	15328		c.e105-2		UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375225.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000429347.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTTTGTTTCTAGGAAAAAAG	0.517000													4	3					0	0	0.009096	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717313G>T	ENST00000279593.3	-	13	3068	c.2859C>A	c.(2857-2859)ccC>ccA	p.P953P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	953					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P953P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTCCTCACAGGGCGGGTTGT	0.547000													19	59					8.28177e-16	1.11515e-15	0.007413	1	0
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56949837G>C	ENST00000497933.1	+	1	617	c.470G>C	c.(469-471)cGc>cCc	p.R157P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127						integral to membrane		p.R157P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGCCAAGCGCTTGGCACAC	0.577000													9	26					0	0	0.004482	0	0
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:135651315G>T	ENST00000513104.1	-	3	1215	c.933C>A	c.(931-933)atC>atA	p.I311I	TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	311					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.I311I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCGAGTTTGATCCGGCTCA	0.517000													6	21					5.18039e-06	5.92637e-06	0.003080	1	0
USP1	7398	broad.mit.edu	37	1	62910485	62910485	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:62910485C>G	ENST00000339950.4	+	6	1449	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	USP1_ENST00000371146.1_Missense_Mutation_p.Q212E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	212					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q212E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAAACATTCAAGAAACATG	0.338000													5	29					0	0	0.014758	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54675174C>G	ENST00000546500.1	+	2	635	c.20C>G	c.(19-21)cCt>cGt	p.P7R	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P7R|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P7R|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P7R			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.P7R(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTCTAGTCTCCTAAAGAGCCC	0.483000													19	38					0	0	0.007413	0	0
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31538717G>A	ENST00000286808.3	-	1	254	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	73					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L73L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGCAGGCGGGAGAGCCAACA	0.552000													12	55					0	0	0.013537	0	0
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:31425212T>G	ENST00000373747.3	-	16	2694		c.e16-2		PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000440538.2_Splice_Site|PUM1_ENST00000257075.5_Splice_Site|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000423018.2_Splice_Site	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGAATGAATCTGAAGTACAAA	0.473000													21	37					0	0	0.010504	0	0
UFL1	23376	broad.mit.edu	37	6	96997630	96997630	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:96997630G>T	ENST00000369278.4	+	15	1839	c.1773G>T	c.(1771-1773)tcG>tcT	p.S591S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									TCTTAGCTTCGGATTTAATGA	0.398000													10	17					4.84862e-15	6.49206e-15	0.010729	1	0
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21723442G>A	ENST00000328843.6	+	33	5553	c.5522G>A	c.(5521-5523)cGt>cAt	p.R1841H	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443000									Kartagener syndrome				13	137					0	0	0.024245	0	0
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30667605G>C	ENST00000534862.1	+	7	760	c.397G>C	c.(397-399)Gac>Cac	p.D133H	HCK_ENST00000520553.1_Missense_Mutation_p.D132H|HCK_ENST00000375862.2_Missense_Mutation_p.D152H|HCK_ENST00000375852.2_Missense_Mutation_p.D153H|HCK_ENST00000518730.1_Missense_Mutation_p.D131H|HCK_ENST00000538448.1_Missense_Mutation_p.D132H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	153	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D153H(2)|p.D132H(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCCGGAAGGACGCAGAGCG	0.587000													10	26					0	0	0.010729	0	0
STK11IP	114790	broad.mit.edu	37	2	220473349	220473349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:220473349G>T	ENST00000456909.1	+	15	1738	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.E561*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGGCCTGAGGGCGTACG	0.607000													10	72					5.50884e-06	6.277e-06	0.013537	1	0
HGD	3081	broad.mit.edu	37	3	120352002	120352002	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:120352002C>A	ENST00000283871.5	-	13	1639	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	394					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.G394C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCATGGTGCCATCGGCAATC	0.542000													6	29					5.9392e-07	6.92745e-07	0.021553	1	0
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	T	G	rs142691296		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57958297T>G	ENST00000325752.3	-	4	772	c.495A>C	c.(493-495)tcA>tcC	p.S165S	TUBD1_ENST00000376094.4_Silent_p.S165S|TUBD1_ENST00000592426.1_Silent_p.S165S|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000340993.6_Silent_p.S165S|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Silent_p.S165S	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.S165S(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTTTCAATGAGTTTGAGT	0.343000													54	99					0	0	0.014410	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828349	94828349	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:94828349C>T	ENST00000285949.5	+	6	1464	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	488					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.A488A(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCACACCCGCCTTCCCCGCCA	0.692000													4	7					0	0	0.009096	0	0
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70681521T>G	ENST00000377844.4	-	1	1070	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	104					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q104P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCCCTTGCTGCAGCCTCGT	0.597000													32	23					0	0	0.009535	0	0
ZNF713	349075	broad.mit.edu	37	7	55990965	55990965	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55990965G>C	ENST00000429591.2	+	2	197	c.159G>C	c.(157-159)agG>agC	p.R53S	MRPS17_ENST00000426595.1_Missense_Mutation_p.R53S|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGAACTACAGGAATCTAGTTG	0.512000													23	50					0	0	0.024334	0	0
CTSK	1513	broad.mit.edu	37	1	150772099	150772099	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150772099C>T	ENST00000271651.3	-	6	815	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	235					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	p.L235L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCTCTTCAGGGCTTTCT	0.517000													5	130					0	0	0.014758	0	0
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22807148G>T	ENST00000361524.3	-	4	882	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ZNF521_ENST00000538137.2_Missense_Mutation_p.T245N|ZNF521_ENST00000584787.1_Missense_Mutation_p.T25N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.T245N(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACTTCTGAGTGTCCTTCAT	0.532000			T	PAX5	ALL								20	36					3.5997e-14	4.77511e-14	0.014323	1	0
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:75107651G>A	ENST00000290573.2	+	10	2125	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	HK2_ENST00000409174.1_Missense_Mutation_p.V481I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAGTGCCCCCGTCAAGATGCT	0.597000													14	35					0	0	0.020292	0	0
TTN	7273	broad.mit.edu	37	2	179640848	179640848	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179640848C>G	ENST00000589042.1	-	28	5967	c.5743G>C	c.(5743-5745)Gaa>Caa	p.E1915Q	TTN_ENST00000359218.5_Missense_Mutation_p.E1869Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1869Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1915Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1869Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1915Q|TTN_ENST00000591111.1_Missense_Mutation_p.E1915Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1633	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1915Q(3)|p.E1869Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGATTTTCCGCGGTGACC	0.463000													34	206					0	0	0.013726	0	0
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:31089993C>T	ENST00000359202.3	-	1	177	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627000													17	45					0	0	0.033300	0	0
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:193364866A>G	ENST00000361510.2	+	19	2001	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	OPA1_ENST00000361828.2_Silent_p.L552L|OPA1_ENST00000392438.3_Silent_p.L534L|OPA1_ENST00000361150.2_Silent_p.L535L|OPA1_ENST00000361715.2_Silent_p.L553L|OPA1_ENST00000361908.3_Silent_p.L571L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	534			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.L589L(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAGCATGCTAAAGGCACACC	0.368000													20	13					0	0	0.012319	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886918	47886918	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:47886918G>C	ENST00000396105.1	-	3	1677	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	ZNFX1_ENST00000371752.1_Silent_p.L477L|ZNFX1_ENST00000371754.4_Silent_p.L477L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	477							metal ion binding	p.L477L(2)|p.L281L(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTCGGCAGAGATCTTCCT	0.483000													13	88					0	0	0.016723	0	0
TTLL4	9654	broad.mit.edu	37	2	219619112	219619112	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219619112A>G	ENST00000392102.1	+	20	3940	c.3600A>G	c.(3598-3600)taA>taG	p.*1200*	TTLL4_ENST00000442769.1_Silent_p.*1136*|TTLL4_ENST00000258398.4_Silent_p.*1200*|TTLL4_ENST00000457313.1_3'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	0					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGCCCATAACTGGCCTCTC	0.552000													5	105					0	0	0.021553	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475993	25475993	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:25475993G>T	ENST00000453082.2	+	0	1523				SNORD115-33_ENST00000363723.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCG	0.537000													21	98					3.62473e-10	4.52696e-10	0.012319	1	0
NCAM1	4684	broad.mit.edu	37	11	113103046	113103046	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113103046C>G	ENST00000316851.7	+	10	1365	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I464M|NCAM1_ENST00000533760.1_Missense_Mutation_p.I337M	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	465	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.I464M(2)|p.I455M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATATCAAGATCTACAACACCC	0.527000													6	52					0	0	0.029380	0	0
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30232608G>C	ENST00000376075.3	+	5	492	c.417G>C	c.(415-417)cgG>cgC	p.R139R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGACGAGCGGAAAGCCCAGC	0.582000													10	43					0	0	0.008291	0	0
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143928027C>T	ENST00000220940.1	+	4	488	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	133	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P133L(3)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGCTTCCAGAAGGAACT	0.463000													14	43					0	0	0.016723	0	0
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5463332C>T	ENST00000345221.3	-	4	1238	c.684G>A	c.(682-684)gaG>gaA	p.E228E	NLRP1_ENST00000572272.1_Silent_p.E228E|NLRP1_ENST00000262467.5_Silent_p.E228E|NLRP1_ENST00000269280.4_Silent_p.E228E|NLRP1_ENST00000577119.1_Silent_p.E228E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.E228E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488000													6	27					0	0	0.021553	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1																						CCTTTGTGTCCCCTTTGGCTT	0.532000													11	10					0	0	0.010729	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199455	71199455	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71199455G>C	ENST00000554752.2	-	11	2630	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	MAP3K9_ENST00000554146.1_Missense_Mutation_p.H605Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.H891Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.H610Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.H854Q			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	877	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCAGGGGGTTGTGGGTACATG	0.592000													4	155					0	0	0.014758	0	0
SDK2	54549	broad.mit.edu	37	17	71427711	71427711	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71427711C>T	ENST00000392650.3	-	11	1410	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	SDK2_ENST00000388726.3_Silent_p.A470A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	470	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)|p.A470A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGTAGGTCCCCGCATCGGAGA	0.632000													54	178					0	0	0.014410	0	0
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53042001C>A	ENST00000309680.3	-	5	1099	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572000													40	81					1.59361e-14	2.11987e-14	0.027894	1	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				5	20					0	0	0.021553	0	0
MNAT1	4331	broad.mit.edu	37	14	61201638	61201638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:61201638A>T	ENST00000261245.4	+	1	159	c.58A>T	c.(58-60)Aag>Tag	p.K20*	MNAT1_ENST00000539616.2_Nonsense_Mutation_p.K20*|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	20					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.K20*(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CCCCTCCTTGAAGCTGATGGT	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					10	68					0	0	0.006214	0	0
RBM47	54502	broad.mit.edu	37	4	40440598	40440598	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40440598C>G	ENST00000319592.4	-	4	1022	c.313G>C	c.(313-315)Gac>Cac	p.D105H	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.D67H|RBM47_ENST00000381795.6_Missense_Mutation_p.D105H|RBM47_ENST00000381793.2_Missense_Mutation_p.D105H|RBM47_ENST00000295971.7_Missense_Mutation_p.D105H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	105	RRM 1.					nucleus	nucleotide binding|RNA binding	p.D105H(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGTCAAAGTCCATCATGAGG	0.632000													12	61					0	0	0.020292	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796998	42796998	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:42796998C>T	ENST00000314073.5	+	6	1103	c.927C>T	c.(925-927)gtC>gtT	p.V309V	GLTSCR1L_ENST00000394168.1_Silent_p.V309V					GLTSCR1-like																		CAAATAAAGTCCCAATTAATA	0.388000													16	121					0	0	0.028581	0	0
WNK2	65268	broad.mit.edu	37	9	96025976	96025976	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:96025976G>T	ENST00000297954.4	+	14	3539	c.3539G>T	c.(3538-3540)cGg>cTg	p.R1180L	WNK2_ENST00000349097.3_Missense_Mutation_p.R792L|WNK2_ENST00000395477.2_Missense_Mutation_p.R1180L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.R792L|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1180					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.R1180L(1)|p.R1166L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCGCGCTCCCGGCAGGAGAGG	0.701000													3	3					0.004672	0.00485888	0.004672	1	0
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31901508G>A	ENST00000469372.1	+	2	280	c.59G>A	c.(58-60)aGc>aAc	p.S20N	CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Silent_p.E188E|C2_ENST00000442278.2_Silent_p.E56E|CFB_ENST00000456570.1_Silent_p.E126E|CFB_ENST00000556679.1_Silent_p.E126E|C2_ENST00000452323.2_Silent_p.E65E|C2_ENST00000299367.5_Silent_p.E188E					complement component 2									p.E188E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTTCGGAGCGGGAGTGCC	0.647000													41	40					0	0	0.033182	0	0
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113286152A>T	ENST00000362072.3	-	5	1058	c.714T>A	c.(712-714)gcT>gcA	p.A238A	DRD2_ENST00000544518.1_Silent_p.A237A|DRD2_ENST00000542968.1_Silent_p.A238A|DRD2_ENST00000355319.2_Silent_p.A238A|DRD2_ENST00000538967.1_Silent_p.A238A|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Silent_p.A238A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	238	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTTAGTGGAGCCCTCAGGT	0.572000													24	109					0	0	0.018920	0	0
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248059305G>T	ENST00000537741.1	+	3	674	c.417G>T	c.(415-417)agG>agT	p.R139S	OR2W3_ENST00000360358.3_Missense_Mutation_p.R139S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAACCCCAGGCTCTGCCGGG	0.627000													43	38					4.32679e-17	5.89268e-17	0.027894	1	0
OR10A4	283297	broad.mit.edu	37	11	6897968	6897968	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6897968C>T	ENST00000379829.2	+	1	113	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGTTTCTCCTTTTCTTGA	0.443000													17	99					0	0	0.028581	0	0
BCL11B	64919	broad.mit.edu	37	14	99642483	99642483	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:99642483G>A	ENST00000345514.2	-	3	743	c.477C>T	c.(475-477)ttC>ttT	p.F159F	BCL11B_ENST00000443726.2_Silent_p.F36F|BCL11B_ENST00000357195.3_Silent_p.F230F	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	230						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACGCGCTGTTGAAGGGCTGCT	0.622000			T	TLX3	T-ALL								8	26					0	0	0.003080	0	0
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219000386C>A	ENST00000318507.2	+	3	1289	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592000													69	61					2.32099e-22	3.2349e-22	0.014410	1	0
ZNF548	147694	broad.mit.edu	37	19	57910783	57910783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57910783C>G	ENST00000366197.5	+	3	1378	c.1128C>G	c.(1126-1128)taC>taG	p.Y376*	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Y388*	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y388*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTAGGTACAACTCCAGCC	0.403000													3	18					0	0	0.004672	0	0
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	C	G	rs12298510		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:21981911C>G	ENST00000261200.4	-	29	3649	c.3650G>C	c.(3649-3651)aGa>aCa	p.R1217T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1181T|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1217T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1217	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1217T(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCAGCCATCTGTTGGCAGC	0.418000													10	33					0	0	0.010729	0	0
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000369054.2_Missense_Mutation_p.E199K|TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000438568.2_Missense_Mutation_p.R157K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532000													17	129					0	0	0.006122	0	0
TTLL4	9654	broad.mit.edu	37	2	219617846	219617846	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219617846C>T	ENST00000392102.1	+	18	3536	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	TTLL4_ENST00000442769.1_Silent_p.L1002L|TTLL4_ENST00000258398.4_Silent_p.L1066L|TTLL4_ENST00000457313.1_Silent_p.L901L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1066					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGAGTAGATCTGCTCCGGAG	0.498000													8	386					0	0	0.004482	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:55407437C>A	ENST00000341048.4	-	10	1289	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ANKRD55_ENST00000434982.2_Missense_Mutation_p.D92Y|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D337Y	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	379								p.D380Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTGATGATGTCATTGACTTCT	0.463000													37	187					9.62906e-15	1.28567e-14	0.025465	1	0
NIN	51199	broad.mit.edu	37	14	51226916	51226916	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:51226916G>C	ENST00000245441.5	-	17	2248	c.2058C>G	c.(2056-2058)ctC>ctG	p.L686L	NIN_ENST00000324330.9_Silent_p.L686L|NIN_ENST00000382043.4_Silent_p.L686L|NIN_ENST00000453196.1_Silent_p.L686L|NIN_ENST00000530997.2_Silent_p.L686L|NIN_ENST00000389868.3_Silent_p.L686L|NIN_ENST00000382041.3_Silent_p.L686L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	686					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGCCTCCTTGAGCACTGCTG	0.458000			T	PDGFRB	MPD								7	166					0	0	0.029380	0	0
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3726108G>A	ENST00000252505.3	+	4	297	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64							allantoicase activity	p.W45*(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGAAATGGATGGATGGCT	0.463000										HNSCC(21;0.051)			14	9					0	0	0.020292	0	0
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463000													20	111					0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:168106754G>T	ENST00000409195.1	+	9	8941	c.8852G>T	c.(8851-8853)cGt>cTt	p.R2951L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2951L|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2729L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2776					actin cytoskeleton organization	cell junction	actin binding	p.R2951L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAGAAAACGTGAAGAACTG	0.373000													45	40					2.68985e-26	3.78964e-26	0.014410	1	0
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:8425882G>A	ENST00000337907.3	-	14	2071	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	RERE_ENST00000400907.2_Silent_p.S479S|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.S211S|RERE_ENST00000400908.2_Silent_p.S479S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	479					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S479S(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGAATTCACTGGACGGGGGTC	0.637000													28	38					0	0	0.037714	0	0
DST	667	broad.mit.edu	37	6	56483314	56483314	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:56483314G>T	ENST00000370765.6	-	23	5625	c.5518C>A	c.(5518-5520)Cgt>Agt	p.R1840S	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413000													43	53					2.13384e-23	2.9857e-23	0.014410	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535364	90535364	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:90535364C>G	ENST00000602681.1	+	0	1268																											GCCTCCACCCCACCACCAGGC	0.607000													67	104					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105408231G>A	ENST00000333244.5	-	7	13676	c.13557C>T	c.(13555-13557)gaC>gaT	p.D4519D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus		p.D4519D(2)		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)			GGACCTCCAGGTCGGCGGAAG	0.622000													33	136					0	0	0.010818	0	0
MAZ	4150	broad.mit.edu	37	16	29819948	29819948	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:29819948G>A	ENST00000219782.6	+	4	1271	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MAZ_ENST00000545521.1_Missense_Mutation_p.E366K|MAZ_ENST00000562337.1_Missense_Mutation_p.E84K|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Missense_Mutation_p.E389K|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000568282.1_5'UTR	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	389					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.E389K(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTACGACACGAGGAGAAAGT	0.582000													3	25					0	0	0.004672	0	0
LILRP2	79166	broad.mit.edu	37	19	55221965	55221965	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55221965G>A	ENST00000413439.1	+	0	1492																											TGACCCTGCTGTGTCAGTCAC	0.622000													12	58					0	0	0.016723	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:78651442C>G	ENST00000286627.5	-	25	3961	c.3009G>C	c.(3007-3009)cgG>cgC	p.R1003R	KCNMA1_ENST00000372443.1_Silent_p.R1030R|KCNMA1_ENST00000354353.5_Silent_p.R1064R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.R1065R|KCNMA1_ENST00000404771.3_Silent_p.R1061R|KCNMA1_ENST00000404857.1_Silent_p.R1044R|KCNMA1_ENST00000286628.8_Silent_p.R1061R|KCNMA1_ENST00000372440.1_Silent_p.R1003R|RP11-443A13.5_ENST00000595702.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1003R(2)|p.R1065R(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCACCAGGGTCCGTATCAGGG	0.542000													14	38					0	0	0.020292	0	0
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45004705A>T	ENST00000429094.2	-	14	1997	c.1493T>A	c.(1492-1494)tTa>tAa	p.L498*	NELL2_ENST00000437801.2_Nonsense_Mutation_p.L548*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.L497*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.L521*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.L498*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	498	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.L548*(2)|p.L498*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTGAAGCATAAAGCATTTTC	0.388000													21	34					0	0	0.012319	0	0
MRPL45	84311	broad.mit.edu	37	17	36453205	36453205	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:36453205G>T	ENST00000312513.5	+	1	217	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	19					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	p.W19L(2)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGCTGGTGGTTTCGGCAG	0.572000													14	57					1.15088e-07	1.37146e-07	0.028581	1	0
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156554719G>T	ENST00000368236.3	+	7	1338	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	TTC24_ENST00000368237.3_Missense_Mutation_p.E434D|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434							binding	p.E434D(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGCGGAGGGGACCCCAG	0.612000													9	4					1.76689e-08	2.14669e-08	0.006214	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110030427	110030427	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110030427G>A	ENST00000369870.3	+	5	715		c.e5+1			NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2									p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGATGGCTCGTGAGTAGTTG	0.592000													4	49					0	0	0.009096	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443757	74443757	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:74443757C>A	ENST00000339953.5	-	11	1352	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	411	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCCCATGGCAGCACTCAGC	0.632000													4	55					8.12818e-05	8.91358e-05	0.029380	1	0
IBA57	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228363178A>G	ENST00000366711.3	+	3	1037	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	IBA57_ENST00000546123.1_Silent_p.A152A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTAGCCGCATCTGTGCCAG	0.647000													62	86					0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108315484	108315484	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:108315484A>G	ENST00000520734.1	-	4	605	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.M106T			Q15389	ANGP1_HUMAN	angiopoietin 1	307					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.M307T(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGGTTCTGGCATATTATTAAT	0.348000													3	24					0	0	0.004672	0	0
EPHA7	2045	broad.mit.edu	37	6	94068026	94068026	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:94068026A>C	ENST00000369303.4	-	4	1120	c.936T>G	c.(934-936)tgT>tgG	p.C312W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	312	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C312W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCCATCTTCACATTCACATC	0.458000													4	20					0	0	0.009096	0	0
ZNF407	55628	broad.mit.edu	37	18	72346391	72346391	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:72346391C>G	ENST00000299687.5	+	1	3416	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C	ZNF407_ENST00000577538.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1139C|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1139C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1139C(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAGATATGTCTAAAGTGCTC	0.358000													6	27					0	0	0.021553	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870200	36870200	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36870200G>A	ENST00000279024.4	-	3	604	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCCTCCTGGGGCTCCACTT	0.557000													19	102					0	0	0.007413	0	0
KRT23	25984	broad.mit.edu	37	17	39092742	39092742	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39092742C>A	ENST00000209718.3	-	2	538	c.114G>T	c.(112-114)gcG>gcT	p.A38A	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	38	Head.					intermediate filament	structural molecule activity	p.A38A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCTCCCCCCGCACCGCCAT	0.697000													31	59					1.13719e-10	1.44037e-10	0.037714	1	0
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37098576C>T	ENST00000300105.6	-	1	1027	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	16					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G16S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGAAAGCACCAACGGTGGTT	0.473000													41	79					0	0	0.027894	0	0
KCNB2	9312	broad.mit.edu	37	8	73480521	73480521	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:73480521G>C	ENST00000523207.1	+	2	1140	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	184					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E184D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGCTGGAGAAACCTAACT	0.458000													8	59					0	0	0.003080	0	0
SYK	6850	broad.mit.edu	37	9	93650153	93650153	+	Nonsense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:93650153T>G	ENST00000375754.4	+	12	1852	c.1704T>G	c.(1702-1704)taT>taG	p.Y568*	SYK_ENST00000375747.1_Nonsense_Mutation_p.Y545*|SYK_ENST00000375751.4_Nonsense_Mutation_p.Y545*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Y568*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	568	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CATTCTCCTATGGGCAGAAGC	0.468000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								8	95					0	0	0.016723	0	0
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166930006T>A	ENST00000423058.2	-	1	143	c.126A>T	c.(124-126)aaA>aaT	p.K42N	SCN1A_ENST00000375405.3_Missense_Mutation_p.K42N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K42N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K42N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	42						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K42N(4)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCGTCATCTTTTTTGTCTG	0.443000													110	99					0	0	0.014410	0	0
NCF1B	654816	broad.mit.edu	37	7	72643792	72643792	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72643792C>A	ENST00000423083.1	+	0	406					NR_003186.1																						AGCCCCCTGCCAAGGCTCAGG	0.647000													3	6					0.000602214	0.000645552	0.014758	1	0
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N|RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	57					0	0	0.028581	0	0
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58491902G>T	ENST00000344743.3	-	2	209	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	GLYAT_ENST00000529732.1_Missense_Mutation_p.P23Q|GLYAT_ENST00000278400.3_Missense_Mutation_p.P23Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	23					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.P23Q(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAAGGATGCTGGGAGGCTCTT	0.443000													6	34					5.9392e-07	6.92745e-07	0.021553	1	0
AURKC	6795	broad.mit.edu	37	19	57744834	57744834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57744834G>T	ENST00000302804.7	+	5	628	c.442G>T	c.(442-444)Gag>Tag	p.E148*	AURKC_ENST00000415300.2_Nonsense_Mutation_p.E129*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.E145*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.E114*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	148	Protein kinase.		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E114*(1)|p.E148*(1)|p.E114Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGATAATAGAGGAGTTGGC	0.478000													13	69					2.27111e-07	2.68182e-07	0.013537	1	0
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89449995C>A	ENST00000539437.1	-	5	514	c.378G>T	c.(376-378)cgG>cgT	p.R126R	MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268151.7_Silent_p.R134R|MFGE8_ENST00000268150.8_Silent_p.R134R|MFGE8_ENST00000566497.1_Silent_p.R134R|MFGE8_ENST00000542878.1_Silent_p.R90R			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	134	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.R134R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCACATCCTCCGCAGCAGGT	0.587000													23	44					1.85244e-09	2.29748e-09	0.018920	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:140995104C>A	ENST00000285879.4	+	4	2200	c.1914C>A	c.(1912-1914)tcC>tcA	p.S638S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638							protein binding	p.S638S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATCCAGTCTTCCCC	0.567000										HNSCC(15;0.026)			69	167					1.84395e-34	2.63685e-34	0.014410	1	0
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3649416C>T	ENST00000378295.4	+	14	1839	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TP73_ENST00000604479.1_Missense_Mutation_p.R466C|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000346387.4_Missense_Mutation_p.R466C|TP73_ENST00000357733.3_Missense_Mutation_p.R481C|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378288.4_Missense_Mutation_p.R513C|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000378290.4_Missense_Mutation_p.R491C|TP73_ENST00000603362.1_Missense_Mutation_p.R481C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	562					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.R562C(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCAGCTGCTCCGCTCTAGCAA	0.682000													18	13					0	0	0.006122	0	0
UNC79	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083609C>T	ENST00000553484.1	+	29	4403	c.4249C>T	c.(4249-4251)Cgg>Tgg	p.R1417W	UNC79_ENST00000555664.1_Missense_Mutation_p.R1395W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1218W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1395W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395						integral to membrane		p.R1218W(2)|p.R1417W(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTCACATCCGGCAGATGTG	0.502000													13	46					0	0	0.016723	0	0
KCNV1	27012	broad.mit.edu	37	8	110986364	110986364	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110986364G>T	ENST00000524391.1	-	2	1286	c.254C>A	c.(253-255)cCc>cAc	p.P85H	KCNV1_ENST00000297404.1_Missense_Mutation_p.P85H|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	85						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P85H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGAGGGCTGGGCACGGCGGC	0.677000													7	16					0.0293803	0.0299671	0.029380	1	0
NABP2	79035	broad.mit.edu	37	12	56619478	56619478	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56619478G>C	ENST00000380198.2	+	3	787	c.290_splice	c.e3+1	p.E97_splice	NABP2_ENST00000267023.4_Splice_Site_p.E97_splice|NABP2_ENST00000341463.5_Splice_Site_p.E97_splice					nucleic acid binding protein 2									p.E97Q(1)									GAAGATTGGAGAGTAAGTGCT	0.488000													17	99					0	0	0.006122	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105416868C>G	ENST00000333244.5	-	7	5039	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						nucleus		p.L1640L(2)		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)			GGTCCCCCTCCAGCTGCGCAC	0.602000													56	228					0	0	0.014410	0	0
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:19785946C>T	ENST00000341998.2	-	1	980	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A307T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	307					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A307T(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTGCTTGGGCTTCTGGTGCT	0.378000													13	37					0	0	0.016723	0	0
NFKBID	84807	broad.mit.edu	37	19	36387833	36387833	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36387833T>C	ENST00000396901.1	-	5	707	c.134A>G	c.(133-135)cAg>cGg	p.Q45R	NFKBID_ENST00000352614.2_Missense_Mutation_p.Q197R|NFKBID_ENST00000606253.1_Missense_Mutation_p.Q45R	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	45					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTCCTCATCCTGGGCCAGCAG	0.637000													4	109					0	0	0.009096	0	0
SRCAP	10847	broad.mit.edu	37	16	30732216	30732216	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:30732216G>T	ENST00000262518.4	+	20	3555	c.3170G>T	c.(3169-3171)gGg>gTg	p.G1057V	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057V|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			TCACCTGCCGGGCCCCCGCTT	0.642000													14	64					1.5842e-08	1.9379e-08	0.016723	1	0
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100934574G>A	ENST00000548884.1	+	9	1585	c.1044G>A	c.(1042-1044)ttG>ttA	p.L348L	NR1H4_ENST00000549996.1_Silent_p.L301L|NR1H4_ENST00000551379.1_Silent_p.L362L|NR1H4_ENST00000188403.7_Silent_p.L358L|NR1H4_ENST00000392986.3_Silent_p.L352L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L362L(2)|p.L348L(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTGACCTATTGGAAGAAAGAA	0.423000													14	33					0	0	0.016723	0	0
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52394608G>C	ENST00000354957.3	-	5	1065	c.781C>G	c.(781-783)Cca>Gca	p.P261A	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.P233A	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTATGGTTTCTCTCCT	0.502000													18	60					0	0	0.006122	0	0
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1434L(3)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGAAACATCGATATGCCAG	0.537000													42	47					0	0	0.010771	0	0
PLXNA1	5361	broad.mit.edu	37	3	126737303	126737303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:126737303G>T	ENST00000251772.4	+	19	3827	c.3758G>T	c.(3757-3759)cGc>cTc	p.R1253L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1276L			Q9UIW2	PLXA1_HUMAN	plexin A1	1276					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCTGACCGCACACTCAAG	0.632000													8	39					0.000157383	0.000171408	0.003080	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:55024197A>G	ENST00000324000.3	+	3	2390	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	119					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N119S(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACCAAGAATAGTGTTCGG	0.333000													10	30					0	0	0.006214	0	0
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:32438301C>T	ENST00000283365.9	+	15	1684	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512000													10	47					0	0	0.010729	0	0
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1418261A>G	ENST00000345913.4	+	2	172	c.81A>G	c.(79-81)aaA>aaG	p.K27K	TPO_ENST00000337415.3_Silent_p.K27K|TPO_ENST00000382198.1_Silent_p.K27K|TPO_ENST00000382201.3_Silent_p.K27K|TPO_ENST00000382269.3_Silent_p.K27K|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Silent_p.K27K|TPO_ENST00000346956.3_Silent_p.K27K|TPO_ENST00000329066.4_Silent_p.K27K|TPO_ENST00000349624.3_Silent_p.K27K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	27					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.K27K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGAGAGGGAAAGAACTCCTTT	0.458000													15	13					0	0	0.006122	0	0
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54338891A>G	ENST00000243056.3	+	2	1000	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	282						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S282G(2)|p.S282R(1)		breast(1)|large_intestine(1)|skin(1)	3						ATACGCGGCTAGCAAGTTCAT	0.607000			T	NUP98	AML								27	109					0	0	0.027356	0	0
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:118532435G>C	ENST00000529101.1	-	6	573	c.528C>G	c.(526-528)gaC>gaG	p.D176E	TREH_ENST00000525958.1_Intron|TREH_ENST00000530256.1_Missense_Mutation_p.D53E|TREH_ENST00000264029.4_Missense_Mutation_p.D176E|TREH_ENST00000397925.1_Intron			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	176					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.D53E(2)|p.D176E(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CCCAGTAGGAGTCCCTGGGGA	0.632000													18	36					0	0	0.007413	0	0
CREB5	9586	broad.mit.edu	37	7	28848855	28848855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:28848855C>T	ENST00000357727.2	+	9	1468	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q353*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q221*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q327*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	360					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q360*(1)|p.Q221*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGCCACCCCAGCCCACAGG	0.637000													10	92					0	0	0.008291	0	0
GCK	2645	broad.mit.edu	37	7	44184835	44184835	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44184835C>T	ENST00000403799.3	-	10	1767	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	GCK_ENST00000345378.2_Missense_Mutation_p.S434N|GCK_ENST00000437084.1_Missense_Mutation_p.S416N|GCK_ENST00000395796.3_Missense_Mutation_p.S432N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.S433N(1)|p.S434N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCTCGCAGCTGGGCGTCAG	0.657000													8	18					0	0	0.003080	0	0
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:150924904C>A	ENST00000261800.5	-	9	5796	c.5784G>T	c.(5782-5784)ctG>ctT	p.L1928L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1928					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.L1928L(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGGATTCAGCACAGATA	0.478000													24	84					2.21704e-12	2.87431e-12	0.016522	1	0
IFI16	3428	broad.mit.edu	37	1	158988421	158988421	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158988421G>T	ENST00000295809.7	+	5	1207	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	IFI16_ENST00000368131.4_Missense_Mutation_p.G318W|IFI16_ENST00000430894.2_Missense_Mutation_p.G266W|IFI16_ENST00000448393.2_Missense_Mutation_p.G318W|IFI16_ENST00000359709.3_Missense_Mutation_p.G262W|IFI16_ENST00000340979.6_Missense_Mutation_p.G318W|IFI16_ENST00000368132.3_Missense_Mutation_p.G318W			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	318	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.G318W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTGTATATGGGGTATTTAT	0.338000													8	66					5.4927e-09	6.77118e-09	0.004482	1	0
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:119043108C>T	ENST00000334464.5	-	5	3375	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046					intracellular signal transduction		metal ion binding	p.E1046K(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATCAATTTCATTCTGTAGC	0.383000													16	59					0	0	0.024245	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	G	T	rs149030409		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117491979G>T	ENST00000393203.2	+	4	1145	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGTTGGCGCGGCTTGACCGT	0.577000													18	55					3.41278e-10	4.26971e-10	0.033300	1	0
CLCF1	23529	broad.mit.edu	37	11	67132763	67132763	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:67132763G>T	ENST00000312438.7	-	3	719	c.522C>A	c.(520-522)gcC>gcA	p.A174A	CLCF1_ENST00000528474.1_Silent_p.A164A|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.A164A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	174					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTCACTGTGGGCAGGGCCAG	0.637000													8	53					2.17888e-05	2.44185e-05	0.006214	1	0
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50540459G>C	ENST00000267845.3	-	10	1525	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	375					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACATGTGCTTGAAGATTCTTC	0.507000													5	11					0	0	0.021553	0	0
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:4199621C>A	ENST00000296358.4	-	5	964	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314					biomineral tissue development	extracellular space|integral to membrane		p.G314C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACTGCGCCCACCATGACC	0.577000													25	34					4.26978e-12	5.50566e-12	0.018920	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	G	T	rs77402299		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140864842G>T	ENST00000306593.1	+	1	102	c.102G>T	c.(100-102)ccG>ccT	p.P34P	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.P34P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACCCGGTCCCAGAGG	0.557000													12	51					2.27111e-07	2.68182e-07	0.013537	1	0
EFCAB13	124989	broad.mit.edu	37	17	45447856	45447856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45447856G>C	ENST00000331493.2	+	11	1270	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E191Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.E287Q(1)									TGAGCTACAGGAACAGTATGA	0.274000													3	19					0	0	0.004672	0	0
PSG2	5670	broad.mit.edu	37	19	43576091	43576091	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43576091G>T	ENST00000406487.1	-	4	823	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGAATTCTGGGGAGGTCTGG	0.498000													27	87					1.04121e-07	1.25015e-07	0.027356	1	0
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48761448C>G	ENST00000285238.8	+	28	4173	c.4093C>G	c.(4093-4095)Cag>Gag	p.Q1365E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2.		Q -> R (in dbSNP:rs11568590).		bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.Q1365E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCGCTCTCAGCTGACCAT	0.602000													12	32					0	0	0.010729	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49340593C>T	ENST00000263265.6	-	20	2848	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	765						cytoplasm|membrane	1-phosphatidylinositol binding	p.E765K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CATGCCCCCTCGTCTTGTGGC	0.677000													14	62					0	0	0.024245	0	0
IRGQ	126298	broad.mit.edu	37	19	44096300	44096300	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:44096300C>A	ENST00000422989.1	-	3	1905	c.1750G>T	c.(1750-1752)Ggt>Tgt	p.G584C	IRGQ_ENST00000602269.1_Missense_Mutation_p.G584C|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	584	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCTGCACCACCCGCAGGCCAC	0.716000													11	50					3.07112e-06	3.5303e-06	0.010729	1	0
ZNF248	57209	broad.mit.edu	37	10	38126615	38126615	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:38126615C>T	ENST00000395867.3	-	5	718	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF248_ENST00000374648.3_Silent_p.V56V|ZNF248_ENST00000357328.4_Silent_p.V56V|ZNF248_ENST00000494133.1_5'UTR	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V56V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTTAAAGATCACTTCTGGTT	0.438000													5	38					0	0	0.014758	0	0
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	A	T	rs34236419		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171715359A>T	ENST00000358196.3	+	16	2117	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	523					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R523W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACAAAGCCTCAGGGGTGTGCC	0.438000													15	13					0	0	0.028581	0	0
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:17431488C>A	ENST00000375486.4	-	2	224	c.161G>T	c.(160-162)cGt>cTt	p.R54L	PADI2_ENST00000375481.1_Missense_Mutation_p.R54L|PADI2_ENST00000444885.2_Missense_Mutation_p.R54L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R54L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCCCCATCACGCACCACCTC	0.662000													38	21					1.60099e-16	2.17006e-16	0.021022	1	0
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:10288575G>A	ENST00000296658.3	-	3	702	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	94						cytosol	hydrolase activity|protein binding	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GCCACTCAGGGAAGATAGACC	0.507000													16	38					0	0	0.028581	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:89916936T>A	ENST00000548729.1	-	3	1684	c.1382A>T	c.(1381-1383)gAc>gTc	p.D461V	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.D292V|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.D464V|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.D464V(1)									GGGGTTGTTGTCAGGAGAATT	0.403000													9	41					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113697836G>C	ENST00000297405.5	-	15	2525	c.2281C>G	c.(2281-2283)Ctt>Gtt	p.L761V	CSMD3_ENST00000343508.3_Missense_Mutation_p.L721V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	20					0	0	0.006214	0	0
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:29609316G>T	ENST00000373779.3	+	12	2126	c.1997G>T	c.(1996-1998)gGg>gTg	p.G666V	PTPRU_ENST00000460170.2_Missense_Mutation_p.G666V|PTPRU_ENST00000356870.3_Missense_Mutation_p.G666V|PTPRU_ENST00000323874.8_Missense_Mutation_p.G666V|PTPRU_ENST00000428026.2_Missense_Mutation_p.G666V|PTPRU_ENST00000345512.3_Missense_Mutation_p.G666V|PTPRU_ENST00000415600.2_3'UTR	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G666V(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACTACTTCGGGGCCGAACTG	0.667000													46	62					3.77016e-25	5.296e-25	0.013114	1	0
MARK1	4139	broad.mit.edu	37	1	220825366	220825366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:220825366G>C	ENST00000402574.1	+	15	2207	c.1205G>C	c.(1204-1206)gGc>gCc	p.G402A	MARK1_ENST00000366918.4_Missense_Mutation_p.G515A|MARK1_ENST00000366917.4_Missense_Mutation_p.G537A	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	537					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G537A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTCTGCAGGCTCTTCTGTG	0.463000													12	74					0	0	0.013537	0	0
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:108714382T>A	ENST00000361189.2	-	4	1045	c.806A>T	c.(805-807)cAa>cTa	p.Q269L	PJA2_ENST00000361557.3_Missense_Mutation_p.Q269L	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	269					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.Q269L(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTATTTTGTTGTTTCGTACT	0.403000													12	41					0	0	0.010729	0	0
CDH23	64072	broad.mit.edu	37	10	73501649	73501649	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:73501649G>T	ENST00000224721.6	+	37	4836	c.4831G>T	c.(4831-4833)Gtg>Ttg	p.V1611L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1606	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V1611L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGGCCACTGTGGAGGACGA	0.697000													5	8					0.014758	0.0151827	0.014758	1	0
NBEA	26960	broad.mit.edu	37	13	36241513	36241513	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36241513G>T	ENST00000540320.1	+	56	8938	c.8404G>T	c.(8404-8406)Ggc>Tgc	p.G2802C	NBEA_ENST00000310336.4_Missense_Mutation_p.G2802C|NBEA_ENST00000379922.3_Missense_Mutation_p.G380C|NBEA_ENST00000537702.1_Missense_Mutation_p.G595C|NBEA_ENST00000379939.2_Missense_Mutation_p.G2799C|NBEA_ENST00000400445.3_Missense_Mutation_p.G2802C			Q8NFP9	NBEA_HUMAN	neurobeachin	2802						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.G2802C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTGCAGAGGGCCCTTGCCT	0.532000													7	51					1.06961e-07	1.2821e-07	0.003080	1	0
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:26242238C>G	ENST00000335473.7	+	19	3790	c.3540C>G	c.(3538-3540)atC>atG	p.I1180M	MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M|MYO18B_ENST00000407587.2_Missense_Mutation_p.I1181M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617000													21	29					0	0	0.010504	0	0
FAT3	120114	broad.mit.edu	37	11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92532943A>G	ENST00000298047.6	+	9	6781	c.6764A>G	c.(6763-6765)aAg>aGg	p.K2255R	FAT3_ENST00000409404.2_Missense_Mutation_p.K2255R|FAT3_ENST00000525166.1_Missense_Mutation_p.K2105R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2255	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K2255R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428000										TCGA Ovarian(4;0.039)			5	19					0	0	0.014758	0	0
OR6K3	391114	broad.mit.edu	37	1	158687653	158687653	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158687653G>T	ENST00000368146.1	-	1	300	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L85I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L101I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCACTGATGAGGTTGGAGAGC	0.453000													16	141					1.3612e-06	1.57741e-06	0.024245	1	0
HSPG2	3339	broad.mit.edu	37	1	22180713	22180713	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:22180713T>A	ENST00000374695.3	-	50	6491	c.6412A>T	c.(6412-6414)Acc>Tcc	p.T2138S	HSPG2_ENST00000430507.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2138	Ig-like C2-type 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.T2138S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGAATGGGTGCCGTGGAGC	0.617000													3	6					0	0	0.004672	0	0
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35719611C>T	ENST00000314888.9	-	15	1945	c.1592G>A	c.(1591-1593)tGg>tAg	p.W531*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.W531*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	531					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.W531*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTACGCCAGGCCTTAGA	0.512000													15	65					0	0	0.020292	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163941	93163941	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:93163941C>T	ENST00000344636.3	+	12	1294	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.F370F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATCTTTATTCACATTGCCCG	0.318000													5	22					0	0	0.014758	0	0
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:63543950C>T	ENST00000299178.2	-	1	772	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G223S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACAAAGATGCCGCCCGTCATC	0.617000													24	129					0	0	0.018920	0	0
DIAPH2	1730	broad.mit.edu	37	X	96220166	96220166	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:96220166C>T	ENST00000324765.8	+	17	2357	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	DIAPH2_ENST00000373061.3_Silent_p.L670L|DIAPH2_ENST00000373054.4_Silent_p.L666L|DIAPH2_ENST00000373049.4_Silent_p.L670L|DIAPH2_ENST00000355827.4_Silent_p.L670L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	670	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.L670L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATCCAGATCTCTTTGCCAAAT	0.303000													3	6					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179596652C>A	ENST00000589042.1	-	58	17174	c.16950G>T	c.(16948-16950)aaG>aaT	p.K5650N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4406N|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5333N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5333	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4406N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGTACTCCTTTAAGACTT	0.433000													18	57					1.67942e-08	2.04737e-08	0.006122	1	0
DAGLA	747	broad.mit.edu	37	11	61493493	61493493	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61493493C>G	ENST00000257215.5	+	6	691	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	192					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCAAGCCACCAGCTGGTCG	0.607000													5	147					0	0	0.029380	0	0
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:73567113G>T	ENST00000392550.3	+	17	2225	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	LLGL2_ENST00000577200.1_Missense_Mutation_p.R703L|LLGL2_ENST00000167462.5_Missense_Mutation_p.R703L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	703					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.R703L(4)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATCGAGGCTCGCTCGGCAGAG	0.657000													56	79					2.5401e-28	3.60709e-28	0.014410	1	0
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15928326G>T	ENST00000504595.1	+	3	936	c.455G>T	c.(454-456)cGg>cTg	p.R152L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R140L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R105L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R152L(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGGACCCGCGGCTCTGGAGG	0.662000													5	12					1.6384e-10	2.06242e-10	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:8982214G>T	ENST00000397910.4	-	70	42264	c.42061C>A	c.(42061-42063)Cat>Aat	p.H14021N	MUC16_ENST00000380951.5_Missense_Mutation_p.H662N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14046	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H14021N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCATGGGTCTGCTGG	0.632000													13	26					1.5842e-08	1.9379e-08	0.016723	1	0
SLC30A9	10463	broad.mit.edu	37	4	42024921	42024921	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:42024921A>G	ENST00000264451.6	+	5	681	c.501A>G	c.(499-501)gtA>gtG	p.V167V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	167					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.V167V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTTTACTGTATACTTGAGAT	0.323000													3	20					0	0	0.009096	0	0
IFT172	26160	broad.mit.edu	37	2	27706212	27706212	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27706212C>T	ENST00000260570.3	-	7	617	c.514G>A	c.(514-516)Gca>Aca	p.A172T	IFT172_ENST00000359466.6_Missense_Mutation_p.A172T|IFT172_ENST00000416524.2_Missense_Mutation_p.A151T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	172					cilium assembly	cilium	binding	p.A172T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTACCATCTGCATGACCAGAG	0.423000													7	56					0	0	0.004482	0	0
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39088536T>G	ENST00000295373.6	-	5	1142	c.1016A>C	c.(1015-1017)gAt>gCt	p.D339A	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D339A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAGAATCATCTACACTTCT	0.333000													10	14					0	0	0.006214	0	0
ZNF831	128611	broad.mit.edu	37	20	57769224	57769224	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57769224G>T	ENST00000371030.2	+	1	3150	c.3150G>T	c.(3148-3150)gaG>gaT	p.E1050D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1050						intracellular	nucleic acid binding|zinc ion binding	p.E1050D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCCCAGGGAGGCTACCTCCT	0.632000													18	30					1.99824e-07	2.37332e-07	0.033300	1	0
TNS3	64759	broad.mit.edu	37	7	47343137	47343137	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47343137G>T	ENST00000398879.1	-	22	3234	c.2868C>A	c.(2866-2868)ccC>ccA	p.P956P	TNS3_ENST00000311160.9_Silent_p.P956P|TNS3_ENST00000355730.3_Silent_p.P716P			Q68CZ2	TENS3_HUMAN	tensin 3	956						focal adhesion	protein binding	p.P956P(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGAAACCATGGGCTTGGGGC	0.607000													4	20					0.00909568	0.00941159	0.009096	1	0
LY6K	54742	broad.mit.edu	37	8	143784660	143784660	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143784660A>G	ENST00000292430.6	+	3	786	c.369A>G	c.(367-369)ttA>ttG	p.L123L	LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Silent_p.L181L			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	123	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.L181L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTGCAATTTAGAGGGGCCAC	0.532000													11	74					0	0	0.008291	0	0
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:123601254C>T	ENST00000336139.4	-	3	705	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E115K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E115K			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCCTCCTCGCCACTTTCT	0.582000													38	86					0	0	0.025465	0	0
PRDM4	11108	broad.mit.edu	37	12	108134944	108134944	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:108134944T>C	ENST00000228437.5	-	10	2162	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	568					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H568R(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGATGGTTATGGATGTGGCT	0.488000													15	81					0	0	0.028581	0	0
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	C	G	rs140307739		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1508329C>G	ENST00000381401.5	-	2	1117	c.403G>C	c.(403-405)Gat>Cat	p.D135H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	135					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.D135H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTGGCGAAATCCAGCGGGTAC	0.657000													29	125					0	0	0.009535	0	0
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1271377G>A	ENST00000447027.1	+	31	13334	c.13276G>A	c.(13276-13278)Gag>Aag	p.E4426K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E4423K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.E4423K(2)|p.E4378K(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCCTCACAGAGCTGACCAC	0.647000													26	105					0	0	0.034045	0	0
OR13G1	441933	broad.mit.edu	37	1	247835786	247835786	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247835786A>G	ENST00000359688.2	-	1	579	c.558T>C	c.(556-558)tgT>tgC	p.C186C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C186C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTACAGGGCTACAGGACAAAG	0.463000													6	48					0	0	0.029380	0	0
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:72123457C>A	ENST00000340726.3	-	17	2271	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	EYA1_ENST00000388740.3_Missense_Mutation_p.R511S|EYA1_ENST00000388741.2_Missense_Mutation_p.R510S|EYA1_ENST00000388743.2_Missense_Mutation_p.R543S|EYA1_ENST00000419131.1_Missense_Mutation_p.R509S|EYA1_ENST00000388742.4_Missense_Mutation_p.R544S|EYA1_ENST00000303824.7_Missense_Mutation_p.R538S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	544					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R544S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358000													18	31					9.7654e-05	0.000106926	0.007413	1	0
MEF2D	4209	broad.mit.edu	37	1	156437954	156437954	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156437954G>A	ENST00000348159.4	-	11	1865	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000360595.3_Missense_Mutation_p.A455V|MEF2D_ENST00000368240.2_Missense_Mutation_p.A455V|MEF2D_ENST00000353795.3_Missense_Mutation_p.A416V|MEF2D_ENST00000340875.5_Missense_Mutation_p.A461V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	462					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A462V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGGGCGGGCAGCTGGGAA	0.682000													13	102					0	0	0.013537	0	0
INPPL1	3636	broad.mit.edu	37	11	71940249	71940249	+	Missense_Mutation	SNP	G	G	T	rs17847214	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71940249G>T	ENST00000298229.2	+	5	838	c.634G>T	c.(634-636)Gct>Tct	p.A212S	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	212					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.A212S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTACCCTCGCTACCTCATG	0.622000													5	32					3.59834e-05	4.01374e-05	0.021553	1	0
NXPE4	54827	broad.mit.edu	37	11	114453161	114453161	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:114453161C>T	ENST00000375478.3	-	3	859	c.679G>A	c.(679-681)Gct>Act	p.A227T	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.A227T(1)									CACAATTCAGCATTTGTGTTT	0.488000													4	43					0	0	0.014758	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:12028689G>C	ENST00000415385.3	+	9	977		c.e9+1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCACATTGGTATGTTTATG	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								17	23					0	0	0.028581	0	0
RASA3	22821	broad.mit.edu	37	13	114773076	114773076	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:114773076C>G	ENST00000334062.7	-	18	1796	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	RASA3_ENST00000389544.4_Missense_Mutation_p.D527H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	559					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GAAATCAGATCCAAGAACTAA	0.552000													8	46					0	0	0.004482	0	0
HSPA6	3310	broad.mit.edu	37	1	161496369	161496369	+	Missense_Mutation	SNP	G	G	A	rs144080022		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:161496369G>A	ENST00000309758.4	+	1	2334	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	641					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATCATTGAGGAGGTTGATTG	0.582000													5	48					0	0	0.021553	0	0
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:22068796G>T	ENST00000261200.4	-	5	621	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	ABCC9_ENST00000345162.2_Missense_Mutation_p.L208I|ABCC9_ENST00000261201.4_Missense_Mutation_p.L208I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L208I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATCCTGGAGGTCTTCAGGA	0.363000													6	12					0.00116845	0.0012386	0.021553	1	0
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15558333T>C	ENST00000344577.2	-	3	578	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	LIPI_ENST00000536861.1_Missense_Mutation_p.I164V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I185V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AATCCACTGATATGAGCCCCT	0.313000													83	50					0	0	0.014410	0	0
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47882444G>T	ENST00000335071.2	+	1	701	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721000													7	48					8.12818e-05	8.91358e-05	0.029380	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140516601C>T	ENST00000231134.5	+	1	1802	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R529C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGAGC	0.682000													26	72					0	0	0.021523	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070363	70070363	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:70070363A>G	ENST00000446444.1	-	5	1103	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	365					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.H365H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGTTTTTGGATGACCTAGGA	0.378000													7	28					0	0	0.029380	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:128060645C>T	ENST00000254730.6	+	5	1410	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	EEFSEC_ENST00000483457.1_Silent_p.H397H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	452						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.H452H(2)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCTGCTCCACGGGCTAGAGG	0.612000													23	40					0	0	0.014323	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000													27	138					0	0	0.027356	0	0
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:62701953G>T	ENST00000361317.2	+	9	1145	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	TCEA2_ENST00000343484.5_Missense_Mutation_p.G262C|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	262	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G262C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTTCACCTGCGGCAAGTGCAG	0.632000													10	18					1.76689e-08	2.14669e-08	0.006214	1	0
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148802277C>T	ENST00000378061.2	-	4	818	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G229E(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCGGACTTCCCTCTGGACGA	0.532000													33	26					0	0	0.013726	0	0
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:154133184C>T	ENST00000360256.4	-	16	5688	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1830K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTGGTTTCATTAGGCTTG	0.418000													9	17					0	0	0.004482	0	0
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:19491400G>C	ENST00000375267.2	-	32	4407	c.4404C>G	c.(4402-4404)ctC>ctG	p.L1468L	UBR4_ENST00000375254.3_Silent_p.L1468L|UBR4_ENST00000375217.2_Silent_p.L1468L|UBR4_ENST00000375226.2_Silent_p.L1468L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1468					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L1468L(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCGGGTGAGCCAGGCCT	0.567000													38	74					0	0	0.019004	0	0
RAI1	10743	broad.mit.edu	37	17	17699745	17699745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:17699745G>A	ENST00000353383.1	+	3	3952	c.3483G>A	c.(3481-3483)cgG>cgA	p.R1161R	RAI1_ENST00000261641.6_Silent_p.R1161R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1161						cytoplasm|nucleus	zinc ion binding	p.R1161R(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAGCGGCGGAGGCCCTCTG	0.632000													17	57					0	0	0.028581	0	0
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:26533740C>T	ENST00000333478.6	-	8	2841	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR113_ENST00000541401.1_Silent_p.L555L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.L952L|GPR113_ENST00000421160.2_Silent_p.L883L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L952L(2)|p.L753L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAAGGTCTCAGCAACTTCA	0.582000													10	16					0	0	0.006214	0	0
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:31422674C>A	ENST00000389202.2	+	14	1592	c.1543C>A	c.(1543-1545)Cac>Aac	p.H515N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	515					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H515N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGCAGGGCCACCCCTGGGG	0.622000													49	141					5.7616e-29	8.1981e-29	0.014410	1	0
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:151520208A>C	ENST00000535741.1	-	38	6470	c.5997T>G	c.(5995-5997)ccT>ccG	p.P1999P	LRBA_ENST00000507224.1_Silent_p.P1999P|LRBA_ENST00000357115.3_Silent_p.P1999P|LRBA_ENST00000510413.1_Silent_p.P1999P			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.P1999P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGATCCTAGAGGGTTACGCA	0.502000													15	44					0	0	0.020292	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:67829219T>A	ENST00000433211.1	-	15	2180	c.2006A>T	c.(2005-2007)gAa>gTa	p.E669V	CTNNA3_ENST00000373735.1_Missense_Mutation_p.E8V|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E669V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	669					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.E669V(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTTCTTTTTCTGCCTCAGG	0.348000													9	29					0	0	0.004482	0	0
ADCY10	55811	broad.mit.edu	37	1	167830153	167830153	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:167830153C>G	ENST00000367848.1	-	15	1986	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	ADCY10_ENST00000367851.4_Missense_Mutation_p.D589H|ADCY10_ENST00000545172.1_Missense_Mutation_p.D436H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.D589H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTTTTCATCCAACAGTGTC	0.403000													11	67					0	0	0.013537	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923746	144923746	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:144923746C>T	ENST00000529945.1	-	2	1640	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D375N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D25N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D401N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D304N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D375N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D238N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	238				R -> Q (in Ref. 4; CAD91152).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.D238N(2)|p.D401N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGTGGGAATCAGATACAGAC	0.438000			T	PDGFRB	MPD								10	137					0	0	0.006214	0	0
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55846499G>C	ENST00000322678.1	+	1	502	c.502G>C	c.(502-504)Gac>Cac	p.D168H	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D168H(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CGAATTCTGTGACTCCAATGC	0.448000													13	23					0	0	0.016723	0	0
ADCY8	114	broad.mit.edu	37	8	131955633	131955633	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131955633G>C	ENST00000286355.5	-	4	3409	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L439L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L439L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGCTCGTTGAGCATCCTGA	0.473000										HNSCC(32;0.087)			3	16					0	0	0.004672	0	0
SYT11	23208	broad.mit.edu	37	1	155838184	155838184	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:155838184G>C	ENST00000368324.4	+	2	716	c.463G>C	c.(463-465)Gat>Cat	p.D155H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	155						cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCCAGAGGAGGATGTCATGCT	0.517000													26	159					0	0	0.018920	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37546891G>T	ENST00000299824.1	+	11	1475	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R387L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	429					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R429L(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGCCTCCGGGCTCCGGTC	0.597000													79	248					3.71514e-35	5.31796e-35	0.014410	1	0
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:156136166G>T	ENST00000329476.3	+	2	1564	c.1075G>T	c.(1075-1077)Gct>Tct	p.A359S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A359S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.A359S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GACATTCAAGGCTAAAAAGAA	0.498000													9	24					0.000442599	0.000476953	0.006214	1	0
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:49458380C>T	ENST00000358791.5	+	4	532	c.432C>T	c.(430-432)gcC>gcT	p.A144A	BCAS4_ENST00000371608.2_Silent_p.A144A|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	144						cytoplasm		p.A144A(6)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACCATGGGGCCTTCCCTCAGG	0.652000													18	36					0	0	0.007413	0	0
RYR3	6263	broad.mit.edu	37	15	34021153	34021153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:34021153G>T	ENST00000389232.4	+	47	7199	c.7129G>T	c.(7129-7131)Gat>Tat	p.D2377Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D2377Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2377	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D2377Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCATTAAGGATCAAACTTT	0.453000													6	10					0.0293803	0.0299671	0.029380	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:125298590C>A	ENST00000538699.1	-	2	1398	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.E440*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440								p.E440*(4)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTTCATCTCCGGCCAGTTG	0.577000													33	83					3.03874e-20	4.19035e-20	0.015359	1	0
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15103747G>T	ENST00000378217.3	+	5	534	c.347G>T	c.(346-348)aGa>aTa	p.R116I	OLAH_ENST00000378228.3_Missense_Mutation_p.R63I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	63					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.R116I(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTCCTGGAAGAGAAAGCAGA	0.423000													16	21					2.31682e-05	2.59035e-05	0.024245	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178506897G>C	ENST00000315475.6	+	5	1770	c.1464G>C	c.(1462-1464)agG>agC	p.R488S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R488S(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACATGAGAGGATCCACACTG	0.393000													9	25					0	0	0.004482	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745530	135745530	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:135745530C>G	ENST00000375845.3	-	7	942	c.912G>C	c.(910-912)aaG>aaC	p.K304N	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K321N|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K191N|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.K304N(1)									AGTTTTCCTCCTTCTCCAGGC	0.408000													8	65					0	0	0.004482	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285753	85285753	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:85285753T>C	ENST00000450363.3	-	2	605	c.147A>G	c.(145-147)acA>acG	p.T49T	SLC6A15_ENST00000266682.5_Silent_p.T49T|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCAACATCTGTATCTTTCT	0.403000													7	70					0	0	0.029380	0	0
NGDN	25983	broad.mit.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:23945466G>C	ENST00000397154.3	+	8	576	c.563G>C	c.(562-564)cGg>cCg	p.R188P	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000408901.3_Missense_Mutation_p.R188P			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468000													9	52					0	0	0.006214	0	0
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:70406705A>G	ENST00000373644.4	+	4	4428	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1407					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.T1407A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTAACCCTACAAAAAACCT	0.388000													9	32					0	0	0.006214	0	0
GDF2	2658	broad.mit.edu	37	10	48414052	48414052	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:48414052C>G	ENST00000249598.1	-	2	975	c.816G>C	c.(814-816)ctG>ctC	p.L272L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	272					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCATCTCCCTCAGCTCCAGCC	0.572000													9	57					0	0	0.004482	0	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:124294222G>T	ENST00000356130.3	-	1	567	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000													7	25					0.00198382	0.00209054	0.029380	1	0
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:39898382G>T	ENST00000597629.1	+	2	116		c.e2-1		ZFP36_ENST00000594045.1_Splice_Site|ZFP36_ENST00000248673.3_Splice_Site			P26651	TTP_HUMAN	ZFP36 ring finger protein						positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.?(2)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCGCAGAGCCTCCTGT	0.672000													114	213					4.35912e-55	6.26487e-55	0.014410	1	0
PYGO2	90780	broad.mit.edu	37	1	154931475	154931475	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154931475C>T	ENST00000368457.2	-	3	1172	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	PYGO2_ENST00000368456.1_Missense_Mutation_p.R297Q	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	334					Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCTCACTCCGACAGGCACC	0.632000													7	63					0	0	0.003080	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42407924G>T	ENST00000599846.1	+	21	2198	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	ARHGEF1_ENST00000337665.4_Silent_p.L650L|ARHGEF1_ENST00000347545.4_Silent_p.L602L|ARHGEF1_ENST00000354532.3_Silent_p.L635L|ARHGEF1_ENST00000378152.4_Silent_p.L617L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	635	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.L650L(2)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCCTATGCTGAGCGAGTTCA	0.627000													19	35					7.21436e-19	9.88174e-19	0.008871	1	0
KRT82	3888	broad.mit.edu	37	12	52788852	52788852	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52788852G>T	ENST00000257974.2	-	9	1526	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGCTCGCAGGGGACATAGA	0.632000													24	72					5.49717e-05	6.10796e-05	0.018920	1	0
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:49842403G>T	ENST00000340652.3	+	3	1349	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		p.E265*(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCCTGTGTACGAGCCTGATCA	0.577000													16	38					6.31663e-08	7.60975e-08	0.024245	1	0
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49720763C>G	ENST00000296456.5	+	22	2587	c.2187C>G	c.(2185-2187)caC>caG	p.H729Q	APEH_ENST00000438011.1_Missense_Mutation_p.H734Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	729					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.H729Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACGCACACACTTGGGCAGCT	0.567000													18	93					0	0	0.007413	0	0
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	C	G	rs145638188	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:76455187C>G	ENST00000389840.5	-	61	9839	c.9715G>C	c.(9715-9717)Gag>Cag	p.E3239Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3248Q					dynein, axonemal, heavy chain 17									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607000													12	202					0	0	0.028581	0	0
INTS1	26173	broad.mit.edu	37	7	1519959	1519959	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:1519959G>A	ENST00000389470.4	-	31	4664	c.4665C>T	c.(4663-4665)ttC>ttT	p.F1555F	INTS1_ENST00000404767.3_Silent_p.F1356F			Q8N201	INT1_HUMAN	integrator complex subunit 1	1356					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTGGAGGAACATGCCAG	0.662000													5	16					0	0	0.014758	0	0
MAPK7	5598	broad.mit.edu	37	17	19282274	19282274	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:19282274G>T	ENST00000308406.5	+	2	447	c.61G>T	c.(61-63)Gtg>Ttg	p.V21L	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.V21L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.V21L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	21	Required for cytoplasmic targeting (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.V21L(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCGGGCCCGTGAAGGCCGA	0.657000													5	9					0.00116845	0.0012386	0.021553	1	0
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49897671G>C	ENST00000477224.1	-	10	1353	c.875C>G	c.(874-876)tCt>tGt	p.S292C	CAMKV_ENST00000296471.7_Missense_Mutation_p.S264C|CAMKV_ENST00000488336.1_Missense_Mutation_p.S292C|CAMKV_ENST00000467248.1_Missense_Mutation_p.S217C|CAMKV_ENST00000466940.1_Missense_Mutation_p.S249C|CAMKV_ENST00000463537.1_Missense_Mutation_p.S292C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S292C(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTTCTTATCAGAAGCAGCATT	0.488000													13	35					0	0	0.013537	0	0
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:155500537C>A	ENST00000461783.3	+	14	3927	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TIAM2_ENST00000367174.2_Missense_Mutation_p.P261Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P885Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.P197Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.P221Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P909Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.P885Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P885Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.P885Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGTCTTTCCACTAAATGTT	0.373000													23	32					2.39556e-15	3.21356e-15	0.016522	1	0
DCDC1	341019	broad.mit.edu	37	11	31115602	31115602	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:31115602T>A	ENST00000597505.1	-	14	2112	c.2113A>T	c.(2113-2115)Acc>Tcc	p.T705S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.T324S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTACCTTGGTGATCAGCCAC	0.537000													12	68					0	0	0.016723	0	0
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56310672G>A	ENST00000528616.2	-	1	85	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTGGAGTTCCGGGCAATCTGT	0.458000													9	40					0	0	0.006214	0	0
RIMS2	9699	broad.mit.edu	37	8	104987722	104987722	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:104987722C>T	ENST00000507740.1	+	13	2527	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L	RIMS2_ENST00000406091.3_Missense_Mutation_p.P972L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P750L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P811L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1034					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P764L(2)|p.P1039L(1)|p.P750L(1)|p.P972L(1)		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)			CCCAGTGTCCCTCCTCCACAA	0.413000										HNSCC(12;0.0054)			3	12					0	0	0.004672	0	0
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86578265T>C	ENST00000370571.2	-	5	1950	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	COL24A1_ENST00000436319.1_Silent_p.G528G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	528	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.G528G(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCAGGTAATCCAGGTAAAC	0.388000													11	37					0	0	0.008291	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10205580	10205580	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10205580G>T	ENST00000253109.4	-	3	855	c.617C>A	c.(616-618)cCg>cAg	p.P206Q	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P206Q|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P206Q	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	206					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	p.P206Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAGACGGACCGGAACCACAGG	0.632000													19	17					6.49762e-13	8.45459e-13	0.006122	1	0
OIT3	170392	broad.mit.edu	37	10	74660219	74660219	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:74660219G>T	ENST00000334011.5	+	3	739	c.521G>T	c.(520-522)gGc>gTc	p.G174V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	174						nuclear envelope	calcium ion binding	p.G174V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACTGTGCTAGGCCCTGACAGG	0.473000													4	25					1.23904e-05	1.39404e-05	0.014758	1	0
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:46620584G>C	ENST00000296145.5	+	2	768		c.e2-1		LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Splice_Site	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.?(2)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTCTTCCTAGTGTGATTTGG	0.413000													17	56					0	0	0.006122	0	0
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:1483437T>C	ENST00000300954.5	-	12	1478	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	473					proteolysis	integral to membrane	serine-type endopeptidase activity	p.R473G(2)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTTTCCCTGATGTAGATC	0.701000													28	22					0	0	0.019004	0	0
KLHL28	54813	broad.mit.edu	37	14	45415050	45415050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45415050G>C	ENST00000396128.4	-	2	201	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433000													3	30					0	0	0.004672	0	0
H2AFV	94239	broad.mit.edu	37	7	44875224	44875224	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44875224G>C	ENST00000222690.6	-	4	334	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000308153.4_Missense_Mutation_p.L77V|H2AFV_ENST00000446531.1_Missense_Mutation_p.L77V|H2AFV_ENST00000350771.3_Missense_Mutation_p.L51V|H2AFV_ENST00000437072.1_Missense_Mutation_p.L39V|H2AFV_ENST00000349299.3_Missense_Mutation_p.L39V	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L77V(1)|p.L77I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTTACTTTGAGATCCTTAGAA	0.463000													7	35					0	0	0.003080	0	0
VWA5A	4013	broad.mit.edu	37	11	123988412	123988412	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:123988412A>T	ENST00000456829.2	+	4	327	c.76A>T	c.(76-78)Att>Ttt	p.I26F	VWA5A_ENST00000449321.1_Missense_Mutation_p.I26F|VWA5A_ENST00000392748.1_Missense_Mutation_p.I26F|VWA5A_ENST00000392744.4_Missense_Mutation_p.I42F|VWA5A_ENST00000360334.4_Missense_Mutation_p.I26F|VWA5A_ENST00000361352.5_Missense_Mutation_p.I26F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	26	VIT.							p.I26F(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAGCGTGAACATTTACGAGTT	0.458000													13	30					0	0	0.028581	0	0
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36699915C>G	ENST00000255448.4	-	2	571	c.360G>C	c.(358-360)ctG>ctC	p.L120L	DCLK1_ENST00000360631.3_Silent_p.L120L|DCLK1_ENST00000379892.4_Silent_p.L120L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.L120L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTGGTCCAGGCTGGAAA	0.522000													13	34					0	0	0.016723	0	0
HDC	3067	broad.mit.edu	37	15	50534774	50534774	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50534774G>T	ENST00000267845.3	-	12	2074	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	HDC_ENST00000543581.1_Missense_Mutation_p.P525T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	558					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTGGCATCTGGGGCCTCTTCT	0.547000													47	99					3.54909e-21	4.9226e-21	0.011902	1	0
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72409924G>A	ENST00000395270.1	+	10	1663	c.622G>A	c.(622-624)Gac>Aac	p.D208N	POM121_ENST00000446813.1_Missense_Mutation_p.D208N|POM121_ENST00000257622.4_Missense_Mutation_p.D208N|POM121_ENST00000434423.2_Missense_Mutation_p.D473N|POM121_ENST00000358357.3_Missense_Mutation_p.D208N	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	473	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.D208N(4)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTGGCAGCAGACAGGGAGTC	0.488000													6	11					0	0	0.004482	0	0
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:85863297C>T	ENST00000304195.3	-	14	1536	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	FRMD3_ENST00000328788.1_Missense_Mutation_p.E101K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E250K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.E444K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E444K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TACACTAGTTCAGAGATGGTT	0.493000													20	40					0	0	0.007413	0	0
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:18550453C>A	ENST00000399799.1	-	23	3616	c.2676G>T	c.(2674-2676)ttG>ttT	p.L892F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	892	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L892F(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCTAGATCCAACTGAGTAG	0.378000													9	17					0.000442599	0.000476953	0.006214	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100802561	100802561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:100802561C>G	ENST00000268070.4	-	5	974	c.869G>C	c.(868-870)cGt>cCt	p.R290P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	290	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R290P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTTACGGGACGTTGTCGTAG	0.473000													16	95					0	0	0.028581	0	0
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28578214G>T	ENST00000380982.4	-	24	3047	c.2966C>A	c.(2965-2967)cCg>cAg	p.P989Q	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.P986Q|FLT3_ENST00000537084.1_Missense_Mutation_p.P945Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	986					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P986Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGCGGAGAGAGTAG	0.463000			"""Mis, O"""		"""AML, ALL"""								17	26					1.15088e-07	1.37146e-07	0.028581	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	66					0	0	0.014758	0	0
ZFP2	80108	broad.mit.edu	37	5	178358866	178358866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178358866A>G	ENST00000361362.2	+	5	1082	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZFP2_ENST00000520301.1_Silent_p.K184K|ZFP2_ENST00000503510.2_Silent_p.K184K|ZFP2_ENST00000523286.1_Silent_p.K184K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K184K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCGGAGAGAAACCCTATCAGT	0.398000													3	23					0	0	0.014758	0	0
PRAME	23532	broad.mit.edu	37	22	22892257	22892257	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22892257C>G	ENST00000543184.1	-	4	1706	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PRAME_ENST00000402697.1_Missense_Mutation_p.E282Q|PRAME_ENST00000398743.2_Missense_Mutation_p.E282Q|PRAME_ENST00000539862.1_Missense_Mutation_p.E266Q|PRAME_ENST00000398741.1_Missense_Mutation_p.E282Q|PRAME_ENST00000424204.2_Missense_Mutation_p.E266Q|PRAME_ENST00000405655.3_Missense_Mutation_p.E282Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	282					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E282Q(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATATACTGCTCTTCCTTCTCC	0.502000													7	46					0	0	0.029380	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30793439C>G	ENST00000458257.1	+	2	258	c.244C>G	c.(244-246)Ctc>Gtc	p.L82V	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000013222.5_Missense_Mutation_p.L83V|INMT_ENST00000409539.1_Missense_Mutation_p.L82V														p.L83V(2)									AGACATCACTCTCTCCGACTT	0.567000													86	227					0	0	0.014410	0	0
ARPP21	10777	broad.mit.edu	37	3	35778819	35778819	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:35778819C>A	ENST00000187397.4	+	16	2065	c.1609C>A	c.(1609-1611)Ccg>Acg	p.P537T	ARPP21_ENST00000444190.1_Missense_Mutation_p.P483T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P503T|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503T|ARPP21_ENST00000337271.5_Missense_Mutation_p.P483T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	537	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTCCAGCCACCGCAGCCACA	0.642000													10	37					3.86212e-05	4.29458e-05	0.008291	1	0
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35776497G>T	ENST00000440995.2	+	29	4202	c.4202_splice	c.e29+1	p.S1401_splice	SPEF2_ENST00000356031.3_Splice_Site_p.S1406_splice|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.S1406I(1)		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)			GAAATGGCCAGGTAAAGTACT	0.308000													8	30					5.68852e-11	7.24362e-11	0.004482	1	0
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52327146T>A	ENST00000339223.4	+	2	324	c.145T>A	c.(145-147)Tgg>Agg	p.W49R	FPR3_ENST00000595991.1_Missense_Mutation_p.W49R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	49					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W49R(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTTGTGATCTGGGTGGCTGG	0.552000													37	49					0	0	0.025465	0	0
KIF16B	55614	broad.mit.edu	37	20	16348016	16348016	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16348016C>G	ENST00000408042.1	-	23	4111	c.3954G>C	c.(3952-3954)aaG>aaC	p.K1318N	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K1318N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACATTTTTCTTTTCTGGAA	0.433000													28	131					0	0	0.024334	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:64536211C>T	ENST00000355086.3	+	22	3541	c.3017C>T	c.(3016-3018)aCg>aTg	p.T1006M	SRGAP1_ENST00000543397.1_Missense_Mutation_p.T943M|SRGAP1_ENST00000357825.3_Missense_Mutation_p.T983M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance	cytosol		p.T1006M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCACTTCCACGGAATCTCTC	0.552000													17	36					0	0	0.028581	0	0
ACBD3	64746	broad.mit.edu	37	1	226340111	226340111	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:226340111C>G	ENST00000366812.5	-	7	1354	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	434	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.E434Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCTGTCCATTCAAAATACACC	0.468000													4	132					0	0	0.009096	0	0
ZNF232	7775	broad.mit.edu	37	17	5012590	5012590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5012590G>A	ENST00000416429.2	-	3	794	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ZNF232_ENST00000250076.3_Intron|ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000575898.1_Intron			Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCTGGCCCAAGAGAGGTTTGA	0.532000													19	23					0	0	0.006122	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603514	111603514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:111603514G>A	ENST00000431670.2	+	2	1001	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PHLDB2_ENST00000393925.3_Missense_Mutation_p.G197E|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G224E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G197E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	197						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G197E(2)|p.G224E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCAGATCGGGAGCCGCAAGC	0.567000													6	30					0	0	0.021553	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65793536G>C	ENST00000312106.5	-	1	452	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	105	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V105V(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGAGGGGACGGCGCCTT	0.607000													42	103					0	0	0.010771	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951246	30951246	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:30951246G>A	ENST00000402321.1	-	3	1283	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GAL3ST1_ENST00000406955.1_Silent_p.F322F|GAL3ST1_ENST00000406361.1_Silent_p.F322F|GAL3ST1_ENST00000401975.1_Silent_p.F322F|GAL3ST1_ENST00000338911.5_Silent_p.F322F|GAL3ST1_ENST00000443111.2_Silent_p.F322F|GAL3ST1_ENST00000402369.1_Silent_p.F322F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	322					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTCCCGCCCGAAGGCCTCCA	0.711000													4	22					0	0	0.009096	0	0
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:112406907T>C	ENST00000302475.4	-	10	1802	c.1239A>G	c.(1237-1239)caA>caG	p.Q413Q	MCC_ENST00000515367.2_Silent_p.Q350Q|MCC_ENST00000408903.3_Silent_p.Q603Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	413					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.Q603Q(2)|p.Q413Q(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGTCATTTTGGGATTTGA	0.428000													26	87					0	0	0.021523	0	0
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:127728854C>A	ENST00000508053.1	-	16	2413	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	FBN2_ENST00000262464.4_Missense_Mutation_p.G480V|FBN2_ENST00000508989.1_Missense_Mutation_p.G447V			P35556	FBN2_HUMAN	fibrillin 2	480					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G480V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTCCCTGTCCCCCGGCCCC	0.512000													17	73					0.00074312	0.000794811	0.006122	1	0
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5373536C>T	ENST00000380219.1	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P267S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCATGTTCCTCATGTCGT	0.408000													13	42					0	0	0.016723	0	0
ATP5A1	498	broad.mit.edu	37	18	43669547	43669547	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43669547C>G	ENST00000593152.2	-	5	1024	c.485G>C	c.(484-486)gGt>gCt	p.G162A	ATP5A1_ENST00000398752.6_Missense_Mutation_p.G212A|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G212A|ATP5A1_ENST00000590665.1_Missense_Mutation_p.G190A	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	212					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.G212A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CTGTCGGTCACCAATAATCAG	0.408000													5	32					0	0	0.014758	0	0
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40344578C>T	ENST00000301671.8	-	4	1011	c.570G>A	c.(568-570)ctG>ctA	p.L190L	GHDC_ENST00000428494.2_Silent_p.L151L|GHDC_ENST00000436923.2_Silent_p.L190L|GHDC_ENST00000414034.3_Silent_p.L190L|GHDC_ENST00000587427.1_Silent_p.L190L|GHDC_ENST00000593209.1_Silent_p.L190L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	190						endoplasmic reticulum|nuclear envelope		p.L190L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGGGACCTCAGTGCGTCCA	0.652000													31	99					0	0	0.037714	0	0
ACOT7	11332	broad.mit.edu	37	1	6453348	6453348	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:6453348C>A	ENST00000361521.4	-	1	1103	c.112G>T	c.(112-114)Gtc>Ttc	p.V38F	ACOT7_ENST00000545482.1_5'UTR	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	46						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	p.V38F(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCGTCTCGACGTCTGGGCCC	0.756000													16	5					1.02788e-11	1.32183e-11	0.033300	1	0
KRT19	3880	broad.mit.edu	37	17	39681167	39681167	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39681167G>C	ENST00000361566.3	-	3	648	c.588C>G	c.(586-588)gcC>gcG	p.A196A		NM_002276.4	NP_002267.2			keratin 19									p.A196A(1)|p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTCGGTCCTGGCCAGGGTCA	0.572000													20	124					0	0	0.008871	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716438	142716438	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:142716438C>A	ENST00000381779.4	-	2	2712	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E829D|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E829D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	829						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTTGCTCCTCAAGGACCT	0.403000													7	34					7.48243e-07	8.71325e-07	0.006214	1	0
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007353A>T	ENST00000332249.4	-	1	862	c.808T>A	c.(808-810)Tat>Aat	p.Y270N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y255N(2)|p.Y270N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGACATAGAAGACCAGG	0.517000													11	37					0	0	0.008291	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321443	42321443	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:42321443G>A	ENST00000291232.3	-	3	527	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	161						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						CTGGCACAGGGACACTGTGGC	0.637000													10	56					0	0	0.010729	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137061	126137061	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:126137061G>T	ENST00000299308.3	+	8	1982	c.1974G>T	c.(1972-1974)gcG>gcT	p.A658A	TMEM132B_ENST00000535886.1_Silent_p.A170A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658			A -> V (in dbSNP:rs16919359).			integral to membrane		p.A658A(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACCATCGCGGAGCTGGGAG	0.587000													23	43					1.1804e-14	1.57166e-14	0.021523	1	0
NR5A2	2494	broad.mit.edu	37	1	200017620	200017620	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200017620G>T	ENST00000367362.3	+	5	1030	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	NR5A2_ENST00000544748.1_Missense_Mutation_p.G190C|NR5A2_ENST00000236914.3_Missense_Mutation_p.G216C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	262					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAACATATGGCCACTTTCC	0.507000													10	65					0.000978159	0.00104308	0.010729	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	41					0	0	0.009096	0	0
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74094015C>A	ENST00000607838.1	-	5	596	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	EXOC7_ENST00000589210.1_Missense_Mutation_p.V168L|EXOC7_ENST00000467929.2_Missense_Mutation_p.V127L|EXOC7_ENST00000411744.2_Missense_Mutation_p.V168L|EXOC7_ENST00000405575.4_Missense_Mutation_p.V168L|EXOC7_ENST00000335146.7_Missense_Mutation_p.V168L|EXOC7_ENST00000332065.5_Missense_Mutation_p.V168L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	168					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	p.V168L(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATGAGCACGGGCGAGACG	0.592000													24	101					4.26978e-12	5.50566e-12	0.018920	1	0
FCGR1A	2209	broad.mit.edu	37	1	149762804	149762804	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149762804C>G	ENST00000369168.4	+	6	910	c.856C>G	c.(856-858)Cca>Gca	p.P286A	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	286					interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCAGTTACCAACTCCTGT	0.423000													9	91					0	0	0.006214	0	0
TCL6	27004	broad.mit.edu	37	14	96135898	96135898	+	RNA	SNP	A	A	T	rs76461999		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96135898A>T	ENST00000467865.1	+	0	1832				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttagaagcaaggcacaagtc	0.512000			T	TRA@	T-ALL								4	25					0	0	0.014758	0	0
TTC18	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75095212T>C	ENST00000401621.2	-	8	983	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	TTC18_ENST00000394865.1_Missense_Mutation_p.Y288C|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.Y288C|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	288							binding	p.Y288C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGATCAAGGTAGCAGCGACT	0.393000													6	21					0	0	0.021553	0	0
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:30704584C>T	ENST00000256246.2	-	1	2024	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	650								p.T650T(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTTATCCGTATCAATTT	0.299000													9	18					0	0	0.006214	0	0
CHST11	50515	broad.mit.edu	37	12	105150924	105150924	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105150924C>T	ENST00000303694.5	+	3	841	c.402C>T	c.(400-402)ctC>ctT	p.L134L	CHST11_ENST00000549260.1_Silent_p.L129L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	134					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.L134L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAAGCGGCTCATGATGGTCC	0.612000													6	65					0	0	0.021553	0	0
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:71977541G>A	ENST00000266674.5	+	18	2062	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	LGR5_ENST00000540815.2_Missense_Mutation_p.R560K|LGR5_ENST00000536515.1_Missense_Mutation_p.R512K|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	584						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGTTTTCAGATCCCCTCTG	0.493000													22	96					0	0	0.012319	0	0
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:11185641T>A	ENST00000379446.5	-	7	2425	c.2259A>T	c.(2257-2259)gcA>gcT	p.A753A	NEDD9_ENST00000504387.1_Silent_p.A753A|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	753	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	p.A753A(6)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCAGTTTGTGTGCACTGAGGA	0.547000													57	56					0	0	0.014410	0	0
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:13702486T>A	ENST00000357447.2	-	20	2096	c.1728A>T	c.(1726-1728)ccA>ccT	p.P576P	FRMD4A_ENST00000378503.1_Silent_p.P576P|FRMD4A_ENST00000358621.4_Silent_p.P561P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576						cytoplasm|cytoskeleton	binding	p.P576P(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCGACGGTGGCCGAGGAG	0.562000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	42					0	0	0.010818	0	0
MALAT1	378938	broad.mit.edu	37	11	65272908	65272908	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65272908A>T	ENST00000534336.1	+	0	7676					NR_002819.2																						TTAATAATAAAGCCCAAATCT	0.473000													14	90					0	0	0.016723	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769466	176769466	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:176769466C>G	ENST00000430069.1	-	5	512	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D85H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	85	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D85H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATTACGGCATCTATCAGGGAC	0.443000													7	48					0	0	0.029380	0	0
OPLAH	26873	broad.mit.edu	37	8	145108219	145108219	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:145108219C>G	ENST00000426825.1	-	20	2845	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	922							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.D922H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCACGGAGGTCCGACAGGTTG	0.652000													13	36					0	0	0.013537	0	0
HMCN1	83872	broad.mit.edu	37	1	186014906	186014906	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:186014906C>T	ENST00000271588.4	+	41	6620	c.6391C>T	c.(6391-6393)Ccc>Tcc	p.P2131S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2131S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2131	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P2131S(1)		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						TGATGCTATTCCCCCACCTAC	0.418000													4	33					0	0	0.009096	0	0
MYOM3	127294	broad.mit.edu	37	1	24401952	24401952	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:24401952G>A	ENST00000330966.7	-	22	2880	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	MYOM3_ENST00000329601.7_Silent_p.I905I|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Silent_p.I905I			Q5VTT5	MYOM3_HUMAN	myomesin 3	905								p.I905I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCAACCTCGATCTCATGGG	0.537000													7	34					0	0	0.003080	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481775	27481775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27481775G>T	ENST00000233535.4	-	2	475	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC30A3_ENST00000447008.2_Silent_p.L36L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	41					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.L41L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCTCAGGGAGGGGCTCTG	0.647000													15	12					4.93089e-13	6.43943e-13	0.020292	1	0
NAGLU	4669	broad.mit.edu	37	17	40695718	40695718	+	Missense_Mutation	SNP	G	G	T	rs104894598		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40695718G>T	ENST00000225927.2	+	6	1795	c.1694G>T	c.(1693-1695)cGg>cTg	p.R565L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	565			R -> P (in MPS3B; does not yield active enzyme).|R -> Q (in MPS3B).|R -> W (in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B).			lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACCTCACTCGGCAGGCAGTG	0.632000													3	38					6.4e-05	7.0524e-05	0.004672	1	0
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35370326G>T	ENST00000378495.3	+	12	1448	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	UNC13B_ENST00000396787.1_Missense_Mutation_p.G421V|UNC13B_ENST00000378496.4_Missense_Mutation_p.G409V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	409					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.G409V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCCGGAGGGCTCTATGGC	0.512000													12	26					5.16669e-11	6.59087e-11	0.010729	1	0
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:155171561C>T	ENST00000262640.6	+	7	624	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Silent_p.I162I|VAMP7_ENST00000286448.6_Silent_p.I203I	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348000													5	24					0	0	0.014758	0	0
C11orf82	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:82643578G>C	ENST00000533655.1	+	6	1410	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.E99Q|C11orf82_ENST00000430323.2_Missense_Mutation_p.E400Q	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	400					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.E400Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGACTTGAAGAGACAGCCAG	0.463000													27	115					0	0	0.027356	0	0
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:24920559A>G	ENST00000405141.1	+	12	1552	c.841A>G	c.(841-843)Aga>Gga	p.R281G	NCOA1_ENST00000407230.1_Missense_Mutation_p.R130G|NCOA1_ENST00000538539.1_Missense_Mutation_p.R281G|NCOA1_ENST00000406961.1_Missense_Mutation_p.R281G|NCOA1_ENST00000395856.3_Missense_Mutation_p.R281G|NCOA1_ENST00000348332.3_Missense_Mutation_p.R281G|NCOA1_ENST00000288599.5_Missense_Mutation_p.R281G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	281								p.R281G(4)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTTCCCTGAGAGCTGCTGG	0.368000			T	PAX3	alveolar rhadomyosarcoma								7	14					0	0	0.029380	0	0
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:34263448C>G	ENST00000607016.1	-	3	536	c.225G>C	c.(223-225)ggG>ggC	p.G75G	RP1-187N21.4_ENST00000605528.1_Silent_p.G194G	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3									p.G75G(2)		lung(2)	2						TTCCCAATGTCCCTTTTACTC	0.308000													8	27					0	0	0.004482	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212971	26212971	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:26212971G>T	ENST00000379034.1	+	2	1157	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	336	MAGE.							p.L336F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGAAGATTTGGTGCAAGATA	0.498000													27	83					8.16721e-17	1.10913e-16	0.010818	1	0
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:107816974A>T	ENST00000379028.3	-	27	3522	c.3052T>A	c.(3052-3054)Tta>Ata	p.L1018I	NRCAM_ENST00000379022.4_Missense_Mutation_p.L1018I|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1002I|NRCAM_ENST00000379024.4_Missense_Mutation_p.L999I|NRCAM_ENST00000413765.2_Missense_Mutation_p.L999I|NRCAM_ENST00000425651.2_Missense_Mutation_p.L1018I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1018	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.L1002I(2)|p.L1018I(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGAAATTTAAATTTTTTAAA	0.363000													23	18					0	0	0.014323	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914254	39914254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:39914254C>T	ENST00000425673.1	+	16	2798	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.Q854*|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Q795*			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	854					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.Q795*(1)|p.Q812*(1)|p.Q854*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCAACCCCAGCCATCCCC	0.692000													11	21					0	0	0.008291	0	0
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36194191A>G	ENST00000242108.4	+	2	976	c.258A>G	c.(256-258)gtA>gtG	p.V86V	EEPD1_ENST00000534978.1_Silent_p.V86V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	86					DNA repair		DNA binding	p.V86V(2)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCAGTGGTGTAGGCGCCACCA	0.612000													19	62					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:9072073C>A	ENST00000397910.4	-	3	15576	c.15373G>T	c.(15373-15375)Gag>Tag	p.E5125*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGGTCTCTTCTGTGTTT	0.438000													39	51					9.80977e-26	1.37935e-25	0.019004	1	0
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	A	rs148252365		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47882629C>A	ENST00000289672.2	-	34	5426	c.5376G>T	c.(5374-5376)ctG>ctT	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468000													22	55					9.22233e-05	0.000101057	0.024334	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683365	140683365	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140683365C>T	ENST00000239451.4	-	1	247	c.68G>A	c.(67-69)tGt>tAt	p.C23Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGTCAGTACACACGCTGTCCC	0.597000													8	49					0	0	0.006214	0	0
ASTN1	460	broad.mit.edu	37	1	176915180	176915180	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176915180C>T	ENST00000367654.2	-	13	2168	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D711N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D711N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D711N			O14525	ASTN1_HUMAN	astrotactin 1	719					cell migration|neuron cell-cell adhesion	integral to membrane		p.D711N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCACAGTCACTTCCCTCT	0.532000													11	58					0	0	0.008291	0	0
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:38188721A>G	ENST00000373048.4	-	10	1951	c.1952T>C	c.(1951-1953)cTt>cCt	p.L651P	EPHA10_ENST00000540011.1_Missense_Mutation_p.L146P|EPHA10_ENST00000330210.7_Missense_Mutation_p.L146P|EPHA10_ENST00000427468.2_Missense_Mutation_p.L651P|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	651	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.L652P(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCCTCCAAGGCTCCTCTC	0.617000													25	50					0	0	0.027356	0	0
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152281538G>T	ENST00000368799.1	-	3	5859	c.5824C>A	c.(5824-5826)Cat>Aat	p.H1942N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAAGATGGTTTCTGGAA	0.572000									Ichthyosis				248	355					8.3777e-110	1.20646e-109	0.014410	1	0
SH3BP1	23616	broad.mit.edu	37	22	38051611	38051611	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38051611G>A	ENST00000357436.4	+	18	2339	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	676					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.E676K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGAGCCCCTGAGGCTATCAG	0.667000													11	5					0	0	0.008291	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730088	200730088	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200730088C>G	ENST00000358823.2	+	2	531	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CAMSAP2_ENST00000413307.2_Silent_p.L87L|CAMSAP2_ENST00000236925.4_Silent_p.L87L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	87						cytoplasm|microtubule	protein binding	p.L87L(1)									CTGGGAGTCTCATTCTCAAGA	0.433000													12	86					0	0	0.013537	0	0
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	G	C	rs144091327	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27603003G>C	ENST00000323703.6	-	2	366	c.168C>G	c.(166-168)gaC>gaG	p.D56E	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.D56E(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTTGCCGTCGCCTTCCT	0.582000													27	146					0	0	0.027356	0	0
TBATA	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72541683G>T	ENST00000299290.1	-	4	540	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	TBATA_ENST00000456372.2_Silent_p.R51R|TBATA_ENST00000545575.1_Silent_p.R41R	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597000													41	89					6.2361e-21	8.61607e-21	0.030466	1	0
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:97605318C>T	ENST00000371203.5	+	5	951	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q260*|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					cell adhesion	integral to plasma membrane	ATP binding	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502000													14	67					0	0	0.016723	0	0
ZNF831	128611	broad.mit.edu	37	20	57768421	57768421	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57768421C>G	ENST00000371030.2	+	1	2347	c.2347C>G	c.(2347-2349)Ccc>Gcc	p.P783A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	783						intracellular	nucleic acid binding|zinc ion binding	p.P783A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGGCCGGACCCCAAGCTGGA	0.657000													15	32					0	0	0.024245	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140515957A>C	ENST00000231134.5	+	1	1158	c.941A>C	c.(940-942)tAt>tCt	p.Y314S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y314S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCATATTATAACGTGGAA	0.453000													25	104					0	0	0.030593	0	0
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:84339310T>C	ENST00000295488.3	-	16	3161	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	HELQ_ENST00000510985.1_Missense_Mutation_p.K933R	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1000							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K1000R(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTCAGCTTCTTGGTAAGTTC	0.348000								Other identified genes with known or suspected DNA repair function					42	46					0	0	0.013114	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521752	6521752	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:6521752G>C	ENST00000377782.3	-	10	1090	c.1023C>G	c.(1021-1023)ggC>ggG	p.G341G	TNFRSF25_ENST00000356876.3_Silent_p.G332G|TNFRSF25_ENST00000351748.3_Silent_p.G149G|TNFRSF25_ENST00000351959.5_Silent_p.G295G|TNFRSF25_ENST00000348333.3_Silent_p.G287G	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	332	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	p.G341G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCTGCGGGCCCGGCTGCA	0.711000													9	2					0	0	0.006214	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777984	27777984	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27777984G>A	ENST00000369163.2	+	1	143	c.133G>A	c.(133-135)Ggt>Agt	p.G45S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	45					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTATCGGCCTGGTACAGTGGC	0.652000													4	57					0	0	0.014758	0	0
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50549823G>A	ENST00000595661.1	+	6	2618	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G708E|ZNF473_ENST00000445728.3_Missense_Mutation_p.G696E|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.G708E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.G708E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AACGAATGCGGGAAAACGTTC	0.483000													15	66					0	0	0.024245	0	0
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51738435G>T	ENST00000436584.2	+	4	443	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000262262.4_Missense_Mutation_p.V257L|CD33_ENST00000391796.3_Missense_Mutation_p.V257L			P20138	CD33_HUMAN	CD33 molecule	257	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483000													15	35					2.48551e-13	3.25483e-13	0.033300	1	0
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:110098260G>A	ENST00000230124.3	+	16	2010	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	FIG4_ENST00000441478.2_Missense_Mutation_p.R352K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	629					cell death	endosome membrane	protein binding	p.R629K(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCAACAAGAAGAAGGTATTTT	0.353000													6	13					0	0	0.021553	0	0
DEGS1	8560	broad.mit.edu	37	1	224377623	224377623	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224377623G>A	ENST00000323699.4	+	2	593	c.427G>A	c.(427-429)Gat>Aat	p.D143N	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.D143N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	143					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	p.D143N(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGTCGATGTAGATATTCCTAC	0.408000													14	87					0	0	0.016723	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143955876T>A	ENST00000292427.4	-	9	1457	c.1425A>T	c.(1423-1425)acA>acT	p.T475T	CYP11B1_ENST00000517471.1_Silent_p.T409T|CYP11B1_ENST00000377675.3_Silent_p.T546T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	475					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T475T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGTTAGTGTCTCCACCT	0.542000									Familial Hyperaldosteronism type I				25	61					0	0	0.034045	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112972	39112972	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39112972G>C	ENST00000216044.5	+	4	1034	c.801G>C	c.(799-801)atG>atC	p.M267I		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	267					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.M267I(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCTTCGGCATGACAGGCCATC	0.552000													8	81					0	0	0.003080	0	0
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:135440237C>T	ENST00000443774.1	-	1	59	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522000													7	165					0	0	0.003080	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014861G>A	ENST00000379727.3	-	2	776	c.578C>T	c.(577-579)tCa>tTa	p.S193L	CYP1A1_ENST00000395048.2_Missense_Mutation_p.S193L|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S193L|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S193L|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	193					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.S193L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATTGGTCACTGATACCACCAC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				27	54					0	0	0.027356	0	0
SNAP25	6616	broad.mit.edu	37	20	10286806	10286806	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:10286806G>T	ENST00000254976.2	+	8	793	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SNAP25_ENST00000304886.2_Missense_Mutation_p.E194D|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	194	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.E194D(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GAATTGATGAGGCCAACCAAC	0.483000													6	24					0.0293803	0.0299671	0.029380	1	0
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Nonstop_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:34889224A>T	ENST00000381539.3	+	10	1177	c.1173A>T	c.(1171-1173)tgA>tgT	p.*391C	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292V|NPSR1_ENST00000360581.1_Missense_Mutation_p.E358V|NPSR1_ENST00000359791.1_Intron			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.E358V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGAGAACTGAGAGGCATGAG	0.488000													23	57					0	0	0.021523	0	0
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116426548C>A	ENST00000395715.3	-	7	4165	c.3588G>T	c.(3586-3588)gaG>gaT	p.E1196D	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1187D|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1183D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E937D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1183	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1196D(2)|p.E1183D(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCGTTTTCTCCTTGGAGG	0.413000									Langer-Giedion syndrome				10	38					2.17888e-05	2.44185e-05	0.006214	1	0
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26919437C>T	ENST00000321765.5	-	3	1157	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.M275I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCTTTCCTCCATAGCTCCAT	0.473000													19	43					0	0	0.007413	0	0
PPM1F	9647	broad.mit.edu	37	22	22280013	22280013	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22280013G>A	ENST00000407142.1	-	5	1470	c.410C>T	c.(409-411)gCa>gTa	p.A137V	PPM1F_ENST00000263212.5_Missense_Mutation_p.A305V|PPM1F_ENST00000397495.4_Missense_Mutation_p.A305V|PPM1F_ENST00000538191.1_Missense_Mutation_p.A201V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	305					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCACCCAATGCTTCAATGCG	0.627000													5	44					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179622626	179622626	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179622626C>T	ENST00000589042.1	-	45	10545	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3395K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3395K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTATTTTCTTCAAATTTG	0.398000													12	50					0	0	0.016723	0	0
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16359917C>T	ENST00000354981.2	-	19	2887	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q	KIF16B_ENST00000408042.1_Silent_p.Q910Q|KIF16B_ENST00000355755.3_Silent_p.Q910Q|KIF16B_ENST00000378003.2_Silent_p.Q136Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	910	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q910Q(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGGAGGTACTGTAGCTGGC	0.443000													45	69					0	0	0.036044	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51994903G>T	ENST00000291707.3	-	8	1835	c.1780C>A	c.(1780-1782)Ccc>Acc	p.P594T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P476T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	594					cell adhesion	integral to membrane	sugar binding	p.P594T(2)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTCACTTGGGGATGTTGATC	0.532000													38	71					6.2361e-21	8.61607e-21	0.030466	1	0
MIB1	57534	broad.mit.edu	37	18	19359454	19359454	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:19359454G>A	ENST00000261537.6	+	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	239					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G239D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGCAGAATGGCAACAGGAAT	0.408000													7	37					0	0	0.029380	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899923	130899923	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:130899923G>A	ENST00000392984.3	-	2	1376	c.633C>T	c.(631-633)gcC>gcT	p.A211A	CCDC74B_ENST00000310463.6_Silent_p.A109A|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	109								p.A109A(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGGAGCAGAGGCCCTGGAAA	0.647000													15	41					0	0	0.012319	0	0
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28963357C>T	ENST00000377179.3	-	7	1934	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E474E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCCCACACTCCTCACACCTGT	0.493000													22	29					0	0	0.012319	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630855	122630855	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:122630855G>C	ENST00000195173.4	-	20	3255	c.2952C>G	c.(2950-2952)agC>agG	p.S984R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1040R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S986R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	986	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S986R(1)|p.S1040R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACAGTGCCGGCTTCGGCTCT	0.637000													11	26					0	0	0.010729	0	0
PKD1	5310	broad.mit.edu	37	16	2164413	2164413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:2164413C>A	ENST00000262304.4	-	11	2819	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.E871*	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	871	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.E871*(1)		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						CAGACATTCTCAAAGCGGGCG	0.667000													8	26					0.00448238	0.00469239	0.004482	1	0
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47505153G>A	ENST00000371901.3	+	8	1272	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.R340K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	341						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R341K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCAAGAGAGATGCCGGGAG	0.522000													14	24					0	0	0.028581	0	0
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179516838T>A	ENST00000589042.1	-	204	39504	c.39280A>T	c.(39280-39282)Agt>Tgt	p.S13094C	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S10660C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S11587C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11447							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10660C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGAGGACTTTCCGGTTTG	0.348000													18	79					0	0	0.007413	0	0
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51742776C>A	ENST00000262262.4	+	7	949	c.928C>A	c.(928-930)Cac>Aac	p.H310N	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.H183N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	310					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.H310N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCATAAGAAACACCAGAAGAA	0.512000													9	13					0.00448238	0.00469239	0.004482	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140811320A>G	ENST00000252085.3	+	1	1136	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.K332E(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGCCAAAGTCCTGAT	0.517000													20	70					0	0	0.012319	0	0
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:149999767C>A	ENST00000370377.3	-	2	185		c.e2-1		CD99L2_ENST00000466436.1_Splice_Site|CD99L2_ENST00000355149.3_Splice_Site|CD99L2_ENST00000320893.6_Splice_Site|CD99L2_ENST00000437787.2_Splice_Site|CD99L2_ENST00000346693.4_Splice_Site	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion	cell junction|integral to membrane		p.?(4)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGATCCtaaaaattaa	0.289000													13	27					1.61879e-10	2.03953e-10	0.013537	1	0
NUP210L	91181	broad.mit.edu	37	1	154067433	154067433	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154067433T>G	ENST00000368559.3	-	15	2236	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q722P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	722						integral to membrane		p.Q722P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCCAGGCATTGGATCCGGTA	0.383000													5	26					0	0	0.014758	0	0
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21234952T>C	ENST00000233242.1	-	26	4915	c.4788A>G	c.(4786-4788)gcA>gcG	p.A1596A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1596					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1596A(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGCAGCAGTGCATTTTGCT	0.408000													17	21					0	0	0.028581	0	0
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:44144038T>A	ENST00000398776.1	+	9	1002	c.964T>A	c.(964-966)Tgg>Agg	p.W322R	CAPN11_ENST00000542245.1_Missense_Mutation_p.W322R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.W322R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGAATCCCTGGGGCCGGAT	0.597000													28	28					0	0	0.009535	0	0
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173703396G>C	ENST00000209884.4	+	3	704	c.568G>C	c.(568-570)Gac>Cac	p.D190H	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	190	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.D190H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGGATAGCAGACAAGTTCAC	0.428000													13	21					0	0	0.013537	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63235916C>A	ENST00000540857.1	-	4	499	c.367G>T	c.(367-369)Gga>Tga	p.G123*	HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*|HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.G133*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133								p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443000													21	41					1.87028e-06	2.16384e-06	0.012319	1	0
UFL1	23376	broad.mit.edu	37	6	96997631	96997631	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:96997631G>T	ENST00000369278.4	+	15	1840	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	592					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									CTTAGCTTCGGATTTAATGAT	0.398000													11	17					3.03607e-14	4.03118e-14	0.013537	1	0
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000377780.4_Missense_Mutation_p.S885L|DIS3_ENST00000545453.1_Missense_Mutation_p.S753L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328000										Multiple Myeloma(4;0.011)			4	36					0	0	0.021553	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381966	41381966	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41381966T>G	ENST00000377801.3	-	2	848	c.774A>C	c.(772-774)aaA>aaC	p.K258N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K258N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	258					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.K258N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCCACCCCTTTGACCACAG	0.423000													4	34					0	0	0.014758	0	0
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:8888088C>G	ENST00000256707.3	-	25	3638	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1153R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1153R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGCCGCCAGGGTAATAC	0.403000													6	9					0	0	0.003080	0	0
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42730041G>C	ENST00000301215.3	+	3	1711	c.1486G>C	c.(1486-1488)Ggt>Cgt	p.G496R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G496R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GACACACACGGGTGAGAGGCC	0.617000													19	82					0	0	0.006122	0	0
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:218713785T>A	ENST00000171887.4	-	17	1532	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TNS1_ENST00000430930.1_Silent_p.P360P|TNS1_ENST00000419504.1_Silent_p.P360P|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	360						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P485P(2)|p.P360P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCCATCTAGTGGCCCCTGCG	0.597000													126	129					0	0	0.014410	0	0
ABCA9	10350	broad.mit.edu	37	17	67012515	67012515	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:67012515A>T	ENST00000340001.4	-	22	3129	c.2918T>A	c.(2917-2919)aTa>aAa	p.I973K	ABCA9_ENST00000370732.2_Missense_Mutation_p.I973K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I973K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	973					transport	integral to membrane	ATP binding|ATPase activity	p.I973K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTACATGCTATTGAAAATCT	0.343000													4	32					0	0	0.009096	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62751918G>T	ENST00000377871.3	-	1	511	c.245C>A	c.(244-246)aCc>aAc	p.T82N	SLC22A6_ENST00000421062.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T82N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T82N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	82					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.T82N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCGGGGAGGTGAAGCGGAG	0.662000													23	93					1.9806e-07	2.35433e-07	0.014323	1	0
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:70342515C>T	ENST00000558939.1	-	20	3617	c.2240G>A	c.(2239-2241)tGt>tAt	p.C747Y	TLE3_ENST00000451782.2_Missense_Mutation_p.C744Y|TLE3_ENST00000559929.1_Missense_Mutation_p.C757Y|TLE3_ENST00000440567.3_Missense_Mutation_p.C737Y|TLE3_ENST00000539550.1_Missense_Mutation_p.C674Y|TLE3_ENST00000560589.1_Missense_Mutation_p.C691Y|TLE3_ENST00000317509.8_Missense_Mutation_p.C735Y|TLE3_ENST00000558201.1_Missense_Mutation_p.C753Y|TLE3_ENST00000560939.1_Missense_Mutation_p.C749Y|TLE3_ENST00000558379.1_Missense_Mutation_p.C742Y|TLE3_ENST00000557907.1_Missense_Mutation_p.C739Y|TLE3_ENST00000559048.1_Missense_Mutation_p.C747Y|TLE3_ENST00000557997.1_Missense_Mutation_p.C739Y|TLE3_ENST00000559191.1_Missense_Mutation_p.C328Y|TLE3_ENST00000442299.2_Missense_Mutation_p.C739Y			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	747					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.C747Y(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAATGTCACAACTCAAGAC	0.473000													30	73					0	0	0.010818	0	0
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:9416304G>C	ENST00000328089.6	+	2	695	c.354G>C	c.(352-354)gcG>gcC	p.A118A	SPSB1_ENST00000357898.3_Silent_p.A118A|SPSB1_ENST00000377399.2_Silent_p.A118A	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	118	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.A118A(2)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGGCGACGGCAGACG	0.662000													70	50					0	0	0.014410	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509988	41509988	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:41509988G>A	ENST00000324071.4	+	2	261	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R9Q|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R45Q|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	85					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R85Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCATACGGGAGGCCCTT	0.582000													17	91					0	0	0.028581	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67218614	67218614	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:67218614G>C	ENST00000314586.6	-	13	2245	c.2005C>G	c.(2005-2007)Ctg>Gtg	p.L669V		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	669					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		p.L669V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGTTGCCGCAGGCCAGCCACC	0.716000													12	46					0	0	0.010729	0	0
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157551323G>T	ENST00000271532.1	-	7	1382	c.1247C>A	c.(1246-1248)tCa>tAa	p.S416*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	416						integral to membrane|plasma membrane	receptor activity	p.S416*(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCACAAACCTGACTTCCTCCG	0.592000													31	27					1.30897e-18	1.78951e-18	0.009535	1	0
SMURF2	64750	broad.mit.edu	37	17	62558992	62558992	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:62558992C>T	ENST00000262435.9	-	11	1296	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	370					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.R370Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AACCAGGTCTCGCTTGTACCT	0.463000													7	36					0	0	0.003080	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580996	99580996	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99580996C>A	ENST00000425474.1	+	0	317					NR_036679.1																						AGACCCTGAACAACATCATGG	0.562000													12	14					1.61879e-10	2.03953e-10	0.013537	1	0
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52511514C>A	ENST00000242839.4	-	19	4075	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ATP7B_ENST00000418097.2_Missense_Mutation_p.V1242L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V1229L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V1100L|ATP7B_ENST00000400370.3_Missense_Mutation_p.V877L|ATP7B_ENST00000417240.2_Missense_Mutation_p.V518L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V1196L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.V1307L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTAGCCACCACATCCAGCAAA	0.552000									Wilson disease				41	54					8.16277e-20	1.12346e-19	0.027894	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748388	19748388	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:19748388C>G	ENST00000222567.5	-	1	322	c.252G>C	c.(250-252)gaG>gaC	p.E84D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	84						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E84D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATCGGTACCTCTCAGAATAGC	0.562000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	0.004482	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:38796436C>A	ENST00000449105.2	-	10	1594	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	HNRNPLL_ENST00000409328.1_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000409636.1_Nonsense_Mutation_p.E414*|HNRNPLL_ENST00000378915.3_Nonsense_Mutation_p.E385*	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like									p.E419*(2)									TCCTCCAGCTCAAATATTTGA	0.368000													9	16					2.74318e-10	3.43799e-10	0.006214	1	0
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:73190390T>C	ENST00000541685.1	-	5	488	c.476A>G	c.(475-477)gAg>gGg	p.E159G	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.E159G|DPF3_ENST00000546183.1_Missense_Mutation_p.E169G	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.E159G(4)|p.E158G(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAATCCTCTTCTTCATT	0.418000													109	108					0	0	0.014410	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447589	96447589	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96447589G>T	ENST00000285979.6	+	2	430	c.231G>T	c.(229-231)ttG>ttT	p.L77F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.L77F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.L77F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGTGGTGTTGCATGGATATG	0.423000													37	75					4.62619e-21	6.41032e-21	0.019004	1	0
MUC6	4588	broad.mit.edu	37	11	1025314	1025314	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1025314G>T	ENST00000421673.2	-	23	2903	c.2853C>A	c.(2851-2853)ccC>ccA	p.P951P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	951	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.P951P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGTGGGGCTCCTCCC	0.657000													31	71					2.2171e-23	3.09615e-23	0.009535	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:155555776C>A	ENST00000295101.2	+	1	966	c.489C>A	c.(487-489)ctC>ctA	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572000													9	82					1.12685e-05	1.27383e-05	0.004482	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560240	44560240	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:44560240A>T	ENST00000332567.4	-	1	1748	c.1396T>A	c.(1396-1398)Tca>Aca	p.S466T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	466					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.S466T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGCCTCTGAGAGGTCCCAG	0.602000													20	112					0	0	0.008871	0	0
EPHB1	2047	broad.mit.edu	37	3	134851748	134851748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:134851748G>T	ENST00000398015.3	+	5	1524	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGCAGCTGGGCCTGACGGAG	0.597000													3	35					0.004672	0.00485888	0.004672	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057927	152057927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152057927G>T	ENST00000368806.1	-	3	2295	c.2231C>A	c.(2230-2232)tCa>tAa	p.S744*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	744							calcium ion binding	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCTCCTCTGATGTTACAGG	0.468000													20	157					7.87624e-14	1.04287e-13	0.016522	1	0
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677000													6	44					0	0	0.021553	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:238090596G>C	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617000													10	24					0	0	0.006214	0	0
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:40134118G>C	ENST00000181839.4	+	14	4683	c.4078G>C	c.(4078-4080)Gct>Cct	p.A1360P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1300P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1360					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.A1360P(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAGTTCTGCTCCACCACT	0.438000													30	77					0	0	0.030593	0	0
VPS4B	9525	broad.mit.edu	37	18	61060776	61060776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61060776C>T	ENST00000238497.5	-	10	1302	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	367					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.G367R(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGGGAAGGTCCGCGAACCTGA	0.388000													6	39					0	0	0.003080	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													4	54					0	0	0.009096	0	0
FBXL7	23194	broad.mit.edu	37	5	15936692	15936692	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15936692C>T	ENST00000504595.1	+	4	1354	c.873C>T	c.(871-873)caC>caT	p.H291H	FBXL7_ENST00000329673.7_Silent_p.H279H|FBXL7_ENST00000510662.1_Silent_p.H244H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.H291H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGCCTGCACACCATCGCGG	0.622000													5	35					0	0	0.014758	0	0
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:136649681G>A	ENST00000287538.5	+	1	1381	c.831G>A	c.(829-831)gaG>gaA	p.E277E	ZIC3_ENST00000370606.3_Silent_p.E277E	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	277					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E277E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCATGCATGAGCTGGTGACAC	0.617000													18	64					0	0	0.006122	0	0
ZNF516	9658	broad.mit.edu	37	18	74091694	74091694	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:74091694G>A	ENST00000443185.2	-	4	2693	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAATCCACGGGGGAGCCACGG	0.597000													7	26					0	0	0.029380	0	0
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	C	rs112168960		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52439604G>C	ENST00000242819.4	+	2	386	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507000													19	97					0	0	0.014323	0	0
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:116691596G>A	ENST00000357780.3	-	3	1292	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.P393L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCTCCAAAGGGGCCAGCAT	0.617000													10	43					0	0	0.006214	0	0
PEX6	5190	broad.mit.edu	37	6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:42934376C>T	ENST00000304611.8	-	10	2050	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597000													6	175					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152285143C>A	ENST00000368799.1	-	3	2254	c.2219G>T	c.(2218-2220)cGa>cTa	p.R740L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577000									Ichthyosis				85	638					5.02048e-33	7.16496e-33	0.014410	1	0
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78340326G>A	ENST00000255189.3	-	6	823	c.795C>T	c.(793-795)ctC>ctT	p.L265L	DMGDH_ENST00000380311.4_Silent_p.L64L|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	265					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L265L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAACCGGAATGAGAGGATGTT	0.373000													12	31					0	0	0.010729	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319507	21319507	+	Silent	SNP	C	C	A	rs143946927	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:21319507C>A	ENST00000583088.1	+	3	1748	c.853C>A	c.(853-855)Cgg>Agg	p.R285R	KCNJ12_ENST00000331718.5_Silent_p.R285R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCATCAGCCGGCAGGACCT	0.622000										Prostate(3;0.18)			10	89					3.86212e-05	4.29458e-05	0.008291	1	0
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	G	A	rs142920790	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:175957454G>A	ENST00000367669.3	-	17	2456	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RFWD2_ENST00000308769.8_Silent_p.L624L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	648					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L648L(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGAAGCCAGGCCTACAAAG	0.398000													13	20					0	0	0.016723	0	0
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27135155C>A	ENST00000343060.4	-	1	438	c.377G>T	c.(376-378)tGc>tTc	p.C126F	HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGGAGCGCACTGGGGGTA	0.567000													19	81					5.35267e-07	6.26376e-07	0.007413	1	0
PLXND1	23129	broad.mit.edu	37	3	129290609	129290609	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:129290609C>A	ENST00000393239.1	-	16	3334	c.3156G>T	c.(3154-3156)gaG>gaT	p.E1052D	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052D			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCCGACGCTCGAAGCGCA	0.667000													5	42					3.59834e-05	4.01374e-05	0.021553	1	0
SOX1	6656	broad.mit.edu	37	13	112722007	112722007	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:112722007C>T	ENST00000330949.1	+	1	95	c.35C>T	c.(34-36)tCg>tTg	p.S12L		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	12					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GACCTGCACTCGCCCGGCGGC	0.796000													5	29					0	0	0.014758	0	0
PAX3	5077	broad.mit.edu	37	2	223084905	223084905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:223084905G>T	ENST00000350526.4	-	7	1263	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	PAX3_ENST00000392070.2_Missense_Mutation_p.P376H|PAX3_ENST00000344493.4_Missense_Mutation_p.P376H|PAX3_ENST00000336840.6_Missense_Mutation_p.P376H|PAX3_ENST00000392069.2_Missense_Mutation_p.P376H|PAX3_ENST00000409551.3_Missense_Mutation_p.P375H|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	376					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P376H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTTGGAGGGCCCCGACGG	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	38					1.23904e-05	1.39404e-05	0.014758	1	0
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45410214C>G	ENST00000332700.6	-	4	1046	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAATTCTCCCTCCATCTTGG	0.502000													12	44					0	0	0.010729	0	0
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90346962G>A	ENST00000300060.6	-	8	1666	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	451	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S451S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCGGGTGGGAGGAGGCCAGTG	0.607000													19	59					0	0	0.010504	0	0
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275540C>G	ENST00000360374.2	-	1	38	c.39G>C	c.(37-39)ttG>ttC	p.L13F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTTAATCCCAAGAGGATAA	0.443000													11	30					0	0	0.008291	0	0
SMG1	23049	broad.mit.edu	37	16	18856973	18856973	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:18856973T>C	ENST00000446231.2	-	39	6409	c.5996_splice	c.e39-1	p.K1999_splice	SMG1_ENST00000389467.3_Splice_Site_p.K1999_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1999					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	p.K1995K(1)|p.K1999K(1)		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						TTTTCTCTTCTCTGACCAAGA	0.363000													8	43					0	0	0.003080	0	0
HPS5	11234	broad.mit.edu	37	11	18327041	18327041	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18327041C>T	ENST00000396253.3	-	7	945		c.e7-1		HPS5_ENST00000531848.1_Splice_Site|HPS5_ENST00000438420.2_Splice_Site|HPS5_ENST00000349215.3_Splice_Site	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5							cytosol		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGATCTAGAAAGTAA	0.343000									Hermansky-Pudlak syndrome				4	24					0	0	0.009096	0	0
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55418972C>A	ENST00000312422.2	+	1	593	c.593C>A	c.(592-594)aCa>aAa	p.T198K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T198K(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGTTGTGACAGCCAACAGT	0.453000													25	83					2.21704e-12	2.87431e-12	0.016522	1	0
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3294475G>C	ENST00000219596.1	-	7	1763	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.S395*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCATCTACCTGAGAAGTACTT	0.507000													18	77					0	0	0.006122	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:51872150G>C	ENST00000371497.5	+	2	3040	c.2153G>C	c.(2152-2154)tGc>tCc	p.C718S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.C715S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C715S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C718S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCTTCCTGCTCCAGCCCA	0.582000													22	49					0	0	0.012319	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96454680C>T	ENST00000285979.6	+	4	687	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CYP2C18_ENST00000339022.5_Missense_Mutation_p.P163L|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.P163L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTAGCCTCACCCTGTGATCCC	0.328000													20	31					0	0	0.016522	0	0
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:71004033G>A	ENST00000357250.6	-	5	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	COL9A1_ENST00000370496.3_Missense_Mutation_p.S178F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	178	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S178F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATGCCACTGGGAATCAAACAA	0.423000													20	66					0	0	0.008871	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:80546044A>G	ENST00000265361.3	-	2	615	c.54T>C	c.(52-54)tgT>tgC	p.C18C	SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000544525.1_Silent_p.C36C|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.C18C	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					immune response|response to drug	membrane	receptor activity	p.C18C(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCTTTCACACAGATAGAAC	0.348000													14	26					0	0	0.024245	0	0
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55523797C>A	ENST00000305377.5	+	1	333	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82K(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CGGCTGAACACACCAATGTAT	0.388000													29	78					6.38683e-12	8.22808e-12	0.037714	1	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:147230857C>G	ENST00000271348.2	-	2	651	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E164Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000													16	130					0	0	0.024245	0	0
TCL6	27004	broad.mit.edu	37	14	96135899	96135899	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96135899G>T	ENST00000467865.1	+	0	1833				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ttagaagcaaggcacaagtca	0.507000			T	TRA@	T-ALL								4	25					0.014758	0.0151827	0.014758	1	0
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22133522G>T	ENST00000408935.1	+	1	226	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V76F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCACTCATCTGTCACTGTGCC	0.433000													33	168					5.60225e-13	7.30284e-13	0.009535	1	0
LCK	3932	broad.mit.edu	37	1	32739958	32739958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32739958G>A	ENST00000333070.4	+	2	128	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	LCK_ENST00000336890.5_Missense_Mutation_p.E10K|LCK_ENST00000373564.3_Missense_Mutation_p.E10K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	10	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.E10K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCACACCCGGAAGATGACTG	0.562000			T	TRB@	T-ALL								8	64					0	0	0.004482	0	0
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:73213554C>T	ENST00000377110.2	-	20	3036	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	TRPM3_ENST00000396285.1_Silent_p.Q778Q|TRPM3_ENST00000408909.2_Silent_p.Q790Q|TRPM3_ENST00000423814.3_Silent_p.Q958Q|TRPM3_ENST00000358082.3_Silent_p.Q793Q|TRPM3_ENST00000377111.2_Silent_p.Q931Q|TRPM3_ENST00000396280.5_Silent_p.Q780Q|TRPM3_ENST00000377106.1_Silent_p.Q803Q|TRPM3_ENST00000396292.4_Silent_p.Q803Q|TRPM3_ENST00000377105.1_Silent_p.Q790Q|TRPM3_ENST00000357533.2_Silent_p.Q935Q|TRPM3_ENST00000360823.2_Silent_p.Q793Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	956						integral to membrane	calcium channel activity	p.Q803Q(1)|p.Q935Q(1)|p.Q931Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTCACTTTCTGTAGCAACT	0.493000													12	56					0	0	0.013537	0	0
ASIP	434	broad.mit.edu	37	20	32848288	32848288	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32848288G>A	ENST00000568305.1	+	2	310	c.108G>A	c.(106-108)ctG>ctA	p.L36L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L36L			P42127	ASIP_HUMAN	agouti signaling protein	36					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.L36L(1)		central_nervous_system(1)|lung(2)	3						ACAGGAGCCTGAGAAGCAACT	0.582000													16	106					0	0	0.033300	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390760	208390760	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:208390760C>A	ENST00000367033.3	-	2	1265	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	170	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.G170W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAATCACCCCGTACATGGTG	0.587000													34	262					5.90632e-09	7.2748e-09	0.012213	1	0
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:114185958G>A	ENST00000297405.5	-	4	946	c.702C>T	c.(700-702)atC>atT	p.I234I	CSMD3_ENST00000343508.3_Silent_p.I194I|CSMD3_ENST00000352409.3_Silent_p.I234I|CSMD3_ENST00000455883.2_Silent_p.I234I|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	234	Sushi 1.					integral to membrane|plasma membrane		p.I234I(2)|p.I194I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTCTACAGATAGGAACAG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	37					0	0	0.008871	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176995	140176995	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140176995A>T	ENST00000378132.1	+	1	2552	c.2446A>T	c.(2446-2448)Atg>Ttg	p.M816L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031495.1	NP_113683.1												p.M816L(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATTCTATATGATTTCTAC	0.284000													8	13					0	0	0.003080	0	0
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25861687A>C	ENST00000376351.3	+	7	1983	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	542						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I542L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGTTTCTCATTGGCTGGAC	0.453000													14	28					0	0	0.020292	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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.Q2741Q(3)|p.Q2742Q(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)		agcagcagcaacagcagcagc	0.602000													4	74					0	0	0.021553	0	0
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:31595220G>A	ENST00000379416.3	-	17	1778	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	577					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P577L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGGGGCAGGGGCCGGCCCAC	0.622000													39	182					0	0	0.027894	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762590	130762590	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762590C>A	ENST00000392429.1	+	2	3401	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	TMEM200A_ENST00000545622.1_Silent_p.V341V|TMEM200A_ENST00000296978.3_Silent_p.V341V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	341						integral to membrane		p.V341V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAGCCCGTCAGCACAGTGC	0.498000													6	40					5.9392e-07	6.92745e-07	0.021553	1	0
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44149840C>A	ENST00000223357.3	+	11	1600	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632000													13	40					2.27111e-07	2.68182e-07	0.013537	1	0
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40099000C>T	ENST00000261435.6	+	3	456	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	14						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.R14W(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATCCTTTTCGGAAGACTGC	0.413000													11	25					0	0	0.013537	0	0
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	G	T	rs113394891	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:194080147G>T	ENST00000347624.3	-	2	1711	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	LRRC15_ENST00000428839.1_Silent_p.A548A|LRRC15_ENST00000439944.2_Silent_p.A548A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542						integral to membrane		p.A542A(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597000													102	71					6.00224e-42	8.6004e-42	0.014410	1	0
LZTS2	84445	broad.mit.edu	37	10	102763856	102763856	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102763856G>A	ENST00000370220.1	+	2	4064	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R334Q			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	334					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAAAGCTCCGAGACCGGGAG	0.632000													15	66					0	0	0.028581	0	0
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428000													14	23					2.32078e-09	2.87584e-09	0.024245	1	0
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136512860A>T	ENST00000308191.6	+	13	1538	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q412L(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AACAAGGCCCAGTGGAAGAGC	0.637000													6	12					0	0	0.029380	0	0
PNPO	55163	broad.mit.edu	37	17	46019090	46019090	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:46019090G>C	ENST00000225573.4	+	1	154	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	PNPO_ENST00000434554.2_Missense_Mutation_p.E17Q|PNPO_ENST00000534893.1_5'UTR|PNPO_ENST00000544840.1_Missense_Mutation_p.E17Q	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	17					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GCGACCTGCCGAGTGGCCAGG	0.706000													2	3					0	0	0.004672	0	0
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149433914C>A	ENST00000286301.3	-	21	3025	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	912					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E912*(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGGCCTGCTCCTGAAGGAAG	0.612000													21	66					1.9806e-07	2.35433e-07	0.014323	1	0
IRS1	3667	broad.mit.edu	37	2	227661262	227661262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:227661262G>C	ENST00000305123.4	-	1	3213	c.2193C>G	c.(2191-2193)gaC>gaG	p.D731E		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGTTCATGTAGTCACCTGTGC	0.597000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	294					0	0	0.010729	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:31769448A>G	ENST00000240587.4	-	2	1578	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S234S(2)|p.S417S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTCATAGCAGAGTTGGTGA	0.567000													45	102					0	0	0.033182	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:35927260C>T	ENST00000490799.1	-	16	2193	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D509N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D614N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	614	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.D614N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGATCATCACAGTTGCAG	0.363000													12	59					0	0	0.013537	0	0
CRHR1	1394	broad.mit.edu	37	17	43910522	43910522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43910522G>T	ENST00000314537.5	+	9	1014	c.789G>T	c.(787-789)agG>agT	p.R263S	CRHR1_ENST00000398285.3_Missense_Mutation_p.R292S|CRHR1_ENST00000352855.5_Missense_Mutation_p.R223S|CRHR1_ENST00000339069.5_Missense_Mutation_p.R162S|CRHR1_ENST00000293493.7_Missense_Mutation_p.R88S|CRHR1_ENST00000577353.1_Missense_Mutation_p.R263S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	292					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGCAAAAGGCCTGGGGTGT	0.617000													12	133					1.36491e-13	1.7956e-13	0.016723	1	0
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214551349G>A	ENST00000366956.5	-	14	2835	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	881					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R881W(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTCTTCCCGCCCTGAGACT	0.547000													28	45					0	0	0.030593	0	0
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214557780T>A	ENST00000366956.5	-	13	1612	c.1418A>T	c.(1417-1419)aAc>aTc	p.N473I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	473					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.N473I(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCATGGGTGTTGATAATGTT	0.562000													129	138					0	0	0.014410	0	0
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1639197T>A	ENST00000252804.4	-	22	4353	c.4303A>T	c.(4303-4305)Acc>Tcc	p.T1435S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1435	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1435S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACAAATGGTGCATGCATCT	0.512000													6	4					0	0	0.029380	0	0
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:24593464C>A	ENST00000264463.4	-	2	643	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G46C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAATTTTGCCATCACTCCTT	0.418000										HNSCC(23;0.051)			6	22					0.0215528	0.0220935	0.021553	1	0
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49611952C>T	ENST00000327171.3	+	9	1318	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	GALK2_ENST00000544523.1_Silent_p.D349D|GALK2_ENST00000559454.1_Silent_p.D349D|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000396509.2_Silent_p.D349D|GALK2_ENST00000560031.1_Silent_p.D373D	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	373					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	p.D362D(2)|p.D373D(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCTGCCGGGACATGTATGAGT	0.532000													9	20					0	0	0.006214	0	0
OR2T6	254879	broad.mit.edu	37	1	248551236	248551236	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248551236G>T	ENST00000355728.2	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTATGGGGGCTGAATTCT	0.562000													13	73					0.000151284	0.000164891	0.016723	1	0
APOA5	116519	broad.mit.edu	37	11	116661394	116661394	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:116661394G>T	ENST00000542499.1	-	4	623	c.551C>A	c.(550-552)aCc>aAc	p.T184N	APOA5_ENST00000227665.4_Missense_Mutation_p.T184N	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	184					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.T184N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GAAGCGGCCGGTGTGGTGCAC	0.682000													11	35					1.33987e-11	1.71994e-11	0.008291	1	0
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:48428803C>T	ENST00000224605.2	-	2	1348	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	361					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.T361T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTTCTGCATCGTCTTCTCGT	0.612000													13	45					0	0	0.016723	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:92927019T>C	ENST00000373079.3	-	1	1548	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly	chromatin assembly complex		p.I429V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTGGCTGGATTTCAATTTCT	0.433000													4	1					0	0	0.009096	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:10967706T>C	ENST00000254488.2	+	9	1203	c.1137T>C	c.(1135-1137)ttT>ttC	p.F379F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F379F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCCTGGCCTTTATTGCGTACC	0.557000													81	261					0	0	0.014410	0	0
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78422045C>A	ENST00000274353.5	+	6	909	c.802C>A	c.(802-804)Cca>Aca	p.P268T	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.P115T	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P268T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCAGAATTCCCATTTGGTAA	0.433000													7	25					1.06961e-07	1.2821e-07	0.003080	1	0
ZNF682	91120	broad.mit.edu	37	19	20118030	20118030	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20118030G>A	ENST00000397165.2	-	4	441	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF682_ENST00000597972.1_Missense_Mutation_p.S100L|ZNF682_ENST00000358523.5_Missense_Mutation_p.S62L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.S18L|ZNF682_ENST00000397162.1_Missense_Mutation_p.S62L|ZNF682_ENST00000593468.1_3'UTR	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S94L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTTTGGAATGAATCTTGCAT	0.368000													5	17					0	0	0.014758	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31813004G>A	ENST00000334067.3	+	1	408	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament		p.S120N(2)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTGGGTCCAGCTTCTACCAC	0.473000													18	60					0	0	0.006122	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717013G>T	ENST00000279593.3	-	13	3368	c.3159C>A	c.(3157-3159)gaC>gaA	p.D1053E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1053					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1053E(2)|p.D1053D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCAAGTCGTCGTGGCCAC	0.572000													13	19					0.00010058	0.000109877	0.013537	1	0
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99308411G>T	ENST00000336374.2	-	10	972	c.970C>A	c.(970-972)Cac>Aac	p.H324N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACATCAGGGTGAGTGGCCAGT	0.448000													16	14					1.3612e-06	1.57741e-06	0.024245	1	0
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:125286264G>C	ENST00000296220.5	-	6	1131	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					lipid transport		lipid binding	p.S281*(2)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTCTGATGTGATGCATGCTG	0.418000													17	69					0	0	0.033300	0	0
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:83332601C>A	ENST00000261722.3	-	19	2538	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S796S|AP3B2_ENST00000535348.1_Silent_p.S745S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	777	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.S776S(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCGGACTCCGATGTCATCT	0.572000													15	22					1.3612e-06	1.57741e-06	0.024245	1	0
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:7805972A>G	ENST00000303635.7	+	18	4645	c.4438A>G	c.(4438-4440)Agt>Ggt	p.S1480G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1466G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S44G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1480G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCTCCCGTCAGTGAAATCGC	0.478000			T	WWTR1	epitheliod hemangioendothelioma								29	95					0	0	0.009535	0	0
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113866313C>A	ENST00000383673.2	-	4	905	c.475G>T	c.(475-477)Gta>Tta	p.V159L	DRD3_ENST00000467632.1_Missense_Mutation_p.V159L|DRD3_ENST00000295881.7_Missense_Mutation_p.V159L|DRD3_ENST00000460779.1_Missense_Mutation_p.V159L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	159					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V159L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGGCCAGTACCCAGACGGCC	0.542000													71	65					2.165e-29	3.08362e-29	0.014410	1	0
PRMT10	90826	broad.mit.edu	37	4	148582162	148582162	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:148582162G>T	ENST00000322396.6	-	7	1223	c.981C>A	c.(979-981)atC>atA	p.I327I	PRMT10_ENST00000541232.1_Silent_p.I214I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	327						cytoplasm	binding|protein methyltransferase activity	p.I327I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGGCAAATGGATACCAGCAA	0.373000													6	34					8.12818e-05	8.91358e-05	0.029380	1	0
ANKRD52	283373	broad.mit.edu	37	12	56647906	56647906	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56647906T>A	ENST00000267116.7	-	8	972	c.851A>T	c.(850-852)aAt>aTt	p.N284I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	284							protein binding	p.N284I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GAGAGCGCCATTGGTGGAGAC	0.552000													14	74					0	0	0.020292	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336924	42336924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42336924G>A	ENST00000262418.6	-	8	790	c.635C>T	c.(634-636)tCa>tTa	p.S212L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	212					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.S212L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCAGATGGTGAGTGCCCTTC	0.602000													11	59					0	0	0.010729	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912725	54912725	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54912725C>T	ENST00000293373.6	+	15	1527	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S433L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	483					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.S483L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTGAATTCTCAGGATTGAGG	0.388000													7	38					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77620118C>A	ENST00000521891.2	+	3	3376	c.2928C>A	c.(2926-2928)caC>caA	p.H976Q	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H950Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H950Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H950Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	950						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H976Q(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGTGGCTCACATTAAAGAAG	0.443000										HNSCC(33;0.089)			20	37					8.10497e-08	9.73959e-08	0.010504	1	0
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537167G>A	ENST00000394434.2	-	10	1030	c.864C>T	c.(862-864)ttC>ttT	p.F288F	LARS_ENST00000510191.1_Silent_p.F234F|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.F242F|LARS_ENST00000274562.9_Silent_p.F261F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	288	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378000													5	19					0	0	0.014758	0	0
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89890150G>C	ENST00000435811.1	-	8	1410	c.956C>G	c.(955-957)cCg>cGg	p.P319R	GABRR1_ENST00000454853.2_Missense_Mutation_p.P336R|GABRR1_ENST00000369451.3_Missense_Mutation_p.P249R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	336					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P330R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGACGCGCGGCATGGAGGC	0.532000													26	38					0	0	0.009535	0	0
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:7001425G>C	ENST00000256722.5	-	3	881	c.882C>G	c.(880-882)atC>atG	p.I294M	CMPK2_ENST00000458098.1_Missense_Mutation_p.I294M|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Missense_Mutation_p.I294M	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	294					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.I294M(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCATCAAAGATCTTCCTCC	0.448000													7	28					0	0	0.029380	0	0
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78574751C>A	ENST00000397909.2	+	30	5791	c.5618C>A	c.(5617-5619)aCc>aAc	p.T1873N	NAV3_ENST00000536525.2_Missense_Mutation_p.T1851N|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.T1851N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1674N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1851N(2)		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						TCAAGCAGCACCTCCTCTTCA	0.448000										HNSCC(70;0.22)			6	18					0.00116845	0.0012386	0.021553	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46066935C>A	ENST00000334670.8	+	1	605	c.560C>A	c.(559-561)gCc>gAc	p.A187D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	181	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.A187D(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TACCAGCAGGCCTGCTGCGTG	0.602000													58	124					6.3237e-29	8.98896e-29	0.014410	1	0
POT1	25913	broad.mit.edu	37	7	124499043	124499043	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:124499043C>G	ENST00000357628.3	-	9	1268	c.670G>C	c.(670-672)Gat>Cat	p.D224H	POT1_ENST00000393329.1_Missense_Mutation_p.D93H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	224					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.D224H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACATGGTTATCGTAGACTAAA	0.318000													4	16					0	0	0.006214	0	0
TANGO6	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68941453G>T	ENST00000261778.1	+	10	1787	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.G121V(2)|p.G592V(2)									GGTTTGGCAGGAGACTTCTTC	0.502000													12	20					6.40141e-05	7.0524e-05	0.010729	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:7578550G>C	ENST00000420246.2	-	5	512	c.380C>G	c.(379-381)tCc>tGc	p.S127C	TP53_ENST00000455263.2_Missense_Mutation_p.S127C|TP53_ENST00000269305.4_Missense_Mutation_p.S127C|TP53_ENST00000359597.4_Missense_Mutation_p.S127C|TP53_ENST00000413465.2_Missense_Mutation_p.S127C|TP53_ENST00000445888.2_Missense_Mutation_p.S127C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	14					0	0	0.006122	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:172659655C>A	ENST00000329198.4	-	2	1165	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	298					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.G298W(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCAAGTCCCCGACGCCGAAG	0.667000													9	36					0.000442599	0.000476953	0.006214	1	0
NRXN2	9379	broad.mit.edu	37	11	64374937	64374937	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64374937C>A	ENST00000265459.6	-	23	5331	c.4870G>T	c.(4870-4872)Ggc>Tgc	p.G1624C	NRXN2_ENST00000377551.1_Missense_Mutation_p.G1624C|NRXN2_ENST00000301894.2_Missense_Mutation_p.G578C|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1617C|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1554C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1624					cell adhesion	integral to membrane	metal ion binding	p.G1624C(1)|p.G578C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCACTGCGCCCGGCGGGCCC	0.736000													11	22					1.08611e-07	1.29969e-07	0.010729	1	0
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:157820536G>T	ENST00000490689.2	-	2	1632	c.99C>A	c.(97-99)acC>acA	p.T33T	SHOX2_ENST00000483851.2_Silent_p.T162T|SHOX2_ENST00000389589.4_Silent_p.T186T|SHOX2_ENST00000441443.2_Silent_p.T33T|SHOX2_ENST00000425436.3_Silent_p.T162T|SHOX2_ENST00000554685.1_5'UTR			O60902	SHOX2_HUMAN	short stature homeobox 2	162					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T33T(2)|p.T186T(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGGATAGTGGGTCTCGTCAA	0.597000													77	69					8.70598e-44	1.2487e-43	0.014410	1	0
CCR2	729230	broad.mit.edu	37	3	46401302	46401302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:46401302C>A	ENST00000292301.4	+	3	1561	c.1076C>A	c.(1075-1077)tCa>tAa	p.S359*	CCR2_ENST00000400888.2_Nonsense_Mutation_p.S359*	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	359					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.S359*(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAAGGAAAGTCAATTGGCAGA	0.493000													6	49					0.0215528	0.0220935	0.021553	1	0
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24901483G>T	ENST00000251343.5	+	3	1155	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	KHNYN_ENST00000553935.1_Missense_Mutation_p.R339L|KHNYN_ENST00000556842.1_Missense_Mutation_p.R339L			O15037	KHNYN_HUMAN	KH and NYN domain containing	339								p.R339L(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCTCAGTCCCGAGGAGCCTCC	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	58					9.84934e-19	1.3478e-18	0.010771	1	0
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104171922G>T	ENST00000374861.3	+	3	2114	c.1830G>T	c.(1828-1830)tgG>tgT	p.W610C	ZNF189_ENST00000259395.4_Missense_Mutation_p.W582C|ZNF189_ENST00000339664.2_Missense_Mutation_p.W624C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W624C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACAGCATGGATGCAATAAA	0.393000													7	23					2.0095e-06	2.31927e-06	0.029380	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:75003878G>T	ENST00000373359.2	-	1	1201	c.1009C>A	c.(1009-1011)Cta>Ata	p.L337I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2.							p.L337I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCCAATAGCTCATCCTGA	0.418000													9	36					0.00448238	0.00469239	0.004482	1	0
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61554281T>A	ENST00000263102.6	-	8	1411	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCCGGGGAATTGTAATAAGAC	0.448000			T	RET	NSCLC								21	29					0	0	0.010504	0	0
OSBPL6	114880	broad.mit.edu	37	2	179209051	179209051	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179209051G>A	ENST00000392505.2	+	12	1570	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000315022.2_Silent_p.R321R|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000190611.4_Intron|OSBPL6_ENST00000359685.3_Intron	NM_001201480.1	NP_001188409.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	329					lipid transport		lipid binding	p.R342R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCACAACTCGGCGCCGGCAGA	0.542000													29	47					0	0	0.030593	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													14	69					0	0	0.016723	0	0
BRINP3	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:190068179G>T	ENST00000367462.3	-	8	1501	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	FAM5C_ENST00000534846.1_Missense_Mutation_p.H322N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		424						extracellular region		p.H424N(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGCACGAGTGCGTCTCTTCT	0.552000													11	25					4.68919e-08	5.66825e-08	0.008291	1	0
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:27086965C>A	ENST00000480456.1	+	10	1428	c.878C>A	c.(877-879)aCa>aAa	p.T293K	JAM2_ENST00000425221.2_Missense_Mutation_p.T257K|JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000312957.5_Missense_Mutation_p.T293K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.T293K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAAGCACACAAAATCCTTT	0.274000													10	15					0.000442599	0.000476953	0.006214	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:39990940G>A	ENST00000332312.3	-	4	1461	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						proteinaceous extracellular matrix		p.L423L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGGCAGCAGAGAGCCTCGTAA	0.642000													20	107					0	0	0.008871	0	0
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:133403100T>A	ENST00000329321.3	+	2	1752	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L428H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGAGTCTCGAGTCACTA	0.532000													31	49					0	0	0.012213	0	0
RBM19	9904	broad.mit.edu	37	12	114384250	114384250	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:114384250T>C	ENST00000545145.2	-	12	1516	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	RBM19_ENST00000392561.3_Missense_Mutation_p.I480V|RBM19_ENST00000261741.5_Missense_Mutation_p.I480V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.I480V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTTCTTGATGGTAGATGGT	0.562000													7	30					0	0	0.003080	0	0
MED12L	116931	broad.mit.edu	37	3	150881826	150881826	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150881826G>T	ENST00000474524.1	+	8	1292	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	MED12L_ENST00000309237.4_Missense_Mutation_p.Q418H|MED12L_ENST00000422248.2_Missense_Mutation_p.Q418H|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	418					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q418H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCAATCAGCAGGTAGACT	0.512000													6	105					0.00116845	0.0012386	0.021553	1	0
DOCK2	1794	broad.mit.edu	37	5	169267790	169267790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:169267790C>G	ENST00000256935.8	+	27	2813	c.2733C>G	c.(2731-2733)atC>atG	p.I911M	DOCK2_ENST00000520908.1_Missense_Mutation_p.I403M|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	911					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.I911M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGAGATCATGGTCCAGC	0.473000													3	28					0	0	0.004672	0	0
LAMA5	3911	broad.mit.edu	37	20	60890259	60890259	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:60890259C>A	ENST00000252999.3	-	59	7938	c.7872G>T	c.(7870-7872)gaG>gaT	p.E2624D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2624	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.E2624D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTGCTTGTCTCGTCTGTGG	0.622000													12	31					4.36969e-10	5.44308e-10	0.016723	1	0
RPLP0P2	113157	broad.mit.edu	37	11	61405157	61405157	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61405157G>A	ENST00000496593.1	+	0	1761					NR_002775.2																						TGCaaaacaaggaaataaagg	0.333000													4	19					0	0	0.009096	0	0
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:59112366T>A	ENST00000395153.3	+	4	1061	c.914T>A	c.(913-915)aTt>aAt	p.I305N	DACT1_ENST00000335867.4_Missense_Mutation_p.I342N|DACT1_ENST00000395151.3_Missense_Mutation_p.I61N|DACT1_ENST00000541264.2_Missense_Mutation_p.I61N|DACT1_ENST00000556859.1_Missense_Mutation_p.I61N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	342					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.I342N(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GATGGCTACATTCTGAGCCTG	0.517000													27	23					0	0	0.024334	0	0
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:71800926T>C	ENST00000373545.3	-	32	3910	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	PHKA1_ENST00000373539.3_Missense_Mutation_p.M1217V|PHKA1_ENST00000373542.4_Missense_Mutation_p.M1200V|PHKA1_ENST00000541944.1_Missense_Mutation_p.M1128V|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1187V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1200					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M1200V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTAGGTCATGGTGCCAAAC	0.562000													5	13					0	0	0.021553	0	0
DDX17	10521	broad.mit.edu	37	22	38891885	38891885	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38891885C>A	ENST00000396821.3	-	6	895	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	DDX17_ENST00000381633.3_Missense_Mutation_p.D187Y|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	187	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D266Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGCCATAGTCATCGGCCACC	0.438000													15	97					1.15088e-07	1.37146e-07	0.028581	1	0
GPRIN1	114787	broad.mit.edu	37	5	176025235	176025235	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:176025235T>A	ENST00000303991.4	-	2	1778	c.1601A>T	c.(1600-1602)aAg>aTg	p.K534M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	534						growth cone|plasma membrane		p.K534M(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGCCGCCTTTCCAGAGGC	0.662000													27	58					0	0	0.037714	0	0
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:66357977T>A	ENST00000333861.3	-	1	2577	c.2510A>T	c.(2509-2511)cAc>cTc	p.H837L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837								p.H837L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGTTGACTGGTGGGGATCCTT	0.577000													97	193					0	0	0.014410	0	0
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15366997C>G	ENST00000263377.2	-	9	1850	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.K543N|BRD4_ENST00000360016.5_Missense_Mutation_p.K543N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	543	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.K543N(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tcttttccttcttgtctttct	0.433000			T	C15orf55	lethal midline carcinoma of young people								16	52					0	0	0.024245	0	0
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42176906G>T	ENST00000520810.1	+	14	1669	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E493*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E436*|IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E272*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	495					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.E495*(2)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GATTGACCTGGAGAAGTACAG	0.428000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	38					8.24728e-16	1.11261e-15	0.024334	1	0
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125486593G>A	ENST00000259466.1	+	1	325	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATGGCATTTGGGAACACTGA	0.473000													39	50					0	0	0.023175	0	0
METTL13	51603	broad.mit.edu	37	1	171756899	171756899	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171756899G>A	ENST00000361735.3	+	4	1404	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	METTL13_ENST00000367737.5_Missense_Mutation_p.D224N|METTL13_ENST00000362019.3_Missense_Mutation_p.D294N|METTL13_ENST00000458517.1_Missense_Mutation_p.D379N	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	380							methyltransferase activity|protein binding	p.D380N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGTGGGTGGGGACATTGGGGT	0.502000													5	43					0	0	0.029380	0	0
MIR9-3	407051	broad.mit.edu	37	15	89911264	89911264	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89911264C>G	ENST00000385084.1	+	0	17					NR_029692.1																						CCGTTTCTCTCTTTGGTTATC	0.617000													6	22					0	0	0.029380	0	0
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:170112651T>A	ENST00000263816.3	-	19	3020	c.2735A>T	c.(2734-2736)cAg>cTg	p.Q912L	LRP2_ENST00000443831.1_Missense_Mutation_p.Q775L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	912					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Q912L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTGTCATCTGCTCTATATG	0.363000													23	23					0	0	0.018920	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751805	140751805	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140751805G>T	ENST00000576222.1	+	1	1975	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCCGGGCTGTTCAGC	0.687000													14	85					9.31168e-06	1.05764e-05	0.016723	1	0
IGHM	3507	broad.mit.edu	37	14	106321585	106321585	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:106321585C>T	ENST00000390559.2	-	0	648																											GGTCACTCACCGGGGCCACAC	0.637000													5	17					0	0	0.014758	0	0
KIAA0247	9766	broad.mit.edu	37	14	70170156	70170156	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:70170156C>T	ENST00000342745.4	+	3	479	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	56	Sushi.					integral to membrane		p.H56Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTACATCTGCCACCCCCGGCC	0.572000													14	146					0	0	0.020292	0	0
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:25589787C>A	ENST00000269141.3	-	5	1019	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CDH2_ENST00000399380.3_Missense_Mutation_p.G168V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	199	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G199V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTCCTGGCCCAGTTACACT	0.488000													13	46					1.5842e-08	1.9379e-08	0.016723	1	0
SH3BP4	23677	broad.mit.edu	37	2	235962399	235962399	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235962399C>T	ENST00000409212.1	+	6	3338	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	SH3BP4_ENST00000392011.2_Missense_Mutation_p.S944F|SH3BP4_ENST00000344528.4_Missense_Mutation_p.S944F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	944					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.S944F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTGAACTCCCTGGACGTT	0.597000													14	107					0	0	0.016723	0	0
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178040602C>G	ENST00000316308.4	-	7	866	c.698G>C	c.(697-699)gGt>gCt	p.G233A		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G233A(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACAAACATGACCATGATGATC	0.348000													9	33					0	0	0.004482	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140308879G>A	ENST00000253807.2	+	1	2402	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R801K|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2												p.R801K(2)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGGAATAGGAAAGGGGAT	0.448000													14	50					0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179612234	179612234	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179612234G>C	ENST00000360870.5	-	46	15115	c.14893C>G	c.(14893-14895)Cct>Gct	p.P4965A	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1082	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACTCAGGAGAAAGTGGA	0.393000													11	69					0	0	0.008291	0	0
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:33673054C>G	ENST00000354992.2	-	15	2636	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	LARGE_ENST00000337431.2_Missense_Mutation_p.D637H|LARGE_ENST00000437602.2_Missense_Mutation_p.D640H|LARGE_ENST00000397394.2_Missense_Mutation_p.D689H|LARGE_ENST00000402320.1_Missense_Mutation_p.D637H|LARGE_ENST00000452586.2_Missense_Mutation_p.D488H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	689					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.D689H(1)		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)				ACCTGCACATCCAGCTCCATG	0.532000													10	44					0	0	0.006214	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762481	140762481	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140762481G>C	ENST00000518325.1	+	1	15	c.15G>C	c.(13-15)ccG>ccC	p.P5P	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1												p.P5P(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCAGCCGAGGGGCGGGG	0.612000											OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	83					0	0	0.020292	0	0
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90642323G>T	ENST00000257749.4	-	9	3037	c.2330C>A	c.(2329-2331)cCc>cAc	p.P777H	BACH2_ENST00000343122.3_Missense_Mutation_p.P777H|BACH2_ENST00000537989.1_Missense_Mutation_p.P777H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	777						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P777H(4)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGTCCGGGGGGAGCCGC	0.632000													53	45					1.51943e-15	2.04209e-15	0.014410	1	0
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104120405G>T	ENST00000361355.4	+	11	1900	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	428					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G428G(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGATAATGGGAGCAACCAAG	0.348000													16	62					2.48551e-13	3.25483e-13	0.033300	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565707	33565707	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:33565707T>A	ENST00000321505.4	+	1	1887	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D569E|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D569E					KIAA1549-like									p.D569E(2)									ATGGAACAGATACAGGTTCTG	0.453000													12	62					0	0	0.010729	0	0
CDK11A	728642	broad.mit.edu	37	1	1647827	1647827	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:1647827T>A	ENST00000356200.3	-	4	578	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	CDK11A_ENST00000378633.1_Missense_Mutation_p.Q139L|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q139L|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q115L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q139L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q149L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q139L|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A									p.E149V(1)|p.Q139L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTTCTCTTCTGTCTTTCCCA	0.502000													15	70					0	0	0.012319	0	0
PKD1	5310	broad.mit.edu	37	16	2159683	2159683	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:2159683G>A	ENST00000262304.4	-	15	5693	c.5485C>T	c.(5485-5487)Ctg>Ttg	p.L1829L	PKD1_ENST00000423118.1_Silent_p.L1829L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1829	PKD 14.				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						CCCGTGGCCAGCTGCCCCCAA	0.672000													3	7					0	0	0.004672	0	0
LAMP5	24141	broad.mit.edu	37	20	9498764	9498764	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:9498764C>G	ENST00000246070.2	+	5	1045	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q141E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	185						integral to membrane		p.Q185E(1)									GTGTCAAGCTCAACAAACCAT	0.522000													8	61					0	0	0.004482	0	0
DUSP28	285193	broad.mit.edu	37	2	241500167	241500167	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241500167C>G	ENST00000405954.1	+	1	449	c.66C>G	c.(64-66)gtC>gtG	p.V22V	DUSP28_ENST00000343217.2_Silent_p.V22V|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Silent_p.A67A|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Intron			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	22							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V22V(1)		lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TGGTGCGCGTCGCGCCCTCAC	0.746000													3	4					0	0	0.009096	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289811	68289811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68289811G>A	ENST00000219345.5	+	5	728	c.645G>A	c.(643-645)tgG>tgA	p.W215*	PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.W121*|PLA2G15_ENST00000566188.1_Missense_Mutation_p.E174K|PLA2G15_ENST00000444212.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	215					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	p.W215*(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGCAGGCCTGGAAGGACAAGT	0.632000													14	34					0	0	0.024245	0	0
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:4186205C>T	ENST00000396981.2	-	5	603	c.438G>A	c.(436-438)agG>agA	p.R146R	UBE2G1_ENST00000572484.1_Silent_p.R75R	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R146R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTCTATCTTCCCTCCATTCTT	0.323000													3	6					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													45	61					0	0	0.036044	0	0
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76349447T>A	ENST00000263187.3	+	15	2152	c.2048T>A	c.(2047-2049)aTg>aAg	p.M683K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	683					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.M683K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGACCAAACATGAGTGGAAAA	0.343000								Mismatch excision repair (MMR)					8	18					0	0	0.006214	0	0
DOCK4	9732	broad.mit.edu	37	7	111379521	111379521	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:111379521T>A	ENST00000428084.1	-	48	5325	c.5053A>T	c.(5053-5055)Acc>Tcc	p.T1685S	DOCK4_ENST00000437633.1_Missense_Mutation_p.T1676S|DOCK4_ENST00000494651.2_Missense_Mutation_p.T559S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1676	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.T1676S(1)|p.T1673S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGCTTGAGGTAGATGGACTT	0.468000													2	0					0	0	0.004672	0	0
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:146256096C>A	ENST00000367503.3	-	13	3335	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	SHPRH_ENST00000367505.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q979H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q979H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	979					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.Q979H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GACAGCAGGCCTGTCTGAGCC	0.443000													17	18					4.14922e-12	5.35987e-12	0.028581	1	0
NXF4	55999	broad.mit.edu	37	X	101818873	101818873	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:101818873G>A	ENST00000360035.2	+	0	1157					NR_002216.1													p.S138S(1)		endometrium(2)|lung(8)	10						AGCTGAAGTCGGCTTGGGAGT	0.552000													4	14					0	0	0.009096	0	0
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54456044G>A	ENST00000296734.6	+	1	48	c.24G>A	c.(22-24)ccG>ccA	p.P8P	GPX8_ENST00000503787.1_Silent_p.P8P|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000515370.1_Silent_p.P8P|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron			Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGCTTACCCGCTAAAATGTT	0.443000													8	24					0	0	0.004482	0	0
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:151170615G>T	ENST00000394123.3	+	4	488	c.343G>T	c.(343-345)Gct>Tct	p.A115S	G3BP1_ENST00000356245.3_Missense_Mutation_p.A115S|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	115	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.A115S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTTTGTCCTTGCTCCTGAGGT	0.393000													8	32					5.18039e-06	5.92637e-06	0.003080	1	0
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29600034C>T	ENST00000431530.3	+	1	1287	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	400						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S410F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACAGGGCTCTGCTTCCTTA	0.547000													5	14					0	0	0.014758	0	0
PALD1	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72292391C>A	ENST00000263563.6	+	6	916	c.648C>A	c.(646-648)gcC>gcA	p.A216A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A216A(1)									ACGACTTTGCCCAGCTGAGCG	0.587000													21	102					4.35082e-09	5.37277e-09	0.010504	1	0
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:44703735G>A	ENST00000339042.4	+	1	487	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A119A(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTGCCTTGCGTACCTCATGA	0.587000													14	46					0	0	0.024245	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64815843G>A	ENST00000358658.3	-	9	1240	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R364C|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R456C|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R370C	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	405	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R405C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATTGATCTGCGAGGACGCCAG	0.597000													14	44					0	0	0.020292	0	0
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:22363185C>A	ENST00000397121.2	-	3	1651	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G445V(2)		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)				GGGTTTCTCTCCAGCATGAAT	0.428000													17	42					1.15088e-07	1.37146e-07	0.028581	1	0
WIPF1	7456	broad.mit.edu	37	2	175436880	175436880	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175436880G>C	ENST00000392547.2	-	5	752	c.653C>G	c.(652-654)aCt>aGt	p.T218S	WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S|WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGGGGAGGAGTGGGCCCGGG	0.657000													10	99					0	0	0.010729	0	0
HDC	3067	broad.mit.edu	37	15	50534775	50534775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50534775G>T	ENST00000267845.3	-	12	2073	c.1671C>A	c.(1669-1671)gcC>gcA	p.A557A	HDC_ENST00000543581.1_Silent_p.A524A	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	557					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGGCATCTGGGGCCTCTTCTG	0.542000													45	98					2.35958e-20	3.25696e-20	0.036044	1	0
SPON2	10417	broad.mit.edu	37	4	1165838	1165838	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:1165838C>T	ENST00000290902.5	-	2	354	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	SPON2_ENST00000431380.1_Missense_Mutation_p.A8T	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	8					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCCAGGGCGGCGGCCGGGCTG	0.726000													7	26					0	0	0.003080	0	0
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:98807550C>T	ENST00000266058.4	-	16	1776	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V511M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	511	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V511M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGACAGACCACGTCGCTGTTG	0.647000													31	55					0	0	0.034045	0	0
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25887236C>A	ENST00000376351.3	+	11	3040	c.2681C>A	c.(2680-2682)cCa>cAa	p.P894Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	894						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P894Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGGGCACCCACGAACATCG	0.517000													19	81					5.3912e-06	6.15769e-06	0.006122	1	0
DNHD1	144132	broad.mit.edu	37	11	6588332	6588332	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6588332A>T	ENST00000254579.6	+	36	12157	c.11593A>T	c.(11593-11595)Agc>Tgc	p.S3865C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3865C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3865					microtubule-based movement	dynein complex	microtubule motor activity	p.S3865C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGGCCCTAAGCCAACTGCA	0.507000													14	73					0	0	0.016723	0	0
PGBD2	267002	broad.mit.edu	37	1	249210873	249210873	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249210873G>T	ENST00000539153.1	+	4	336	c.81G>T	c.(79-81)atG>atT	p.M27I	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.M30I|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30								p.M30I(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAATGCTATGGAGGAGGAAG	0.478000													7	36					0.00307968	0.00323819	0.003080	1	0
SCLY	51540	broad.mit.edu	37	2	239006934	239006934	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:239006934G>C	ENST00000254663.6	+	12	1442	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	SCLY_ENST00000555827.1_Missense_Mutation_p.E426Q|SCLY_ENST00000429612.2_Missense_Mutation_p.E220Q|SCLY_ENST00000422984.2_Missense_Mutation_p.E332Q	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	426					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	p.E426Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACCAGGGCCGAGGTGGACCT	0.716000													16	18					0	0	0.024245	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628913	84628913	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:84628913C>G	ENST00000284136.6	-	17	2220	c.2177G>C	c.(2176-2178)aGc>aCc	p.S726T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	726					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGGTCGAGGCTGAAGTTTGG	0.512000													7	40					0	0	0.029380	0	0
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:150912332C>A	ENST00000329903.4	+	6	1390	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R453S(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAAGTGCGCATCTTCCA	0.507000													13	37					9.31168e-06	1.05764e-05	0.016723	1	0
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94544950C>A	ENST00000370225.3	-	9	1253	c.1167G>T	c.(1165-1167)gcG>gcT	p.A389A	ABCA4_ENST00000535735.1_Silent_p.A389A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	389					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A389A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGCTTTGCCGCCCTCCAAG	0.473000													20	36					5.35267e-07	6.26376e-07	0.007413	1	0
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:232894773C>T	ENST00000325385.7	+	5	625	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117S|DIS3L2_ENST00000409307.1_Missense_Mutation_p.P117S|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117S|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	117							exonuclease activity|ribonuclease activity|RNA binding	p.P117S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAAACTGCTTCCCGAGGAGCA	0.428000													26	20					0	0	0.018920	0	0
TREX1	11277	broad.mit.edu	37	3	48508518	48508518	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:48508518G>C	ENST00000296443.9	+	3	1351	c.464G>C	c.(463-465)aGc>aCc	p.S155T	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Missense_Mutation_p.S16T|TREX1_ENST00000422277.2_Missense_Mutation_p.S210T|TREX1_ENST00000456089.1_Missense_Mutation_p.S16T|TREX1_ENST00000444177.1_Missense_Mutation_p.S145T|TREX1_ENST00000436480.2_Missense_Mutation_p.S155T			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	210					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTGTGGATAGCATCACTGCG	0.602000													10	63					0	0	0.006214	0	0
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:98242849C>G	ENST00000430669.2	-	6	1155	c.570G>C	c.(568-570)tgG>tgC	p.W190C	PTCH1_ENST00000375274.2_Missense_Mutation_p.W255C|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Missense_Mutation_p.W105C|PTCH1_ENST00000437951.1_Missense_Mutation_p.W190C|PTCH1_ENST00000418258.1_Missense_Mutation_p.W105C|PTCH1_ENST00000331920.6_Missense_Mutation_p.W256C|PTCH1_ENST00000421141.1_Missense_Mutation_p.W105C			Q13635	PTC1_HUMAN	patched 1	256					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W256C(4)|p.W255C(4)|p.W256*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGAAGTTTGTCCACCGCAAAG	0.458000													12	34					0	0	0.010729	0	0
FLT1	2321	broad.mit.edu	37	13	28880878	28880878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28880878G>T	ENST00000282397.4	-	29	4003	c.3752C>A	c.(3751-3753)gCc>gAc	p.A1251D	FLT1_ENST00000540678.1_Missense_Mutation_p.A469D|FLT1_ENST00000543394.1_Missense_Mutation_p.A274D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1251					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A1251D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATGGGAGAGGCCAACAGAGT	0.547000													6	33					5.9392e-07	6.92745e-07	0.021553	1	0
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:65357812G>A	ENST00000373758.4	+	4	394	c.211G>A	c.(211-213)Gct>Act	p.A71T	REEP3_ENST00000298249.4_Missense_Mutation_p.A56T	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71						integral to membrane		p.A71T(2)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAGATTGCTTTTGTCAT	0.348000													15	36					0	0	0.028581	0	0
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	67										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602000													5	43					0	0	0.021553	0	0
TENM4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:78412823T>C	ENST00000278550.7	-	28	5297	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.Y1612C(4)									GTCCCCAGTGTAGGTGAAGTT	0.537000													29	106					0	0	0.034045	0	0
ZP4	57829	broad.mit.edu	37	1	238050702	238050702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:238050702G>A	ENST00000366570.4	-	5	871	c.713C>T	c.(712-714)cCa>cTa	p.P238L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	238	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P238L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAAGTAAATGGAAACTGGAA	0.522000													14	92					0	0	0.033300	0	0
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:86868907G>C	ENST00000373119.4	+	2	595	c.450G>C	c.(448-450)atG>atC	p.M150I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M150I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	150						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M150I(4)		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						CTGAAGACATGAATGCCACCA	0.338000													5	9					0	0	0.021553	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:107298654C>A	ENST00000374781.2	-	1	483	c.441G>T	c.(439-441)atG>atT	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000													29	48					2.61193e-14	3.47125e-14	0.009535	1	0
DNAH7	56171	broad.mit.edu	37	2	196664137	196664137	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:196664137T>A	ENST00000312428.6	-	55	10336	c.10236A>T	c.(10234-10236)ccA>ccT	p.P3412P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3412	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3412P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAGGGGGGTGGTTCAATGA	0.428000													11	81					0	0	0.010729	0	0
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:129996686G>A	ENST00000263574.5	+	8	1254	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	APLP2_ENST00000543137.1_Silent_p.K301K|APLP2_ENST00000539648.1_Silent_p.K182K|APLP2_ENST00000278756.7_Silent_p.K404K|APLP2_ENST00000528499.1_Silent_p.K338K|APLP2_ENST00000345598.5_Silent_p.K165K|APLP2_ENST00000338167.5_Silent_p.K394K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.K394K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGAAGGCTAAGGAGCAGCTGG	0.468000													52	105					0	0	0.014410	0	0
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:43292056G>T	ENST00000374518.4	+	10	1427	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	455					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.G455V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGATGACGGGTTGGAAAAC	0.438000													7	29					0.00198382	0.00209054	0.029380	1	0
MFSD11	79157	broad.mit.edu	37	17	74740468	74740468	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74740468C>T	ENST00000588460.1	+	7	2603	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MFSD11_ENST00000590514.1_Silent_p.F187F|MFSD11_ENST00000586622.1_Silent_p.F187F|MFSD11_ENST00000593181.1_Silent_p.F135F|MFSD11_ENST00000336509.4_Silent_p.F187F|MFSD11_ENST00000355954.3_Silent_p.F135F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	187						integral to membrane		p.F187F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGTTCTATTCTTTCTCATTC	0.418000													11	64					0	0	0.008291	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247065962C>T	ENST00000366508.1	-	8	1223	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E328K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E337K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	328	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E328K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATCTTTCTTCACAGTATTCT	0.368000													15	66					0	0	0.028581	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:116949479C>T	ENST00000229554.5	+	3	1746	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.L537L	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	537	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.L537L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGATTGATCTAGTAGAATC	0.428000									Kartagener syndrome				13	49					0	0	0.020292	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:71039605C>A	ENST00000272367.2	-	5	1589	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A505S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	505	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.A505S(2)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCACAGATGCCAGATGGGCT	0.512000													39	34					4.0492e-12	5.24014e-12	0.027894	1	0
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18313334C>T	ENST00000396253.3	-	15	2215	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	HPS5_ENST00000438420.2_Missense_Mutation_p.E585K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E699K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	699						cytosol		p.E699K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGATTCTTCATTGCCTAAA	0.363000									Hermansky-Pudlak syndrome				14	41					0	0	0.016723	0	0
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:45002126C>A	ENST00000372176.1	-	16	1532	c.1064G>T	c.(1063-1065)cGa>cTa	p.R355L	ELMO2_ENST00000290246.6_Missense_Mutation_p.R443L|ELMO2_ENST00000439931.2_Missense_Mutation_p.R455L|ELMO2_ENST00000396391.1_Missense_Mutation_p.R443L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R260L|ELMO2_ENST00000454865.2_Missense_Mutation_p.R175L|ELMO2_ENST00000352077.2_Missense_Mutation_p.R441L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.R443L(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCAAAGGCTCGGTCATGGGT	0.498000													18	52					5.3912e-06	6.15769e-06	0.006122	1	0
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:44503035G>T	ENST00000260649.6	+	1	437	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G121W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	121					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.G121W(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTGGCAGGAGGGGCCCATGTA	0.542000													42	57					1.00001e-27	1.41725e-27	0.036044	1	0
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50555455T>A	ENST00000267845.3	-	2	583	c.181A>T	c.(181-183)Att>Ttt	p.I61F	HDC_ENST00000543581.1_Missense_Mutation_p.I61F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	61					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.I61F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATTCGTTCAATGTCCCCAAAG	0.597000													46	123					0	0	0.011902	0	0
PRNP	5621	broad.mit.edu	37	20	4680383	4680383	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:4680383A>C	ENST00000379440.4	+	2	804	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PRNP_ENST00000430350.2_Missense_Mutation_p.N173H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	173	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.N173H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CAGCAACCAGAACAACTTTGT	0.493000													8	48					0	0	0.003080	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035128	107035128	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:107035128G>A	ENST00000390626.2	-	0	93																											TTGGAGAACAGCCAGGAGGAG	0.577000													5	9					0	0	0.014758	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870201	36870201	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36870201G>T	ENST00000279024.4	-	3	603	c.332C>A	c.(331-333)cCc>cAc	p.P111H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCCTCCTGGGGCTCCACTTG	0.562000													19	102					2.94398e-08	3.57073e-08	0.007413	1	0
KMT2D	8085	broad.mit.edu	37	12	49435132	49435132	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:49435132C>A	ENST00000301067.7	-	31	6420	c.6421G>T	c.(6421-6423)Ggg>Tgg	p.G2141W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1871W(1)|p.G2141W(1)									TTCAGGAACCCGTCCGCAGAG	0.711000													7	12					0.00198382	0.00209054	0.029380	1	0
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71227747T>A	ENST00000554752.2	-	3	972	c.973A>T	c.(973-975)Atg>Ttg	p.M325L	MAP3K9_ENST00000554146.1_Missense_Mutation_p.M62L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.M325L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.M19L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.M325L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	325	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.M325L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGAAAACATGGAGGCCCGG	0.557000													74	64					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25473971	25473971	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:25473971G>T	ENST00000453082.2	+	0	1283					NR_003343.1																						ACAGGCCCCAGGCCAATGTCT	0.572000													3	12					6.4e-05	7.0524e-05	0.004672	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57995949C>T	ENST00000316770.2	-	1	441	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612000													13	22					0	0	0.013537	0	0
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99227767G>T	ENST00000375249.4	+	3	736	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	221					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	p.G221W(2)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAGATATGGTGGGAATGACAA	0.418000													23	47					1.64293e-13	2.15739e-13	0.018920	1	0
SRCAP	10847	broad.mit.edu	37	16	30732215	30732215	+	Missense_Mutation	SNP	G	G	T	rs141288104		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:30732215G>T	ENST00000262518.4	+	20	3554	c.3169G>T	c.(3169-3171)Ggg>Tgg	p.G1057W	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057W|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			CTCACCTGCCGGGCCCCCGCT	0.637000													14	68					1.5842e-08	1.9379e-08	0.016723	1	0
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180166157C>A	ENST00000307832.2	-	1	942	c.902G>T	c.(901-903)tGg>tTg	p.W301L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W301L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTACTTTCCACAGAGCCCC	0.418000													17	83					1.67942e-08	2.04737e-08	0.006122	1	0
ENOX1	55068	broad.mit.edu	37	13	43930179	43930179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:43930179C>A	ENST00000261488.6	-	8	1276	c.699G>T	c.(697-699)agG>agT	p.R233S	ENOX1_ENST00000540032.1_Missense_Mutation_p.R46S|ENOX1_ENST00000412891.1_Missense_Mutation_p.R233S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	233					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R233S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCACGCATCCTCTGCTTGC	0.617000													19	156					5.35267e-07	6.26376e-07	0.007413	1	0
ATRNL1	26033	broad.mit.edu	37	10	116925403	116925403	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:116925403C>G	ENST00000355044.3	+	7	1216	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	364						integral to membrane	sugar binding	p.Q364E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTTTATATCAGGTATGGCT	0.313000													3	20					0	0	0.004672	0	0
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:26155990G>T	ENST00000381655.2	+	23	2183	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.D641Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	641					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D681Y(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATAGAAGATCGCCTTCA	0.393000													18	28					3.52763e-06	4.04857e-06	0.033300	1	0
SENP7	57337	broad.mit.edu	37	3	101056447	101056447	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:101056447C>T	ENST00000394095.2	-	17	2439	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SENP7_ENST00000394091.1_Missense_Mutation_p.E632K|SENP7_ENST00000394094.2_Missense_Mutation_p.E731K|SENP7_ENST00000314261.7_Missense_Mutation_p.E730K|SENP7_ENST00000348610.3_Missense_Mutation_p.E763K|SENP7_ENST00000358203.3_Missense_Mutation_p.E632K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	796	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.E730K(1)|p.E796K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACAAGTTCATCTGATGCC	0.318000													6	46					0	0	0.021553	0	0
ADAM17	6868	broad.mit.edu	37	2	9633917	9633917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:9633917C>T	ENST00000310823.3	-	16	2134	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	651	Crambin-like.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.R651Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATCCCAAAATCGTTCAATTAC	0.378000													3	19					0	0	0.004672	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018004	101018004	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:101018004T>C	ENST00000537247.1	+	10	2063	c.1109T>C	c.(1108-1110)tTg>tCg	p.L370S	GAS2L3_ENST00000266754.5_Missense_Mutation_p.L474S|GAS2L3_ENST00000539410.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L474S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	474					cell cycle arrest			p.L474S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAGTATTTGAAACATAAT	0.403000													5	35					0	0	0.014758	0	0
MIR508	574513	broad.mit.edu	37	X	146318520	146318520	+	RNA	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:146318520A>G	ENST00000384857.1	-	0	25					NR_030235.1																						CCTCTGGAGTAGGGCACTACA	0.433000													5	14					0	0	0.014758	0	0
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007293C>T	ENST00000332249.4	-	1	922	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275I(2)|p.V290I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATGGACATGATGGGGT	0.502000													5	13					0	0	0.014758	0	0
EGFR	1956	broad.mit.edu	37	7	55259501	55259501	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55259501C>T	ENST00000275493.2	+	21	2736	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	EGFR_ENST00000455089.1_Silent_p.I808I|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.I800I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	853	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I853I(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGTCAAGATCACAGATTTTG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	64					0	0	0.029380	0	0
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:286583G>C	ENST00000432829.2	+	3	391	c.75G>C	c.(73-75)gtG>gtC	p.V25V	DOCK8_ENST00000469391.1_Silent_p.V25V|DOCK8_ENST00000453981.1_Silent_p.V93V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V93V(2)|p.V25V(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTGGACGTGGTGTTCACGC	0.493000													11	13					0	0	0.013537	0	0
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:20879649G>A	ENST00000332947.4	+	1	718	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61								p.Q61Q(2)		large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GCCGGCGCCAGAAAGTGGAGC	0.692000													7	15					0	0	0.029380	0	0
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	G	T	rs145685246		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:51363276G>T	ENST00000522124.1	+	8	1011	c.350G>T	c.(349-351)aGa>aTa	p.R117I	SNTG1_ENST00000517473.1_Missense_Mutation_p.R117I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R117I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R117I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R117I(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGAAAATGTAGACATGAAGAA	0.323000													4	8					0.00024832	0.000269422	0.009096	1	0
NOVA2	4858	broad.mit.edu	37	19	46443465	46443465	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46443465C>A	ENST00000263257.5	-	4	1329	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	379	Ala-rich.|Gly-rich.					nucleus	RNA binding	p.G379C(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		accagcgggccgccccctccg	0.796000													5	9					0.000602214	0.000645552	0.014758	1	0
LDB3	11155	broad.mit.edu	37	10	88476445	88476445	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:88476445T>A	ENST00000429277.2	+	10	1753	c.1608T>A	c.(1606-1608)ctT>ctA	p.L536L	LDB3_ENST00000458213.2_Silent_p.L421L|LDB3_ENST00000263066.6_Silent_p.L421L|LDB3_ENST00000361373.4_Silent_p.L531L|LDB3_ENST00000352360.5_Silent_p.L274L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	531						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGCCACCACTTGCCAGGGGGA	0.652000													10	48					0	0	0.006214	0	0
HK1	3098	broad.mit.edu	37	10	71048521	71048521	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71048521G>A	ENST00000448642.2	+	4	411	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	HK1_ENST00000360289.2_5'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.E8K			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E8K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCCAGCGAGAATCGGTAAG	0.512000													4	32					0	0	0.014758	0	0
OBSCN	84033	broad.mit.edu	37	1	228559464	228559464	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228559464C>G	ENST00000570156.2	+	105	23930	c.23856C>G	c.(23854-23856)atC>atG	p.I7952M	OBSCN_ENST00000422127.1_Missense_Mutation_p.I6995M|OBSCN_ENST00000366707.4_Missense_Mutation_p.I4629M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6995					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.I7707M(1)|p.I7577M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCCTATCAGGGACATGG	0.692000													26	25					0	0	0.034045	0	0
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135288688G>C	ENST00000543669.1	+	2	808	c.97G>C	c.(97-99)Gac>Cac	p.D33H	FHL1_ENST00000370676.3_Missense_Mutation_p.D49H|FHL1_ENST00000394153.2_Missense_Mutation_p.D33H|FHL1_ENST00000370690.3_Missense_Mutation_p.D33H|FHL1_ENST00000345434.3_Missense_Mutation_p.D33H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.D49H|FHL1_ENST00000394155.2_Missense_Mutation_p.D33H|FHL1_ENST00000535737.1_Missense_Mutation_p.D33H|FHL1_ENST00000539015.1_Missense_Mutation_p.D62H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	33					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.D33H(4)|p.D62H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GAAATGCTTTGACAAGTTCTG	0.557000													57	126					0	0	0.014410	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762245	23762245	+	Translation_Start_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:23762245C>A	ENST00000397312.2	-	0	262				ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAGCAATTACCTGCTAAAAAC	0.393000													17	29					4.14922e-12	5.35987e-12	0.028581	1	0
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3786361T>A	ENST00000381771.2	-	6	770	c.623A>T	c.(622-624)cAc>cTc	p.H208L	CAMKK1_ENST00000158166.5_Missense_Mutation_p.H208L|CAMKK1_ENST00000381769.2_Missense_Mutation_p.H235L|CAMKK1_ENST00000348335.2_Missense_Mutation_p.H208L			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	208	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.H208L(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CACATTCACGTGGTCCAGCTT	0.642000													25	31					0	0	0.021523	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:32217561G>A	ENST00000400246.1	+	23	2086	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q	DEPDC5_ENST00000382112.3_Silent_p.Q648Q|DEPDC5_ENST00000400248.1_Silent_p.Q648Q|DEPDC5_ENST00000400249.2_Silent_p.Q648Q|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Silent_p.Q648Q|DEPDC5_ENST00000266091.3_Silent_p.Q648Q|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	648					intracellular signal transduction			p.Q648Q(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAGCGGGCAGAGGGATCCAA	0.552000													53	110					0	0	0.014410	0	0
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:48543473G>T	ENST00000317697.3	-	4	712	c.543C>A	c.(541-543)aaC>aaA	p.N181K	ASB8_ENST00000536549.1_Missense_Mutation_p.N181K|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	181					intracellular signal transduction	cytoplasm|nucleus		p.N181K(2)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGCCTATTAGGTTGATGACTC	0.522000													16	51					8.60227e-14	1.1369e-13	0.028581	1	0
SKIV2L	6499	broad.mit.edu	37	6	31927146	31927146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31927146T>A	ENST00000375394.2	+	2	208	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	32						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L32Q(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGGGAGCTGCTGAACTTG	0.587000													161	159					0	0	0.014410	0	0
PATZ1	23598	broad.mit.edu	37	22	31722972	31722972	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31722972C>G	ENST00000266269.5	-	5	2598	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.E611Q|PATZ1_ENST00000405309.3_3'UTR	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	657					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E657Q(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAAAGGACTCGAGGAGAGAC	0.582000													9	87					0	0	0.006214	0	0
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152083697C>G	ENST00000368804.1	-	2	1995	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E666Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGAGCCTCTCTTCCTCCTCC	0.652000													57	96					0	0	0.014410	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303476	5303476	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:5303476C>T	ENST00000274181.7	+	19	3023	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	962	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S962L(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTATGACTCGGAGCCAGTC	0.711000													4	5					0	0	0.014758	0	0
RAD54L2	23132	broad.mit.edu	37	3	51663464	51663464	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51663464T>C	ENST00000409535.1	+	4	581	c.456T>C	c.(454-456)ccT>ccC	p.P152P	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	152						nucleus	ATP binding|DNA binding|helicase activity	p.P152P(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCTATTCCTACTGTTCCGC	0.527000													3	14					0	0	0.004672	0	0
TRIM37	4591	broad.mit.edu	37	17	57126552	57126552	+	Missense_Mutation	SNP	T	T	C	rs77807605		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57126552T>C	ENST00000376149.3	-	15	1960	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	TRIM37_ENST00000262294.7_Missense_Mutation_p.N506S|TRIM37_ENST00000393065.2_Missense_Mutation_p.N472S|TRIM37_ENST00000393066.3_Missense_Mutation_p.N506S			O94972	TRI37_HUMAN	tripartite motif containing 37	506	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.N506S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATAATCTTCATTCTGAATCTT	0.363000									Mulibrey Nanism				7	30					0	0	0.003080	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598331	58598331	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58598331C>A	ENST00000240727.6	-	5	1086	c.687G>T	c.(685-687)tgG>tgT	p.W229C	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.W285C|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.W229C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.W94C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	229					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W285C(1)|p.W229C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGTGGCCCCACTCCCCCA	0.637000													15	55					1.5739e-10	1.98998e-10	0.028581	1	0
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:11133706A>G	ENST00000409790.1	+	14	1863	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R527G	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	545								p.R545G(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACTCATCAGGATCATGAA	0.577000													4	8					0	0	0.014758	0	0
LVRN	206338	broad.mit.edu	37	5	115298888	115298888	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:115298888C>A	ENST00000357872.4	+	1	698	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		192					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.L192I(2)									GGTGCTGGAGCTCAGTGAGCC	0.632000													7	23					0.0293803	0.0299671	0.029380	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54708348	54708348	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:54708348C>T	ENST00000355221.3	-	8	1234	c.675G>A	c.(673-675)atG>atA	p.M225I	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.M203I|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.M243I	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.M225I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGAAAAAATCATTTGATACT	0.378000													5	34					0	0	0.021553	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250893	79250893	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79250893C>T	ENST00000374759.3	-	7	1050	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.V223M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	223					amino acid transport|sodium ion transport	integral to membrane		p.V223M(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATGGTTTTCACTGACGGCTCA	0.572000													9	44					0	0	0.008291	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855043	79855043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79855043C>T	ENST00000338682.3	-	5	1468	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	266						cytoplasm|nucleus		p.E266K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGAGCTCCTCTTGCAATGAA	0.517000													7	49					0	0	0.029380	0	0
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27420806G>A	ENST00000211936.6	-	6	816	c.532C>T	c.(532-534)Cct>Tct	p.P178S	ZNF184_ENST00000377419.1_Missense_Mutation_p.P178S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P178S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTATTTACAGGGCCTTTTTCC	0.403000													55	64					0	0	0.014410	0	0
ATP4A	495	broad.mit.edu	37	19	36053418	36053418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36053418G>T	ENST00000262623.3	-	4	367	c.339C>A	c.(337-339)tgC>tgA	p.C113*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	113					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C113*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACATGAGGCACTGCAGGC	0.662000													5	22					0.014758	0.0151827	0.014758	1	0
MED12L	116931	broad.mit.edu	37	3	150906262	150906262	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150906262C>T	ENST00000474524.1	+	12	1786	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	MED12L_ENST00000309237.4_Missense_Mutation_p.S583F|MED12L_ENST00000422248.2_Missense_Mutation_p.S583F|MED12L_ENST00000273432.4_Missense_Mutation_p.S443F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	583					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S583F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCCCCTCTTTGTGTAAG	0.333000													13	87					0	0	0.028581	0	0
IRX2	153572	broad.mit.edu	37	5	2748737	2748737	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:2748737G>C	ENST00000382611.6	-	3	1333	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	IRX2_ENST00000302057.5_Nonsense_Mutation_p.S362*	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	362						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCCCCGGTTGAggccggcgc	0.736000													3	11					0	0	0.014758	0	0
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:89035252C>G	ENST00000283646.4	+	6	649	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.F198L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCGCTGATTTCAGGTACAGTT	0.517000													52	105					0	0	0.014410	0	0
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27720714C>T	ENST00000374024.3	+	2	511	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		p.L138L(2)		endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTACCTTTCTCTGTACAATGC	0.592000													60	74					0	0	0.014410	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981575	61981575	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61981575G>C	ENST00000370263.4	-	5	1409	c.1188C>G	c.(1186-1188)agC>agG	p.S396R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	396					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTGGGTGCCGCTCGTGGCAG	0.672000													6	20					0	0	0.003080	0	0
SLC7A6	9057	broad.mit.edu	37	16	68309111	68309111	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68309111C>A	ENST00000566454.1	+	4	751	c.482C>A	c.(481-483)cCc>cAc	p.P161H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P161H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	161					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	p.P161H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCTGTGATCCCCCATACCTG	0.572000													17	88					7.07596e-05	7.78955e-05	0.006122	1	0
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:994187C>T	ENST00000537687.1	+	19	5640	c.4997C>T	c.(4996-4998)tCa>tTa	p.S1666L	WNK1_ENST00000340908.4_Missense_Mutation_p.S999L|WNK1_ENST00000315939.6_Missense_Mutation_p.S1406L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1904L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1159L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S1406L(2)|p.S1666L(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCTGAATCACCAGTACTT	0.498000													19	53					0	0	0.007413	0	0
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493000													20	33					0	0	0.010504	0	0
GOLT1A	127845	broad.mit.edu	37	1	204183019	204183019	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:204183019C>G	ENST00000308302.3	-	1	201	c.16G>C	c.(16-18)Gaa>Caa	p.E6Q		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	6					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.E6Q(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CTCTGCCATTCGGTGATGGAG	0.642000													6	24					0	0	0.021553	0	0
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:31324729G>T	ENST00000580599.1	+	6	783		c.e6-1		SPACA3_ENST00000394638.1_Splice_Site|SPACA3_ENST00000394637.2_Splice_Site|SPACA3_ENST00000269053.3_Splice_Site			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCCATCCTCAGGGAGGCCTGG	0.532000													27	44					1.66031e-10	2.08816e-10	0.021523	1	0
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275103G>T	ENST00000360374.2	-	1	475	c.476C>A	c.(475-477)gCa>gAa	p.A159E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGGTGCCTGCTGCATGGAT	0.507000													12	31					2.27111e-07	2.68182e-07	0.013537	1	0
CPSF2	53981	broad.mit.edu	37	14	92609541	92609541	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:92609541A>T	ENST00000298875.4	+	9	1328	c.1043A>T	c.(1042-1044)gAc>gTc	p.D348V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	348					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.D348V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTGTCAGGACCCTAAAAAC	0.423000													5	20					0	0	0.014758	0	0
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176838157G>T	ENST00000367654.2	-	22	3507	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1157E|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1157E			O14525	ASTN1_HUMAN	astrotactin 1	1165					cell migration|neuron cell-cell adhesion	integral to membrane		p.A1157E(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATCTTGTCTGCTATTTCTGA	0.383000													18	10					1.02788e-11	1.32183e-11	0.033300	1	0
SOGA3	387104	broad.mit.edu	37	6	127796797	127796797	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:127796797G>A	ENST00000556132.1	-	6	3238	c.2374C>T	c.(2374-2376)Ctc>Ttc	p.L792F	SOGA3_ENST00000481848.2_Missense_Mutation_p.L792F|SOGA3_ENST00000525778.1_Missense_Mutation_p.L792F|SOGA3_ENST00000465909.2_Missense_Mutation_p.L792F|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.L792F	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	792						integral to membrane		p.L792F(1)									GTGGGCGTGAGGCAGCGGATG	0.697000													42	33					0	0	0.030466	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													36	157					0	0	0.013726	0	0
DAK	26007	broad.mit.edu	37	11	61106638	61106638	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61106638G>A	ENST00000394900.3	+	4	523	c.294G>A	c.(292-294)caG>caA	p.Q98Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	98	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.Q98Q(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCGTGGCCCAGGCCGGCACAG	0.672000													33	50					0	0	0.012213	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340715	104340715	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:104340715C>G	ENST00000299767.5	+	16	2440	c.2258C>G	c.(2257-2259)gCa>gGa	p.A753G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	753					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GACCCTGATGCAAAGGTTTGT	0.453000													5	23					0	0	0.021553	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:121417151T>C	ENST00000393667.3	-	13	2329	c.2219A>G	c.(2218-2220)aAc>aGc	p.N740S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N735S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	735					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.N735S(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCACTGCTGTTGTTGTCAGC	0.388000													12	34					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179641721C>A	ENST00000589042.1	-	28	5094	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D1578Y|TTN_ENST00000460472.2_Missense_Mutation_p.D1578Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1624Y|TTN_ENST00000342175.6_Missense_Mutation_p.D1578Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1624Y|TTN_ENST00000591111.1_Missense_Mutation_p.D1624Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1358	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D1578Y(6)|p.D1624Y(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCAGAATCTTGGCTGACA	0.423000													26	36					9.57634e-11	1.2151e-10	0.018920	1	0
EPHA3	2042	broad.mit.edu	37	3	89528582	89528582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:89528582C>G	ENST00000336596.2	+	17	3107	c.2882C>G	c.(2881-2883)cCa>cGa	p.P961R	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	961	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.P961R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGTTGGGCCACAGAAGAAG	0.428000										TSP Lung(6;0.00050)			3	22					0	0	0.004672	0	0
ESRRB	2103	broad.mit.edu	37	14	76966335	76966335	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76966335C>A	ENST00000380887.2	+	8	1498	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.R476S|ESRRB_ENST00000261532.7_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R476S(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCAATCCACGCCCTTCTAG	0.537000													9	4					0.00448238	0.00469239	0.004482	1	0
MT-CO3	4514	broad.mit.edu	37	MT	9247	9247	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrM:9247G>A	ENST00000362079.2	+	1	41	c.41G>A	c.(40-42)aGc>aAc	p.14_14insN						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AGTAAAACCCAGCCCATGACC	0.498000													5	10					0	0	0.014758	0	0
TTYH2	94015	broad.mit.edu	37	17	72233616	72233616	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72233616A>T	ENST00000269346.4	+	4	672	c.598A>T	c.(598-600)Aag>Tag	p.K200*	TTYH2_ENST00000529107.1_Nonsense_Mutation_p.K179*	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	200						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.K200*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGCTGACCAAGCTATCCGA	0.572000													11	55					0	0	0.010729	0	0
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45822468C>A	ENST00000177694.1	+	6	1555	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	448					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCTGGTTCCGCCCTATGC	0.677000													16	32					1.15088e-07	1.37146e-07	0.028581	1	0
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:153796519T>G	ENST00000297107.6	+	12	1936	c.1799T>G	c.(1798-1800)tTc>tGc	p.F600C	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F538C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F273C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	600						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F600C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTGGAAAAATTCAATAGGAAC	0.542000													19	56					0	0	0.007413	0	0
TBC1D31	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:124113096A>C	ENST00000287380.1	+	7	971	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q189P|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q294P|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q294P|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q189P	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.Q294P(2)									ATCAATATGCAGACTTGTAAA	0.353000													8	25					0	0	0.003080	0	0
RNF213	57674	broad.mit.edu	37	17	78357570	78357570	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78357570C>T	ENST00000582970.1	+	59	14307	c.14164C>T	c.(14164-14166)Cca>Tca	p.P4722S	RNF213_ENST00000508628.2_Missense_Mutation_p.P4771S|RNF213_ENST00000336301.6_Missense_Mutation_p.P2795S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.P4771S(1)|p.P2795S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATATGGTGACCCAGTGACCTT	0.468000													3	48					0	0	0.004672	0	0
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46094344C>A	ENST00000323040.4	-	2	1725	c.781G>T	c.(781-783)Gag>Tag	p.E261*	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637000													29	49					9.39395e-14	1.24038e-13	0.030593	1	0
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65849892C>T	ENST00000395325.3	+	6	669	c.512C>T	c.(511-513)tCa>tTa	p.S171L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.S228L|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S158L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.S171L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGGGCGGCATCATCAATTCTG	0.403000													14	51					0	0	0.016723	0	0
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:136872465C>G	ENST00000409817.1	-	1	1348	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CXCR4_ENST00000241393.3_Missense_Mutation_p.E345Q|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	345					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.E349Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTGAAGACTCAGACTCAGTG	0.403000													99	268					0	0	0.014410	0	0
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:108576016C>A	ENST00000265174.4	-	8	1208	c.936G>T	c.(934-936)gcG>gcT	p.A312A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.A312A(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTTCATGAGTCGCAGTCAGAA	0.458000													29	35					4.59853e-10	5.72315e-10	0.027356	1	0
BLOC1S2	282991	broad.mit.edu	37	10	102039910	102039910	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102039910T>C	ENST00000441611.1	-	3	456	c.239A>G	c.(238-240)tAc>tGc	p.Y80C	BLOC1S2_ENST00000370372.2_Missense_Mutation_p.Y123C			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	p.Y123C(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		ATCCAACTTGTAAGCTGCCTG	0.368000													7	43					0	0	0.003080	0	0
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:47684541G>T	ENST00000283303.2	+	7	2190		c.e7-1		GPR115_ENST00000327753.3_Splice_Site|GPR115_ENST00000371220.1_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTTGCCACAGGGTTTTTTCA	0.393000													19	21					1.00905e-13	1.3299e-13	0.008871	1	0
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113323366G>C	ENST00000297405.5	-	50	7970	c.7726C>G	c.(7726-7728)Cct>Gct	p.P2576A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2536A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2506A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2472A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2576	Sushi 14.					integral to membrane|plasma membrane		p.P2536A(2)|p.P2576A(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATGAGGTGGGGATTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	31					0	0	0.010729	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31850252C>T	ENST00000397525.1	-	10	1613	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E143K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E301K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E464K|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	464						nucleus	protein binding|protein transporter activity	p.E464K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGTCTCTTCTAGGTGT	0.483000													13	63					0	0	0.013537	0	0
ABCC4	10257	broad.mit.edu	37	13	95862948	95862948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:95862948G>A	ENST00000376887.4	-	5	733	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q132*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q207*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q207*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	207	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Q207*(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGCTTACCTGATCAAACTTG	0.458000													6	48					0	0	0.021553	0	0
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:21860668C>G	ENST00000399982.2	-	33	6833	c.6769G>C	c.(6769-6771)Gat>Cat	p.D2257H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1978H|CHD8_ENST00000557364.1_Missense_Mutation_p.D2257H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.D2257H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCTTACATCTTTGATTTGA	0.463000													20	104					0	0	0.010504	0	0
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15760843C>T	ENST00000378076.3	-	2	618	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	89					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E89K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCCCCCTTCCACGATATCG	0.567000													21	97					0	0	0.014323	0	0
NOX4	50507	broad.mit.edu	37	11	89184980	89184980	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:89184980G>A	ENST00000535633.1	-	3	475	c.165C>T	c.(163-165)ctC>ctT	p.L55L	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Silent_p.L55L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.L55L|NOX4_ENST00000263317.4_Silent_p.L79L|NOX4_ENST00000532825.1_Silent_p.L55L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Silent_p.L55L|NOX4_ENST00000413594.2_Silent_p.L100L|NOX4_ENST00000542487.1_Silent_p.L55L|NOX4_ENST00000525196.1_Silent_p.L79L|NOX4_ENST00000528341.1_Silent_p.L54L|NOX4_ENST00000534731.1_Silent_p.L79L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	79					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAGCCAAGAGTGTTCGGC	0.413000													6	37					0	0	0.029380	0	0
GNAT1	2779	broad.mit.edu	37	3	50230588	50230588	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:50230588C>T	ENST00000232461.3	+	2	243	c.129C>T	c.(127-129)agC>agT	p.S43S	GNAT1_ENST00000433068.1_Silent_p.S43S	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	43					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCGGGAAGAGCACCATCGTCA	0.662000											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	54					0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:98509822G>A	ENST00000359863.4	+	18	2394	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E728K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E729K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E729K(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAAAATGAACAAATGCT	0.483000													21	36					0	0	0.012319	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670723	55670723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55670723C>A	ENST00000527223.2	-	12	1535	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	DNAAF3_ENST00000455045.1_Missense_Mutation_p.A391S|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A445S|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G106V|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A492S	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	445								p.A492S(1)									GAAGGCCTGGCCCCGGTCTGT	0.617000													10	81					4.68919e-08	5.66825e-08	0.008291	1	0
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	C	A	rs147705128	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:28993526C>A	ENST00000359747.4	+	15	3177	c.3148C>A	c.(3148-3150)Cga>Aga	p.R1050R	DSG4_ENST00000308128.4_Silent_p.R1031R|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1031					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R1050R(2)|p.R1031R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGTAACACGATACAGTAA	0.438000													20	25					5.26018e-13	6.86319e-13	0.012319	1	0
LENG8	114823	broad.mit.edu	37	19	54967885	54967885	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:54967885G>A	ENST00000326764.5	+	11	1995	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	469							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCGGAGCGAGAGCTGAAGAA	0.667000													4	21					0	0	0.014758	0	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000													27	69					0	0	0.024334	0	0
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100957082C>T	ENST00000548884.1	+	11	1775	c.1234C>T	c.(1234-1236)Ctt>Ttt	p.L412F	NR1H4_ENST00000549996.1_Missense_Mutation_p.L365F|NR1H4_ENST00000551379.1_Missense_Mutation_p.L426F|NR1H4_ENST00000188403.7_Missense_Mutation_p.L422F|NR1H4_ENST00000392986.3_Missense_Mutation_p.L416F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L412F(2)|p.L426F(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GGAGCCACTTCTTGATGTGCT	0.383000													18	21					0	0	0.006122	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14710889C>G	ENST00000547437.1	+	12	866	c.789C>G	c.(787-789)ggC>ggG	p.G263G	CLEC17A_ENST00000397439.2_Silent_p.G246G|CLEC17A_ENST00000417570.1_Silent_p.G263G	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	p.G263G(2)									CCTTTGAGGGCAAGTGTTACT	0.532000													14	34					0	0	0.028581	0	0
CD300A	11314	broad.mit.edu	37	17	72469792	72469792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72469792C>T	ENST00000360141.3	+	2	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	53	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.P53L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCAGACCACCACAGATTTTC	0.547000													17	91					0	0	0.033300	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42478467C>T	ENST00000434000.1	-	9	1026	c.744G>A	c.(742-744)ggG>ggA	p.G248G	GPATCH8_ENST00000591680.1_Silent_p.G326G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326						intracellular	nucleic acid binding|zinc ion binding	p.G326G(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCAGAGGTCCCTTCCTCCG	0.448000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	137					0	0	0.015359	0	0
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60889133G>A	ENST00000347785.3	+	6	1022	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	286	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.E286K(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCATCTGTGAAGGCACCGT	0.647000													33	57					0	0	0.013726	0	0
SUOX	6821	broad.mit.edu	37	12	56397693	56397693	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56397693G>A	ENST00000394109.3	+	3	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	SUOX_ENST00000356124.4_Missense_Mutation_p.D174N|SUOX_ENST00000266971.3_Missense_Mutation_p.D174N|SUOX_ENST00000548274.1_Missense_Mutation_p.D174N|SUOX_ENST00000394115.2_Missense_Mutation_p.D174N|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000550478.1_3'UTR			P51687	SUOX_HUMAN	sulfite oxidase	174	Hinge (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGAGACCTCTGACCCTTATGC	0.547000													8	55					0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:137688241C>T	ENST00000371817.3	+	35	3235	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P941S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGACGGCCCAGCTGGCCC	0.577000													32	49					0	0	0.010818	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:24911677T>A	ENST00000313367.2	-	3	559	c.108A>T	c.(106-108)gaA>gaT	p.E36D	OSBPL3_ENST00000352860.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E36D|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E36D	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	36					lipid transport		lipid binding|protein binding	p.E36D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCACCACTTCCCAGCTGT	0.413000													19	29					0	0	0.007413	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683366	140683366	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140683366A>T	ENST00000239451.4	-	1	246	c.67T>A	c.(67-69)Tgt>Agt	p.C23S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGTACACACGCTGTCCCC	0.597000													9	47					0	0	0.008291	0	0
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:15495391C>T	ENST00000383788.5	-	16	1368	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Missense_Mutation_p.E381K|COLQ_ENST00000435459.2_Missense_Mutation_p.E405K|COLQ_ENST00000383787.2_Missense_Mutation_p.E406K|COLQ_ENST00000383781.4_Missense_Mutation_p.E405K|COLQ_ENST00000603808.1_Missense_Mutation_p.E416K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	415					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.E405K(2)|p.E415K(2)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCACAGTCCTCCACACCCTCA	0.587000													6	17					0	0	0.029380	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273625	99273625	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:99273625A>T	ENST00000408927.3	+	4	348		c.e4-1		RAP1GDS1_ENST00000380158.4_Splice_Site|RAP1GDS1_ENST00000408900.3_Splice_Site|RAP1GDS1_ENST00000512857.1_Splice_Site|RAP1GDS1_ENST00000339360.5_Splice_Site|RAP1GDS1_ENST00000453712.2_Splice_Site|RAP1GDS1_ENST00000264572.7_Splice_Site	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1								binding|GTPase activator activity	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTATTTTCAGAGTTTATGC	0.358000			T	NUP98	T-ALL								10	11					0	0	0.008291	0	0
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150437062A>G	ENST00000401000.4	+	9	1458	c.1393A>G	c.(1393-1395)Agt>Ggt	p.S465G	RPRD2_ENST00000539519.1_Missense_Mutation_p.S465G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S491G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	491	Ser-rich.						protein binding	p.S491G(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCTCACCAGTGGCCTGAA	0.527000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0	0	0.003080	0	0
CCDC78	124093	broad.mit.edu	37	16	773113	773113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:773113G>T	ENST00000293889.6	-	12	1287	c.1182C>A	c.(1180-1182)gaC>gaA	p.D394E		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	394										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGCGGGAGAAGTCCCGGAGCT	0.642000													8	37					1.12685e-05	1.27383e-05	0.004482	1	0
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:39161449G>T	ENST00000301819.6	+	8	1039	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E239*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E288*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	288							binding	p.E288*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAGGCACTAGAGACAAGGGA	0.448000													13	45					4.93089e-13	6.43943e-13	0.020292	1	0
ATG2B	55102	broad.mit.edu	37	14	96809570	96809570	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96809570C>A	ENST00000359933.4	-	5	1523	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	210								p.V210V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGTTGATGCACATTAATTC	0.433000													6	31					0.00307968	0.00323819	0.003080	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33527444G>A	ENST00000504830.1	-	24	4969	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1460L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1545	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1545L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACTGGCTGACAGTTTGTC	0.438000										HNSCC(64;0.19)			11	40					0	0	0.010729	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:57218183A>C	ENST00000396721.2	-	5	807	c.677T>G	c.(676-678)tTg>tGg	p.L226W	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L270W|SDR16C5_ENST00000303749.3_Missense_Mutation_p.L270W			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	270					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L270W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAAGTATAACAACTTTGGCAT	0.358000													10	16					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:103487276G>C	ENST00000358392.2	-	9	1648	c.1331C>G	c.(1330-1332)gCa>gGa	p.A444G	COL11A1_ENST00000353414.4_Missense_Mutation_p.A393G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A316G|COL11A1_ENST00000370096.3_Missense_Mutation_p.A432G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A432G(2)|p.A444G(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCAACCACTGCTGGTTCTCC	0.358000													10	26					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:160510217G>T	ENST00000356956.1	+	43	6547	c.6399G>T	c.(6397-6399)caG>caT	p.Q2133H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2133					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.Q2133H(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGAGGTGCAGATGGTGAATG	0.502000													19	26					3.32936e-07	3.91851e-07	0.006122	1	0
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:118579310G>A	ENST00000263239.2	+	5	863	c.735G>A	c.(733-735)agG>agA	p.R245R	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R245R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAGTTAAGGTTCATGCCCA	0.423000													9	32					0	0	0.004482	0	0
FPR2	2358	broad.mit.edu	37	19	52272902	52272902	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272902C>A	ENST00000598776.1	+	2	1763	c.991C>A	c.(991-993)Cca>Aca	p.P331T	FPR2_ENST00000340023.6_Missense_Mutation_p.P331T|FPR2_ENST00000598953.1_Missense_Mutation_p.P331T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACTCAGCCCCAACTAATGA	0.537000													6	38					0.00198382	0.00209054	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179396241C>T	ENST00000589042.1	-	358	105325	c.105101G>A	c.(105100-105102)gGg>gAg	p.G35034E	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26094E|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25969E|TTN_ENST00000342992.6_Missense_Mutation_p.G32466E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26161E|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33393E|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33393							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26094E(2)|p.G32464E(2)|p.G32466E(2)|p.G25969E(2)|p.G26161E(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAATCCCCTCCTGTCAC	0.493000													35	40					0	0	0.013726	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:160259585C>T	ENST00000264431.4	+	12	2194	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.S580L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTATTGCAGTCACATCATCGC	0.383000													11	38					0	0	0.010729	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:11082809G>T	ENST00000304623.8	-	16	2976	c.2788_splice	c.e16+1	p.I929_splice	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.I496_splice|CTNND2_ENST00000503622.1_Splice_Site_p.I592_splice|CTNND2_ENST00000511377.1_Splice_Site_p.I838_splice|CTNND2_ENST00000359640.2_Splice_Site_p.I871_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000													14	52					1.5842e-08	1.9379e-08	0.016723	1	0
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11297963C>A	ENST00000361445.4	-	13	2221	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	715					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.V715V(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGAGTCGGCCCACAGTGCAGA	0.577000													23	31					1.28384e-07	1.52863e-07	0.012319	1	0
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:42530068G>C	ENST00000282030.5	+	4	1059	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	255						nucleus	DNA binding	p.E255Q(2)|p.E201Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCGCTCTTGAGCCCGTGGC	0.537000									Schinzel-Giedion syndrome				27	84					0	0	0.021523	0	0
ADAM29	11086	broad.mit.edu	37	4	175898412	175898412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:175898412T>G	ENST00000359240.3	+	5	2406	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	ADAM29_ENST00000514159.1_Missense_Mutation_p.I579R|ADAM29_ENST00000445694.1_Missense_Mutation_p.I579R|ADAM29_ENST00000404450.4_Missense_Mutation_p.I579R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	579	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I579R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCAATGACATAATGTGCTGG	0.423000													10	79					0	0	0.013537	0	0
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:60688050G>C	ENST00000335712.6	-	4	2224	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	BCL11A_ENST00000358510.4_Missense_Mutation_p.S632C|BCL11A_ENST00000537768.1_Missense_Mutation_p.S335C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.S632C|BCL11A_ENST00000356842.4_Missense_Mutation_p.S666C	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	666					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S666C(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGCCTGGAGGCCGCGTA	0.612000			T	IGH@	B-CLL								19	33					0	0	0.006122	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593530	45593530	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:45593530C>T	ENST00000270257.4	+	3	405	c.158C>T	c.(157-159)tCc>tTc	p.S53F	CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.S53F|GEMIN7_ENST00000591607.1_Missense_Mutation_p.S53F|GEMIN7_ENST00000391951.2_Missense_Mutation_p.S53F	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	53					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	p.S53F(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TCCCTGGAATCCCAGGAGCAG	0.627000													12	63					0	0	0.010729	0	0
CTNND1	1500	broad.mit.edu	37	11	57572182	57572182	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57572182G>A	ENST00000524630.1	+	9	2165	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	CTNND1_ENST00000531014.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.C551Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.C497Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	551					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.C551Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGGGAATGTGATGGTTTA	0.463000													5	22					0	0	0.021553	0	0
KMT2A	4297	broad.mit.edu	37	11	118362018	118362018	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:118362018C>A	ENST00000534358.1	+	14	4827	c.4804C>A	c.(4804-4806)Ctt>Att	p.L1602I	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1564I|KMT2A_ENST00000389506.5_Missense_Mutation_p.L1602I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.L1602I(2)									ATGTGAGAATCTTTCAGGTAC	0.373000													7	40					0.0293803	0.0299671	0.029380	1	0
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142460350T>C	ENST00000486171.1	+	5	582	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Y175H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	175	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Y175H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGAAGCCTCCTACCCTGGAAA	0.532000													65	148					0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:129903116T>A	ENST00000368654.3	-	13	7363	c.6988A>T	c.(6988-6990)Aag>Tag	p.K2330*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1970*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K2330*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGTGGGCTTGTCAGTGCCT	0.522000													113	283					0	0	0.014410	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52147285C>A	ENST00000360844.6	-	5	800	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	253	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.L246L(2)|p.L253L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGGATCCGCAGGGCTGGGA	0.592000													7	11					0.00198382	0.00209054	0.029380	1	0
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22369243C>A	ENST00000332663.2	+	1	766	c.668C>A	c.(667-669)gCc>gAc	p.A223D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTTCTGGCCTTGTTCAAG	0.478000													20	89					8.00594e-06	9.10779e-06	0.007413	1	0
DDI1	414301	broad.mit.edu	37	11	103908684	103908684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103908684G>T	ENST00000302259.3	+	1	1377	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	378					proteolysis		aspartic-type endopeptidase activity	p.E378D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCAAGATGAGTCTTCGGACA	0.458000													3	29					0.004672	0.00485888	0.004672	1	0
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:187088747T>C	ENST00000259030.2	+	2	437	c.327T>C	c.(325-327)gaT>gaC	p.D109D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	109					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.D109D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCTCGGATAGCACCATGA	0.507000													7	28					0	0	0.029380	0	0
RYR1	6261	broad.mit.edu	37	19	38934893	38934893	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38934893C>G	ENST00000355481.4	+	6	660	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	RYR1_ENST00000360985.3_Missense_Mutation_p.R177G|RYR1_ENST00000359596.3_Missense_Mutation_p.R177G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	177	MIR 2.		R -> C (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R177G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTCCGAGCGCTACCTGGT	0.602000													4	34					0	0	0.009096	0	0
SDK2	54549	broad.mit.edu	37	17	71427710	71427710	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71427710C>A	ENST00000392650.3	-	11	1411	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	SDK2_ENST00000388726.3_Missense_Mutation_p.G471W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	471	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGTAGGTCCCCGCATCGGAG	0.627000													57	179					1.67886e-27	2.377e-27	0.014410	1	0
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:9784051T>A	ENST00000304374.2	+	1	794	c.398T>A	c.(397-399)gTc>gAc	p.V133D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V133D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACCTGTGCGTCATCAGCGTG	0.627000													10	25					0	0	0.006214	0	0
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149749093G>A	ENST00000451292.1	+	6	675	c.565_splice	c.e6-1	p.G189_splice	TCOF1_ENST00000394269.3_Splice_Site_p.G189_splice|TCOF1_ENST00000504761.2_Splice_Site_p.G189_splice|TCOF1_ENST00000513346.1_Splice_Site_p.G189_splice|TCOF1_ENST00000439160.2_Splice_Site_p.G189_splice|TCOF1_ENST00000323668.7_Splice_Site_p.G189_splice|TCOF1_ENST00000445265.2_Splice_Site_p.G189_splice|TCOF1_ENST00000377797.3_Splice_Site_p.G189_splice			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development	nucleolus	protein binding|transporter activity	p.G189G(4)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCTCAGGGATGGTGTCAG	0.627000													16	42					0	0	0.007413	0	0
ACTR8	93973	broad.mit.edu	37	3	53908248	53908248	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:53908248T>C	ENST00000335754.3	-	8	1155	c.1055A>G	c.(1054-1056)cAt>cGt	p.H352R	ACTR8_ENST00000482349.1_Missense_Mutation_p.H241R|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.H352R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGATCTAAATGACAAAAAGT	0.343000													5	24					0	0	0.014758	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:121638051G>T	ENST00000393386.2	+	10	1642	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	411					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D411Y(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATGCCTACTGATAATCCTGG	0.348000													5	9					0.000602214	0.000645552	0.014758	1	0
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62655685G>C	ENST00000377892.1	+	12	1842	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	SLC3A2_ENST00000377891.2_Missense_Mutation_p.V510L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.V408L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V478L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V509L|SLC3A2_ENST00000536981.1_Missense_Mutation_p.V54L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V447L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	509					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.V540L(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAACATGACTGTGAAGGTAAG	0.537000													34	56					0	0	0.010818	0	0
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:110048969C>G	ENST00000309415.6	+	6	1416	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3.						zinc ion binding	p.L472L(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACCTGGCGCTCTACGCCTACA	0.632000													10	14					0	0	0.010729	0	0
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104114738C>T	ENST00000361355.4	+	4	791	c.175C>T	c.(175-177)Cca>Tca	p.P59S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	59					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.P59S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAGGTCTCTCCACCAAATGA	0.318000													9	37					0	0	0.006214	0	0
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248343411A>T	ENST00000359682.2	+	1	124	c.124A>T	c.(124-126)Aac>Tac	p.N42Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATGGGAAACTCTGTCAT	0.522000													111	113					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56382250G>A	ENST00000301295.6	+	7	2834	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	NLRP4_ENST00000346986.5_Silent_p.L748L|NLRP4_ENST00000587891.1_Silent_p.L729L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804							ATP binding	p.L804L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATGCTTCTGCGTAACAAGA	0.527000													16	49					0	0	0.028581	0	0
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	C	A	rs148078245	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:86902971C>A	ENST00000376238.4	-	12	1321	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M355I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	424					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.M424I(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCCACTTTCCATTTTCATGG	0.458000													29	39					1.06801e-11	1.3722e-11	0.009535	1	0
CAPN9	10753	broad.mit.edu	37	1	230910379	230910379	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:230910379T>A	ENST00000271971.2	+	8	1066		c.e8+2		CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000354537.1_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAATTCTGGTACCGTGCTTG	0.507000													6	35					0	0	0.021553	0	0
KLHL4	56062	broad.mit.edu	37	X	86921526	86921526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:86921526C>A	ENST00000373119.4	+	11	2294	c.2149C>A	c.(2149-2151)Cta>Ata	p.L717I	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	717						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.L717I(2)		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						AGTGGTGAAGCTACCCTAAAG	0.358000													5	13					0.0215528	0.0220935	0.021553	1	0
DSCAML1	57453	broad.mit.edu	37	11	117395754	117395754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:117395754G>T	ENST00000321322.6	-	5	884	c.883C>A	c.(883-885)Cag>Aag	p.Q295K	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	235	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACACTTCCTGGGAGTGGAAG	0.697000													4	14					0.00909568	0.00941159	0.009096	1	0
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18				G -> E (in Ref. 1; AAD51135).	DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711000								Other BER factors					9	40					0	0	0.010504	0	0
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:95756262C>A	ENST00000272418.2	-	11	1145	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.G313C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCGGAGGCCGTAACCTAGA	0.572000													28	88					7.07758e-08	8.51214e-08	0.024334	1	0
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Translation_Start_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:70806253G>A	ENST00000380675.2	+	0	3597				BDP1_ENST00000358731.4_Missense_Mutation_p.G1112S			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.G1112S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGCCTCTAGGTGAAATGCA	0.433000													8	28					0	0	0.004482	0	0
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43621828C>G	ENST00000398457.2	+	2	303	c.43C>G	c.(43-45)Cct>Gct	p.P15A	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.P15A(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	aaagccctgccctcaGGTGTG	0.552000													9	10					0	0	0.004482	0	0
PSG2	5670	broad.mit.edu	37	19	43576092	43576092	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43576092G>T	ENST00000406487.1	-	4	822	c.724C>A	c.(724-726)Ccc>Acc	p.P242T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGAATTCTGGGGAGGTCTGGA	0.498000													26	87					7.07758e-08	8.51214e-08	0.024334	1	0
CRNKL1	51340	broad.mit.edu	37	20	20025969	20025969	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:20025969C>G	ENST00000377340.2	-	7	1298	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E262Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E411Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	423					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E423Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATTTTCTTCAAACTTGGCA	0.363000													14	80					0	0	0.016723	0	0
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26094815G>T	ENST00000313735.6	-	18	2316	c.2083C>A	c.(2083-2085)Ccc>Acc	p.P695T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.P695T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TAGAGCTTGGGGATCTGAATG	0.567000													9	32					2.74318e-10	3.43799e-10	0.006214	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:106084040G>A	ENST00000357242.5	+	10	1819	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D543N|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D549N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D549N(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCAGAGTGATACTGGCAT	0.473000													21	32					0	0	0.010504	0	0
SALL3	27164	broad.mit.edu	37	18	76754521	76754521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:76754521G>T	ENST00000536229.3	+	1	2840	c.2131G>T	c.(2131-2133)Gag>Tag	p.E711*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.E844*|SALL3_ENST00000537592.2_Nonsense_Mutation_p.E844*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCCGCCCTGGAGAACCAGAT	0.667000													9	35					1.12685e-05	1.27383e-05	0.004482	1	0
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403000													70	64					0	0	0.014410	0	0
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:12502558C>A	ENST00000419318.1	-	4	1307	c.558G>T	c.(556-558)acG>acT	p.T186T	ZNF799_ENST00000430385.3_Silent_p.T218T|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403000													26	32					1.64293e-13	2.15739e-13	0.018920	1	0
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:237753224A>G	ENST00000366574.2	+	30	4047	c.3730A>G	c.(3730-3732)Aac>Gac	p.N1244D	RYR2_ENST00000542537.1_Missense_Mutation_p.N1228D|RYR2_ENST00000360064.6_Missense_Mutation_p.N1242D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1244	4 X approximate repeats.				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.N1242D(2)		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)			CGTTAATACAAACAGGGATAT	0.398000													16	25					0	0	0.028581	0	0
TH	7054	broad.mit.edu	37	11	2191051	2191051	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:2191051C>A	ENST00000381178.1	-	3	252	c.234G>T	c.(232-234)aaG>aaT	p.K78N	TH_ENST00000381175.1_Missense_Mutation_p.K74N|TH_ENST00000333684.5_Missense_Mutation_p.K51N|TH_ENST00000352909.3_Missense_Mutation_p.K47N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	78					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCTCCCGCTCCTTGCGGGCGT	0.721000													9	35					1.12685e-05	1.27383e-05	0.004482	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31378209A>G	ENST00000297142.3	-	2	996	c.674T>C	c.(673-675)cTt>cCt	p.L225P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	225					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L225P(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAATTATCAAGAGTCCCATG	0.527000													39	70					0	0	0.027894	0	0
GLI2	2736	broad.mit.edu	37	2	121747078	121747078	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:121747078G>T	ENST00000452319.1	+	14	3648	c.3588G>T	c.(3586-3588)ggG>ggT	p.G1196G	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.G1196G			P10070	GLI2_HUMAN	GLI family zinc finger 2	1196					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1196G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTAGCCCTGGGGGCCTGGACA	0.672000													22	31					1.37657e-19	1.88914e-19	0.012319	1	0
SH2D2A	9047	broad.mit.edu	37	1	156779566	156779566	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156779566C>T	ENST00000392306.2	-	6	770	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SH2D2A_ENST00000368199.3_Missense_Mutation_p.E201K|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E183K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	201	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E211K(1)|p.E201K(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGATTCTTCGGTCCTCAGG	0.582000													37	213					0	0	0.025465	0	0
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171250036C>A	ENST00000354841.4	+	5	870	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	FMO1_ENST00000402921.2_Missense_Mutation_p.L184I|FMO1_ENST00000367750.3_Missense_Mutation_p.L247I|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L247I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAATTCCCTCCCAACCCC	0.468000													11	48					5.16669e-11	6.59087e-11	0.010729	1	0
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:117660523T>A	ENST00000317775.6	-	26	4657	c.3972A>T	c.(3970-3972)ccA>ccT	p.P1324P	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.P1358P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1324					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTTACCTTTGGTTTGTCTG	0.552000													67	108					0	0	0.014410	0	0
SUSD2	56241	broad.mit.edu	37	22	24580910	24580910	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:24580910T>G	ENST00000358321.3	+	5	1043		c.e5+2			NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2						immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGGCAGAAGTAAGAAGGCAT	0.607000													11	26					0	0	0.013537	0	0
ASXL3	80816	broad.mit.edu	37	18	31326136	31326136	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:31326136G>C	ENST00000269197.5	+	12	6324	c.6324G>C	c.(6322-6324)atG>atC	p.M2108I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAATGAAATGAAAGAACAGT	0.383000													3	79					0	0	0.004672	0	0
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29001982C>G	ENST00000282397.4	-	9	1434	c.1183G>C	c.(1183-1185)Gta>Cta	p.V395L	FLT1_ENST00000541932.1_Missense_Mutation_p.V395L|FLT1_ENST00000539099.1_Missense_Mutation_p.V395L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	395	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.V395L(4)|p.V395I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCAGTTACGTCCTTGATA	0.388000													15	39					0	0	0.024245	0	0
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:108502082G>T	ENST00000368986.4	+	7	1519	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V308L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.V271L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTTACAAGAGGTGGTGGCTCG	0.423000													33	41					8.88839e-20	1.22215e-19	0.010818	1	0
MIB2	142678	broad.mit.edu	37	1	1565853	1565853	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:1565853C>G	ENST00000357210.4	+	20	3201	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	MIB2_ENST00000378708.1_Silent_p.L901L|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000378710.3_Silent_p.L959L|MIB2_ENST00000360522.4_Silent_p.L960L|MIB2_ENST00000505820.2_Silent_p.L1052L|MIB2_ENST00000355826.5_Silent_p.L1038L|MIB2_ENST00000520777.1_Silent_p.L1048L|MIB2_ENST00000504599.1_Silent_p.L951L|MIB2_ENST00000518681.1_Silent_p.L987L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	995					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.L995L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCCGCGCTCAGCGCCTGCC	0.716000													6	12					0	0	0.021553	0	0
MYLIP	29116	broad.mit.edu	37	6	16143378	16143378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:16143378C>T	ENST00000349606.4	+	3	553	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	MYLIP_ENST00000356840.3_Nonsense_Mutation_p.Q198*			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	198	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q198*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TAGCGAAGGGCAGAAACTGCT	0.443000													6	52					0	0	0.021553	0	0
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:49373271C>T	ENST00000293549.3	+	2	161	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	42					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.S42F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AACGTAGCCTCCTCCACGAAC	0.552000													25	67					0	0	0.034045	0	0
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:1930451A>T	ENST00000380815.4	-	7	926	c.657T>A	c.(655-657)gtT>gtA	p.V219V	GMDS_ENST00000530927.1_Silent_p.V189V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V219V(2)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTTCGAGTAACGAAATTAG	0.433000													31	18					0	0	0.037714	0	0
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248737412A>G	ENST00000328782.2	-	1	668	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216T(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACCATGATGGGGGTGAG	0.572000													26	94					0	0	0.027356	0	0
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:66467425A>G	ENST00000273854.3	-	3	1444	c.844T>C	c.(844-846)Tgg>Cgg	p.W282R	EPHA5_ENST00000432638.2_Missense_Mutation_p.W282R|EPHA5_ENST00000511294.1_Missense_Mutation_p.W282R|EPHA5_ENST00000354839.4_Missense_Mutation_p.W282R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	282	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.W282R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCACCAGCCACTCCCCTTCG	0.532000										TSP Lung(17;0.13)			12	18					0	0	0.013537	0	0
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:36675196G>T	ENST00000399881.3	+	10	1061	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V342L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACATCACTGTGGACAGTGT	0.458000													19	24					2.4624e-09	3.04868e-09	0.008871	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140558439A>G	ENST00000239444.2	+	1	1069	c.824A>G	c.(823-825)aAc>aGc	p.N275S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		275	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N275S(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGAGTCAACGGAGAGATT	0.423000													27	73					0	0	0.021523	0	0
ZNF93	81931	broad.mit.edu	37	19	20045245	20045245	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20045245C>G	ENST00000343769.5	+	4	1509	c.1481C>G	c.(1480-1482)tCt>tGt	p.S494C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	494						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S494C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCAGTCCTCTTCCCTTACT	0.368000													3	24					0	0	0.004672	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743005	5743005	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:5743005A>C	ENST00000414202.2	+	9	1229	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	KIAA1432_ENST00000449720.2_Silent_p.G267G|KIAA1432_ENST00000251879.6_Silent_p.G346G|KIAA1432_ENST00000418622.3_Silent_p.G267G|KIAA1432_ENST00000381532.2_Silent_p.G267G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	346						integral to membrane		p.G267G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CACTTGGAGGAGATTTTGCGT	0.373000													4	16					0	0	0.014758	0	0
LSM5	23658	broad.mit.edu	37	7	32529942	32529942	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:32529942C>A	ENST00000450169.2	-	1	88	c.36G>T	c.(34-36)ctG>ctT	p.L12L	LSM5_ENST00000409987.1_Silent_p.L12L|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409909.3_Intron|LSM5_ENST00000410044.1_5'UTR	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.L12L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CTAAGGGCAGCAGCTGCGACG	0.617000													11	61					4.3838e-07	5.14683e-07	0.016723	1	0
OR6F1	343169	broad.mit.edu	37	1	247875710	247875710	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247875710T>A	ENST00000302084.2	-	1	395	c.348A>T	c.(346-348)gcA>gcT	p.A116A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCATGGCTGCCAGGAGGA	0.517000													6	43					0	0	0.021553	0	0
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32017941C>A	ENST00000375244.3	-	27	9474	c.9273G>T	c.(9271-9273)ctG>ctT	p.L3091L	TNXB_ENST00000375247.2_Silent_p.L3089L			P22105	TENX_HUMAN	tenascin XB	3136					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L3156L(2)|p.L3091L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGACCAGGAAGTGGT	0.642000													35	59					3.62531e-18	4.95147e-18	0.019004	1	0
NDUFAF7	55471	broad.mit.edu	37	2	37464981	37464981	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:37464981A>G	ENST00000002125.4	+	4	419	c.379A>G	c.(379-381)Agg>Ggg	p.R127G	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R100G|NDUFAF7_ENST00000483999.1_Intron	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7									p.R127G(1)									GGGCCCAGGTAGGGGAACCCT	0.423000													4	19					0	0	0.009096	0	0
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:35804322G>C	ENST00000392213.3	+	11	2005	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.E591Q	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	616					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E616Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACGGAGGAGCTAGCTGA	0.652000													11	45					0	0	0.008291	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706012	41706012	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41706012C>A	ENST00000379485.1	-	1	870	c.636G>T	c.(634-636)gaG>gaT	p.E212D	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E146D	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	212							protein binding	p.E212D(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGCTAGAGTCTCCTCCCGAA	0.562000													17	107					6.49762e-13	8.45459e-13	0.006122	1	0
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:7056721A>C	ENST00000310074.7	+	2	1392	c.1203A>C	c.(1201-1203)ctA>ctC	p.L401L	TADA2B_ENST00000512388.1_Silent_p.L326L|TADA2B_ENST00000515646.1_Silent_p.L309L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.L401L(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAAAGTCCTAAAGAAAAGGA	0.488000													11	32					0	0	0.008291	0	0
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184102332G>C	ENST00000204604.1	+	13	1694	c.1448G>C	c.(1447-1449)gGt>gCt	p.G483A	CHRD_ENST00000450923.1_Missense_Mutation_p.G483A|CHRD_ENST00000545352.1_Missense_Mutation_p.G113A|CHRD_ENST00000348986.3_Missense_Mutation_p.G443A|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607000													189	159					0	0	0.014410	0	0
SPEF2	79925	broad.mit.edu	37	5	35654779	35654779	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35654779G>C	ENST00000440995.2	+	7	929	c.929G>C	c.(928-930)aGa>aCa	p.R310T	SPEF2_ENST00000356031.3_Missense_Mutation_p.R310T|SPEF2_ENST00000282469.6_Missense_Mutation_p.R310T|SPEF2_ENST00000509059.1_Missense_Mutation_p.R310T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	310					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R310T(2)		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)			AGGGAGAAAAGACGGCGGAAA	0.388000													6	30					0	0	0.021553	0	0
PLD1	5337	broad.mit.edu	37	3	171395480	171395480	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:171395480G>A	ENST00000342215.6	-	15	1659	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PLD1_ENST00000356327.5_Silent_p.T586T|PLD1_ENST00000351298.4_Silent_p.T624T|PLD1_ENST00000340989.4_Silent_p.T624T			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T624T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATGGACCCGGTATCTGTGA	0.488000													7	60					0	0	0.029380	0	0
UBC	7316	broad.mit.edu	37	12	125397990	125397990	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125397990C>T	ENST00000536769.1	-	1	1904	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	UBC_ENST00000538617.1_Missense_Mutation_p.E110K|UBC_ENST00000339647.5_Missense_Mutation_p.E110K|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	110	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E110K(1)|p.I106fs*10(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAATGCCTTCCTTGTCCTGG	0.522000													28	209					0	0	0.037714	0	0
TPSD1	23430	broad.mit.edu	37	16	1306299	1306299	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:1306299C>A	ENST00000211076.3	+	1	166	c.18C>A	c.(16-18)ccC>ccA	p.P6P	TPSD1_ENST00000397534.2_Intron	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	6					proteolysis	extracellular region	serine-type endopeptidase activity	p.P6P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TCCTTGCTCCCCAGATGCTGA	0.711000													22	72					7.87624e-14	1.04287e-13	0.016522	1	0
HNRNPH1	3187	broad.mit.edu	37	5	179044535	179044535	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:179044535G>C	ENST00000356731.5	-	8	2572	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	HNRNPH1_ENST00000510411.1_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000442819.2_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000393432.4_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000329433.6_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000511300.2_Nonsense_Mutation_p.S76*			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	346	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGTCTTTTGACATAGCTGC	0.408000													5	69					0	0	0.021553	0	0
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:111147283C>G	ENST00000485317.1	-	3	795	c.122G>C	c.(121-123)gGg>gCg	p.G41A	KCNA2_ENST00000316361.4_Missense_Mutation_p.G41A|KCNA2_ENST00000369770.3_Missense_Mutation_p.G41A|KCNA2_ENST00000440270.1_Missense_Mutation_p.G41A|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	41						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G41A(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAACCGCAGCCCTGAGATGTT	0.572000													49	161					0	0	0.014410	0	0
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:142143645G>T	ENST00000262990.4	+	2	348	c.120_splice	c.e2+1	p.M40_splice	ZNF330_ENST00000421169.2_Splice_Site_p.W4_splice	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.M40I(2)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATGCCTCAATGGTATCAGCTT	0.363000													7	14					1.12685e-05	1.27383e-05	0.004482	1	0
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	G	A	rs148297848	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:41010795G>A	ENST00000373161.1	+	2	316	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TSPO2_ENST00000470917.1_Missense_Mutation_p.R24H|TSPO2_ENST00000373158.2_Missense_Mutation_p.R24H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	24					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.R24H(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTTCACTCGTGATCACATG	0.552000													60	70					0	0	0.014410	0	0
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:109055932T>C	ENST00000261401.3	-	4	493	c.321A>G	c.(319-321)gtA>gtG	p.V107V	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Silent_p.V2V|CORO1C_ENST00000420959.2_Silent_p.V160V|CORO1C_ENST00000549772.1_Silent_p.V113V|CORO1C_ENST00000541050.1_Silent_p.V107V	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	107					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.V107V(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGATCTGCCATACCTGTTGGA	0.438000													10	19					0	0	0.006214	0	0
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:228497784C>A	ENST00000409066.1	-	1	252	c.18G>T	c.(16-18)ctG>ctT	p.L6L	C2orf83_ENST00000264387.4_Silent_p.L6L	NM_001162483.1	NP_001155955.1	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	6						membrane	folic acid binding|reduced folate carrier activity	p.L6L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTCCAAACGTCAGGGCATAGT	0.428000													12	17					0.000151284	0.000164891	0.016723	1	0
CUL5	8065	broad.mit.edu	37	11	107965125	107965125	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:107965125G>A	ENST00000393094.2	+	14	2067	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	484					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.G484D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TAGGAAGTTGGTATGCCAGCG	0.289000													4	25					0	0	0.014758	0	0
POLR2D	5433	broad.mit.edu	37	2	128610524	128610524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128610524T>A	ENST00000272645.4	-	2	285	c.229A>T	c.(229-231)Aga>Tga	p.R77*	POLR2D_ENST00000409955.1_Nonsense_Mutation_p.R77*|POLR2D_ENST00000409698.1_Nonsense_Mutation_p.R39*|POLR2D_ENST00000487079.1_Intron	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	77					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.R77*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		ATGGTCTCTCTGTTTTTGAAA	0.438000													20	125					0	0	0.010504	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92714702G>C	ENST00000257068.2	+	2	319	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	105					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.G105R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCTATGACGGCTGGGCCCT	0.572000													64	166					0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135431523C>T	ENST00000394143.1	+	6	5949	c.5658C>T	c.(5656-5658)ccC>ccT	p.P1886P	GPR112_ENST00000370652.1_Silent_p.P1886P|GPR112_ENST00000394141.1_Silent_p.P1681P|GPR112_ENST00000287534.4_Silent_p.P1823P|GPR112_ENST00000412101.1_Silent_p.P1681P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1886					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1886P(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAACATACCCACAGCTGAAG	0.443000													20	46					0	0	0.008871	0	0
VDAC3	7419	broad.mit.edu	37	8	42259420	42259420	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42259420C>T	ENST00000392935.3	+	7	584	c.441C>T	c.(439-441)ttC>ttT	p.F147F	VDAC3_ENST00000022615.4_Silent_p.F146F|VDAC3_ENST00000521158.1_Silent_p.F147F|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	146					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.F146F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGTTGGCCTTCGAAGGGTGGC	0.463000													13	86					0	0	0.020292	0	0
NMT2	9397	broad.mit.edu	37	10	15210517	15210517	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15210517G>C	ENST00000378165.4	-	1	175	c.95C>G	c.(94-96)aCg>aGg	p.T32R	NMT2_ENST00000378150.1_Missense_Mutation_p.R5G	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	32					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.T32R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGCGTGCTCCGTCTCCTCCTC	0.726000													9	63					0	0	0.008291	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:35541202C>A	ENST00000287272.2	+	5	728	c.708C>A	c.(706-708)atC>atA	p.I236I	UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000404895.2_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000416672.1_Silent_p.I236I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000													9	11					0.000274275	0.000296906	0.004482	1	0
GLO1	2739	broad.mit.edu	37	6	38670747	38670747	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:38670747C>A	ENST00000373365.4	-	1	170	c.84_splice	c.e1+1	p.K28_splice		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	28					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	p.K28N(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	CTGTGCCCACCTTGGTACTGG	0.721000													14	15					4.36969e-10	5.44308e-10	0.016723	1	0
CLTCL1	8218	broad.mit.edu	37	22	19175510	19175510	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:19175510C>G	ENST00000263200.10	-	28	4489	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1473	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCTCCTCCTCTGTCAGCAGG	0.592000			T	?	ALCL								22	137					0	0	0.014323	0	0
BRINP3	339479	broad.mit.edu	37	1	190067152	190067152	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:190067152C>A	ENST00000367462.3	-	8	2528	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	FAM5C_ENST00000534846.1_Missense_Mutation_p.S664I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		766						extracellular region		p.S766I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATGGTTAACTACATAATTT	0.373000													9	87					0.000442599	0.000476953	0.006214	1	0
CYP24A1	1591	broad.mit.edu	37	20	52774070	52774070	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:52774070C>T	ENST00000216862.3	-	10	1684	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CYP24A1_ENST00000395954.3_Missense_Mutation_p.D289N|CYP24A1_ENST00000395955.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	431					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.D431N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGACTTGAATCTTCAAAATTG	0.393000													13	84					0	0	0.016723	0	0
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79616095C>G	ENST00000296739.4	+	1	306	c.61C>G	c.(61-63)Cct>Gct	p.P21A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P21A(2)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAACCCTACTCCTGATCCTCA	0.473000													30	121					0	0	0.009535	0	0
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:215279129A>G	ENST00000312504.5	+	2	1014	c.212A>G	c.(211-213)cAt>cGt	p.H71R	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.H71R	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	71	VWFC 1.					extracellular region		p.H71R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCCCTGGGCATTCCAACTGT	0.453000													6	8					0	0	0.021553	0	0
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103731G>T	ENST00000408890.4	+	1	383	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123								p.G123W(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATGAAAGGGGGGCTGTGTCG	0.701000													12	42					7.93312e-07	9.23056e-07	0.020292	1	0
PDE6A	5145	broad.mit.edu	37	5	149274852	149274852	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149274852G>T	ENST00000255266.5	-	13	1741	c.1620_splice	c.e13-1	p.A541_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	541					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCACCAGGGCCTGTGAACA	0.542000													7	33					0.00198382	0.00209054	0.029380	1	0
INTS1	26173	broad.mit.edu	37	7	1523686	1523686	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:1523686C>G	ENST00000389470.4	-	26	3867	c.3868G>C	c.(3868-3870)Gtg>Ctg	p.V1290L	INTS1_ENST00000404767.3_Missense_Mutation_p.V1128L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1128					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.V1290L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATGCGCCTCACGTAGCGTGAG	0.662000													20	41					0	0	0.010504	0	0
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:143181690G>A	ENST00000513000.1	-	12	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	INPP4B_ENST00000308502.4_Missense_Mutation_p.P215S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215S|INPP4B_ENST00000508116.1_Missense_Mutation_p.P215S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279000													8	12					0	0	0.003080	0	0
ICA1L	130026	broad.mit.edu	37	2	203653590	203653590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203653590G>A	ENST00000392237.2	-	12	1363	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	ICA1L_ENST00000358299.2_Silent_p.L402L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	402								p.L402L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAGGTCAAAGAGTTGTGAAG	0.483000													8	36					0	0	0.004482	0	0
FADS6	283985	broad.mit.edu	37	17	72875562	72875562	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72875562G>A	ENST00000310226.6	-	5	892	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	299					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.P298L(1)|p.P293L(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAGAGCCTGGGGAATAGATG	0.582000													9	51					0	0	0.008291	0	0
FAM83C	128876	broad.mit.edu	37	20	33875629	33875629	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33875629G>C	ENST00000374408.3	-	4	1049	c.953C>G	c.(952-954)tCt>tGt	p.S318C		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	318										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCCGGGGAGACAGCGGGTC	0.667000													5	18					0	0	0.014758	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	G	T	rs142320179		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:6606404G>T	ENST00000433363.2	-	5	834	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	SLC13A5_ENST00000573648.1_Silent_p.R201R|SLC13A5_ENST00000381074.4_Silent_p.R158R|SLC13A5_ENST00000293800.6_Silent_p.R184R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	201						integral to membrane	citrate transmembrane transporter activity	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACCTCTTCCGCTCTTGGTCT	0.632000													38	54					1.69901e-12	2.20671e-12	0.023175	1	0
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:315104G>T	ENST00000408968.3	+	2	687	c.369G>T	c.(367-369)cgG>cgT	p.R123R	IFITM1_ENST00000328221.5_Silent_p.R123R|IFITM1_ENST00000528780.1_Silent_p.R123R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	p.R123R(2)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAAAACGGGGTTACTAGT	0.527000													18	59					4.63292e-17	6.3036e-17	0.008871	1	0
CD276	80381	broad.mit.edu	37	15	73991925	73991925	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:73991925A>G	ENST00000318443.5	+	2	248		c.e2-1		CD276_ENST00000561213.1_Splice_Site|CD276_ENST00000537340.2_Intron|CD276_ENST00000318424.5_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCTTTCTCCCAGGCAGGGGCA	0.637000													3	12					0	0	0.004672	0	0
SCN10A	6336	broad.mit.edu	37	3	38770045	38770045	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:38770045T>C	ENST00000449082.2	-	15	2627	c.2628A>G	c.(2626-2628)ctA>ctG	p.L876L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	876					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGGTTCCCTAGCACCATCA	0.502000													4	36					0	0	0.009096	0	0
CEP152	22995	broad.mit.edu	37	15	49059597	49059597	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49059597T>A	ENST00000380950.2	-	16	2269	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	CEP152_ENST00000325747.5_Missense_Mutation_p.L601F|CEP152_ENST00000399334.3_Missense_Mutation_p.L694F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	694					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATGCTTTGCTAATAGGCTTT	0.438000													7	15					0	0	0.003080	0	0
PTGER2	5732	broad.mit.edu	37	14	52781297	52781297	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:52781297G>A	ENST00000245457.5	+	1	185	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	11						integral to plasma membrane	prostaglandin E receptor activity	p.E11K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCCCAGTCTGAGGACTGCGA	0.627000													7	76					0	0	0.003080	0	0
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:42511835G>C	ENST00000318522.5	+	9	1265	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	EML4_ENST00000401738.3_Missense_Mutation_p.D346H|EML4_ENST00000402711.2_Missense_Mutation_p.D277H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.D335H(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGGATAAAGATGGAAGGGT	0.368000			T	ALK	NSCLC								6	24					0	0	0.021553	0	0
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52257047C>A	ENST00000597542.1	-	9	2314	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	TLR9_ENST00000360658.2_Nonsense_Mutation_p.G429*|TLR9_ENST00000494383.1_Missense_Mutation_p.R582L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCGAAGCTCCGCTGATGCGG	0.642000													45	132					3.61183e-13	4.72545e-13	0.014410	1	0
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31793152A>T	ENST00000396193.1	-	19	2749	c.2156T>A	c.(2155-2157)tTg>tAg	p.L719*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.L659*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.L659*	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L659*(2)|p.L719*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAAATGACGCAAAGGAGGCTT	0.483000													16	44					0	0	0.028581	0	0
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160209914G>C	ENST00000368073.3	-	4	730	c.296C>G	c.(295-297)tCa>tGa	p.S99*	DCAF8_ENST00000368074.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.S253*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.S99*|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99						CUL4 RING ubiquitin ligase complex	protein binding	p.S99*(2)|p.S253*(2)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctcttcctctGAGCGGTCATG	0.527000													21	26					0	0	0.008871	0	0
KRT82	3888	broad.mit.edu	37	12	52788853	52788853	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52788853G>T	ENST00000257974.2	-	9	1525	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGCTCGCAGGGGACATAGAG	0.632000													25	72					7.16444e-05	7.88088e-05	0.021523	1	0
PROS1	5627	broad.mit.edu	37	3	93646105	93646105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:93646105C>A	ENST00000394236.3	-	2	539	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTTTCCGGGTCATTTTCAAAG	0.393000													14	110					1.00905e-13	1.3299e-13	0.008871	1	0
KCTD1	284252	broad.mit.edu	37	18	24035815	24035815	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:24035815C>T	ENST00000417602.1	-	5	2489	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	KCTD1_ENST00000408011.3_Silent_p.G222G|KCTD1_ENST00000580059.1_Silent_p.G222G|KCTD1_ENST00000317932.7_Silent_p.G222G|KCTD1_ENST00000579973.1_Silent_p.G222G	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	222					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	p.G830G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTACTCCTCCCCCACAGGAGC	0.572000													7	66					0	0	0.003080	0	0
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116599299C>A	ENST00000395715.3	-	5	3206	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	TRPS1_ENST00000520276.1_Missense_Mutation_p.G868W|TRPS1_ENST00000220888.5_Missense_Mutation_p.G864W|TRPS1_ENST00000519076.1_Missense_Mutation_p.G618W|TRPS1_ENST00000519674.1_Missense_Mutation_p.G864W	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	864					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G877W(2)|p.G864W(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGAGGGCCCCAGACTTCTCT	0.547000									Langer-Giedion syndrome				20	67					8.00594e-06	9.10779e-06	0.007413	1	0
PCDH1	5097	broad.mit.edu	37	5	141233739	141233739	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:141233739G>C	ENST00000287008.3	-	5	3729	c.3582C>G	c.(3580-3582)ttC>ttG	p.F1194L	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.F1194L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TACTGTGGGAGAAGGCACTGT	0.677000													6	15					0	0	0.021553	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99662084G>A	ENST00000543588.1	+	6	1407	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	ZSCAN21_ENST00000292450.4_Silent_p.G422G|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G388E|ZNF3_ENST00000413658.2_3'UTR			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	231					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G422G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGTGTGGGAAAGCCTTCA	0.512000													17	21					0	0	0.033300	0	0
AXIN1	8312	broad.mit.edu	37	16	347741	347741	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:347741T>C	ENST00000262320.3	-	6	2136	c.1765A>G	c.(1765-1767)Agt>Ggt	p.S589G	AXIN1_ENST00000354866.3_Missense_Mutation_p.S589G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	589	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.S589G(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGCCATCACTGGCGTTGGGG	0.652000													6	18					0	0	0.029380	0	0
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24631533G>T	ENST00000396864.3	+	2	467	c.180_splice	c.e2+1	p.K60_splice	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	60					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.K60N(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTTCTTCAAGGTGAAAGGGC	0.532000													18	62					7.05477e-17	9.58965e-17	0.033300	1	0
SLC38A9	153129	broad.mit.edu	37	5	54960619	54960619	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54960619G>A	ENST00000539768.1	-	6	598	c.599C>T	c.(598-600)tCg>tTg	p.S200L	SLC38A9_ENST00000512595.1_Missense_Mutation_p.S173L|SLC38A9_ENST00000515629.1_Missense_Mutation_p.S137L|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S200L|SLC38A9_ENST00000396865.2_Missense_Mutation_p.S200L|SLC38A9_ENST00000416547.2_Missense_Mutation_p.S76L			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAGGAGACTCGACCACTGCCC	0.368000													3	24					0	0	0.009096	0	0
MYO9A	4649	broad.mit.edu	37	15	72122611	72122611	+	Silent	SNP	C	C	A	rs146276674	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:72122611C>A	ENST00000356056.5	-	40	7351	c.6879G>T	c.(6877-6879)tcG>tcT	p.S2293S	MYO9A_ENST00000424560.1_Silent_p.S2364S|MYO9A_ENST00000444904.1_Silent_p.S2274S|MYO9A_ENST00000564571.1_Silent_p.S2293S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAACAGGAGACGATGGACCTG	0.468000													3	40					6.4e-05	7.0524e-05	0.004672	1	0
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6129473G>T	ENST00000316529.3	+	1	560	c.465G>T	c.(463-465)atG>atT	p.M155I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M155I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCATCATGCTCAGGAATG	0.502000													20	57					5.03518e-11	6.44035e-11	0.007413	1	0
BCLAF1	9774	broad.mit.edu	37	6	136594296	136594296	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136594296G>A	ENST00000531224.1	-	7	2134	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L	BCLAF1_ENST00000527536.1_Silent_p.L628L|BCLAF1_ENST00000353331.4_Silent_p.L626L|BCLAF1_ENST00000527759.1_Silent_p.L626L|BCLAF1_ENST00000392348.2_Silent_p.L626L|BCLAF1_ENST00000530767.1_Silent_p.L455L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	628					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.L628L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCTCGTTTAGGGTCATTGCA	0.408000													4	81					0	0	0.009096	0	0
ABCB8	11194	broad.mit.edu	37	7	150739143	150739143	+	Silent	SNP	G	G	T	rs138648802	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:150739143G>T	ENST00000358849.4	+	14	1806	c.1713G>T	c.(1711-1713)gcG>gcT	p.A571A	ABCB8_ENST00000297504.6_Silent_p.A588A|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.A571A|ABCB8_ENST00000542328.1_Silent_p.A483A	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	588	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A571A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGGGAAGCGAATGCTCACG	0.607000													18	61					3.52763e-06	4.04857e-06	0.033300	1	0
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:58116633G>C	ENST00000357272.4	+	25	4553	c.4388G>C	c.(4387-4389)cGa>cCa	p.R1463P	FLNB_ENST00000493452.1_Missense_Mutation_p.R1294P|FLNB_ENST00000429972.2_Missense_Mutation_p.R1463P|FLNB_ENST00000490882.1_Missense_Mutation_p.R1463P|FLNB_ENST00000295956.4_Missense_Mutation_p.R1463P|FLNB_ENST00000419752.2_Missense_Mutation_p.R1294P|FLNB_ENST00000358537.3_Missense_Mutation_p.R1463P|FLNB_ENST00000348383.5_Missense_Mutation_p.R1463P			O75369	FLNB_HUMAN	filamin B, beta	1463	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R1463P(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGGGCCCACGAGGTAAGTGT	0.617000													8	16					0	0	0.003080	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724115	38724115	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:38724115G>T	ENST00000342213.2	-	1	1459	c.1113C>A	c.(1111-1113)acC>acA	p.T371T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	371						integral to membrane	sugar binding	p.T371T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCTGATGGGGTGATAGTGG	0.488000													9	43					5.4927e-09	6.77118e-09	0.004482	1	0
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:230020567C>G	ENST00000392054.3	-	3	576	c.237G>C	c.(235-237)ccG>ccC	p.P79P	PID1_ENST00000392055.3_Silent_p.P48P|PID1_ENST00000354069.6_Silent_p.P81P|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81						cytoplasm		p.P79P(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTTCATCAGCGGTGTGGTCG	0.527000													29	61					0	0	0.027356	0	0
TTN	7273	broad.mit.edu	37	2	179575833	179575833	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179575833T>G	ENST00000589042.1	-	97	28354	c.28130A>C	c.(28129-28131)aAc>aCc	p.N9377T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8133T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N9060T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9060	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTATAGGGTTTGTAGCTGT	0.383000													5	101					0	0	0.021553	0	0
NKTR	4820	broad.mit.edu	37	3	42680905	42680905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:42680905G>T	ENST00000232978.8	+	13	3897	c.3709G>T	c.(3709-3711)Gca>Tca	p.A1237S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1237					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.A1237S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAACCTGGCAGCACCTAATGC	0.478000													9	44					1.04858e-14	1.39875e-14	0.006214	1	0
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55681456G>A	ENST00000344514.1	-	1	602	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388000													6	18					0	0	0.003080	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288183	132288183	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:132288183C>T	ENST00000467992.2	+	1	947	c.633C>T	c.(631-633)gcC>gcT	p.A211A	CCDC74A_ENST00000295171.6_Silent_p.A109A|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	109										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTTCCAGGGCCTCTGCTCCCT	0.642000													8	66					0	0	0.028581	0	0
NPAS3	64067	broad.mit.edu	37	14	34269356	34269356	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:34269356C>G	ENST00000346562.2	+	11	1821	c.1747C>G	c.(1747-1749)Cgg>Ggg	p.R583G	NPAS3_ENST00000357798.5_Missense_Mutation_p.R602G|NPAS3_ENST00000551492.1_Missense_Mutation_p.R620G|NPAS3_ENST00000356141.4_Missense_Mutation_p.R615G|NPAS3_ENST00000548645.1_Missense_Mutation_p.R585G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R602G(1)|p.R583G(1)|p.R615G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGCCAGCCGCCGGCGCCTGTC	0.721000													8	15					0	0	0.004482	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:111519791C>A	ENST00000261486.5	-	18	1820	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.W515L(2)|p.W142L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TACAGCTTCCCACTGAGGCGC	0.453000													9	31					0.00829132	0.0086167	0.008291	1	0
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22040786G>T	ENST00000256906.4	+	1	194	c.94G>T	c.(94-96)Gga>Tga	p.G32*	HRH4_ENST00000426880.2_Nonsense_Mutation_p.G32*	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	32						integral to membrane|plasma membrane	histamine receptor activity	p.G32*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATAATGCTAGGAAATGCTTT	0.353000													25	46					1.85244e-09	2.29748e-09	0.018920	1	0
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:142190928G>T	ENST00000519811.1	+	17	2989	c.2919G>T	c.(2917-2919)gcG>gcT	p.A973A	DENND3_ENST00000262585.2_Silent_p.A893A|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000424248.1_Silent_p.A841A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893								p.A893A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACAAGCGGTGGACGTGC	0.577000													19	53					1.67942e-08	2.04737e-08	0.006122	1	0
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:60566883G>T	ENST00000373886.3	+	17	2345	c.2341G>T	c.(2341-2343)Gtg>Ttg	p.V781L	BICC1_ENST00000263103.1_Missense_Mutation_p.V407L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	781					multicellular organismal development		RNA binding	p.V781L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCCAATCATGTGTCCTATAA	0.468000													27	62					1.77063e-15	2.37747e-15	0.027356	1	0
SSTR3	6753	broad.mit.edu	37	22	37603250	37603250	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37603250G>T	ENST00000328544.3	-	2	1126	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.P198Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	198					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.P198Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCGCCGCCGGCTCGGGCCA	0.692000													33	23					9.17885e-22	1.27435e-21	0.015359	1	0
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62294197C>A	ENST00000378024.4	-	5	7966	c.7692G>T	c.(7690-7692)ggG>ggT	p.G2564G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2564					nervous system development	nucleus	protein binding	p.G2564G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACTTAGGCCCTTTCAACT	0.483000													51	90					2.81731e-22	3.92283e-22	0.014410	1	0
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90020012A>T	ENST00000268122.4	-	9	1353	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	RHCG_ENST00000544600.1_Missense_Mutation_p.C429S	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.C429S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTCAAAGCAGTTCTCATCT	0.547000													14	36					0	0	0.024245	0	0
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:20404000G>A	ENST00000381150.1	-	4	591	c.201C>T	c.(199-201)gaC>gaT	p.D67D	SDC1_ENST00000403076.1_Silent_p.D67D|SDC1_ENST00000254351.4_Silent_p.D67D|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	67					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.D67D(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGAGCTGCGTGTCCTTCCAAG	0.637000													90	63					0	0	0.014410	0	0
COL4A1	1282	broad.mit.edu	37	13	110817207	110817207	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:110817207A>T	ENST00000375820.4	-	46	4272		c.e46+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCTTCTCACCTTGCTGGC	0.597000													3	35					0	0	0.004672	0	0
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60636693C>T	ENST00000278853.5	+	2	272	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	91					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P91L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCAGGAGCCTGCAGTCTTC	0.577000													16	30					0	0	0.006122	0	0
COL9A3	1299	broad.mit.edu	37	20	61461738	61461738	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61461738C>T	ENST00000343916.3	+	23	1191	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	396	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.P396P(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AAGGCCCTCCCGGAGCCCCTG	0.692000													3	5					0	0	0.009096	0	0
BMPR2	659	broad.mit.edu	37	2	203421164	203421164	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203421164G>A	ENST00000374580.4	+	12	3315	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	926					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CACAGCAGCAGATCCTGGGCC	0.488000													5	149					0	0	0.014758	0	0
VPS13C	54832	broad.mit.edu	37	15	62212764	62212764	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:62212764G>T	ENST00000261517.5	-	56	7218	c.7145C>A	c.(7144-7146)tCt>tAt	p.S2382Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.S2382Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2339Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2339Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2382					protein localization			p.S2382Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTCCTGAAGAAATATGAAT	0.308000													3	10					6.4e-05	7.0524e-05	0.004672	1	0
TSHR	7253	broad.mit.edu	37	14	81610458	81610458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:81610458C>A	ENST00000541158.2	+	11	2378	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	TSHR_ENST00000298171.2_Missense_Mutation_p.Q686K|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAGGCCTTCCAGAGGGATGT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	151					0.0135373	0.0139973	0.013537	1	0
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	C	A	rs145032542	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27169157C>A	ENST00000360046.5	-	2	715	c.650G>T	c.(649-651)cGc>cTc	p.R217L	HOXA3_ENST00000467897.2_Intron|HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R217L	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGTTCGAGAGCGCTTAGGCTC	0.592000													14	54					0.00400662	0.00420666	0.028581	1	0
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124103792T>A	ENST00000360013.3	+	11	1992	c.1865T>A	c.(1864-1866)cTg>cAg	p.L622Q	KALRN_ENST00000240874.3_Missense_Mutation_p.L622Q|KALRN_ENST00000460856.1_Missense_Mutation_p.L622Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	622					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L622Q(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTCGACACCTGGAGGTGCGC	0.562000													18	43					0	0	0.033300	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285754	85285754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:85285754G>T	ENST00000450363.3	-	2	604	c.146C>A	c.(145-147)aCa>aAa	p.T49K	SLC6A15_ENST00000266682.5_Missense_Mutation_p.T49K|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCAACATCTGTATCTTTCTC	0.408000													7	72					0.0293803	0.0299671	0.029380	1	0
NTSR1	4923	broad.mit.edu	37	20	61386117	61386117	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61386117C>T	ENST00000370501.3	+	2	1166	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	265						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.V265V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGCTGACCGTCATGGTACGCC	0.617000													9	97					0	0	0.004482	0	0
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75265292C>T	ENST00000325680.7	+	5	3416	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q903*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Q1098*(2)|p.Q903*(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGTGGTCTTCAAGGGAGCCA	0.602000													47	37					0	0	0.014410	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175614714C>A	ENST00000348749.5	-	7	1039	c.962G>T	c.(961-963)cGc>cTc	p.R321L	CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557000													45	49					1.00953e-15	1.35807e-15	0.013114	1	0
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:45397883C>G	ENST00000389039.6	-	18	2677	c.2292G>C	c.(2290-2292)cgG>cgC	p.R764R	DUOX2_ENST00000603300.1_Silent_p.R764R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	764					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	p.R764R(2)		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)		GGATGCGTTCCCGCTGCTGCT	0.557000													39	53					0	0	0.023175	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305589	110305589	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110305589G>C	ENST00000239690.4	-	4	998	c.624C>G	c.(622-624)atC>atG	p.I208M	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I179M	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	208								p.I208M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTTCTTACTGATAGTGACCC	0.363000													3	43					0	0	0.004672	0	0
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:169528470C>T	ENST00000367796.3	-	5	852	c.651G>A	c.(649-651)gtG>gtA	p.V217V	F5_ENST00000546081.1_Silent_p.V80V|F5_ENST00000367797.3_Silent_p.V217V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	217	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V217V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCATCAAACACAGCAAATA	0.463000													26	25					0	0	0.024334	0	0
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39884738G>T	ENST00000341184.6	+	2	1601	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	462					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.G462G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCGCACCGGGGGCTGGTTCG	0.627000													27	21					9.86323e-18	1.34456e-17	0.021523	1	0
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219507065G>A	ENST00000411696.2	-	7	4953	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1392W			P52746	ZN142_HUMAN	zinc finger protein 142	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1229W(2)|p.R1392W(2)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCCCACCCGCTCCCGGGCA	0.637000													92	86					0	0	0.014410	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21947917C>T	ENST00000406877.3	-	4	791	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R137H|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R125H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	171					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R171H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTCTGTAAGCGTGCGCTAGA	0.428000													18	32					0	0	0.006122	0	0
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105515907C>G	ENST00000332180.5	+	10	764	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	226					endosome transport	WASH complex		p.S226C(2)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTACTGAAATCTGTCCATCAC	0.289000													9	17					0	0	0.004482	0	0
C20orf194	25943	broad.mit.edu	37	20	3262307	3262307	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3262307C>T	ENST00000252032.9	-	28	2659	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	864								p.M864I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTAGCAGCTCATGGGCTCCA	0.483000													8	60					0	0	0.003080	0	0
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58477469G>C	ENST00000344743.3	-	6	802	c.661C>G	c.(661-663)Cta>Gta	p.L221V	GLYAT_ENST00000529732.1_Missense_Mutation_p.L221V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	221					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.L221V(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTCCATTAGATCCCAGCAC	0.552000													18	52					0	0	0.007413	0	0
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	G	T	rs115610738	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:74682559G>T	ENST00000233331.7	+	2	179	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	INO80B_ENST00000409917.1_Missense_Mutation_p.G29C|INO80B_ENST00000469849.1_Intron	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	29					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G16C(2)|p.G29C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGCCTGGCGGGTGCCCATGG	0.562000													14	58					0.000151284	0.000164891	0.016723	1	0
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11917571A>T	ENST00000323169.5	+	3	1134	c.803A>T	c.(802-804)gAg>gTg	p.E268V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E268V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACACTGGAGAGAGGCCTCAT	0.413000													24	23					0	0	0.021523	0	0
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:34295058T>C	ENST00000361162.6	-	14	1657	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	RBM39_ENST00000528062.3_Missense_Mutation_p.M409V|RBM39_ENST00000253363.6_Missense_Mutation_p.M431V|RBM39_ENST00000407261.4_Missense_Mutation_p.M274V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	431	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.M431V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGGTTAAACATGTTAGAGAGT	0.323000													5	12					0	0	0.014758	0	0
WNT9A	7483	broad.mit.edu	37	1	228109549	228109549	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228109549G>A	ENST00000272164.5	-	4	778	c.768C>T	c.(766-768)acC>acT	p.T256T	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	256					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CTTCATTGGTGGTGCTGCCCA	0.672000													13	94					0	0	0.016723	0	0
ZNF500	26048	broad.mit.edu	37	16	4802892	4802892	+	Missense_Mutation	SNP	C	C	A	rs75619376	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:4802892C>A	ENST00000219478.6	-	6	1227	c.928G>T	c.(928-930)Ggc>Tgc	p.G310C	ZNF500_ENST00000545009.1_Missense_Mutation_p.G310C|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	310					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G310C(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGTGGGGGGCCGCCTCTTGGC	0.662000													17	64					2.23348e-06	2.57156e-06	0.028581	1	0
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48805800T>G	ENST00000316623.5	-	13	1989	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	512	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.T512P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGACAGGTGTACGAACCC	0.473000													7	31					0	0	0.003080	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540407	115540407	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:115540407A>G	ENST00000354462.3	+	6	622	c.464A>G	c.(463-465)cAt>cGt	p.H155R	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H323R|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H239R					pleckstrin homology domain containing, family S member 1									p.H323R(1)									GAGACATTCCATGCTGCATCC	0.423000													6	29					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179451993	179451993	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179451993G>T	ENST00000589042.1	-	307	64169	c.63945C>A	c.(63943-63945)acC>acA	p.T21315T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T12375T|TTN_ENST00000460472.2_Silent_p.T12250T|TTN_ENST00000342992.6_Silent_p.T18747T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T12442T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.T19674T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19674	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18747T(1)|p.T12250T(1)|p.T18745T(1)|p.T12442T(1)|p.T12375T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGGTAACGGTCGACCATG	0.488000													12	63					0.000978159	0.00104308	0.010729	1	0
CHMP4B	128866	broad.mit.edu	37	20	32436305	32436305	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32436305T>C	ENST00000217402.2	+	2	388	c.223T>C	c.(223-225)Tat>Cat	p.Y75H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	75					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.Y75H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAAGAAGAGGTATGAGAAGCA	0.567000													8	45					0	0	0.004482	0	0
LILRP2	79166	broad.mit.edu	37	19	55221963	55221963	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55221963C>T	ENST00000413439.1	+	0	1490																											CGTGACCCTGCTGTGTCAGTC	0.622000													12	56					0	0	0.020292	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696877	205696877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:205696877G>A	ENST00000367142.4	-	3	426	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	42						nucleus		p.R42*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTAGCTTCTCGGGGAGATGAT	0.378000													6	38					0	0	0.021553	0	0
DPP4	1803	broad.mit.edu	37	2	162876803	162876803	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:162876803A>T	ENST00000360534.3	-	14	1740	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	394					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.C394S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAAATGTGCAGTCCTGATGG	0.323000													3	37					0	0	0.004672	0	0
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76243112A>G	ENST00000298832.9	+	23	2511	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TTLL5_ENST00000554510.1_Missense_Mutation_p.K278R|TTLL5_ENST00000556893.1_Missense_Mutation_p.K320R|TTLL5_ENST00000557636.1_Missense_Mutation_p.K783R|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.K769R(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGCTGAAAAGAAATCAAAG	0.378000													29	20					0	0	0.009535	0	0
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56544115G>C	ENST00000390649.3	+	8	2415	c.2415G>C	c.(2413-2415)ctG>ctC	p.L805L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	805						mitochondrion|nucleolus	ATP binding	p.L805L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGCCAAGCTGAGGCATCCCA	0.607000													21	99					0	0	0.012319	0	0
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:58786579G>A	ENST00000589222.1	+	5	282		c.e5-1		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCTAATGCAGATACATCAAG	0.343000													11	32					0	0	0.010729	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486733	20486733	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:20486733A>C	ENST00000573854.1	+	7	1058	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	ACSM2A_ENST00000396104.2_Missense_Mutation_p.Y315S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Y315S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Y87S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Y315S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Y236S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.Y315S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCATTGTTTACCGGATGTTG	0.507000													8	45					0	0	0.004482	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716437	142716437	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:142716437C>G	ENST00000381779.4	-	2	2713	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E830Q|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E830Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	830						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTTGCTCCTCAAGGACC	0.398000													7	33					0	0	0.006214	0	0
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:22211041T>C	ENST00000374695.3	-	13	1713	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	545	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.D545G(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCGGGTTGGTCAAAGCGCAG	0.662000													36	138					0	0	0.027894	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503611	32503611	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32503611C>A	ENST00000327300.7	+	6	1248	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P322T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	361	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P361T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCTCCACCTCCTGCACCAGA	0.527000													16	100					3.41278e-10	4.26971e-10	0.033300	1	0
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21235014C>A	ENST00000233242.1	-	26	4853	c.4726G>T	c.(4726-4728)Ggg>Tgg	p.G1576W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1576W(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATACTTCCCATTGGTGTCA	0.413000													21	34					1.37657e-19	1.88914e-19	0.012319	1	0
SACS	26278	broad.mit.edu	37	13	23913317	23913317	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:23913317G>A	ENST00000382298.3	-	10	5286	c.4698C>T	c.(4696-4698)atC>atT	p.I1566I	SACS_ENST00000402364.1_Silent_p.I816I|SACS_ENST00000382292.3_Silent_p.I1566I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1566					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGTCAGTGATATGGTACA	0.343000													5	46					0	0	0.021553	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:122263423T>A	ENST00000398250.1	+	2	502	c.150T>A	c.(148-150)ccT>ccA	p.P50P	PPAPDC1A_ENST00000369073.3_Silent_p.P40P|PPAPDC1A_ENST00000439221.1_Silent_p.P50P|PPAPDC1A_ENST00000398248.1_Silent_p.P50P|PPAPDC1A_ENST00000541332.1_Silent_p.P50P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	50					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.P50P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATAACATACCTACCCGCCTCA	0.393000													15	43					0	0	0.028581	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:48578088G>A	ENST00000354276.3	-	12	1269	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PLA2G4C_ENST00000599921.1_Silent_p.L314L|PLA2G4C_ENST00000413144.2_Silent_p.L314L|PLA2G4C_ENST00000599111.1_Silent_p.L324L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	314	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.L314L(3)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATTCTCGAGCATCTCAG	0.512000													32	148					0	0	0.010818	0	0
ZNF713	349075	broad.mit.edu	37	7	55990964	55990964	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55990964G>C	ENST00000429591.2	+	2	196	c.158G>C	c.(157-159)aGg>aCg	p.R53T	MRPS17_ENST00000426595.1_Missense_Mutation_p.R53T|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAACTACAGGAATCTAGTT	0.512000													23	50					0	0	0.027356	0	0
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:72680629G>T	ENST00000261180.4	+	2	1044	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W316C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGATGGATGGGTTACGGATC	0.418000													27	52					1.1804e-14	1.57166e-14	0.021523	1	0
BCL6	604	broad.mit.edu	37	3	187447552	187447552	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:187447552C>A	ENST00000406870.2	-	5	1007	c.641G>T	c.(640-642)cGg>cTg	p.R214L	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R214L|BCL6_ENST00000450123.2_Missense_Mutation_p.R214L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	214					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCGGACATCCCGAAACTCCTC	0.622000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								13	63					4.3838e-07	5.14683e-07	0.016723	1	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709206	22709206	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22709206G>A	ENST00000314246.8	-	0	1190																											CACCTCAGAGGGCACTGCTGG	0.512000													5	67					0	0	0.003080	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140789165C>G	ENST00000520790.1	+	1	1396	c.1396C>G	c.(1396-1398)Ccg>Gcg	p.P466A	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.P466A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGAACAACCCGCCAGGAGC	0.567000													10	41					0	0	0.006214	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318258	141318258	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:141318258C>T	ENST00000432126.2	+	12	1616	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KIAA0141_ENST00000194118.4_Silent_p.S494S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	494					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.S494S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGCCTCCAGCAGGGCTA	0.567000													10	97					0	0	0.008291	0	0
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:173998896C>T	ENST00000457714.1	+	7	2704	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	NLGN1_ENST00000401917.3_Missense_Mutation_p.P799S|NLGN1_ENST00000545397.1_Missense_Mutation_p.P759S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P759S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P759S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GACCGCCTGTCCCCCAGATTA	0.458000													26	31					0	0	0.024334	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762655T>C	ENST00000392429.1	+	2	3466	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	TMEM200A_ENST00000545622.1_Missense_Mutation_p.M363T|TMEM200A_ENST00000296978.3_Missense_Mutation_p.M363T	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363						integral to membrane		p.M363T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGTCATCTATGGCTCTCGGA	0.527000													8	33					0	0	0.003080	0	0
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111395637C>T	ENST00000535254.1	-	24	3169	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	BUB1_ENST00000409311.1_Silent_p.L997L|BUB1_ENST00000302759.6_Silent_p.L1054L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1054	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L1054L(2)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATACTTTCTTCAGCTTTTGCC	0.338000													9	19					0	0	0.006214	0	0
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89638909G>C	ENST00000369485.4	-	3	438	c.252C>G	c.(250-252)atC>atG	p.I84M	RNGTT_ENST00000369475.3_Missense_Mutation_p.I84M|RNGTT_ENST00000265607.6_Missense_Mutation_p.I84M|RNGTT_ENST00000538899.1_Missense_Mutation_p.I24M	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I84M(2)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTATATATTTGATTCCTTCTT	0.269000													4	13					0	0	0.014758	0	0
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800472G>C	ENST00000408964.2	+	1	1084	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	345								p.D345H(4)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCACGTCCCAGATTCTGCTTC	0.443000													7	29					0	0	0.003080	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	15					0	0	0.014758	0	0
GRIK1	2897	broad.mit.edu	37	21	30971253	30971253	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:30971253C>T	ENST00000399914.1	-	8	1624	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	GRIK1_ENST00000399913.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R370Q|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000389124.2_Missense_Mutation_p.R368Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R368Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R370Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R368Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R368Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	368					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R368Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCCACCGGGCCTGTGG	0.383000													3	40					0	0	0.004672	0	0
RAPH1	65059	broad.mit.edu	37	2	204322288	204322288	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:204322288C>G	ENST00000319170.5	-	8	1422	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	RAPH1_ENST00000374489.2_Missense_Mutation_p.E402Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.E427Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.E400Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.E427Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.E400Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.E402Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.E427Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	375					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGCCATCTCAGCTGTTTCT	0.383000													8	148					0	0	0.006214	0	0
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	G	A	rs61748538		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94564460G>A	ENST00000370225.3	-	6	744	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R220C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	220			R -> C (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R220C(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTGCCCCGCGTCTCTGGCTG	0.602000													14	57					0	0	0.028581	0	0
SLC38A10	124565	broad.mit.edu	37	17	79234101	79234101	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79234101C>T	ENST00000374759.3	-	11	1608	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A409T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	409					amino acid transport|sodium ion transport	integral to membrane		p.A409T(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGCCAGGGGCTTCCTCTGCC	0.657000													10	10					0	0	0.008291	0	0
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266182A>T	ENST00000379705.3	-	4	2045	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G	TRPC4_ENST00000379679.1_Silent_p.G223G|TRPC4_ENST00000355779.2_Silent_p.G396G|TRPC4_ENST00000447043.1_Silent_p.G396G|TRPC4_ENST00000379681.3_Silent_p.G396G|TRPC4_ENST00000379673.2_Silent_p.G396G|TRPC4_ENST00000358477.2_Silent_p.G396G|TRPC4_ENST00000426868.2_Silent_p.G396G|TRPC4_ENST00000338947.5_Silent_p.G223G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	396					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.G396G(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGGTGGTGGACCTTGCCTGT	0.433000													18	23					0	0	0.007413	0	0
WDR90	197335	broad.mit.edu	37	16	706405	706405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:706405G>T	ENST00000549091.1	+	18	2162	c.2070G>T	c.(2068-2070)cgG>cgT	p.R690R	WDR90_ENST00000293879.4_Silent_p.R690R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	690										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCTGTCCCGGGTGTACCACA	0.697000													6	19					0.00116845	0.0012386	0.021553	1	0
SCN2A	6326	broad.mit.edu	37	2	166211143	166211143	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211143G>A	ENST00000375437.2	+	17	3651	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1121K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1121K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1121K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1121					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1121K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAATACTGAAGAATTCAGCAG	0.323000													6	31					0	0	0.021553	0	0
KLHL30	377007	broad.mit.edu	37	2	239059471	239059471	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:239059471G>A	ENST00000409223.1	+	8	1609	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	KLHL30_ENST00000305959.4_Missense_Mutation_p.S483N			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	501								p.S501N(2)		lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCACAGCACAGCCTGCATGAG	0.672000													4	3					0	0	0.009096	0	0
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:22248914G>T	ENST00000324559.8	+	7	747	c.430G>T	c.(430-432)Gct>Tct	p.A144S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	144						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.A144S(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTACCTATGCTGAAGTCTT	0.433000													14	36					8.60227e-14	1.1369e-13	0.028581	1	0
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103547C>T	ENST00000408890.4	+	1	199	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	61								p.S61S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACTCAGAGCCATATTCAGT	0.701000													26	54					0	0	0.018920	0	0
CIC	23152	broad.mit.edu	37	19	42791043	42791043	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42791043G>T	ENST00000572681.2	+	3	2983	c.2915G>T	c.(2914-2916)aGc>aTc	p.S972I	CIC_ENST00000575354.2_Missense_Mutation_p.S63I|CIC_ENST00000160740.3_Missense_Mutation_p.S63I|CIC_ENST00000575839.2_3'UTR			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S63I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCTGCCAGCCACCCAGTG	0.667000			"""Mis, F, S"""		oligodendroglioma								15	38					2.31682e-05	2.59035e-05	0.024245	1	0
COL4A6	1288	broad.mit.edu	37	X	107554023	107554023	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107554023C>A	ENST00000334504.7	-	3	332	c.99G>T	c.(97-99)caG>caT	p.Q33H	COL4A6_ENST00000545689.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000538570.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000372216.4_Missense_Mutation_p.Q34H|COL4A6_ENST00000394872.2_Missense_Mutation_p.Q33H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	34	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACTGCAGTCCTGGCCCCCAC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				10	43					6.40141e-05	7.0524e-05	0.010729	1	0
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582654G>T	ENST00000328275.1	+	1	712	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A238S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAAAAGGCCCTGGCCAC	0.572000													15	61					6.81908e-15	9.12187e-15	0.020292	1	0
CNIH3	149111	broad.mit.edu	37	1	224872505	224872505	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224872505G>C	ENST00000272133.3	+	3	1040	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	53					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.R53P(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TAGAGGGAACGGTTGAGGAAC	0.542000													5	76					0	0	0.014758	0	0
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	C	A	rs139579223	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:29786167C>A	ENST00000256062.5	-	6	1190	c.717G>T	c.(715-717)gaG>gaT	p.E239D	TMTC1_ENST00000551659.1_Missense_Mutation_p.E409D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E301D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E409D|TMTC1_ENST00000539277.1_Missense_Mutation_p.E347D|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	347						integral to membrane	binding	p.E239D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCCATATGGTCTCTACCAGAG	0.507000													9	34					1.12685e-05	1.27383e-05	0.004482	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:65676637G>T	ENST00000352385.2	-	20	3672	c.3463C>A	c.(3463-3465)Cct>Act	p.P1155T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1155						integral to membrane|plasma membrane		p.P1155T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCCTCAGGCTCCAGGTCT	0.612000													19	56					8.28177e-16	1.11515e-15	0.007413	1	0
MRPS30	10884	broad.mit.edu	37	5	44811251	44811251	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:44811251G>T	ENST00000507110.1	+	2	780	c.742G>T	c.(742-744)Gca>Tca	p.A248S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	248					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.A248S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CAAGCAACTCGCAGAGGTAAG	0.368000													4	24					0.00024832	0.000269422	0.009096	1	0
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33328826G>A	ENST00000374796.2	-	12	7804	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1745F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S1745F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAAGGAGGGGAAGGAAGCTG	0.542000													18	36					0	0	0.006122	0	0
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113286318A>T	ENST00000233336.5	+	7	1271	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P360P(2)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGTCTTCCCACCCCCAGATG	0.512000			T	ETV6	ALL								29	58					0	0	0.037714	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140501728G>C	ENST00000194152.1	+	1	148	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542000													8	56					0	0	0.003080	0	0
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3328985G>T	ENST00000378398.3	+	10	2309	c.2227G>T	c.(2227-2229)Gac>Tac	p.D743Y	PRDM16_ENST00000511072.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D742Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D742Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	742	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D742Y(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCACGGACCGAGCCCT	0.647000			T	EVI1	"""MDS, AML"""								39	41					2.35968e-33	3.37098e-33	0.023175	1	0
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143995833A>G	ENST00000323110.2	-	5	803	c.799_splice	c.e5-1	p.G267_splice		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	267					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.G267G(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACAGTTGTCACCTGTCCAGG	0.577000									Familial Hyperaldosteronism type I				7	22					0	0	0.003080	0	0
CTDP1	9150	broad.mit.edu	37	18	77473099	77473099	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:77473099G>T	ENST00000299543.7	+	7	1138	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S	CTDP1_ENST00000075430.7_Missense_Mutation_p.A331S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	331	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGATATGAATGCGCCCCCTGG	0.443000													4	17					0.00024832	0.000269422	0.009096	1	0
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:112031646T>G	ENST00000369716.4	-	3	591	c.457_splice	c.e3-1	p.D153_splice	ADORA3_ENST00000369717.4_Splice_Site_p.D72_splice	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	278					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.D72A(2)|p.D153A(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACCATGGCATCTGTGAAAac	0.463000													8	25					0	0	0.003080	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:156482498A>G	ENST00000339252.3	-	2	625	c.93T>C	c.(91-93)tcT>tcC	p.S31S	HAVCR1_ENST00000522693.1_Silent_p.S31S|HAVCR1_ENST00000523175.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S|HAVCR1_ENST00000544197.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	31	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468000													3	15					0	0	0.009096	0	0
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:14766512G>C	ENST00000438167.3	-	4	889	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	150					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	p.L150L(1)									GGGGGTAGAAGAGGTACTTTA	0.478000													31	149					0	0	0.037714	0	0
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248813783G>C	ENST00000344889.3	-	1	402	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135V(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCTCATGAGGACAGGATAG	0.552000													22	15					0	0	0.034045	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264475	61264475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61264475G>A	ENST00000344731.5	+	8	1156	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G300S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	352					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.G352S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACCGGCATAGGCTTTACTGT	0.522000													10	47					0	0	0.006214	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28216601	28216601	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:28216601C>G	ENST00000284984.2	-	1	1127	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	225					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGAGCCCCTTCGTCCTCGCCC	0.652000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0.004672	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367374	3367374	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3367374G>C	ENST00000574298.1	+	6	869	c.396G>C	c.(394-396)aaG>aaC	p.K132N	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K132N(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCCAGTGAAGAAAAGAAAGA	0.383000													5	21					0	0	0.014758	0	0
COL3A1	1281	broad.mit.edu	37	2	189866142	189866142	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:189866142G>T	ENST00000304636.3	+	33	2473	c.2303G>T	c.(2302-2304)gGt>gTt	p.G768V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G768V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	768	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTATTGGTCCTCCTGGC	0.368000													4	61					0.00909568	0.00941159	0.009096	1	0
ZNF607	84775	broad.mit.edu	37	19	38190715	38190715	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38190715C>T	ENST00000355202.4	-	5	912	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF607_ENST00000395835.3_Missense_Mutation_p.R105K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R106K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R106K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTATGAATTCTCTGATGGAG	0.348000													10	42					0	0	0.006214	0	0
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:51261234G>T	ENST00000395542.2	-	3	482	c.298C>A	c.(298-300)Cca>Aca	p.P100T	COBL_ENST00000265136.7_Missense_Mutation_p.P100T|COBL_ENST00000395540.2_Missense_Mutation_p.P100T|COBL_ENST00000441453.1_Missense_Mutation_p.P100T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGGGATGGATTCAGGTGG	0.423000													9	16					7.48243e-07	8.71325e-07	0.006214	1	0
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53045355G>A	ENST00000309680.3	-	1	593	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.S191F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCAATGAAGGAGGCAAATTT	0.483000													12	43					0	0	0.010729	0	0
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50368512G>C	ENST00000322344.3	-	4	479	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	PNKP_ENST00000600573.1_Missense_Mutation_p.L124V|PNKP_ENST00000600910.1_Missense_Mutation_p.L124V|PNKP_ENST00000596014.1_Missense_Mutation_p.L124V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572000								Other BER factors					11	53					0	0	0.010729	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:185801543G>C	ENST00000302277.6	+	4	2014	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474						intracellular	zinc ion binding	p.D474H(2)|p.D474N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAATAATCTAGATAAAAATAA	0.343000													30	25					0	0	0.034045	0	0
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.S118F|ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572000													18	89					0	0	0.007413	0	0
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77765894C>A	ENST00000407578.2	-	28	4256	c.3990G>T	c.(3988-3990)tgG>tgT	p.W1330C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W1292C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.W1292C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.W1292C(4)|p.W1330C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCCACATACCACCACCCAG	0.438000													13	17					2.27111e-07	2.68182e-07	0.013537	1	0
PDHX	8050	broad.mit.edu	37	11	34969155	34969155	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:34969155T>C	ENST00000448838.3	+	3	539		c.e3+2		PDHX_ENST00000430469.2_Splice_Site|PDHX_ENST00000227868.4_Splice_Site	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AAAATCGTGGTAAGTTTTTAT	0.348000													3	59					0	0	0.004672	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94936017C>A	ENST00000337425.5	-	2	289	c.215G>T	c.(214-216)cGc>cTc	p.R72L	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R54L|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	54					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.R72L(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGGTATAGGCGGAAGGCAAA	0.607000													18	50					2.94398e-08	3.57073e-08	0.007413	1	0
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160164856G>C	ENST00000368079.3	+	4	777	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.E174Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	174						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.E168Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCGTTTGAGAATATTGA	0.493000													34	17					0	0	0.015359	0	0
RIN1	9610	broad.mit.edu	37	11	66102012	66102012	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:66102012C>T	ENST00000311320.4	-	6	1384	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	RIN1_ENST00000424433.2_Missense_Mutation_p.E315K|RIN1_ENST00000530056.1_Missense_Mutation_p.E315K|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	420	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.E420K(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCAGCTTCTCAGGGCCCAGC	0.701000													4	6					0	0	0.009096	0	0
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110551679G>A	ENST00000369799.5	+	2	511	c.144G>A	c.(142-144)atG>atA	p.M48I	AHCYL1_ENST00000393614.4_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Start_Codon_SNP_p.M1I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	48					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.M48I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGATGACATGCAGGAGTTCA	0.393000													8	28					0	0	0.003080	0	0
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65417286G>T	ENST00000394224.3	+	12	2992	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	SIPA1_ENST00000394227.3_Missense_Mutation_p.R797M|SIPA1_ENST00000527525.1_Missense_Mutation_p.R797M|SIPA1_ENST00000534313.1_Missense_Mutation_p.R899M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	899					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R899M(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCGGAGCTGAGGGCCTCCTTT	0.627000													29	48					8.58068e-18	1.17084e-17	0.034045	1	0
LTBP1	4052	broad.mit.edu	37	2	33172863	33172863	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:33172863C>T	ENST00000404816.2	+	1	825	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	LTBP1_ENST00000354476.3_Missense_Mutation_p.H158Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	158					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.H158Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGCAGGTTCACCAGAAGCA	0.721000													8	9					0	0	0.003080	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655845	48655845	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48655845G>T	ENST00000352832.5	+	9	2593	c.2221G>T	c.(2221-2223)Gac>Tac	p.D741Y	CACNA1G_ENST00000507510.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D741Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	741					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGATTGTGGACAGCAAGTA	0.597000													11	70					3.86212e-05	4.29458e-05	0.008291	1	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247836167G>T	ENST00000359688.2	-	1	198	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													14	10					1.05317e-09	1.30846e-09	0.020292	1	0
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26545530A>G	ENST00000377575.2	+	2	273	c.96A>G	c.(94-96)ccA>ccG	p.P32P		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding	p.P32P(2)		lung(2)|skin(1)	3						CTGCTAAACCAGCTCCTCCAA	0.502000													21	24					0	0	0.008871	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42335826G>C	ENST00000262418.6	-	10	1197	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	348					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q348E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCTGGACTGATAGCGCCTT	0.637000													24	121					0	0	0.016522	0	0
ATP1A2	477	broad.mit.edu	37	1	160098582	160098582	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160098582C>A	ENST00000361216.3	+	9	1247	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.V386V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	386					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.V386V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGACCGTCGCCCACATGT	0.597000													11	83					0.00010058	0.000109877	0.013537	1	0
NOP14	8602	broad.mit.edu	37	4	2948195	2948195	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:2948195C>T	ENST00000416614.2	-	11	1644	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOP14_ENST00000398071.4_Missense_Mutation_p.E527K|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E527K|NOP14_ENST00000314262.6_Missense_Mutation_p.E527K|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	527					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|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 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTTCCATCTCATGCATCGCA	0.473000													5	66					0	0	0.029380	0	0
XAGE5	170627	broad.mit.edu	37	X	52842250	52842250	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:52842250G>T	ENST00000375503.3	+	2	522	c.159G>T	c.(157-159)caG>caT	p.Q53H	XAGE5_ENST00000351072.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000375501.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000425386.1_Missense_Mutation_p.Q53H			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	53								p.Q53H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AAGATGATCAGGGTGCAGCTG	0.532000													5	19					0.0293803	0.0299671	0.029380	1	0
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58087249C>A	ENST00000196489.3	-	3	347	c.125G>T	c.(124-126)tGg>tTg	p.W42L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W42L(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGCCCCCATTCTTCCTG	0.537000													37	72					9.80977e-26	1.37935e-25	0.019004	1	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													26	77					0	0	0.024334	0	0
BRSK2	9024	broad.mit.edu	37	11	1475797	1475797	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1475797C>T	ENST00000308219.9	+	16	2013	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	BRSK2_ENST00000308230.5_Silent_p.L565L|BRSK2_ENST00000544817.1_Silent_p.L238L|BRSK2_ENST00000526678.1_Silent_p.L565L|BRSK2_ENST00000531197.1_Silent_p.L543L|BRSK2_ENST00000382179.1_Silent_p.L589L|BRSK2_ENST00000528710.1_Silent_p.L483L|BRSK2_ENST00000528841.1_Silent_p.L543L	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	543					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGACAAACCTCTGAGCTCCAT	0.622000													9	45					0	0	0.008291	0	0
RGS9	8787	broad.mit.edu	37	17	63189700	63189700	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:63189700C>T	ENST00000449996.3	+	12	849	c.777C>T	c.(775-777)gcC>gcT	p.A259A	RGS9_ENST00000443584.3_Silent_p.A259A|RGS9_ENST00000262406.9_Silent_p.A262A	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	262	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.A262A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAACGATGCCATCATGTCAG	0.423000													3	25					0	0	0.004672	0	0
ADAM10	102	broad.mit.edu	37	15	58957351	58957351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:58957351G>C	ENST00000260408.3	-	5	973	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	177					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.S177*(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCAAATACTGAATGATCTGC	0.368000													6	36					0	0	0.021553	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357156	37357156	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37357156G>T	ENST00000217420.1	+	2	1715	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	484					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.K484N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCTGGCGCAAGCTGCTGTGGC	0.652000													25	42					4.72057e-08	5.70137e-08	0.021523	1	0
DSEL	92126	broad.mit.edu	37	18	65180123	65180123	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:65180123G>A	ENST00000310045.7	-	2	3226	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	575						integral to membrane	isomerase activity|sulfotransferase activity	p.L585F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAATTTAAGAGAAGCAAAGCA	0.403000													4	36					0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:34033349G>C	ENST00000373381.4	-	53	8400	c.8224C>G	c.(8224-8226)Cct>Gct	p.P2742A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537000													3	16					0	0	0.004672	0	0
BUB1	699	broad.mit.edu	37	2	111425235	111425235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111425235G>C	ENST00000535254.1	-	7	675	c.608C>G	c.(607-609)tCa>tGa	p.S203*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.S223*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.S223*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	223					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.S223*(1)|p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCCAAAGATGAGTGCACAGA	0.378000													7	45					0	0	0.029380	0	0
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:117228579G>A	ENST00000362057.3	-	3	1099	c.931C>T	c.(931-933)Cca>Tca	p.P311S	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	311	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.P311S(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGCCTGGGTCCACGCCA	0.602000													34	50					0	0	0.015359	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324415	52324415	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52324415C>G	ENST00000354773.4	+	2	153	c.57C>G	c.(55-57)ctC>ctG	p.L19L	GLYCTK_ENST00000477382.1_Silent_p.L19L|GLYCTK_ENST00000473032.1_Silent_p.L19L|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.L19L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Silent_p.L19L	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	19					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.L19L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCATCCACTCCTCTGGCGGG	0.682000													9	29					0	0	0.006214	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22843099G>C	ENST00000360412.2	-	4	1400	c.625C>G	c.(625-627)Cat>Gat	p.H209D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.H209D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H209D(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTCATTGTATGAAAGGTATCT	0.393000													17	80					0	0	0.006122	0	0
COL3A1	1281	broad.mit.edu	37	2	189839268	189839268	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:189839268C>A	ENST00000304636.3	+	1	223	c.53C>A	c.(52-54)cCc>cAc	p.P18H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P18H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	18					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P18H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTTCATCCCACTATTATT	0.408000													6	36					0.00198382	0.00209054	0.029380	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77768223C>T	ENST00000521891.2	+	10	9514	c.9066C>T	c.(9064-9066)atC>atT	p.I3022I	ZFHX4_ENST00000455469.2_Silent_p.I2977I|ZFHX4_ENST00000518282.1_Silent_p.I2996I|ZFHX4_ENST00000050961.6_Silent_p.I2977I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2977						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I3006I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGTCCATCAGAGATCACA	0.507000										HNSCC(33;0.089)			11	23					0	0	0.010729	0	0
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:52869406C>T	ENST00000343457.3	-	2	655	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217						integral to membrane		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTGAGGTCCTTGAAGGCT	0.343000													16	17					0	0	0.024245	0	0
CFLAR	8837	broad.mit.edu	37	2	201994633	201994633	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:201994633A>C	ENST00000395148.2	+	2	257	c.45A>C	c.(43-45)acA>acC	p.T15T	CFLAR_ENST00000355558.4_Silent_p.T15T|CFLAR_ENST00000309955.2_Silent_p.T15T|CFLAR_ENST00000341222.6_Silent_p.T15T|CFLAR_ENST00000341582.6_Silent_p.T15T|CFLAR_ENST00000340870.5_Silent_p.T15T|CFLAR_ENST00000457277.1_Silent_p.T15T|CFLAR_ENST00000440180.1_Silent_p.T15T|CFLAR_ENST00000423241.2_Silent_p.T15T|CFLAR_ENST00000342795.5_Silent_p.T15T|CFLAR_ENST00000443227.1_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	15	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.T15T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CACTTGATACAGATGAGAAGG	0.478000													14	179					0	0	0.020292	0	0
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150935522C>G	ENST00000271640.5	+	19	3554	c.3364C>G	c.(3364-3366)Cag>Gag	p.Q1122E	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1122E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1122	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q1122E(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTGCTGGTCAGACTTCGGC	0.532000													23	31					0	0	0.012319	0	0
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69640530A>G	ENST00000370598.1	+	4	1658	c.837A>G	c.(835-837)caA>caG	p.Q279Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q279Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAGGAACAAGCTGATGCTG	0.333000													3	8					0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105419147G>T	ENST00000333244.5	-	7	2760	c.2641C>A	c.(2641-2643)Ctc>Atc	p.L881I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus		p.L881I(2)		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)			TGAATGCTGAGGTCAGTGGCC	0.652000													62	231					6.20203e-27	8.75509e-27	0.014410	1	0
TRBV20-1	28567	broad.mit.edu	37	7	142334739	142334739	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142334739C>T	ENST00000390394.3	+	0	239																											CGTCAGTTCCCGAAACAGAGT	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	28					0	0	0.010818	0	0
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18316688C>T	ENST00000396253.3	-	13	1783	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HPS5_ENST00000438420.2_Missense_Mutation_p.E441K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E555K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	555						cytosol		p.E555K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAATCTTCTCAGTAGTTTTA	0.398000									Hermansky-Pudlak syndrome				10	35					0	0	0.006214	0	0
PKD1	5310	broad.mit.edu	37	16	2159684	2159684	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:2159684C>A	ENST00000262304.4	-	15	5692	c.5484G>T	c.(5482-5484)caG>caT	p.Q1828H	PKD1_ENST00000423118.1_Missense_Mutation_p.Q1828H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1828	PKD 14.				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						CCGTGGCCAGCTGCCCCCAAA	0.672000													3	8					6.4e-05	7.0524e-05	0.004672	1	0
KAT6A	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:41834584C>T	ENST00000396930.3	-	8	1848	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KAT6A_ENST00000265713.2_Silent_p.E435E|KAT6A_ENST00000406337.1_Silent_p.E435E|KAT6A_ENST00000485568.1_Silent_p.E435E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	435	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.E435E(2)									TTCGATATTGCTCAGAGTAGT	0.448000													19	31					0	0	0.006122	0	0
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:113719264C>T	ENST00000397030.1	+	7	757	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000375608.3_Silent_p.F237F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000442652.2_Silent_p.F237F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577000													26	45					0	0	0.027356	0	0
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:26917884C>G	ENST00000539517.2	-	5	1122	c.805G>C	c.(805-807)Gga>Cga	p.G269R	NOVA1_ENST00000267422.7_Missense_Mutation_p.G147R|NOVA1_ENST00000465357.2_Missense_Mutation_p.G245R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G269R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAAGGAGATCCGGTTGGATTG	0.483000													13	60					0	0	0.020292	0	0
FCRL5	83416	broad.mit.edu	37	1	157491004	157491004	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157491004C>T	ENST00000361835.3	-	11	2475	c.2318G>A	c.(2317-2319)tGt>tAt	p.C773Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.C773Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	773	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.C773Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGGCCTCACAGTGAAGCTC	0.582000													10	76					0	0	0.006214	0	0
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249144947C>A	ENST00000451251.1	-	11	1547	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	ZNF692_ENST00000366469.5_Missense_Mutation_p.R395L|ZNF692_ENST00000366471.3_Missense_Mutation_p.R351L|ZNF692_ENST00000306601.4_Missense_Mutation_p.R396L|ZNF692_ENST00000427146.1_Missense_Mutation_p.R351L	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	396				S -> G (in Ref. 1; BAA91239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R396L(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGAAAGACCGGGCGCAGAA	0.622000													15	56					2.31682e-05	2.59035e-05	0.024245	1	0
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72734212C>T	ENST00000333149.2	-	3	629	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TRIM50_ENST00000453152.1_Silent_p.L143L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	143						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	p.L143L(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTCCTGCTTCAGCTCAGAGA	0.597000													27	112					0	0	0.030593	0	0
DUSP22	56940	broad.mit.edu	37	6	348851	348851	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:348851A>T	ENST00000604971.1	+	4	1322	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.K173M|DUSP22_ENST00000605315.1_Missense_Mutation_p.K70M|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.K70M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTAAATATAAGGAGCAAGGG	0.537000													5	53					0	0	0.014758	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:96706570C>G	ENST00000389672.5	+	3	885	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	EPHA6_ENST00000542517.1_Missense_Mutation_p.Q189E|EPHA6_ENST00000470610.2_Missense_Mutation_p.Q283E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000													79	81					0	0	0.014410	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:32103262C>A	ENST00000375250.5	-	12	1910	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E587*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E582*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E587*(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTATCTCCTCTTCAATTCCT	0.363000													27	60					7.01153e-11	8.91244e-11	0.034045	1	0
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:103870845C>A	ENST00000361198.5	-	4	745	c.122G>T	c.(121-123)cGg>cTg	p.R41L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000425280.1_Missense_Mutation_p.R77L	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R77L(2)|p.R41L(2)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTCTGAAGCCGTTTGTTAAG	0.532000													10	38					1.76689e-08	2.14669e-08	0.006214	1	0
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30918542G>T	ENST00000375318.2	-	1	149	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31G(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GATTCCTGGTGCCTGCCGCAG	0.517000													11	31					3.86212e-05	4.29458e-05	0.008291	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858701	149858701	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149858701G>C	ENST00000331380.2	+	1	177	c.177G>C	c.(175-177)ctG>ctC	p.L59L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	59					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGAGTACCTGACCGCCGAGA	0.687000													9	139					0	0	0.006214	0	0
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14563219G>C	ENST00000181796.2	-	5	1124	c.891C>G	c.(889-891)ggC>ggG	p.G297G	FAM107B_ENST00000468747.1_Silent_p.G122G|FAM107B_ENST00000378462.1_Silent_p.G122G|FAM107B_ENST00000378465.3_Silent_p.G122G|FAM107B_ENST00000378458.2_Silent_p.G122G|FAM107B_ENST00000378470.1_Silent_p.G122G|FAM107B_ENST00000478076.1_Silent_p.G122G|FAM107B_ENST00000496330.1_Silent_p.G122G|FAM107B_ENST00000378467.4_Silent_p.G122G|FAM107B_ENST00000479731.1_Silent_p.G122G	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	122								p.G297G(2)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGACTTCTTGGCCTGTTCTCC	0.517000													44	75					0	0	0.011902	0	0
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358000													7	81					0	0	0.006214	0	0
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:108307757C>T	ENST00000370056.4	-	9	1136	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	VAV3_ENST00000527011.1_Missense_Mutation_p.A288T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A223T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	288	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A288T(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTAGAGATGGCTGACTCCACT	0.358000													6	17					0	0	0.029380	0	0
SIRT1	23411	broad.mit.edu	37	10	69651262	69651262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:69651262G>C	ENST00000212015.6	+	4	945	c.892G>C	c.(892-894)Gat>Cat	p.D298H	SIRT1_ENST00000406900.1_5'UTR|SIRT1_ENST00000432464.1_Missense_Mutation_p.D3H	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	298	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	p.D298H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCGATGTTTGATATTGAATA	0.403000													22	128					0	0	0.014323	0	0
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51392312G>A	ENST00000266037.9	+	41	4130		c.e41-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.?(4)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTTGTGGCAGAACAAAGAAT	0.527000													24	84					0	0	0.021523	0	0
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:244716037G>A	ENST00000366534.4	+	9	1004	c.950G>A	c.(949-951)gGa>gAa	p.G317E	C1orf101_ENST00000366533.4_Missense_Mutation_p.G317E|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.G166E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	317						integral to membrane		p.G317E(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATAAGACTGGGAGGAATTGTA	0.343000													42	35					0	0	0.010771	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152059275T>C	ENST00000368806.1	-	3	947	c.883A>G	c.(883-885)Aga>Gga	p.R295G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding	p.R295G(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCTTCTCTTTGTAGGGGT	0.443000													158	160					0	0	0.014410	0	0
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55993190C>T	ENST00000598519.1	+	3	1183	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF628_ENST00000391718.2_Silent_p.P206P	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	206						nucleus	DNA binding|zinc ion binding	p.P206P(4)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGCTCTGCCCCAAGACCTTCA	0.741000													4	7					0	0	0.009096	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:52017224A>G	ENST00000267838.3	-	2	882	c.368T>C	c.(367-369)tTg>tCg	p.L123S	LYSMD2_ENST00000454181.2_Missense_Mutation_p.L32S|LYSMD2_ENST00000560491.1_Missense_Mutation_p.L32S|LYSMD2_ENST00000558126.1_Intron	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	123					cell wall macromolecule catabolic process			p.L123S(2)		lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		ATTAAACAACAAAGGCTTCTC	0.383000													10	26					0	0	0.006214	0	0
ERCC6	2074	broad.mit.edu	37	10	50679084	50679084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:50679084C>G	ENST00000355832.5	-	17	3085	c.3007G>C	c.(3007-3009)Gag>Cag	p.E1003Q	ERCC6_ENST00000542458.1_Missense_Mutation_p.E373Q|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1003					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.E1003Q(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTAAATAGCTCATAGAGATCA	0.313000								Direct reversal of damage;Nucleotide excision repair (NER)					11	67					0	0	0.010729	0	0
VPS13B	157680	broad.mit.edu	37	8	100514053	100514053	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:100514053C>T	ENST00000395996.1	+	26	4120	c.4009C>T	c.(4009-4011)Ctc>Ttc	p.L1337F	VPS13B_ENST00000358544.2_Missense_Mutation_p.L1337F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1337F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1337					protein transport			p.L1337F(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTATAAAGCTCTTTGCTCC	0.473000													10	84					0	0	0.006214	0	0
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:21760782T>C	ENST00000382254.1	-	13	2604	c.1518A>G	c.(1516-1518)atA>atG	p.I506M	CDH12_ENST00000522262.1_Missense_Mutation_p.I466M|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.I506M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I506M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTATCTGAATTATCTGCAACA	0.403000										HNSCC(59;0.17)			14	32					0	0	0.016723	0	0
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:89131063T>A	ENST00000286614.6	-	5	1018	c.737A>T	c.(736-738)cAt>cTt	p.H246L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	246					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H246L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCCAGTTCATGGACTGCTAC	0.383000													8	15					0	0	0.003080	0	0
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:4116637G>C	ENST00000404826.2	+	21	3157	c.3018G>C	c.(3016-3018)caG>caC	p.Q1006H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1006H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1006	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGCTATCAGATCTCTTGGG	0.542000													9	30					0	0	0.004482	0	0
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198953721C>T	ENST00000428675.1	+	3	3253	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P854L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	952					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P854L(2)|p.P952L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAGCTTTCCTTACCTGGAG	0.453000													55	69					0	0	0.014410	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000													11	64					0	0	0.008291	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46032130G>T	ENST00000334662.2	+	1	135	c.113G>T	c.(112-114)gGc>gTc	p.G38V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.G38V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTGCACTGGCTCCTCCTGG	0.637000													22	53					3.62473e-10	4.52696e-10	0.012319	1	0
SLC9C2	284525	broad.mit.edu	37	1	173567171	173567171	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173567171C>A	ENST00000367714.3	-	4	651	c.228_splice	c.e4-1	p.V77_splice	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	77					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V77L(1)									ATTTGGTGCACCTAAAGTAAC	0.299000													4	16					0.00024832	0.000269422	0.009096	1	0
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:21698923A>T	ENST00000388958.3	+	7	590	c.589A>T	c.(589-591)Aca>Tca	p.T197S	OTOA_ENST00000286149.4_Missense_Mutation_p.T197S|OTOA_ENST00000388956.4_Missense_Mutation_p.T118S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	197					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.T197S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGACATCACAGAGCGGCT	0.527000													10	42					0	0	0.008291	0	0
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11485703T>A	ENST00000423059.3	-	13	3300	c.3049A>T	c.(3049-3051)Aga>Tga	p.R1017*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10.					integral to membrane		p.R1017*(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTTACATCTAGATGTTTCC	0.428000										HNSCC(18;0.044)			27	68					0	0	0.030593	0	0
YPEL2	388403	broad.mit.edu	37	17	57430790	57430790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57430790C>G	ENST00000312655.4	+	2	338	c.20C>G	c.(19-21)tCg>tGg	p.S7W	YPEL2_ENST00000581865.1_Intron|YPEL2_ENST00000585166.1_Missense_Mutation_p.S7W	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	7						nucleolus		p.S7W(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGACAAGATCGAAGACTTTC	0.547000													10	61					0	0	0.006214	0	0
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:14131775A>T	ENST00000379153.3	+	3	349	c.178A>T	c.(178-180)Atg>Ttg	p.M60L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	60	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane		p.M60L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGAAGAGAGGATGGAGACACC	0.507000													21	20					0	0	0.010504	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:39086866C>A	ENST00000400482.3	-	3	1183	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.K198N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	198					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.K198N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCTGCCCTCTTCTTGGGTT	0.483000													18	47					2.35188e-11	3.01361e-11	0.006122	1	0
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125315507G>C	ENST00000373688.2	+	1	117	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AAACCAGGCAGAGTGAACCAA	0.448000													11	45					0	0	0.010729	0	0
LTN1	26046	broad.mit.edu	37	21	30304987	30304987	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:30304987C>A	ENST00000361371.4	-	28	5026		c.e28-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGCTTTAACCTGCAATACAA	0.343000													10	59					2.17888e-05	2.44185e-05	0.006214	1	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)			16	83					0	0	0.024245	0	0
EVPLL	645027	broad.mit.edu	37	17	18284947	18284947	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:18284947G>A	ENST00000399134.4	+	4	607	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	83								p.Q83Q(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGTGACCCAGGAGTGTGCGG	0.657000													14	27					0	0	0.028581	0	0
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:75902715C>A	ENST00000322563.3	-	4	907	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	261					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.K261N(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TATCCAGGTCCTTGGGCACCA	0.597000													32	127					4.31634e-10	5.386e-10	0.012213	1	0
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:31016158C>A	ENST00000375687.4	+	6	828	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	ASXL1_ENST00000306058.5_Missense_Mutation_p.S130Y|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	135					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S135Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGAACGCATCCTGTTCTACA	0.493000			"""F, N, Mis"""		"""MDS, CMML"""								27	114					7.41945e-09	9.1228e-09	0.027356	1	0
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3685153G>T	ENST00000403096.3	+	3	646	c.155G>T	c.(154-156)aGt>aTt	p.S52I	COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000349077.4_Missense_Mutation_p.S78I|COLEC11_ENST00000236693.7_Missense_Mutation_p.S75I|COLEC11_ENST00000418971.2_Missense_Mutation_p.S92I|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402794.1_Missense_Mutation_p.S28I|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	78						collagen	mannose binding	p.S92I(2)|p.S75I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGAAAGGCAGTGTGGGTCGT	0.512000													20	24					1.96292e-10	2.46442e-10	0.010504	1	0
ZNF165	7718	broad.mit.edu	37	6	28056879	28056879	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28056879G>A	ENST00000377325.1	+	4	1645	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	363					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q363Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGGCATCAGAGAATCCACA	0.433000													5	21					0	0	0.021553	0	0
ADNP2	22850	broad.mit.edu	37	18	77894747	77894747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:77894747C>G	ENST00000262198.4	+	4	1906	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	484					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S484*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGGTCCAGTCAGGAGTTCTC	0.607000													13	81					0	0	0.013537	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92715222C>A	ENST00000257068.2	+	2	839	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCCATCAACCCCCAAGAAATG	0.512000													56	139					2.43277e-16	3.29438e-16	0.014410	1	0
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155215184T>A	ENST00000460012.1	-	15	2086	c.1729A>T	c.(1729-1731)Atg>Ttg	p.M577L	PLCH1_ENST00000494598.1_Missense_Mutation_p.M595L|PLCH1_ENST00000414191.1_Missense_Mutation_p.M577L|PLCH1_ENST00000334686.6_Missense_Mutation_p.M577L|PLCH1_ENST00000340059.7_Missense_Mutation_p.M595L|PLCH1_ENST00000447496.2_Missense_Mutation_p.M595L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M595L(2)|p.M577L(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGCTTCATGGTTTTCCTT	0.473000													14	53					0	0	0.020292	0	0
NYAP2	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:226273676G>C	ENST00000272907.6	+	2	493	c.80G>C	c.(79-81)gGg>gCg	p.G27A	NYAP2_ENST00000409269.2_Missense_Mutation_p.G27A	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	27								p.G27A(2)									GAGGATATGGGGATGAAGGCC	0.428000													13	18					0	0	0.020292	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52719320G>T	ENST00000322088.6	+	8	1044	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C274F|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.C150F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	329	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.C329F(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATCTTGCCCTGCATCAAGGTA	0.532000			Mis		clear cell ovarian carcinoma								10	33					0.000673444	0.000721367	0.008291	1	0
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:127651448C>A	ENST00000373555.4	-	18	2068	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	579						Golgi cisterna membrane		p.E579*(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGAGTGCTTCGGCCTGCAAT	0.657000													26	31					8.24728e-16	1.11261e-15	0.024334	1	0
NELFCD	51497	broad.mit.edu	37	20	57569177	57569177	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57569177A>G	ENST00000602795.1	+	14	1696	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	NELFCD_ENST00000344018.3_Missense_Mutation_p.I541V|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D									p.I541V(1)									GCTGGACGTCATTGCTCCTCC	0.557000													15	72					0	0	0.024245	0	0
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428000													11	34					2.27111e-07	2.68182e-07	0.013537	1	0
SYT4	6860	broad.mit.edu	37	18	40851705	40851705	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:40851705C>A	ENST00000255224.3	-	3	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L296L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.L314L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATTTAGGCAGATGTCGAG	0.428000													5	23					0.00116845	0.0012386	0.021553	1	0
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62519745G>A	ENST00000394807.3	-	2	1667	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D514D(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGCGGTAGAGGTCCCCTGACT	0.602000													34	58					0	0	0.013726	0	0
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50945490C>A	ENST00000357701.5	+	9	873	c.822C>A	c.(820-822)atC>atA	p.I274I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I274I(2)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAACAAGATCAAGTTGATGG	0.522000													5	7					4.096e-09	5.06247e-09	0.021553	1	0
FAM71A	149647	broad.mit.edu	37	1	212798989	212798989	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:212798989C>T	ENST00000294829.3	+	1	1201	c.770C>T	c.(769-771)gCa>gTa	p.A257V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	257								p.A257V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCTCAATGCATCCATCCCC	0.552000													15	154					0	0	0.033300	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051794	198051794	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198051794C>G	ENST00000282272.8	-	1	39	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E22Q	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	22							protein binding	p.E22Q(4)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGATCTCCTCTGGATCACCG	0.443000													31	120					0	0	0.037714	0	0
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124398361G>A	ENST00000360013.3	+	51	7501	c.7374G>A	c.(7372-7374)atG>atA	p.M2458I	KALRN_ENST00000428018.2_Missense_Mutation_p.M729I|KALRN_ENST00000462213.1_Missense_Mutation_p.M75I|KALRN_ENST00000291478.4_Missense_Mutation_p.M761I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2457				E -> G (in Ref. 2; BAA76314).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M761I(1)|p.M2458I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACTAGCATGGAGGTAGAAG	0.428000													11	51					0	0	0.008291	0	0
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:21036154G>A	ENST00000247986.2	-	4	958	c.648C>T	c.(646-648)atC>atT	p.I216I	KIF17_ENST00000400463.3_Silent_p.I216I|KIF17_ENST00000375044.1_Silent_p.I116I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	216	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I216I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCGATGCTGATGGTGAAGA	0.597000													15	66					0	0	0.020292	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:108609503G>A	ENST00000264047.2	+	4	644	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G123E|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G18E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	123					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G123E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAATCTATGGAAAACGCATG	0.448000													14	53					0	0	0.020292	0	0
KRT8	3856	broad.mit.edu	37	12	53291304	53291304	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53291304G>C	ENST00000552551.1	-	9	1792	c.1360C>G	c.(1360-1362)Cgc>Ggc	p.R454G	KRT8_ENST00000293308.6_Missense_Mutation_p.R454G|KRT8_ENST00000546897.1_Missense_Mutation_p.R454G|KRT8_ENST00000552150.1_Missense_Mutation_p.R482G			P05787	K2C8_HUMAN	keratin 8	454	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCTGGTGCGGCTGAAggag	0.637000													9	78					0	0	0.004482	0	0
PLCL2	23228	broad.mit.edu	37	3	17053070	17053070	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:17053070A>T	ENST00000418129.2	+	2	2319	c.1854A>T	c.(1852-1854)acA>acT	p.T618T	PLCL2_ENST00000432376.1_Silent_p.T618T|PLCL2_ENST00000396755.2_Silent_p.T618T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	744	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T618T(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCGCCAATACAAAAGACTCTG	0.507000													5	24					0	0	0.014758	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33947350C>T	ENST00000382102.3	-	6	1343	c.1286G>A	c.(1285-1287)aGc>aAc	p.S429N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.S370N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S429N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	429					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.S429N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCAAACAGGCTGCACAGGAC	0.507000													24	100					0	0	0.018920	0	0
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:57346020T>A	ENST00000398138.3	-	4	1603	c.747A>T	c.(745-747)tcA>tcT	p.S249S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	249					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.S249S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTTGTTCAGCTGATTTCTTAT	0.468000													12	23					0	0	0.010729	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30784777C>G	ENST00000246229.4	-	3	1233	c.969G>C	c.(967-969)atG>atC	p.M323I		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M323I(2)		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)			GAGGGTAGCTCATACCCATGG	0.567000													39	148					0	0	0.023175	0	0
RIN2	54453	broad.mit.edu	37	20	19955398	19955398	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:19955398C>G	ENST00000255006.6	+	8	1025	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	243					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.L292L(1)|p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCGTCAGCTCTGCCTTATAA	0.552000													7	74					0	0	0.029380	0	0
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:33734940G>T	ENST00000358232.6	+	12	1316	c.1253G>T	c.(1252-1254)tGg>tTg	p.W418L	ELP2_ENST00000423854.2_Missense_Mutation_p.W348L|ELP2_ENST00000351393.6_Missense_Mutation_p.W392L|ELP2_ENST00000542824.1_Missense_Mutation_p.W348L|ELP2_ENST00000442325.2_Missense_Mutation_p.W483L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.W413L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	418					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.W418L(2)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTGCTCCATGGAAGAGAAAA	0.398000													13	21					1.5842e-08	1.9379e-08	0.016723	1	0
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124431933C>T	ENST00000360013.3	+	58	8354	c.8227C>T	c.(8227-8229)Ctc>Ttc	p.L2743F	KALRN_ENST00000428018.2_Missense_Mutation_p.L1014F|KALRN_ENST00000291478.4_Missense_Mutation_p.L1046F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2742	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2743F(2)|p.L1046F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACATCACTCTCCATGACAC	0.488000													8	29					0	0	0.003080	0	0
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42621437C>A	ENST00000389341.5	-	5	334	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	POU2F2_ENST00000342301.4_Missense_Mutation_p.A90S|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000533720.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529067.1_Missense_Mutation_p.A90S|POU2F2_ENST00000560398.1_Missense_Mutation_p.A112S|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.A90S|POU2F2_ENST00000529952.1_Missense_Mutation_p.A90S	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	90					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A90S(4)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				ATGAGTTGGGCCTGGGGCAGA	0.642000													30	94					7.01153e-11	8.91244e-11	0.034045	1	0
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184801039G>C	ENST00000335012.2	-	2	699	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	170								p.S170*(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GCTCTCTTTTGAAATTAAGGC	0.463000													23	51					0	0	0.018920	0	0
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53451395T>C	ENST00000314250.6	+	12	1180	c.890T>C	c.(889-891)aTg>aCg	p.M297T	TENC1_ENST00000549700.1_Missense_Mutation_p.M297T|TENC1_ENST00000451358.1_Missense_Mutation_p.M297T|TENC1_ENST00000546602.1_Missense_Mutation_p.M297T|TENC1_ENST00000552570.1_Missense_Mutation_p.M297T|TENC1_ENST00000379902.3_Missense_Mutation_p.M173T|TENC1_ENST00000314276.3_Missense_Mutation_p.M307T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	297					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.M307T(2)|p.M297T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCATCAGAATGAACAGCAGC	0.537000													213	183					0	0	0.014410	0	0
ADAM12	8038	broad.mit.edu	37	10	127782626	127782626	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:127782626T>A	ENST00000368679.4	-	11	1391	c.1082A>T	c.(1081-1083)gAc>gTc	p.D361V	ADAM12_ENST00000368676.4_Missense_Mutation_p.D361V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	361	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.D361V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCAGTGTGTCATGATTCAT	0.517000													13	68					0	0	0.013537	0	0
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:69456155A>C	ENST00000227507.2	+	1	301	c.74A>C	c.(73-75)gAc>gCc	p.D25A	CCND1_ENST00000536559.1_Missense_Mutation_p.D25A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	25					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.D25A(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTCCTCAACGACCGGGTGCTG	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			30	116					0	0	0.037714	0	0
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537160C>A	ENST00000394434.2	-	10	1037	c.871G>T	c.(871-873)Gct>Tct	p.A291S	LARS_ENST00000510191.1_Missense_Mutation_p.A237S|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.A245S|LARS_ENST00000274562.9_Missense_Mutation_p.A264S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.A291S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGAGTAGCAGCCACCAAGAAA	0.373000													6	21					3.59834e-05	4.01374e-05	0.021553	1	0
NBEA	26960	broad.mit.edu	37	13	35624523	35624523	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:35624523A>T	ENST00000540320.1	+	6	1497	c.963A>T	c.(961-963)caA>caT	p.Q321H	NBEA_ENST00000310336.4_Missense_Mutation_p.Q321H|NBEA_ENST00000379939.2_Missense_Mutation_p.Q321H|NBEA_ENST00000400445.3_Missense_Mutation_p.Q321H			Q8NFP9	NBEA_HUMAN	neurobeachin	321						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q321H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGATTTTCAACCACGCAAGG	0.353000													3	5					0	0	0.004672	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014929C>G	ENST00000379727.3	-	2	708	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CYP1A1_ENST00000395048.2_Silent_p.L170L|CYP1A1_ENST00000567032.1_Silent_p.L170L|CYP1A1_ENST00000395049.4_Silent_p.L170L|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	170					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.L170L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGTGCTTATCAGGACCTCAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				24	83					0	0	0.016522	0	0
FBN1	2200	broad.mit.edu	37	15	48712914	48712914	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48712914G>A	ENST00000316623.5	-	63	8244	c.7789C>T	c.(7789-7791)Ctc>Ttc	p.L2597F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2597	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.L2597F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTGCTGGAGGTAGCCCTGG	0.527000													5	50					0	0	0.014758	0	0
RPRD1B	58490	broad.mit.edu	37	20	36694555	36694555	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36694555G>T	ENST00000373433.4	+	6	1130	c.728G>T	c.(727-729)cGc>cTc	p.R243L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	243								p.R243L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATAACGGGCGCCTGGCAGCA	0.448000													16	95					1.5739e-10	1.98998e-10	0.028581	1	0
EIF5B	9669	broad.mit.edu	37	2	99985017	99985017	+	Missense_Mutation	SNP	G	G	C	rs3205291		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:99985017G>C	ENST00000289371.5	+	7	1552	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	450					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		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						AAGATAAAAAGAGGAAAAAAA	0.353000													6	30					0	0	0.029380	0	0
TBCE	6905	broad.mit.edu	37	1	235612020	235612020	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:235612020A>C	ENST00000543662.1	+	18	1786	c.1680A>C	c.(1678-1680)ctA>ctC	p.L560L	TBCE_ENST00000366601.3_Silent_p.L509L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L509L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	509					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.L509L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATGACCTAAAGTCATTAC	0.393000													8	49					0	0	0.004482	0	0
PPM1L	151742	broad.mit.edu	37	3	160474243	160474243	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:160474243G>C	ENST00000498165.1	+	1	248	c.147G>C	c.(145-147)gtG>gtC	p.V49V	PPM1L_ENST00000497343.1_Silent_p.V49V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	49					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGACCATCGTGAAGTCCAGCC	0.562000													18	104					0	0	0.033300	0	0
TRPC4	7223	broad.mit.edu	37	13	38266380	38266380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266380C>A	ENST00000379705.3	-	4	1847	c.990G>T	c.(988-990)atG>atT	p.M330I	TRPC4_ENST00000379679.1_Missense_Mutation_p.M157I|TRPC4_ENST00000355779.2_Missense_Mutation_p.M330I|TRPC4_ENST00000447043.1_Missense_Mutation_p.M330I|TRPC4_ENST00000379681.3_Missense_Mutation_p.M330I|TRPC4_ENST00000379673.2_Missense_Mutation_p.M330I|TRPC4_ENST00000358477.2_Missense_Mutation_p.M330I|TRPC4_ENST00000426868.2_Missense_Mutation_p.M330I|TRPC4_ENST00000338947.5_Missense_Mutation_p.M157I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	330					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.M330I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACATGTCACCATCTTCACTG	0.478000													4	28					0.00909568	0.00941159	0.009096	1	0
FPR2	2358	broad.mit.edu	37	19	52272003	52272003	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272003T>A	ENST00000598776.1	+	2	864	c.92T>A	c.(91-93)gTg>gAg	p.V31E	FPR2_ENST00000340023.6_Missense_Mutation_p.V31E|FPR2_ENST00000598953.1_Missense_Mutation_p.V31E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	31					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V31E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCATTGGTGGTGCTTGGG	0.537000													13	75					0	0	0.016723	0	0
TENM1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:123556156G>A	ENST00000422452.2	-	24	4500	c.4437C>T	c.(4435-4437)gaC>gaT	p.D1479D	TENM1_ENST00000371130.3_Silent_p.D1472D|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1474D(2)									CAATTTTGCAGTCACAGTCAG	0.448000													16	40					0	0	0.024245	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219942919C>T	ENST00000356853.5	-	6	731	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NHEJ1_ENST00000409720.1_Missense_Mutation_p.E200K|NHEJ1_ENST00000483627.1_5'UTR	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	p.E200K(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTGCATGCCTCTGGCAGTTTC	0.478000								Non-homologous end-joining					21	39					0	0	0.012319	0	0
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:33292344C>G	ENST00000373475.5	+	3	898	c.644C>G	c.(643-645)tCa>tGa	p.S215*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.S215*|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.S215*|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	215						nucleus	calcium-dependent protein binding	p.S215*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCTCTTCTTCAAACAATAAC	0.443000													12	31					0	0	0.013537	0	0
COL4A6	1288	broad.mit.edu	37	X	107554022	107554022	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107554022C>A	ENST00000334504.7	-	3	333	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	COL4A6_ENST00000545689.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000372216.4_Missense_Mutation_p.D35Y|COL4A6_ENST00000394872.2_Missense_Mutation_p.D34Y	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	35	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCACTGCAGTCCTGGCCCCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				10	42					6.40141e-05	7.0524e-05	0.010729	1	0
PLCB1	23236	broad.mit.edu	37	20	8745806	8745806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:8745806G>A	ENST00000378641.3	+	26	3206	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PLCB1_ENST00000338037.6_Missense_Mutation_p.E911K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E911K|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	911					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E911K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGACCATCGAAGAACTAAA	0.418000													6	25					0	0	0.029380	0	0
LRRC31	79782	broad.mit.edu	37	3	169579498	169579498	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:169579498C>G	ENST00000316428.5	-	2	336	c.279G>C	c.(277-279)ttG>ttC	p.L93F	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L93F|LRRC31_ENST00000523069.1_Missense_Mutation_p.L93F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	93								p.L93F(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTATTCAAATCTAGAC	0.428000													33	272					0	0	0.013726	0	0
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76343962T>A	ENST00000263187.3	+	11	1603	c.1499T>A	c.(1498-1500)aTa>aAa	p.I500K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	500					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I500K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTCTTGACATAGCAAGAAGA	0.348000								Mismatch excision repair (MMR)					9	14					0	0	0.006214	0	0
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:179077723C>G	ENST00000502732.1	-	12	2882	c.2679G>C	c.(2677-2679)aaG>aaC	p.K893N	ABL2_ENST00000367623.4_Missense_Mutation_p.K872N|ABL2_ENST00000408940.3_Missense_Mutation_p.K857N|ABL2_ENST00000504405.1_Missense_Mutation_p.K754N|ABL2_ENST00000344730.3_Missense_Mutation_p.K775N|ABL2_ENST00000512653.1_Missense_Mutation_p.K878N|ABL2_ENST00000511413.1_Missense_Mutation_p.K790N|ABL2_ENST00000507173.1_Missense_Mutation_p.K769N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	893	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K857N(2)|p.K893N(2)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCCACCATTCTTCTCTTTAC	0.617000			T	ETV6	AML								33	43					0	0	0.010818	0	0
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:35804479G>T	ENST00000216122.4	+	6	829	c.675G>T	c.(673-675)caG>caT	p.Q225H	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.Q182H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q225H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTCCAGACCCTGAAGC	0.582000													18	44					0.000566183	0.00060967	0.033300	1	0
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776988G>A	ENST00000392306.2	-	8	1321	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	SH2D2A_ENST00000368199.3_Silent_p.P384P|SH2D2A_ENST00000368198.3_Silent_p.P366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	384					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P384P(2)|p.P394P(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCCCAAGGGGAAGCCATG	0.592000													54	77					0	0	0.014410	0	0
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50360333C>T	ENST00000391842.1	+	6	830	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTOV1_ENST00000601638.1_Silent_p.Y188Y|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.Y220Y|PTOV1_ENST00000600603.1_Silent_p.Y188Y|PTOV1_ENST00000599732.1_Silent_p.Y220Y|PTOV1_ENST00000221557.9_Silent_p.Y188Y|AC018766.5_ENST00000593654.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.Y220Y(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617000													53	225					0	0	0.014410	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562000													23	70					0	0	0.016522	0	0
TEX9	374618	broad.mit.edu	37	15	56681599	56681599	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:56681599G>A	ENST00000558083.2	+	5	500		c.e5+1		TEX9_ENST00000352903.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site|TEX9_ENST00000561221.2_Splice_Site			Q8N6V9	TEX9_HUMAN	testis expressed 9									p.?(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAAATTCAAGGTATAGTATAG	0.274000													3	5					0	0	0.004672	0	0
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:88482504C>T	ENST00000324166.5	+	6	2680	c.989C>T	c.(988-990)tCt>tTt	p.S330F	THNSL2_ENST00000358591.2_Missense_Mutation_p.S330F|THNSL2_ENST00000402102.1_Missense_Mutation_p.S330F|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.S330F|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.S330F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	330					threonine biosynthetic process		threonine synthase activity	p.S330F(2)|p.S330fs*2(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGGCTGCTCTCTGGCTCTGAC	0.547000													7	20					0	0	0.003080	0	0
BEST1	7439	broad.mit.edu	37	11	61730375	61730375	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61730375C>G	ENST00000449131.2	+	9	1655	c.1569C>G	c.(1567-1569)ctC>ctG	p.L523L	BEST1_ENST00000301774.9_Silent_p.L211L|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378042.3_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378043.4_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	583					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.L523L(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGTCTGTCCTCCACCTGAACC	0.517000													3	41					0	0	0.004672	0	0
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:21346252C>G	ENST00000377191.3	+	26	2461	c.2366C>G	c.(2365-2367)tCc>tGc	p.S789C	XRN2_ENST00000539513.1_Missense_Mutation_p.S735C|XRN2_ENST00000430571.2_Missense_Mutation_p.S713C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.S789C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGAAAAATCCAGCAATGGA	0.473000													18	89					0	0	0.033300	0	0
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62416029A>G	ENST00000330574.2	-	2	1575	c.1523T>C	c.(1522-1524)gTc>gCc	p.V508A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing	integral to membrane|integrator complex	protein binding	p.V508A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGGGTATAGACAGACAGCAG	0.577000													26	143					0	0	0.027356	0	0
KIF18B	146909	broad.mit.edu	37	17	43012664	43012664	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43012664T>C	ENST00000587309.1	-	3	457	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	KIF18B_ENST00000590129.1_Missense_Mutation_p.Q154R|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q145R|KIF18B_ENST00000438933.2_Missense_Mutation_p.Q145R|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q145R	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.Q145R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTTCTCCTGCTGGCGGGC	0.657000													3	33					0	0	0.004672	0	0
TSEN2	80746	broad.mit.edu	37	3	12558159	12558159	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12558159A>T	ENST00000444864.1	+	6	1268	c.882_splice	c.e6+1	p.K294_splice	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Splice_Site_p.K294_splice|TSEN2_ENST00000454502.2_Splice_Site_p.K261_splice|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000402228.3_Splice_Site_p.K320_splice|TSEN2_ENST00000314571.7_Splice_Site_p.K294_splice|TSEN2_ENST00000284995.6_Splice_Site_p.K320_splice	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	320					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.K320M(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TACTATGAGAAGGTAAGATGC	0.318000													4	31					0	0	0.014758	0	0
CLN5	1203	broad.mit.edu	37	13	77566091	77566091	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77566091G>C	ENST00000377453.3	+	1	1297	c.5G>C	c.(4-6)cGc>cCc	p.R2P		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R2P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GGTGTCATGCGCCGGAACCTG	0.706000													6	9					0	0	0.021553	0	0
PLXNA1	5361	broad.mit.edu	37	3	126746796	126746796	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:126746796A>G	ENST00000251772.4	+	23	4376	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G	PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1459G			Q9UIW2	PLXA1_HUMAN	plexin A1	1459					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGCTGGGGAGCCGCTGTTC	0.667000													6	34					0	0	0.004482	0	0
FASTK	10922	broad.mit.edu	37	7	150774063	150774063	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:150774063C>T	ENST00000297532.6	-	9	1556	c.1479G>A	c.(1477-1479)gtG>gtA	p.V493V	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.V352V|FASTK_ENST00000482571.1_Silent_p.V466V|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	493	RAP.				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	p.V493V(1)		lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGCCCAGCAGCACCCGGCCGT	0.716000													14	37					0	0	0.016723	0	0
MFRP	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:119215663G>T	ENST00000555262.1	-	6	852	c.693C>A	c.(691-693)ctC>ctA	p.L231L	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Silent_p.L231L|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Silent_p.L231L|MFRP_ENST00000449574.2_Silent_p.L231L	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGACCACCAGGAGGTGGCTGG	0.617000													5	14					1.23904e-05	1.39404e-05	0.014758	1	0
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3541497C>G	ENST00000262919.5	+	8	1460	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	ATRN_ENST00000446916.2_Missense_Mutation_p.I464M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	464					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.I464M(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTTTGGTCACT	0.443000													13	48					0	0	0.013537	0	0
FANCM	57697	broad.mit.edu	37	14	45644332	45644332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45644332C>G	ENST00000267430.5	+	14	2460	c.2375C>G	c.(2374-2376)tCa>tGa	p.S792*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.S766*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	792					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S792*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGTTACCTCAACATTTATT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	24					0	0	0.021553	0	0
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247654775G>A	ENST00000522351.1	+	0	406							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V116I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGTCCTCCTGGTTGTCATGTC	0.607000													53	78					0	0	0.014410	0	0
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:89294166A>G	ENST00000370521.3	+	19	2781	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	PKN2_ENST00000370513.5_Missense_Mutation_p.M760V|PKN2_ENST00000544045.1_Missense_Mutation_p.M482V|PKN2_ENST00000370505.3_Missense_Mutation_p.M651V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.M808V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTCCAGGAATGGGATATGG	0.343000													5	21					0	0	0.021553	0	0
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:114879140C>A	ENST00000274457.3	-	2	612	c.51G>T	c.(49-51)cgG>cgT	p.R17R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	17						cytoplasm		p.R17R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGGTGAGAAGCCGGAGTTTGC	0.468000													12	46					5.50884e-06	6.277e-06	0.013537	1	0
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:57490421G>C	ENST00000262507.6	+	4	453	c.384G>C	c.(382-384)ctG>ctC	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					ubiquinone biosynthetic process	mitochondrion		p.L128L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTAGTCTCTGGGTCTCTCCA	0.512000													42	55					0	0	0.036044	0	0
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61028318A>G	ENST00000373867.3	-	9	1153	c.688T>C	c.(688-690)Tac>Cac	p.Y230H	FAM13C_ENST00000277705.6_Missense_Mutation_p.Y334H|FAM13C_ENST00000442566.3_Missense_Mutation_p.Y334H|FAM13C_ENST00000435852.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Y230H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Y313H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	313								p.Y313H(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTACCCGGTATTTCTTTTCT	0.493000													17	26					0	0	0.006122	0	0
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113539390T>C	ENST00000263339.3	-	4	265	c.110A>G	c.(109-111)cAt>cGt	p.H37R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	37					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.H37R(2)		breast(2)|large_intestine(1)|lung(9)	12						ATAGCTTACATGATAGAAGGA	0.443000													19	26					0	0	0.007413	0	0
PLXND1	23129	broad.mit.edu	37	3	129290610	129290610	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:129290610T>C	ENST00000393239.1	-	16	3333	c.3155A>G	c.(3154-3156)gAg>gGg	p.E1052G	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052G			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCGACGCTCGAAGCGCAC	0.662000													5	42					0	0	0.021553	0	0
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:3822343C>G	ENST00000497571.1	-	3	1015	c.755G>C	c.(754-756)cGa>cCa	p.R252P	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation	nucleus	zinc ion binding	p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGTGTGCTTTCGGAAGTGCCT	0.542000													7	23					0	0	0.029380	0	0
ZEB2	9839	broad.mit.edu	37	2	145156847	145156847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:145156847A>T	ENST00000558170.2	-	8	3091	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.L636*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.L636*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.L612*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	636						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L636*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACAGATGACAAGAGGAGGGC	0.443000													5	55					0	0	0.021553	0	0
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43508578G>C	ENST00000400427.1	+	5	958	c.562G>C	c.(562-564)Gtc>Ctc	p.V188L	UMODL1_ENST00000408910.2_Missense_Mutation_p.V260L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V188L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V260L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	260						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.V188L(2)|p.V260L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGATCAGCGTCCAGGTGCA	0.607000													3	6					0	0	0.004672	0	0
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:120916426C>T	ENST00000422003.2	+	2	215	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TBCEL_ENST00000529397.1_Silent_p.F9F	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm|cytoskeleton		p.F9F(2)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GAAGAAGTTTCATGCAAGTAT	0.383000													12	14					0	0	0.016723	0	0
PABPC3	5042	broad.mit.edu	37	13	25671037	25671037	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:25671037G>T	ENST00000281589.3	+	1	738	c.701G>T	c.(700-702)gGa>gTa	p.G234V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	234	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.G234V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGGATTTGGATTTGTAAGC	0.433000													13	62					0.0167234	0.0171923	0.016723	1	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4674254C>G	ENST00000396952.5	+	2	1148	c.498C>G	c.(496-498)atC>atG	p.I166M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTCATCAAGCAGCTGC	0.552000													25	99					0	0	0.021523	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61305166G>A	ENST00000341074.5	-	8	1075	c.960C>T	c.(958-960)agC>agT	p.S320S	SERPINB4_ENST00000356424.6_Silent_p.S268S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S320S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGACCGTGGCTCCAGGTCA	0.507000													9	26					0	0	0.004482	0	0
NES	10763	broad.mit.edu	37	1	156641485	156641485	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156641485G>A	ENST00000368223.3	-	4	2627	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	832	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTTGTCCCGCAGACTTCAG	0.413000													4	124					0	0	0.009096	0	0
DMBT1	1755	broad.mit.edu	37	10	124377590	124377590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:124377590G>T	ENST00000338354.3	+	38	4668	c.4562G>T	c.(4561-4563)cGa>cTa	p.R1521L	DMBT1_ENST00000368956.2_Missense_Mutation_p.R893L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R893L|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1511L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1511L|DMBT1_ENST00000359586.6_Missense_Mutation_p.R372L|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1521L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1521	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1521L(4)|p.R1650L(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGAGGCCGAGTGGAGGTC	0.582000													77	358					1.94393e-27	2.74958e-27	0.014410	1	0
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800886G>C	ENST00000408964.2	+	1	1498	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	483								p.D483H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACTAGATCAAGTCAC	0.423000													7	40					0	0	0.029380	0	0
NEK9	91754	broad.mit.edu	37	14	75563845	75563845	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75563845G>A	ENST00000238616.5	-	17	2289	c.2131C>T	c.(2131-2133)Ccg>Tcg	p.P711S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	711					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.P711S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GACAGGTCCGGGACATGATGC	0.522000													10	72					0	0	0.006214	0	0
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:101671405C>T	ENST00000360264.3	+	3	222	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292535.7_Silent_p.L57L|CUX1_ENST00000437600.4_Silent_p.L68L|CUX1_ENST00000556210.1_Silent_p.L57L|CUX1_ENST00000292538.4_Silent_p.L68L|CUX1_ENST00000550008.2_Silent_p.L57L|CUX1_ENST00000549414.2_Silent_p.L57L|CUX1_ENST00000393824.3_Silent_p.L31L|CUX1_ENST00000425244.2_Silent_p.L68L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.L57L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	57					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L57L(2)|p.L68L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGCCGCTGCTGAAGAGTTT	0.473000													9	27					0	0	0.008291	0	0
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128471546C>T	ENST00000322313.4	-	18	3077	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	973					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTCATGCCGCCTCTCTGACA	0.632000													27	66					0	0	0.009535	0	0
BCAS3	54828	broad.mit.edu	37	17	59465992	59465992	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:59465992A>G	ENST00000589222.1	+	25	2741	c.2673A>G	c.(2671-2673)ggA>ggG	p.G891G	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAAAAAAGGAAAAAAAAAAC	0.428000													2	3					0	0	0.004672	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													4	59					0	0	0.009096	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071151	150071151	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:150071151G>C	ENST00000409642.3	+	7	952	c.551G>C	c.(550-552)aGa>aCa	p.R184T	LYPD6B_ENST00000409876.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.R184T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	160						anchored to membrane|plasma membrane		p.R184T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACGCTCAGAGAACATCTGGC	0.498000													21	169					0	0	0.010504	0	0
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:115769466A>T	ENST00000264363.2	-	9	2523	c.1845T>A	c.(1843-1845)ctT>ctA	p.L615L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	615	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L615L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGCATAAGAAGAAATA	0.318000													8	14					0	0	0.003080	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155571195C>G	ENST00000392845.2	-	1	972	c.592G>C	c.(592-594)Gat>Cat	p.D198H	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D198H	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	198					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.D198H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCCAACCATCGACGGCAATG	0.473000													10	40					0	0	0.006214	0	0
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152733553A>T	ENST00000368773.1	+	2	1547	c.1489A>T	c.(1489-1491)Agc>Tgc	p.S497C	KPRP_ENST00000606109.1_Missense_Mutation_p.S497C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm		p.S497C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGGCGCAGCCCCAGCCC	0.647000													79	58					0	0	0.014410	0	0
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:2832300G>A	ENST00000317243.5	+	4	451		c.e4-1		ZNF554_ENST00000591265.1_Splice_Site	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTTTTCAGAAGCCTTGAA	0.423000													39	25					0	0	0.023175	0	0
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:141302217A>G	ENST00000394203.3	+	4	506	c.328A>G	c.(328-330)Agt>Ggt	p.S110G	SCOC_ENST00000394205.3_Missense_Mutation_p.S110G|SCOC_ENST00000394201.3_Missense_Mutation_p.S147G|SCOC_ENST00000506322.1_Missense_Mutation_p.S70G|SCOC_ENST00000512749.1_Missense_Mutation_p.S70G|SCOC_ENST00000506597.1_Missense_Mutation_p.S119G|SCOC_ENST00000338517.4_Missense_Mutation_p.S110G|SCOC_ENST00000502535.1_Missense_Mutation_p.S70G	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	147						Golgi apparatus|nucleus	protein binding	p.S147G(2)|p.S110G(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTCAGCTTCTAGTGTTTTTCA	0.338000													6	9					0	0	0.021553	0	0
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:119170450G>T	ENST00000264033.4	+	16	3056	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	894	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E894*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATCCTCCGGGAATTTGTTTC	0.488000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				119	180					5.55186e-77	7.98708e-77	0.014410	1	0
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128066163G>C	ENST00000409947.1	-	16	1914	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	MAP3K2_ENST00000344908.5_Missense_Mutation_p.I544M			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	544	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.I544M(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		AAACCTACCAGATGTCTGCTT	0.453000													36	192					0	0	0.023175	0	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							binding|oxidoreductase activity	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000													14	42					0	0	0.020292	0	0
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:47193890C>A	ENST00000433867.1	-	14	2253	c.1776G>T	c.(1774-1776)gaG>gaT	p.E592D	PRKD2_ENST00000291281.4_Missense_Mutation_p.E592D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D|PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D|PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572000													16	83					2.35188e-11	3.01361e-11	0.006122	1	0
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:144124453C>A	ENST00000395172.1	+	2	387	c.35C>A	c.(34-36)tCa>tAa	p.S12*	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	12								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCTGCAATTCAGTGAGGCAG	0.607000													21	62					4.96729e-08	5.99428e-08	0.008871	1	0
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:161495729C>A	ENST00000309758.4	+	1	1694	c.1281C>A	c.(1279-1281)acC>acA	p.T427T		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					response to unfolded protein		ATP binding	p.T427T(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAAGCAGACCCAGACTTTCA	0.597000													48	31					5.13769e-22	7.13984e-22	0.014410	1	0
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:106848433A>G	ENST00000228347.4	+	20	2459	c.2237A>G	c.(2236-2238)tAt>tGt	p.Y746C	POLR3B_ENST00000539066.1_Missense_Mutation_p.Y688C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	746					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.Y746C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGATGAGCTATAGTGGCTAT	0.373000													7	17					0	0	0.003080	0	0
POLR1E	64425	broad.mit.edu	37	9	37486630	37486630	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:37486630C>T	ENST00000377792.3	+	1	481	c.193C>T	c.(193-195)Cca>Tca	p.P65S	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	65					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTCTAGTCCCACCgtacat	0.552000													14	38					0	0	0.016723	0	0
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:26553192C>G	ENST00000381340.3	-	53	7816		c.e53-1		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTTCATCAGCTATAAAAACA	0.313000													8	23					0	0	0.003080	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387917	46387917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46387917C>T	ENST00000302165.3	-	1	1459	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCGCCAGGTTCCGGGATGGGG	0.751000													4	24					0	0	0.009096	0	0
TRIM23	373	broad.mit.edu	37	5	64910024	64910024	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:64910024C>T	ENST00000231524.9	-	3	638	c.267G>A	c.(265-267)ttG>ttA	p.L89L	TRIM23_ENST00000274327.7_Silent_p.L89L|TRIM23_ENST00000381018.3_Silent_p.L89L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	89					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTTTTTTTCAATCCCCAGA	0.353000													4	45					0	0	0.014758	0	0
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:17893966C>A	ENST00000594202.1	+	24	2357	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	FCHO1_ENST00000252771.7_Missense_Mutation_p.A693D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643D|FCHO1_ENST00000596536.1_Missense_Mutation_p.A693D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693D|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693D|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	693								p.A693D(2)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCCCAACGCCGATCTGCTG	0.617000													23	29					7.88262e-20	1.08595e-19	0.018920	1	0
FAM160A2	84067	broad.mit.edu	37	11	6238941	6238941	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6238941C>A	ENST00000265978.4	-	9	2275	c.1917G>T	c.(1915-1917)gaG>gaT	p.E639D	FAM160A2_ENST00000524416.1_Missense_Mutation_p.E625D|FAM160A2_ENST00000449352.2_Missense_Mutation_p.E625D	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	625					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACCAGGGccctcccctgcac	0.662000													5	24					0.014758	0.0151827	0.014758	1	0
TAPBP	6892	broad.mit.edu	37	6	33272866	33272866	+	Silent	SNP	G	G	A	rs145473025		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:33272866G>A	ENST00000434618.2	-	4	1113	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TAPBP_ENST00000475304.1_Silent_p.F274F|TAPBP_ENST00000456592.2_Silent_p.F256F|TAPBP_ENST00000489157.1_Silent_p.F169F|TAPBP_ENST00000426633.2_Silent_p.F256F	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	256					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	p.F256F(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGCAGCCAGAAGGTCCCAT	0.582000													20	109					0	0	0.014323	0	0
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128843023T>A	ENST00000296468.3	-	11	1221	c.1094A>T	c.(1093-1095)cAg>cTg	p.Q365L	MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320L|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACCTTCCCACTGTATTTTGGG	0.368000													8	12					0	0	0.004482	0	0
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512000													9	33					0	0	0.004482	0	0
PSG11	5680	broad.mit.edu	37	19	43530537	43530537	+	Translation_Start_Site	SNP	G	G	A	rs1064913		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43530537G>A	ENST00000401740.1	-	0	91				PSG11_ENST00000306322.7_De_novo_Start_OutOfFrame|PSG11_ENST00000403486.1_De_novo_Start_OutOfFrame|PSG11_ENST00000320078.7_De_novo_Start_OutOfFrame			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTCTGCTGCGTGCATGTTCT	0.582000													37	20					0	0	0.017118	0	0
PIGT	51604	broad.mit.edu	37	20	44054330	44054330	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:44054330C>G	ENST00000279036.6	+	12	1681	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PIGT_ENST00000341555.5_Missense_Mutation_p.T340S|PIGT_ENST00000372689.5_Missense_Mutation_p.T467S|PIGT_ENST00000543458.2_Missense_Mutation_p.T478S|PIGT_ENST00000535404.1_Missense_Mutation_p.T379S|PIGT_ENST00000279035.9_Missense_Mutation_p.T432S|PIGT_ENST00000545755.1_Missense_Mutation_p.T272S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	534					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T534S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCACGTGCACTGTGGTGGCC	0.612000													8	60					0	0	0.003080	0	0
NRP2	8828	broad.mit.edu	37	2	206607987	206607987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:206607987C>T	ENST00000360409.3	+	9	2143	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NRP2_ENST00000417189.1_Missense_Mutation_p.S451F|NRP2_ENST00000355117.4_Missense_Mutation_p.S451F|NRP2_ENST00000412873.2_Missense_Mutation_p.S451F|NRP2_ENST00000540841.1_Missense_Mutation_p.S451F|NRP2_ENST00000357785.5_Missense_Mutation_p.S451F|NRP2_ENST00000272849.3_Missense_Mutation_p.S451F|NRP2_ENST00000540178.1_Missense_Mutation_p.S451F|NRP2_ENST00000357118.4_Missense_Mutation_p.S451F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	451	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.S451F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCAGATCTCCGCCTCTTCC	0.617000													41	289					0	0	0.010771	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:202207129C>A	ENST00000405148.2	-	7	931	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.C163F|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.C163F|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.C163F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	163					regulation of GTPase activity		protein binding	p.C163F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CATCTCAGCACAGCGGAGATC	0.483000													15	11					2.23348e-06	2.57156e-06	0.028581	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039092	184039092	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184039092C>T	ENST00000342981.4	+	9	1134	c.720C>T	c.(718-720)atC>atT	p.I240I	EIF4G1_ENST00000441154.1_Silent_p.I76I|EIF4G1_ENST00000434061.2_Silent_p.I44I|EIF4G1_ENST00000392537.2_Silent_p.I153I|EIF4G1_ENST00000414031.1_Silent_p.I200I|EIF4G1_ENST00000346169.2_Silent_p.I240I|EIF4G1_ENST00000427845.1_Silent_p.I153I|EIF4G1_ENST00000424196.1_Silent_p.I247I|EIF4G1_ENST00000352767.3_Silent_p.I247I|EIF4G1_ENST00000411531.1_Silent_p.I200I|EIF4G1_ENST00000319274.6_Silent_p.I240I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.I247I|EIF4G1_ENST00000350481.5_Silent_p.I76I|EIF4G1_ENST00000435046.2_Silent_p.I44I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	240					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I240I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAGCAATCATTGCTGACC	0.572000													24	152					0	0	0.021523	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:140508500C>G	ENST00000371421.4	+	5	516	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151								p.S151C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACGTGGCCTCTGCCACCAAG	0.652000													24	78					0	0	0.018920	0	0
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219920102G>A	ENST00000295731.5	-	3	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	355					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.H355Y(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCCAGGTGGTGGTCAGCC	0.647000													32	35					0	0	0.012213	0	0
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site	SNP	C	C	A	rs28940587		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64518939C>A	ENST00000164139.3	-	16	2226		c.e16-1		PYGM_ENST00000377432.3_Splice_Site|PYGM_ENST00000462303.1_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.?(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGGTGCAGCCTGAGGGGACA	0.602000													41	92					1.52319e-26	2.14808e-26	0.033182	1	0
ACBD4	79777	broad.mit.edu	37	17	43213514	43213514	+	Translation_Start_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43213514G>T	ENST00000431281.1	+	4	472	c.3G>T	c.(1-3)atG>atT	p.M1I	ACBD4_ENST00000398322.3_Start_Codon_SNP_p.M1I|ACBD4_ENST00000376955.4_Start_Codon_SNP_p.M1I|ACBD4_ENST00000586346.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000592162.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000591859.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000321854.8_Start_Codon_SNP_p.M1I	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	1							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCAGCAGCATGGGCACCGAGA	0.627000													5	29					0.014758	0.0151827	0.014758	1	0
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:12374318G>A	ENST00000358136.3	+	30	7212	c.7082G>A	c.(7081-7083)tGt>tAt	p.C2361Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2361Y	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2361				C -> R (in Ref. 6; CAE46021).	protein localization			p.C2361Y(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGTTCAGCTGTATCTTTCAG	0.493000													11	14					0	0	0.016723	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332433	71332433	+	Missense_Mutation	SNP	C	C	G	rs140128333		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71332433C>G	ENST00000242462.4	-	2	396	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	123	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.E123Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCAGCGTCTCGATCTTGGTG	0.652000													5	38					0	0	0.014758	0	0
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:23848711G>T	ENST00000303531.7	+	2	341	c.189G>T	c.(187-189)caG>caT	p.Q63H	PRKCB_ENST00000321728.7_Missense_Mutation_p.Q63H|PRKCB_ENST00000498058.1_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	63					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.Q63H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGGAAGCAGGGATTCCAGT	0.547000													36	174					3.33393e-15	4.46816e-15	0.021022	1	0
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:112838147C>G	ENST00000280155.2	+	1	1358	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	116					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.F116L(2)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	ACGTGCTCTTCTGCACGTCGT	0.622000													8	28					0	0	0.003080	0	0
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53010126G>A	ENST00000305748.3	-	2	520	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.T162T(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCCACTTGGTCTCCAGCA	0.552000													17	72					0	0	0.028581	0	0
SLC25A6	293	broad.mit.edu	37	X	1508207	1508207	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1508207C>G	ENST00000381401.5	-	2	1239	c.525G>C	c.(523-525)caG>caC	p.Q175H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	175					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.Q175H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACTGAAGCCCTGGTACAGGC	0.632000													34	114					0	0	0.012213	0	0
ISG20	3669	broad.mit.edu	37	15	89198743	89198743	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89198743G>A	ENST00000306072.5	+	4	885	c.527G>A	c.(526-528)cGc>cAc	p.R176H	ISG20_ENST00000560741.1_Missense_Mutation_p.R176H|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	176					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	p.R176H(1)		large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GGGCTGCCCCGCCTGGCTGTG	0.572000													19	63					0	0	0.008871	0	0
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:24310356C>G	ENST00000357002.4	+	4	1669	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Y433*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	518					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y518*(2)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAAACCCTACAAATGTGAAG	0.368000													13	15					0	0	0.016723	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140788971A>T	ENST00000520790.1	+	1	1202	c.1202A>T	c.(1201-1203)tAc>tTc	p.Y401F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.Y401F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATAACTACTACAAACTG	0.458000													12	27					0	0	0.010729	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522323	144522323	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:144522323C>T	ENST00000262577.5	-	11	2734	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	901					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTTGGAGCACGCTGCTGCTA	0.662000													3	9					0	0	0.009096	0	0
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:2535350C>T	ENST00000288709.6	-	11	1227	c.987G>A	c.(985-987)gaG>gaA	p.E329E	MMEL1_ENST00000378412.3_Silent_p.E338E|MMEL1_ENST00000502556.1_Silent_p.E181E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.E329E(2)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTGCAGCTCCTCCAGTCCCA	0.662000													21	80					0	0	0.018920	0	0
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:37821747C>T	ENST00000345060.3	-	2	1711	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	406					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	p.G406R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TAAGAAACTCCCCAAGAAGCC	0.507000													5	16					0	0	0.021553	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756552	15756552	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15756552C>G	ENST00000221307.7	+	3	270	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000586182.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.L74L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGAAGGTCTCCTATACACAC	0.557000													11	80					0	0	0.013537	0	0
C1orf61	10485	broad.mit.edu	37	1	156384530	156384530	+	Silent	SNP	C	C	G	rs144548564		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156384530C>G	ENST00000368243.1	-	4	203	c.87G>C	c.(85-87)gcG>gcC	p.A29A	C1orf61_ENST00000476966.1_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	29						nucleus		p.A29A(1)		large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AGAACCCACCCGCCCCAGGTG	0.532000													5	16					0	0	0.014758	0	0
HRNR	388697	broad.mit.edu	37	1	152187607	152187607	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152187607G>C	ENST00000368801.2	-	3	6573	c.6498C>G	c.(6496-6498)tcC>tcG	p.S2166S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2166					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACTGACGGGAGCCAGACC	0.632000													19	735					0	0	0.016522	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:209218694G>T	ENST00000264380.4	+	40	6075	c.5917G>T	c.(5917-5919)Gtc>Ttc	p.V1973F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1973	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.V1973F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTGATGTGGTCCTGCTAGA	0.393000													31	38					3.73148e-12	4.83334e-12	0.034045	1	0
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235949751A>G	ENST00000409212.1	+	4	845	c.338A>G	c.(337-339)aAc>aGc	p.N113S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.N113S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.N113S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.N113S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTTGAACTACCGGAAC	0.552000													8	34					0	0	0.003080	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798781	113798781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113798781G>A	ENST00000281273.4	+	8	1032	c.775G>A	c.(775-777)Gag>Aag	p.E259K	QTRTD1_ENST00000493014.1_Missense_Mutation_p.E153K|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E271K|QTRTD1_ENST00000479882.1_Missense_Mutation_p.E136K	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	259					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.E259K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TCGGCCAGATGAGGTGCTCGA	0.408000													14	114					0	0	0.028581	0	0
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:108778673C>T	ENST00000232603.5	-	12	1093	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000483760.1_Silent_p.K337K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	337					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363000													6	9					0	0	0.029380	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:113436310G>T	ENST00000313341.3	-	2	648	c.322C>A	c.(322-324)Cgc>Agc	p.R108S		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.R108S(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTCTTGATGCGCTGCACCGTC	0.687000													20	33					1.01871e-10	1.29145e-10	0.008871	1	0
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52448768G>T	ENST00000545748.1	+	3	1813	c.818G>T	c.(817-819)gGg>gTg	p.G273V	NR4A1_ENST00000548232.1_Missense_Mutation_p.G219V|NR4A1_ENST00000394824.2_Missense_Mutation_p.G219V|NR4A1_ENST00000394825.1_Missense_Mutation_p.G219V|NR4A1_ENST00000243050.1_Missense_Mutation_p.G219V|NR4A1_ENST00000360284.3_Missense_Mutation_p.G232V|NR4A1_ENST00000550082.1_Missense_Mutation_p.G232V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	p.G219V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CACCAGCTGGGGGAGGGAGAG	0.632000													77	145					8.6982e-55	1.24884e-54	0.014410	1	0
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117552698A>T	ENST00000256652.4	+	2	328	c.270A>T	c.(268-270)cgA>cgT	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													6	38					0	0	0.029380	0	0
KCNN1	3780	broad.mit.edu	37	19	18092827	18092827	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:18092827A>T	ENST00000601725.1	+	0	443																											CACCTTCAACACGCGCTTCGT	0.612000													3	9					0	0	0.004672	0	0
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:669766C>G	ENST00000281017.3	-	4	411	c.318G>C	c.(316-318)atG>atC	p.M106I	TMEM18_ENST00000355654.2_Missense_Mutation_p.M93I|TMEM18_ENST00000405941.3_Missense_Mutation_p.M109I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	106					cell migration	integral to membrane|nuclear membrane		p.M106I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCACAATGATCATGGCATTCA	0.358000													13	22					0	0	0.016723	0	0
SV2A	9900	broad.mit.edu	37	1	149882451	149882451	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149882451G>A	ENST00000369146.3	-	4	1372	c.882C>T	c.(880-882)agC>agT	p.S294S	SV2A_ENST00000369145.1_Silent_p.S294S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	294					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S294S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCAGAGCCAGCTCAAATGCT	0.542000													9	55					0	0	0.004482	0	0
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776986A>C	ENST00000392306.2	-	8	1323	c.1184T>G	c.(1183-1185)cTt>cGt	p.L395R	SH2D2A_ENST00000368199.3_Missense_Mutation_p.L385R|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L367R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	385					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.L385R(2)|p.L395R(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGCCCAAGGGGAAGCCA	0.582000													55	76					0	0	0.014410	0	0
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:4892412G>T	ENST00000328908.5	+	4	783	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDYL_ENST00000343762.5_Nonsense_Mutation_p.E32*|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E164*|CDYL_ENST00000449732.2_Nonsense_Mutation_p.E32*|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	218					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.E218*(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGAGCCCTGAGAAACTGGA	0.597000													15	23					1.49906e-05	1.68526e-05	0.020292	1	0
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:121295936C>G	ENST00000297848.3	+	32	4156	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1296A|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1201A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1296	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1296A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGGATTCTTCCTGACACTCC	0.388000													40	198					0	0	0.864702	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842568	22842568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22842568G>A	ENST00000360412.2	-	4	1931	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF280B_ENST00000406426.1_Nonsense_Mutation_p.Q386*	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q386*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAGAGGACCTGATCTGTTTCA	0.468000													81	379					0	0	0.870114	0	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:10602328C>T	ENST00000171111.5	-	3	1797	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													3	4					0	0	0.184627	0	0
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:42355849T>A	ENST00000554171.1	+	5	2453	c.21T>A	c.(19-21)taT>taA	p.Y7*	LRFN5_ENST00000298119.4_Nonsense_Mutation_p.Y7*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.Y7*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	7						integral to membrane		p.Y7*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTTTTTTATCTGTTTCTCA	0.363000										HNSCC(30;0.082)			26	43					0	0	0.750413	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:67800450G>T	ENST00000313468.5	+	4	277	c.170G>T	c.(169-171)cGc>cTc	p.R57L	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	57					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	p.R57L(2)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CGGGCAGCCCGCACCCTGCTG	0.652000													15	16					5.03518e-11	5.6466e-11	0.557998	1	0
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:7231811G>T	ENST00000383467.2	+	1	689	c.675G>T	c.(673-675)ccG>ccT	p.P225P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTCCTTCCCGAGGTCGCTTT	0.577000													38	67					3.21399e-22	3.88152e-22	0.804634	1	0
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:122063033G>T	ENST00000454328.1	-	11	1050	c.823C>A	c.(823-825)Cac>Aac	p.H275N	TNIP3_ENST00000507879.1_Missense_Mutation_p.H345N|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.H352N|TNIP3_ENST00000057513.3_Missense_Mutation_p.H275N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	275								p.H275N(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTTGCAGGTGGAAAACCAAG	0.502000													32	62					2.24893e-16	2.61327e-16	0.847076	1	0
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:18112823C>A	ENST00000403915.1	+	3	999	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.S183Y|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	183					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.S183Y(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTGCCTGTCCGCTAAGCTT	0.507000													58	117					5.5144e-22	6.65402e-22	0.870114	1	0
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:76372111C>A	ENST00000407242.2	-	3	768	c.526G>T	c.(526-528)Gag>Tag	p.E176*	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E176*|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E176*	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176						integral to plasma membrane		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637000													42	133					7.89702e-26	9.71148e-26	0.870114	1	0
GOLGA2P5	55592	broad.mit.edu	37	12	100561198	100561198	+	RNA	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100561198T>C	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						TCTCCGTTTGTAGTTATCTAA	0.498000													2	6					0	0	0.115264	0	0
DRD3	1814	broad.mit.edu	37	3	113890706	113890706	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113890706A>T	ENST00000383673.2	-	2	564	c.134T>A	c.(133-135)tTc>tAc	p.F45Y	DRD3_ENST00000460779.1_Missense_Mutation_p.F45Y|DRD3_ENST00000295881.7_Missense_Mutation_p.F45Y|DRD3_ENST00000467632.1_Missense_Mutation_p.F45Y	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	45					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCATTGCCGAAGACGATGGC	0.607000													6	70					0	0	0.278610	0	0
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78400307A>T	ENST00000397909.2	+	8	1162	c.989A>T	c.(988-990)aAg>aTg	p.K330M	NAV3_ENST00000536525.2_Missense_Mutation_p.K330M|NAV3_ENST00000266692.7_Missense_Mutation_p.K330M|NAV3_ENST00000228327.6_Missense_Mutation_p.K330M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K330M(2)		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						AGTGCCAGCAAGCCCTGGCGC	0.547000										HNSCC(70;0.22)			55	150					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:70535449C>A	ENST00000377844.4	-	3	1567	c.808G>T	c.(808-810)Gca>Tca	p.A270S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A77S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	270	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTATATGCAAATTGGACA	0.353000													62	107					7.97268e-31	1.00226e-30	0.870114	1	0
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:148513776C>T	ENST00000320356.2	-	12	1626	c.1505_splice	c.e12+1	p.R502_splice	EZH2_ENST00000350995.2_Splice_Site_p.R458_splice|EZH2_ENST00000541220.1_Splice_Site_p.R488_splice|EZH2_ENST00000483967.1_Splice_Site_p.R488_splice|EZH2_ENST00000476773.1_Splice_Site_p.R488_splice|EZH2_ENST00000478654.1_Splice_Site_p.R488_splice|EZH2_ENST00000460911.1_Splice_Site_p.R497_splice	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	497					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R502Q(2)|p.R458Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAGACTCACCGGTGTTTCCT	0.453000			Mis		DLBCL								35	38					0	0	0.819951	0	0
MB21D2	151963	broad.mit.edu	37	3	192516994	192516994	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:192516994G>A	ENST00000392452.2	-	2	977	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	219								p.I217I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGATGGAGATGATGGTCCCAT	0.468000													16	248					0	0	0.539581	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:148797297A>T	ENST00000355220.5	+	4	328	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S47C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	76						cytoplasm|nucleus	protein binding	p.S76C(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGACAGGAGTCCCAGGAG	0.502000													19	50					0	0	0.639603	0	0
KMT2C	58508	broad.mit.edu	37	7	151945082	151945082	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:151945082G>C	ENST00000355193.2	-	14	2655	c.2437C>G	c.(2437-2439)Cca>Gca	p.P813A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P813A					lysine (K)-specific methyltransferase 2C									p.P813A(2)									TAAGTTGTTGGCATGATGTTT	0.448000													93	1280					0	0	0.870114	0	0
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100934574G>A	ENST00000548884.1	+	9	1585	c.1044G>A	c.(1042-1044)ttG>ttA	p.L348L	NR1H4_ENST00000392986.3_Silent_p.L352L|NR1H4_ENST00000549996.1_Silent_p.L301L|NR1H4_ENST00000188403.7_Silent_p.L358L|NR1H4_ENST00000551379.1_Silent_p.L362L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L362L(2)|p.L348L(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTGACCTATTGGAAGAAAGAA	0.423000													76	123					0	0	0.870114	0	0
VEZF1	7716	broad.mit.edu	37	17	56058018	56058018	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:56058018G>C	ENST00000584396.1	-	4	983	c.895C>G	c.(895-897)Cat>Gat	p.H299D	VEZF1_ENST00000581208.1_Missense_Mutation_p.H308D			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H308D(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTCTGCCCATGAGTCTTTAAG	0.443000													26	152					0	0	0.769981	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677957	55677957	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55677957C>T	ENST00000527223.2	-	1	61	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.V20V	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0								p.V20V(1)									GGACCCGCGGCACTCCACAAC	0.582000													12	43					0	0	0.411799	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:104335781G>A	ENST00000361820.3	-	9	3623	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGCTGACGGGGTCCCACATT	0.448000													80	92					0	0	0.870114	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:11505373G>T	ENST00000379237.1	-	15	1948	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518						intracellular	Rab GTPase activator activity	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000													52	96					5.22555e-25	6.37626e-25	0.870114	1	0
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180581966C>A	ENST00000328275.1	+	1	24	c.24C>A	c.(22-24)tcC>tcA	p.S8S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACCAGTCCTACACAGATG	0.507000													104	293					7.97055e-49	1.06349e-48	0.870114	1	0
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:151789697G>T	ENST00000367294.3	+	5	1037	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	C6orf211_ENST00000545879.1_Missense_Mutation_p.V141F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	260							protein binding	p.V260F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTGAGCTTGTTACAGATTT	0.358000													46	60					3.50607e-19	4.17361e-19	0.870114	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31744334G>C	ENST00000399889.2	-	1	223	c.198C>G	c.(196-198)tgC>tgG	p.C66W		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	5 X 10 AA approximate repeats.					intermediate filament		p.C66W(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGACGTCTGGCAGCTGGTGG	0.602000													19	91					0	0	0.693898	0	0
CTSV	1515	broad.mit.edu	37	9	99800279	99800279	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:99800279G>C	ENST00000259470.5	-	2	296	c.47C>G	c.(46-48)tCc>tGc	p.S16C	CTSV_ENST00000538255.1_Missense_Mutation_p.S16C|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2			cathepsin V																		TGGAACAGCGGAGGCTATTCC	0.413000													3	44					0	0	0.115264	0	0
TAP2	6891	broad.mit.edu	37	6	32805830	32805830	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:32805830A>C	ENST00000374897.2	-	2	312	c.181T>G	c.(181-183)Ttt>Gtt	p.F61V	TAP2_ENST00000374899.4_Missense_Mutation_p.F61V|TAP2_ENST00000452392.2_Missense_Mutation_p.F61V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	61					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.F61V(2)									GTCCCCACAAATCCCAGCAGC	0.667000													17	47					0	0	0.608945	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													4	45					0.00909568	0.00921304	0.150653	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1																						CCTTTGTGTCCCCTTTGGCTT	0.532000													48	77					0	0	0.870114	0	0
DST	667	broad.mit.edu	37	6	56401663	56401663	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:56401663G>C	ENST00000370754.5	-	62	16590	c.16591C>G	c.(16591-16593)Cag>Gag	p.Q5531E	DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3265E|DST_ENST00000370769.4_Missense_Mutation_p.Q5353E|DST_ENST00000421834.2_Missense_Mutation_p.Q3265E|DST_ENST00000446842.2_Missense_Mutation_p.Q5027E|DST_ENST00000244364.6_Missense_Mutation_p.Q2939E|DST_ENST00000361203.3_Missense_Mutation_p.Q5351E			Q03001	DYST_HUMAN	dystonin	5351					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q5353E(1)|p.Q2939E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGCACTCTGAATAAGGCCT	0.423000													29	168					0	0	0.788014	0	0
SNX27	81609	broad.mit.edu	37	1	151641082	151641082	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:151641082G>A	ENST00000368843.3	+	7	1240	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.D281N|SNX27_ENST00000458013.2_Missense_Mutation_p.D374N	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	374					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.D374N(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAATGACAATGACCTTGCTGT	0.363000													25	218					0	0	0.717897	0	0
MARCH1	55016	broad.mit.edu	37	4	164534557	164534557	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:164534557A>T	ENST00000339875.5	-	1	129	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	51	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L34M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGAAACAAGTTAGATAAT	0.438000													26	86					0	0	0.729181	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:103349497T>G	ENST00000357421.4	-	2	624	c.444A>C	c.(442-444)caA>caC	p.Q148H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	148					transport	integral to membrane|mitochondrial inner membrane		p.Q148H(2)									GGAAGCGAGCTTGCTTGCGAC	0.587000													91	201					0	0	0.870114	0	0
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113955199C>T	ENST00000245796.6	+	13	2640	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	PSD4_ENST00000441564.2_Silent_p.L787L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L815L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATGGTTCTCTACTTCCTGA	0.552000													12	52					0	0	0.411799	0	0
C4orf22	255119	broad.mit.edu	37	4	81504334	81504334	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:81504334G>A	ENST00000358105.3	+	3	379	c.330G>A	c.(328-330)ctG>ctA	p.L110L	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Silent_p.L110L	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	110								p.L110L(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGGAAAACTGAGTGTAAGTA	0.338000													12	69					0	0	0.479597	0	0
TRPC6	7225	broad.mit.edu	37	11	101375108	101375108	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:101375108G>T	ENST00000344327.3	-	2	1016	c.592C>A	c.(592-594)Cag>Aag	p.Q198K	TRPC6_ENST00000348423.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000532133.1_Missense_Mutation_p.Q198K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	198					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.Q198K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTCAGACTGGCTAGGGCTG	0.468000													27	141					3.65163e-15	4.21204e-15	0.706142	1	0
TRPT1	83707	broad.mit.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:63991664C>G	ENST00000394546.2	-	7	797	c.584G>C	c.(583-585)cGc>cCc	p.R195P	TRPT1_ENST00000394547.3_Missense_Mutation_p.R144P|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000317459.6_Missense_Mutation_p.R193P|TRPT1_ENST00000546089.1_Intron	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193							tRNA 2'-phosphotransferase activity	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567000													5	12					0	0	0.217242	0	0
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:148846478G>T	ENST00000367467.3	+	11	1736	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421							protein binding	p.G421C(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTGCACGTTGGCAGTAATAA	0.423000													87	98					1.64877e-56	2.23152e-56	0.870114	1	0
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15138469G>A	ENST00000378207.3	-	2	628	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	119						integral to membrane		p.L119F(2)		lung(5)|upper_aerodigestive_tract(1)	6						GCGGGGAGAAGGAGGAGGCTC	0.478000													6	25					0	0	0.217242	0	0
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:129357178G>T	ENST00000393232.1	+	9	1302	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	NRF1_ENST00000393231.3_Missense_Mutation_p.E395D|NRF1_ENST00000393230.2_Missense_Mutation_p.E395D|NRF1_ENST00000539636.1_Missense_Mutation_p.E234D|NRF1_ENST00000223190.4_Missense_Mutation_p.E395D|NRF1_ENST00000353868.4_Missense_Mutation_p.E329D|NRF1_ENST00000311967.2_Missense_Mutation_p.E395D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E395D(2)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCTCAGGAGATGCAGCAGG	0.572000													80	68					9.34078e-37	1.20425e-36	0.870114	1	0
TRAV24	28659	broad.mit.edu	37	14	22573837	22573837	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22573837C>G	ENST00000390453.1	+	0	57																											AAAAAACAGGCGTGAGCAGCA	0.438000													11	35					0	0	0.387290	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:139909060G>T	ENST00000297183.6	+	29	6653	c.6529G>T	c.(6529-6531)Gtg>Ttg	p.V2177L	ANKHD1_ENST00000544120.1_Missense_Mutation_p.V560L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V2177L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.V2177L(4)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCTGCAGTGCAGCTTTC	0.443000													48	121					1.19451e-25	1.46514e-25	0.870114	1	0
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:21214028T>C	ENST00000592179.1	-	5	570	c.416A>G	c.(415-417)cAt>cGt	p.H139R	ANKRD29_ENST00000322980.9_Missense_Mutation_p.H139R|ANKRD29_ENST00000284207.7_Missense_Mutation_p.H139R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139								p.H139R(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTGGTCATGGATGTTTGC	0.493000													26	69					0	0	0.760397	0	0
IGSF8	93185	broad.mit.edu	37	1	160063737	160063737	+	Missense_Mutation	SNP	G	G	A	rs149050765		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160063737G>A	ENST00000368086.1	-	3	883	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	IGSF8_ENST00000314485.7_Missense_Mutation_p.R223W|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	223	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.R223W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AAGTCTGACCGGATTCCCACC	0.612000													40	189					0	0	0.864702	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149001437A>T	ENST00000333677.6	+	9	1310	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	383	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S383C(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGGTGGGCAGTGTGACCTA	0.592000													11	72					0	0	0.387290	0	0
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155615825A>G	ENST00000496455.1	+	3	654	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.M107V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGCTATGGTATGCAGGTATG	0.363000			T	MLL	AML								102	362					0	0	0.870114	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575302	56575302	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56575302G>A	ENST00000394023.3	-	10	1025	c.920C>T	c.(919-921)cCa>cTa	p.P307L	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P307L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P307L|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P307L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	307					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P307L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTGGGGTTGGTGAAGGAGA	0.512000													15	97					0	0	0.575678	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49340593C>T	ENST00000263265.6	-	20	2848	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	765						cytoplasm|membrane	1-phosphatidylinositol binding	p.E765K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CATGCCCCCTCGTCTTGTGGC	0.677000													20	103					0	0	0.693898	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport|sodium ion transport	integral to membrane		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677000													12	23					0	0	0.435327	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882203	6882203	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:6882203G>T	ENST00000419673.2	+	10	1098	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R294I|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R276I|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R401I|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R453I|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R294I|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R289I|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R453I	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	276					signal transduction	intracellular		p.R294I(1)|p.R453I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATGTGCCATAGAGAAGCTGCA	0.388000													7	132					0.000274275	0.000282884	0.307466	1	0
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:220097894G>C	ENST00000323348.5	+	6	826	c.652G>C	c.(652-654)Gct>Cct	p.A218P	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A8P|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A218P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	218						intracellular	zinc ion binding	p.A218P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTTTGCTGGTGCTAT	0.557000													37	211					0	0	0.847076	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302615	87302615	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:87302615T>C	ENST00000263780.4	+	5	724	c.486T>C	c.(484-486)atT>atC	p.I162I	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.I121I|CHMP2B_ENST00000494980.1_Silent_p.I132I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	162					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.I162I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCCAGGATATTGTGAATCAAG	0.378000													35	237					0	0	0.859065	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:103106399A>T	ENST00000375735.2	+	62	9711		c.e62-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTTCCAGGTTGTAGAG	0.373000													31	88					0	0	0.819951	0	0
EPHB1	2047	broad.mit.edu	37	3	134670262	134670262	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:134670262A>G	ENST00000398015.3	+	3	543	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	58						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.Y58C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCCGCACCTACCAGGTGTGC	0.527000													16	109					0	0	0.557998	0	0
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	T	C	rs141436878		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:76111922T>C	ENST00000324432.5	+	5	876	c.366T>C	c.(364-366)acT>acC	p.T122T	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446600.1_Silent_p.T31T|DTX2_ENST00000413936.2_Silent_p.T122T|DTX2_ENST00000430490.2_Silent_p.T122T|DTX2_ENST00000307569.8_Silent_p.T122T|DTX2_ENST00000446820.2_Silent_p.T122T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	122	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.T122T(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTCCTGGACTGCCTATGAAG	0.632000													6	34					0	0	0.307466	0	0
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:234593467G>A	ENST00000040877.1	-	9	1667	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L556L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAGACATGAGAAAAGTTG	0.328000													78	100					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141773472	141773472	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:141773472C>G	ENST00000389484.3	-	13	2954	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	661					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W661C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTCTGTCCAATACATCC	0.403000										TSP Lung(27;0.18)			31	204					0	0	0.788014	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006403	44006403	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:44006403G>A	ENST00000292140.5	-	3	606	c.246C>T	c.(244-246)gcC>gcT	p.A82A	PHLDB3_ENST00000599242.1_Silent_p.A82A	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	82								p.A82A(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGGAGGTGTGGCCGCCATAG	0.652000													4	11					0	0	0.217242	0	0
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:69758130C>G	ENST00000370598.1	+	14	2982	c.2161C>G	c.(2161-2163)Cca>Gca	p.P721A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAACTTTCCAATGAAAGG	0.363000													52	55					0	0	0.870114	0	0
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:82336941T>A	ENST00000329713.4	-	2	705	c.270A>T	c.(268-270)aaA>aaT	p.K90N	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	90	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.K90N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCCGCAGCGCTTTGATTTTAC	0.597000													9	15					0	0	0.387290	0	0
MOB4	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198400314G>A	ENST00000323303.4	+	3	439	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MOB4_ENST00000233892.4_Missense_Mutation_p.E30K|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.E41K|MOB4_ENST00000604458.1_Missense_Mutation_p.E98K|MOB4_ENST00000409360.1_Missense_Mutation_p.E30K|MOB4_ENST00000497443.1_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein									p.E62K(2)									TGAACCACCTGAAGGCCAAGA	0.318000													223	217					0	0	0.870114	0	0
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:121738051G>C	ENST00000264808.3	-	6	919	c.679C>G	c.(679-681)Cta>Gta	p.L227V	PRDM5_ENST00000428209.2_Intron|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L227V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACTCCTTTAGACTGCTTTTC	0.368000													45	194					0	0	0.870114	0	0
ZNF232	7775	broad.mit.edu	37	17	5012590	5012590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:5012590G>A	ENST00000416429.2	-	3	794	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ZNF232_ENST00000575898.1_Intron|ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000250076.3_Intron			Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCTGGCCCAAGAGAGGTTTGA	0.532000													5	7					0	0	0.184627	0	0
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:84399443C>A	ENST00000260505.8	-	9	1272	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.V299L(2)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTCTTTACCACCAATTCCTAT	0.443000													46	168					2.84144e-21	3.41407e-21	0.870114	1	0
SELP	6403	broad.mit.edu	37	1	169562881	169562881	+	Missense_Mutation	SNP	G	G	A	rs75278502	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:169562881G>A	ENST00000263686.6	-	14	2406	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	SELP_ENST00000367788.2_Missense_Mutation_p.T728M|SELP_ENST00000367794.2_Missense_Mutation_p.T728M|SELP_ENST00000367793.2_Missense_Mutation_p.T728M|SELP_ENST00000458599.2_Missense_Mutation_p.T606M|SELP_ENST00000367792.2_Missense_Mutation_p.T606M|SELP_ENST00000367791.2_Missense_Mutation_p.T604M|SELP_ENST00000367786.2_Missense_Mutation_p.T728M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	790					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGCCAGGAGCGTCCCACCCAT	0.418000													13	129					0	0	0.479597	0	0
NCK2	8440	broad.mit.edu	37	2	106498084	106498084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:106498084C>G	ENST00000233154.4	+	4	969	c.527C>G	c.(526-528)tCc>tGc	p.S176C	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S176C	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	176					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.S176C(1)		endometrium(1)|lung(3)|ovary(1)	5						GCTGCGGAGTCCCCAAGCTTC	0.657000													6	27					0	0	0.278610	0	0
PIWIL4	143689	broad.mit.edu	37	11	94330994	94330994	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:94330994A>G	ENST00000299001.6	+	11	1504	c.1293A>G	c.(1291-1293)ctA>ctG	p.L431L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.L431L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTTTGAACTAGAGACCTGGG	0.383000													42	88					0	0	0.870114	0	0
KLHL14	57565	broad.mit.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						cytosol|endoplasmic reticulum membrane		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378000													26	191					0	0	0.750413	0	0
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:30649288C>A	ENST00000389266.3	+	7	1064	c.823C>A	c.(823-825)Cca>Aca	p.P275T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.P275T(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCTATCCCCTCCAGTGTCTTT	0.358000													20	47					3.10358e-05	3.23166e-05	0.624587	1	0
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247695646G>T	ENST00000366487.3	-	2	529	c.168C>A	c.(166-168)ctC>ctA	p.L56L	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493000													74	90					5.01443e-46	6.64047e-46	0.870114	1	0
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:1418261A>G	ENST00000345913.4	+	2	172	c.81A>G	c.(79-81)aaA>aaG	p.K27K	TPO_ENST00000349624.3_Silent_p.K27K|TPO_ENST00000382198.1_Silent_p.K27K|TPO_ENST00000337415.3_Silent_p.K27K|TPO_ENST00000346956.3_Silent_p.K27K|TPO_ENST00000329066.4_Silent_p.K27K|TPO_ENST00000539820.1_Silent_p.K27K|TPO_ENST00000382201.3_Silent_p.K27K|TPO_ENST00000382269.3_Silent_p.K27K|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	27					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.K27K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGAGAGGGAAAGAACTCCTTT	0.458000													5	12					0	0	0.217242	0	0
ZNF160	90338	broad.mit.edu	37	19	53572843	53572843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:53572843C>A	ENST00000601421.1	-	3	1712	c.836G>T	c.(835-837)tGt>tTt	p.C279F	ZNF160_ENST00000418871.1_Missense_Mutation_p.C315F|ZNF160_ENST00000429604.1_Missense_Mutation_p.C315F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C315F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	315					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C315F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATGACATTTGTAAGG	0.413000													36	208					5.59293e-11	6.26213e-11	0.827153	1	0
UNC79	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94083525C>A	ENST00000553484.1	+	29	4319	c.4165C>A	c.(4165-4167)Ctc>Atc	p.L1389I	UNC79_ENST00000555664.1_Missense_Mutation_p.L1367I|UNC79_ENST00000256339.4_Missense_Mutation_p.L1190I|UNC79_ENST00000393151.2_Missense_Mutation_p.L1367I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1367						integral to membrane		p.L1190I(2)|p.L1389I(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTTCAGGTGCTCAAATACTG	0.433000													55	244					2.36135e-34	3.02502e-34	0.870114	1	0
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:90039433G>A	ENST00000435041.2	-	8	1200	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.L308L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCGTTTGCCAGATATATTCGT	0.403000													69	66					0	0	0.870114	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044714	184044714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184044714C>G	ENST00000342981.4	+	22	3788	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.S1124*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.S961*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.S960*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.S1084*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.S929*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.S1037*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.S928*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.S1085*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.S1124*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.S1038*|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1124					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S1124*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCTTCTCAGCCCTTCAA	0.463000													7	107					0	0	0.278610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37121587	37121587	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:37121587G>A	ENST00000262879.6	+	3	485	c.201G>A	c.(199-201)atG>atA	p.M67I	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.M67I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.M67I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.M67I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	67					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.M67I(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATGGACCATGGAAGTAATTT	0.348000													59	154					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:216348824G>A	ENST00000366943.2	-	21	4783	c.4396_splice	c.e21-1	p.A1466_splice	USH2A_ENST00000366942.3_Splice_Site_p.A1466_splice|USH2A_ENST00000307340.3_Splice_Site_p.A1466_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1466					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1466V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGCTGGTGCTAAATATTA	0.373000										HNSCC(13;0.011)			72	64					0	0	0.870114	0	0
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:15268584T>C	ENST00000546332.1	-	6	1019	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ASB9_ENST00000380483.3_Missense_Mutation_p.Q169R|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.Q179R|ASB9_ENST00000380485.3_Missense_Mutation_p.Q179R	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	179					intracellular signal transduction			p.Q179R(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTCTCTGTTGGTTTTC	0.403000													24	65					0	0	0.729181	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:124676442G>T	ENST00000368417.1	+	3	282	c.222G>T	c.(220-222)acG>acT	p.T74T	NKAIN2_ENST00000368416.1_Silent_p.T74T|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Silent_p.T74T|NKAIN2_ENST00000545433.1_Silent_p.T59T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	74						integral to membrane|plasma membrane		p.T74T(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCTGGGTTACGTGGAATGTGT	0.388000													127	236					2.91622e-83	4.03587e-83	0.870114	1	0
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:1056458C>A	ENST00000382251.3	+	5	1200	c.871C>A	c.(871-873)Cca>Aca	p.P291T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.P291T|DMRT2_ENST00000358146.2_Missense_Mutation_p.P291T|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	291					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P291T(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAGCCCCAGCCCAGTGGAACC	0.483000													15	88					2.94398e-08	3.19007e-08	0.557998	1	0
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22599591G>C	ENST00000403807.3	+	2	419	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	VPREB1_ENST00000302273.2_Missense_Mutation_p.A93P			P12018	VPREB_HUMAN	pre-B lymphocyte 1	94	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CAAAGATGTGGCCAGGAACAG	0.592000													28	48					0	0	0.750413	0	0
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:203455883C>T	ENST00000343110.2	+	3	1150	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	341					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D341D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTTCCATGACTTCTCCTCGG	0.562000													38	63					0	0	0.847076	0	0
PIGZ	80235	broad.mit.edu	37	3	196675122	196675122	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:196675122G>A	ENST00000412723.1	-	3	792	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637000													8	54					0	0	0.435327	0	0
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76211508C>T	ENST00000298832.9	+	16	1557	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TTLL5_ENST00000557636.1_Missense_Mutation_p.P465L|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_5'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.P451L(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGAAAGGGCCAGGGAAGTTG	0.453000													88	120					0	0	0.870114	0	0
ITGB8	3696	broad.mit.edu	37	7	20371504	20371504	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:20371504G>T	ENST00000222573.3	+	1	759	c.75G>T	c.(73-75)tcG>tcT	p.S25S	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	25					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S25S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTCCCGCCTCGTTCCTCTGGG	0.542000													8	39					1.45105e-14	1.6683e-14	0.539581	1	0
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156618623C>T	ENST00000329117.4	+	6	1369	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.H345Y	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	345	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.H345Y(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAATAAGCACAGCCGCTT	0.577000													109	92					0	0	0.870114	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763799	14763799	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:14763799G>T	ENST00000358984.4	+	7	1115	c.935G>T	c.(934-936)gGa>gTa	p.G312V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.G312V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	312								p.G312V(4)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTGGTGGAGGGAACGTCTGCC	0.483000													5	11					0.00116845	0.00119725	0.217242	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:89265822C>G	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													37	180					0	0	0.847076	0	0
GPR149	344758	broad.mit.edu	37	3	154138855	154138855	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:154138855C>A	ENST00000389740.2	-	3	1695	c.1596G>T	c.(1594-1596)agG>agT	p.R532S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	532						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R532S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGATTTACTCCTACACCACT	0.368000													8	31					0.00829132	0.0084164	0.361761	1	0
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179599169A>T	ENST00000589042.1	-	52	15606	c.15382T>A	c.(15382-15384)Tct>Act	p.S5128T	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3884T|TTN_ENST00000591111.1_Missense_Mutation_p.S4811T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4811	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3884T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGAGACTTCTGAGAA	0.393000													58	240					0	0	0.870114	0	0
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:41410526A>G	ENST00000551295.2	+	19	2344	c.2227A>G	c.(2227-2229)Ata>Gta	p.I743V	CNTN1_ENST00000347616.1_Missense_Mutation_p.I743V|CNTN1_ENST00000348761.2_Missense_Mutation_p.I732V|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	743	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I743V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTTGGTTACATAGTGGCATT	0.363000													84	146					0	0	0.870114	0	0
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40280324C>A	ENST00000393860.3	-	5	712	c.396G>T	c.(394-396)gcG>gcT	p.A132A	RAB5C_ENST00000346213.4_Silent_p.A132A|CTD-2132N18.3_ENST00000592574.1_Silent_p.A132A|RAB5C_ENST00000547517.1_Silent_p.A165A	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.A132A(2)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTTGTTACCCGCGAGTGCAA	0.587000													25	194					3.65163e-15	4.21204e-15	0.706142	1	0
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:49754596G>C	ENST00000304801.3	-	1	457	c.305C>G	c.(304-306)gCa>gGa	p.A102G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.A102G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACTTCTGCGCCTACACA	0.532000													156	114					0	0	0.870114	0	0
GGH	8836	broad.mit.edu	37	8	63930053	63930053	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:63930053T>C	ENST00000260118.6	-	8	1236	c.835_splice	c.e8+1	p.E278_splice		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	278	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E278E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATATTACCTTCATTAACAA	0.358000													23	156					0	0	0.667858	0	0
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:656540C>A	ENST00000380907.2	-	1	423	c.405G>T	c.(403-405)cgG>cgT	p.R135R	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	135								p.R135R(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGGGAAGCACCCGCACGGGCA	0.731000													20	13					5.43694e-19	6.46666e-19	0.812448	1	0
SCAF11	9169	broad.mit.edu	37	12	46321290	46321290	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:46321290C>G	ENST00000465950.1	-	1	2458	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	SCAF11_ENST00000549162.1_Missense_Mutation_p.E540Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E732Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E732Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	732					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCAACTTCAGATTCATTT	0.348000													14	361					0	0	0.457914	0	0
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56380893C>A	ENST00000526538.1	-	1	85	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G29V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGAATACCCCAAACAGGAT	0.473000													86	300					3.33393e-45	4.39854e-45	0.870114	1	0
TMTC3	160418	broad.mit.edu	37	12	88588674	88588674	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:88588674C>T	ENST00000266712.6	+	14	2213	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	666						integral to membrane	binding	p.P665S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAATGAAGAGCCACTAGATGC	0.323000													18	112					0	0	0.667858	0	0
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:3651249C>G	ENST00000263087.4	-	17	2220	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	708					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E708Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGATTTCAAAACATAAA	0.542000													3	43					0	0	0.115264	0	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:56140121C>G	ENST00000319441.4	+	9	1508	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	PCK1_ENST00000543666.1_Silent_p.L131L|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000													38	123					0	0	0.870114	0	0
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57649865C>G	ENST00000269834.1	-	3	502	c.117G>C	c.(115-117)gaG>gaC	p.E39D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGTAATTCTCCAGCATCA	0.547000													51	305					0	0	0.870114	0	0
TCL6	27004	broad.mit.edu	37	14	96135899	96135899	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96135899G>T	ENST00000467865.1	+	0	1833				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ttagaagcaaggcacaagtca	0.507000			T	TRA@	T-ALL								12	111					6.72482e-11	7.5235e-11	0.479597	1	0
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:125453184C>A	ENST00000308736.2	-	10	1402	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DHX37_ENST00000544745.1_Missense_Mutation_p.R222M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R435M(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGGAACTGCCTGGATTCCAC	0.602000													21	48					1.32003e-05	1.37959e-05	0.693898	1	0
CENPE	1062	broad.mit.edu	37	4	104067129	104067129	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:104067129G>C	ENST00000265148.3	-	30	4359	c.4270C>G	c.(4270-4272)Ctc>Gtc	p.L1424V	CENPE_ENST00000380026.3_Missense_Mutation_p.L1399V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1424					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GACAATCCGAGCATTTCTATT	0.363000													31	125					0	0	0.788014	0	0
FOLR3	2352	broad.mit.edu	37	11	71850011	71850011	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:71850011G>C	ENST00000445078.2	+	3	366	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	FOLR3_ENST00000456237.1_Missense_Mutation_p.V101L|FOLR3_ENST00000442948.2_Missense_Mutation_p.S58T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	79					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAGTGCAGTCCCTGGAAG	0.572000													7	45					0	0	0.278610	0	0
RNF213	57674	broad.mit.edu	37	17	78265440	78265440	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:78265440G>C	ENST00000582970.1	+	8	1428	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	RNF213_ENST00000456466.1_Missense_Mutation_p.D429H|RNF213_ENST00000319921.4_Missense_Mutation_p.D429H|RNF213_ENST00000508628.2_Missense_Mutation_p.D478H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	429								p.D429H(4)|p.D478H(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTGGGTCATGACCGCGTTCT	0.408000													42	349					0	0	0.870114	0	0
SOS1	6654	broad.mit.edu	37	2	39278356	39278356	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:39278356C>T	ENST00000426016.1	-	7	879	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SOS1_ENST00000428721.2_Missense_Mutation_p.D208N|SOS1_ENST00000395038.2_Missense_Mutation_p.D265N|SOS1_ENST00000402219.2_Missense_Mutation_p.D265N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	265	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.D265N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTACTGTATCTTCTATATGG	0.373000									Noonan syndrome				21	173					0	0	0.654019	0	0
FER1L5	90342	broad.mit.edu	37	2	97368993	97368993	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:97368993C>T	ENST00000457909.1	+	0	5104							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.I1903I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTATTTCATCCAATACAAGC	0.572000													23	91					0	0	0.624587	0	0
ACP5	54	broad.mit.edu	37	19	11687568	11687568	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11687568A>T	ENST00000592828.1	-	5	754	c.352T>A	c.(352-354)Tct>Act	p.S118T	ACP5_ENST00000433365.2_Missense_Mutation_p.S118T|ACP5_ENST00000218758.5_Missense_Mutation_p.S118T|ACP5_ENST00000412435.2_Missense_Mutation_p.S118T|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATCTGGGCAGAGACATTGCCA	0.567000													23	76					0	0	0.717897	0	0
BPIFA4P	317716	broad.mit.edu	37	20	31786021	31786021	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:31786021C>A	ENST00000375465.3	+	0	55					NR_026760.1																						ACCGAAGATGCTGAATGTCTC	0.542000													3	1					0.00909568	0.00921304	0.150653	1	0
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:36614834G>T	ENST00000311485.3	-	2	1046	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	295					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.N295K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCTATCTTGTTGTCCTCTA	0.388000									Familial Hemophagocytic Lymphohistiocytosis				122	420					5.38838e-72	7.36342e-72	0.870114	1	0
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:39448475G>A	ENST00000257408.4	+	4	2226	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	710	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G710E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCTACGGGGCGGCGCAC	0.657000													14	33					0	0	0.520397	0	0
PLS1	5357	broad.mit.edu	37	3	142388273	142388273	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:142388273G>T	ENST00000337777.3	+	3	325	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	PLS1_ENST00000457734.2_Missense_Mutation_p.D38Y|PLS1_ENST00000497002.1_Missense_Mutation_p.D38Y	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D38Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGAACTTCAAGACCTGTTTAA	0.368000													59	214					3.00467e-41	3.93475e-41	0.870114	1	0
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:73962875A>C	ENST00000358602.4	-	27	5252	c.5136T>G	c.(5134-5136)cgT>cgG	p.R1712R	ANKRD17_ENST00000330838.6_Silent_p.R1461R|ANKRD17_ENST00000509867.2_Silent_p.R1599R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.R1712R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTTGCCCACGCTTAGGAC	0.388000													282	494					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77617456G>T	ENST00000521891.2	+	2	1581	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G378V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G378V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G378V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCCGGCTGGCTTTGCCTTC	0.522000										HNSCC(33;0.089)			12	16					4.3838e-07	4.67143e-07	0.435327	1	0
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76216217A>T	ENST00000370841.4	+	10	1368	c.931A>T	c.(931-933)Aag>Tag	p.K311*	ACADM_ENST00000370834.5_Nonsense_Mutation_p.K344*|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Nonsense_Mutation_p.K275*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.K315*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.K122*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	311					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.K311*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AACTTTCGGAAAGCTACTTGT	0.333000													8	48					0	0	0.335167	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:128651782G>A	ENST00000281154.4	+	1	250	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	28					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.G28R(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCTGGCCGGCGGAGTCGCGGC	0.602000													36	29					0	0	0.870114	0	0
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:15366997C>G	ENST00000263377.2	-	9	1850	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	BRD4_ENST00000371835.4_Missense_Mutation_p.K543N|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.K543N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	543	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.K543N(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tcttttccttcttgtctttct	0.433000			T	C15orf55	lethal midline carcinoma of young people								3	16					0	0	0.115264	0	0
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:108502082G>T	ENST00000368986.4	+	7	1519	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V308L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.V271L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTTACAAGAGGTGGTGGCTCG	0.423000													35	55					2.32173e-10	2.58316e-10	0.804634	1	0
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:75565368G>C	ENST00000299641.4	-	9	2324	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512000													3	31					0	0	0.150653	0	0
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50549823G>A	ENST00000595661.1	+	6	2618	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G708E|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G708E|ZNF473_ENST00000445728.3_Missense_Mutation_p.G696E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.G708E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AACGAATGCGGGAAAACGTTC	0.483000													30	187					0	0	0.779181	0	0
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:121098917G>A	ENST00000453000.1	+	5	1303	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CABP1_ENST00000316803.3_Missense_Mutation_p.R328Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R125Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R185Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	328	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.R185Q(2)|p.R328Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGAGCTGCGAGAGGCTATG	0.542000													19	89					0	0	0.592651	0	0
C12orf44	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52467573A>G	ENST00000336854.4	+	3	617	c.139A>G	c.(139-141)Att>Gtt	p.I47V		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	47				I -> T (in Ref. 1; BAB13907).	autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	p.I47V(3)		endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACCTACTCCATTGGCACCGT	0.587000													17	23					0	0	0.539581	0	0
JAK1	3716	broad.mit.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:65321352C>G	ENST00000342505.4	-	11	1736	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGAAAGTTCTTGAACTGCT	0.502000			Mis		ALL								4	33					0	0	0.217242	0	0
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:4747357T>C	ENST00000545990.2	-	4	530	c.6A>G	c.(4-6)tcA>tcG	p.S2S	AKAP3_ENST00000228850.1_Silent_p.S2S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S2S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAACCTTTTCTGACATCTGGA	0.428000													63	253					0	0	0.870114	0	0
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:99997442C>T	ENST00000520429.1	-	9	985	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CCNC_ENST00000523985.1_Silent_p.V95V|CCNC_ENST00000369220.4_Silent_p.V179V|CCNC_ENST00000518714.1_Silent_p.V180V|CCNC_ENST00000520371.1_Silent_p.V180V|CCNC_ENST00000523799.1_Silent_p.V95V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	180					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.V180V(2)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGTATCATTCACTATCCTCC	0.363000													33	144					0	0	0.796494	0	0
EEPD1	80820	broad.mit.edu	37	7	36336752	36336752	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:36336752T>C	ENST00000242108.4	+	7	2184	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P	EEPD1_ENST00000534978.1_Missense_Mutation_p.L489P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	489					DNA repair		DNA binding	p.L489P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCGAAGTCTCTGGACAACATC	0.463000													58	124					0	0	0.870114	0	0
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:169632775G>T	ENST00000366787.3	-	13	2165	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	639	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.A639D(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCGTCTTGGCTGCTTCCAG	0.597000													14	21					5.03518e-11	5.6466e-11	0.557998	1	0
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31011704C>T	ENST00000409316.1	+	4	481	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.F133F|GHRHR_ENST00000326139.2_Silent_p.F197F			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	235					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.F197F(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACTGCAGCTTCTCCACTGTAA	0.582000													7	34					0	0	0.278610	0	0
CEP152	22995	broad.mit.edu	37	15	49059596	49059596	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49059596C>T	ENST00000380950.2	-	16	2270	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CEP152_ENST00000399334.3_Missense_Mutation_p.A695T|CEP152_ENST00000325747.5_Missense_Mutation_p.A602T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	695					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGCTTTGCTAATAGGCTT	0.438000													46	107					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110457536G>A	ENST00000378402.5	+	38	5542	c.5438G>A	c.(5437-5439)aGt>aAt	p.S1813N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1813	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1815N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTGTTAGTGTTGTGGTG	0.468000										HNSCC(38;0.096)			90	210					0	0	0.870114	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:241439489C>A	ENST00000391987.1	-	15	2791	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E579*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E588*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E585*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E809*|ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E570*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E898*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E711*			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							zinc ion binding	p.E809*(2)|p.E585*(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGAACGTCTCGCGCTCTGCT	0.677000													5	4					0.00198382	0.00202246	0.248553	1	0
MYH4	4622	broad.mit.edu	37	17	10361031	10361031	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:10361031A>G	ENST00000255381.2	-	16	1713	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	535	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S535P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTAGGATGGAGAAGATGCCC	0.403000													40	236					0	0	0.870114	0	0
EP400	57634	broad.mit.edu	37	12	132546780	132546780	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:132546780C>T	ENST00000333577.4	+	47	8227	c.8118C>T	c.(8116-8118)gtC>gtT	p.V2706V	EP400_ENST00000332482.4_Silent_p.V2633V|EP400_ENST00000389561.2_Silent_p.V2670V|EP400_ENST00000330386.6_Silent_p.V2589V|EP400_ENST00000389562.2_Silent_p.V2669V			Q96L91	EP400_HUMAN	E1A binding protein p400	2706	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2669V(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)		TTCGAGCGGTCACTTCTGTGA	0.662000													18	134					0	0	0.608945	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:21971203A>C	ENST00000579755.1	-	2	490	c.198T>G	c.(196-198)caT>caG	p.H66Q	CDKN2A_ENST00000579122.1_Missense_Mutation_p.M52R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000494262.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000479692.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000578845.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H107Q|CDKN2A_ENST00000304494.5_Missense_Mutation_p.M52R|CDKN2A_ENST00000497750.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.H66Q			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> Y (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M52K(4)|p.M52R(4)|p.M52fs*2(3)|p.H107Q(2)|p.0(1)|p.V28_V51del(1)|p.H107fs*>68(1)|p.M52fs*68(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCATCATCATGACCTGCCA	0.672000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	4					0	0	0.217242	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357336	49357336	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49357336C>G	ENST00000263265.6	-	11	1659	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	PLEKHA4_ENST00000355496.5_Silent_p.L343L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	368						cytoplasm|membrane	1-phosphatidylinositol binding	p.L368L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ACAACTTGGTCAGCAGCGTCT	0.617000													3	37					0	0	0.150653	0	0
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:43223121C>T	ENST00000255226.6	+	9	1967	c.1151C>T	c.(1150-1152)gCa>gTa	p.A384V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A384V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	384						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A384V(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACATGGAAGCAGCCATCTCC	0.542000													35	167					0	0	0.864702	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60699590G>T	ENST00000005286.4	+	7	1503	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q449H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	449						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q450H(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAACACACAGGTCCTGCAGG	0.622000													12	24					7.93312e-07	8.4282e-07	0.457914	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530479	140530479	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140530479T>A	ENST00000231136.1	+	1	641	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L78Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L214Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGCGCTGGATGGCGGG	0.597000													9	30					0	0	0.411799	0	0
DERA	51071	broad.mit.edu	37	12	16189195	16189195	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:16189195C>A	ENST00000428559.2	+	8	992	c.780C>A	c.(778-780)cgC>cgA	p.R260R	DERA_ENST00000526530.1_Silent_p.R172R|DERA_ENST00000532964.1_Silent_p.R217R|DERA_ENST00000532573.1_3'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	260					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GAGGCATCCGCAGTGCAAAGG	0.423000													3	46					0.004672	0.00474589	0.115264	1	0
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:14939210C>T	ENST00000313519.5	+	2	594	c.363C>T	c.(361-363)atC>atT	p.I121I	SUV39H2_ENST00000354919.6_Silent_p.I181I|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	181					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	p.I121I(1)|p.I181I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTCCTGGAATCAGCTTAGTCA	0.363000													27	95					0	0	0.750413	0	0
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22599589T>G	ENST00000403807.3	+	2	417	c.278T>G	c.(277-279)gTg>gGg	p.V93G	VPREB1_ENST00000302273.2_Missense_Mutation_p.V92G			P12018	VPREB_HUMAN	pre-B lymphocyte 1	93	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.V93G(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCAAAGATGTGGCCAGGAAC	0.592000													29	47					0	0	0.760397	0	0
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166211047G>A	ENST00000375437.2	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1089K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTCGTGGATGAAAGTGATTA	0.373000													43	323					0	0	0.870114	0	0
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:15517098G>C	ENST00000382020.4	+	4	717	c.509G>C	c.(508-510)aGa>aCa	p.R170T	TUSC3_ENST00000506802.1_Missense_Mutation_p.R170T|TUSC3_ENST00000509380.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503731.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503191.1_3'UTR	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	170					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R170T(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GACCTCCAAAGAATTGGATTT	0.393000													20	101					0	0	0.639603	0	0
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:217234937C>T	ENST00000273067.4	-	1	1813	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	16						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.C16Y(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGCCGGAGCAGCAGCACCA	0.617000													5	8					0	0	0.248553	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205667	36205667	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:36205667C>T	ENST00000392197.2	+	3	457	c.139C>T	c.(139-141)Cta>Tta	p.L47L	ZBTB32_ENST00000262630.3_Silent_p.L47L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	47	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.L47L(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGTGCTAGCAGGTGT	0.622000													6	19					0	0	0.248553	0	0
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:14077445C>T	ENST00000254325.4	-	13	2085	c.1851_splice	c.e13+1	p.E617_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	617					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E617E(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCACCCTACCTCACAGTGTT	0.677000													3	5					0	0	0.115264	0	0
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:48758546A>C	ENST00000218224.4	+	2	401	c.147A>C	c.(145-147)ccA>ccC	p.P49P	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000247140.4_Silent_p.P49P|PQBP1_ENST00000396763.1_Silent_p.P49P|PQBP1_ENST00000376566.4_Silent_p.P49P|PQBP1_ENST00000376563.1_Silent_p.P49P|PQBP1_ENST00000376548.5_Silent_p.P49P|PQBP1_ENST00000447146.2_Silent_p.P49P	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	p.P49P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AGGGCCTACCACCAAGCTGGT	0.557000													4	16					0	0	0.150653	0	0
CFHR2	3080	broad.mit.edu	37	1	196928128	196928128	+	Missense_Mutation	SNP	G	G	C	rs144918980		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:196928128G>C	ENST00000367415.4	+	5	845	c.731G>C	c.(730-732)gGa>gCa	p.G244A	CFHR2_ENST00000367421.3_Missense_Mutation_p.G244A|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	244	Sushi 4.					extracellular region		p.G244A(1)|p.G244E(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGTAAATCTGGATATCATCCA	0.308000													18	82					0	0	0.639603	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422835	1422835	+	Silent	SNP	C	C	T	rs145829351	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:1422835C>T	ENST00000381524.3	+	11	1152	c.966C>T	c.(964-966)ctC>ctT	p.L322L	CSF2RA_ENST00000432318.2_Silent_p.L322L|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381509.3_Silent_p.L322L|CSF2RA_ENST00000417535.2_Silent_p.L356L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Silent_p.L189L|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000381529.3_Silent_p.L322L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	322						extracellular region|integral to plasma membrane	cytokine receptor activity	p.L322L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGGGAACCTCGGCTCTGTGT	0.507000													7	140					0	0	0.307466	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:24359024G>T	ENST00000175238.6	+	20	2226	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G487*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G715*|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000													75	138					6.09681e-45	8.03618e-45	0.870114	1	0
LINC01098	285501	broad.mit.edu	37	4	178897030	178897030	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:178897030C>T	ENST00000507870.1	+	5	695	c.233C>T	c.(232-234)tCa>tTa	p.S78L															p.S78L(4)		lung(8)|prostate(1)	9						TTGAGCAAGTCAATGTATGTT	0.403000													40	126					0	0	0.864702	0	0
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56949837G>C	ENST00000497933.1	+	1	617	c.470G>C	c.(469-471)cGc>cCc	p.R157P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127						integral to membrane		p.R157P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGCCAAGCGCTTGGCACAC	0.577000													7	14					0	0	0.278610	0	0
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:135651315G>T	ENST00000513104.1	-	3	1215	c.933C>A	c.(931-933)atC>atA	p.I311I	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	311					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.I311I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCGAGTTTGATCCGGCTCA	0.517000													21	67					6.12954e-19	7.2843e-19	0.681144	1	0
CYP3A7	1551	broad.mit.edu	37	7	99318002	99318002	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99318002G>A	ENST00000336374.2	-	4	254	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	84					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I84I(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CGGGATCTGTGATAGCCAGCA	0.403000													40	882					0	0	0.827153	0	0
USP1	7398	broad.mit.edu	37	1	62910485	62910485	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:62910485C>G	ENST00000339950.4	+	6	1449	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	USP1_ENST00000371146.1_Missense_Mutation_p.Q212E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	212					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q212E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAAACATTCAAGAAACATG	0.338000													11	35					0	0	0.361761	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54675174C>G	ENST00000546500.1	+	2	635	c.20C>G	c.(19-21)cCt>cGt	p.P7R	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P7R|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P7R|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P7R			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.P7R(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTCTAGTCTCCTAAAGAGCCC	0.483000													9	60					0	0	0.361761	0	0
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31538717G>A	ENST00000286808.3	-	1	254	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	73					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L73L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGCAGGCGGGAGAGCCAACA	0.552000													36	95					0	0	0.853193	0	0
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:31425212T>G	ENST00000373747.3	-	16	2694		c.e16-2		PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000423018.2_Splice_Site|PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000257075.5_Splice_Site|PUM1_ENST00000440538.2_Splice_Site	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGAATGAATCTGAAGTACAAA	0.473000													43	114					0	0	0.870114	0	0
UFL1	23376	broad.mit.edu	37	6	96997630	96997630	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:96997630G>T	ENST00000369278.4	+	15	1839	c.1773G>T	c.(1771-1773)tcG>tcT	p.S591S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									TCTTAGCTTCGGATTTAATGA	0.398000													165	288					7.82335e-77	1.07429e-76	0.870114	1	0
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:21723442G>A	ENST00000328843.6	+	33	5553	c.5522G>A	c.(5521-5523)cGt>cAt	p.R1841H	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443000									Kartagener syndrome				97	1126					0	0	0.870114	0	0
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30667605G>C	ENST00000534862.1	+	7	760	c.397G>C	c.(397-399)Gac>Cac	p.D133H	HCK_ENST00000375862.2_Missense_Mutation_p.D152H|HCK_ENST00000375852.2_Missense_Mutation_p.D153H|HCK_ENST00000538448.1_Missense_Mutation_p.D132H|HCK_ENST00000520553.1_Missense_Mutation_p.D132H|HCK_ENST00000518730.1_Missense_Mutation_p.D131H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	153	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D153H(2)|p.D132H(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCCGGAAGGACGCAGAGCG	0.587000													8	37					0	0	0.335167	0	0
HGD	3081	broad.mit.edu	37	3	120352002	120352002	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:120352002C>A	ENST00000283871.5	-	13	1639	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	394					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.G394C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCATGGTGCCATCGGCAATC	0.542000													22	89					3.08376e-08	3.33386e-08	0.654019	1	0
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	T	G	rs142691296		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57958297T>G	ENST00000325752.3	-	4	772	c.495A>C	c.(493-495)tcA>tcC	p.S165S	TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000592426.1_Silent_p.S165S|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000340993.6_Silent_p.S165S|TUBD1_ENST00000376094.4_Silent_p.S165S|TUBD1_ENST00000394239.3_Silent_p.S165S	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.S165S(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTTTCAATGAGTTTGAGT	0.343000													112	252					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:70681521T>G	ENST00000377844.4	-	1	1070	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	104					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q104P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCCCTTGCTGCAGCCTCGT	0.597000													22	21					0	0	0.681144	0	0
ZNF713	349075	broad.mit.edu	37	7	55990965	55990965	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55990965G>C	ENST00000429591.2	+	2	197	c.159G>C	c.(157-159)agG>agC	p.R53S	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.R53S	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGAACTACAGGAATCTAGTTG	0.512000													136	385					0	0	0.870114	0	0
CTSK	1513	broad.mit.edu	37	1	150772099	150772099	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150772099C>T	ENST00000271651.3	-	6	815	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	235					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	p.L235L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCTCTTCAGGGCTTTCT	0.517000													15	379					0	0	0.500413	0	0
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:22807148G>T	ENST00000361524.3	-	4	882	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ZNF521_ENST00000584787.1_Missense_Mutation_p.T25N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T245N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.T245N(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACTTCTGAGTGTCCTTCAT	0.532000			T	PAX5	ALL								110	228					3.85429e-70	5.25687e-70	0.870114	1	0
EPYC	1833	broad.mit.edu	37	12	91365646	91365646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:91365646G>T	ENST00000261172.3	-	5	725	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	211					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.T211K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ATGTCAAAGTGGTTGGCAATT	0.368000													23	38					6.32553e-13	7.20224e-13	0.681144	1	0
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:75107651G>A	ENST00000290573.2	+	10	2125	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	HK2_ENST00000409174.1_Missense_Mutation_p.V481I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAGTGCCCCCGTCAAGATGCT	0.597000													14	80					0	0	0.479597	0	0
TTN	7273	broad.mit.edu	37	2	179640848	179640848	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179640848C>G	ENST00000589042.1	-	28	5967	c.5743G>C	c.(5743-5745)Gaa>Caa	p.E1915Q	TTN_ENST00000460472.2_Missense_Mutation_p.E1869Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1915Q|TTN_ENST00000591111.1_Missense_Mutation_p.E1915Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1869Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1869Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1915Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1633	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1915Q(3)|p.E1869Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGATTTTCCGCGGTGACC	0.463000													118	715					0	0	0.870114	0	0
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:31089993C>T	ENST00000359202.3	-	1	177	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627000													23	48					0	0	0.740014	0	0
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:193364866A>G	ENST00000361510.2	+	19	2001	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	OPA1_ENST00000392438.3_Silent_p.L534L|OPA1_ENST00000361908.3_Silent_p.L571L|OPA1_ENST00000361828.2_Silent_p.L552L|OPA1_ENST00000361150.2_Silent_p.L535L|OPA1_ENST00000361715.2_Silent_p.L553L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	534			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.L589L(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAGCATGCTAAAGGCACACC	0.368000													86	50					0	0	0.870114	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886918	47886918	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:47886918G>C	ENST00000396105.1	-	3	1677	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	ZNFX1_ENST00000371754.4_Silent_p.L477L|ZNFX1_ENST00000371752.1_Silent_p.L477L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	477							metal ion binding	p.L477L(2)|p.L281L(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTCGGCAGAGATCTTCCT	0.483000													42	136					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475993	25475993	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:25475993G>T	ENST00000453082.2	+	0	1523				SNORD115-33_ENST00000363723.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCG	0.537000													10	78					3.07112e-06	3.2336e-06	0.387290	1	0
NCAM1	4684	broad.mit.edu	37	11	113103046	113103046	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113103046C>G	ENST00000316851.7	+	10	1365	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.I337M|NCAM1_ENST00000401611.2_Missense_Mutation_p.I464M	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	465	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.I464M(2)|p.I455M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATATCAAGATCTACAACACCC	0.527000													14	206					0	0	0.539581	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	G	T	rs149030409		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:117491979G>T	ENST00000393203.2	+	4	1145	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGTTGGCGCGGCTTGACCGT	0.577000													81	117					2.96794e-49	3.96755e-49	0.870114	1	0
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143928027C>T	ENST00000220940.1	+	4	488	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	133	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P133L(3)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGCTTCCAGAAGGAACT	0.463000													48	118					0	0	0.870114	0	0
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:5463332C>T	ENST00000345221.3	-	4	1238	c.684G>A	c.(682-684)gaG>gaA	p.E228E	NLRP1_ENST00000572272.1_Silent_p.E228E|NLRP1_ENST00000354411.3_Silent_p.E228E|NLRP1_ENST00000262467.5_Silent_p.E228E|NLRP1_ENST00000577119.1_Silent_p.E228E|NLRP1_ENST00000269280.4_Silent_p.E228E|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488000													3	21					0	0	0.248553	0	0
SDK2	54549	broad.mit.edu	37	17	71427711	71427711	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:71427711C>T	ENST00000392650.3	-	11	1410	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	SDK2_ENST00000388726.3_Silent_p.A470A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	470	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)|p.A470A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGTAGGTCCCCGCATCGGAGA	0.632000													23	63					0	0	0.681144	0	0
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53042001C>A	ENST00000309680.3	-	5	1099	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572000													176	406					4.6482e-75	6.37661e-75	0.870114	1	0
MNAT1	4331	broad.mit.edu	37	14	61201638	61201638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:61201638A>T	ENST00000261245.4	+	1	159	c.58A>T	c.(58-60)Aag>Tag	p.K20*	MNAT1_ENST00000539616.2_Nonsense_Mutation_p.K20*|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	20					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.K20*(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CCCCTCCTTGAAGCTGATGGT	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					19	210					0	0	0.693898	0	0
RBM47	54502	broad.mit.edu	37	4	40440598	40440598	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:40440598C>G	ENST00000319592.4	-	4	1022	c.313G>C	c.(313-315)Gac>Cac	p.D105H	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.D67H|RBM47_ENST00000381795.6_Missense_Mutation_p.D105H|RBM47_ENST00000381793.2_Missense_Mutation_p.D105H|RBM47_ENST00000295971.7_Missense_Mutation_p.D105H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	105	RRM 1.					nucleus	nucleotide binding|RNA binding	p.D105H(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGTCAAAGTCCATCATGAGG	0.632000													4	29					0	0	0.217242	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796998	42796998	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:42796998C>T	ENST00000314073.5	+	6	1103	c.927C>T	c.(925-927)gtC>gtT	p.V309V	GLTSCR1L_ENST00000394168.1_Silent_p.V309V					GLTSCR1-like																		CAAATAAAGTCCCAATTAATA	0.388000													27	369					0	0	0.729181	0	0
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:31901508G>A	ENST00000469372.1	+	2	280	c.59G>A	c.(58-60)aGc>aAc	p.S20N	CFB_ENST00000556679.1_Silent_p.E126E|C2_ENST00000299367.5_Silent_p.E188E|CFB_ENST00000456570.1_Silent_p.E126E|C2_ENST00000418949.2_Silent_p.E188E|C2_ENST00000452323.2_Silent_p.E65E|C2_ENST00000442278.2_Silent_p.E56E|CFB_ENST00000477310.1_Intron					complement component 2									p.E188E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTTCGGAGCGGGAGTGCC	0.647000													14	11					0	0	0.539581	0	0
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113286152A>T	ENST00000362072.3	-	5	1058	c.714T>A	c.(712-714)gcT>gcA	p.A238A	DRD2_ENST00000346454.3_Silent_p.A238A|DRD2_ENST00000544518.1_Silent_p.A237A|DRD2_ENST00000538967.1_Silent_p.A238A|DRD2_ENST00000355319.2_Silent_p.A238A|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.A238A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	238	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTTAGTGGAGCCCTCAGGT	0.572000													71	208					0	0	0.870114	0	0
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248059305G>T	ENST00000537741.1	+	3	674	c.417G>T	c.(415-417)agG>agT	p.R139S	OR2W3_ENST00000360358.3_Missense_Mutation_p.R139S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAACCCCAGGCTCTGCCGGG	0.627000													44	80					5.7616e-29	7.17914e-29	0.870114	1	0
OR10A4	283297	broad.mit.edu	37	11	6897968	6897968	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6897968C>T	ENST00000379829.2	+	1	113	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGTTTCTCCTTTTCTTGA	0.443000													116	481					0	0	0.870114	0	0
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219000386C>A	ENST00000318507.2	+	3	1289	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592000													70	71					1.52496e-24	1.85756e-24	0.870114	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:65676637G>T	ENST00000352385.2	-	20	3672	c.3463C>A	c.(3463-3465)Cct>Act	p.P1155T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1155						integral to membrane|plasma membrane		p.P1155T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCCTCAGGCTCCAGGTCT	0.612000													24	32					5.45024e-15	6.27644e-15	0.654019	1	0
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	C	G	rs12298510		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:21981911C>G	ENST00000261200.4	-	29	3649	c.3650G>C	c.(3649-3651)aGa>aCa	p.R1217T	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1181T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1217T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1217	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1217T(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCAGCCATCTGTTGGCAGC	0.418000													116	322					0	0	0.870114	0	0
LRRC40	55631	broad.mit.edu	37	1	70639173	70639173	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:70639173T>A	ENST00000370952.3	-	9	1165	c.1086A>T	c.(1084-1086)ctA>ctT	p.L362L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	362								p.L362L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTAGATATTTTAGGACTTCTT	0.303000													22	91					0	0	0.750413	0	0
TTLL4	9654	broad.mit.edu	37	2	219617846	219617846	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219617846C>T	ENST00000392102.1	+	18	3536	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	TTLL4_ENST00000457313.1_Silent_p.L901L|TTLL4_ENST00000442769.1_Silent_p.L1002L|TTLL4_ENST00000258398.4_Silent_p.L1066L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1066					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGAGTAGATCTGCTCCGGAG	0.498000													18	704					0	0	0.639603	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:55407437C>A	ENST00000341048.4	-	10	1289	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D337Y|ANKRD55_ENST00000434982.2_Missense_Mutation_p.D92Y	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	379								p.D380Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTGATGATGTCATTGACTTCT	0.463000													106	476					1.55193e-37	2.00263e-37	0.870114	1	0
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:3726108G>A	ENST00000252505.3	+	4	297	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64							allantoicase activity	p.W45*(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGAAATGGATGGATGGCT	0.463000										HNSCC(21;0.051)			54	71					0	0	0.870114	0	0
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463000													127	367					0	0	0.870114	0	0
FGD3	89846	broad.mit.edu	37	9	95773525	95773525	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:95773525A>T	ENST00000375482.3	+	8	1502	c.1006A>T	c.(1006-1008)Aac>Tac	p.N336Y	FGD3_ENST00000337352.6_Missense_Mutation_p.N336Y|FGD3_ENST00000416701.2_Missense_Mutation_p.N336Y	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	336	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.N336Y(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CACAGCCGCCAACCACTCCAA	0.637000													8	121					0	0	0.387290	0	0
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:168106754G>T	ENST00000409195.1	+	9	8941	c.8852G>T	c.(8851-8853)cGt>cTt	p.R2951L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2729L|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2951L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2776					actin cytoskeleton organization	cell junction	actin binding	p.R2951L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAGAAAACGTGAAGAACTG	0.373000													167	241					3.77185e-81	5.2098e-81	0.870114	1	0
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:8425882G>A	ENST00000337907.3	-	14	2071	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.S211S|RERE_ENST00000400907.2_Silent_p.S479S|RERE_ENST00000400908.2_Silent_p.S479S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	479					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S479S(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGAATTCACTGGACGGGGGTC	0.637000													26	21					0	0	0.760397	0	0
DST	667	broad.mit.edu	37	6	56483314	56483314	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:56483314G>T	ENST00000370765.6	-	23	5625	c.5518C>A	c.(5518-5520)Cgt>Agt	p.R1840S	DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413000													202	180					5.83862e-134	8.16021e-134	0.870114	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535364	90535364	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:90535364C>G	ENST00000602681.1	+	0	1268																											GCCTCCACCCCACCACCAGGC	0.607000													123	159					0	0	0.870114	0	0
OR5H14	403273	broad.mit.edu	37	3	97868843	97868843	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:97868843C>G	ENST00000437310.1	+	1	674	c.614C>G	c.(613-615)tCa>tGa	p.S205*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S205*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGCAGGTTCAATTCAAGTT	0.299000													9	85					0	0	0.307466	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105408231G>A	ENST00000333244.5	-	7	13676	c.13557C>T	c.(13555-13557)gaC>gaT	p.D4519D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus		p.D4519D(2)		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)			GGACCTCCAGGTCGGCGGAAG	0.622000													6	23					0	0	0.278610	0	0
MAZ	4150	broad.mit.edu	37	16	29819948	29819948	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:29819948G>A	ENST00000219782.6	+	4	1271	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.E366K|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000322945.6_Missense_Mutation_p.E389K|MAZ_ENST00000562337.1_Missense_Mutation_p.E84K|MAZ_ENST00000569978.1_5'UTR	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	389					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.E389K(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTACGACACGAGGAGAAAGT	0.582000													12	4					0	0	0.500413	0	0
LILRP2	79166	broad.mit.edu	37	19	55221965	55221965	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55221965G>A	ENST00000413439.1	+	0	1492																											TGACCCTGCTGTGTCAGTCAC	0.622000													19	83					0	0	0.575678	0	0
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:45004705A>T	ENST00000429094.2	-	14	1997	c.1493T>A	c.(1492-1494)tTa>tAa	p.L498*	NELL2_ENST00000395487.2_Nonsense_Mutation_p.L497*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.L521*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.L548*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.L498*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	498	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.L548*(2)|p.L498*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTGAAGCATAAAGCATTTTC	0.388000													150	276					0	0	0.870114	0	0
MRPL45	84311	broad.mit.edu	37	17	36453205	36453205	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:36453205G>T	ENST00000312513.5	+	1	217	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	19					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	p.W19L(2)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGCTGGTGGTTTCGGCAG	0.572000													5	46					0.00116845	0.00119725	0.217242	1	0
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156554719G>T	ENST00000368236.3	+	7	1338	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	TTC24_ENST00000368237.3_Missense_Mutation_p.E434D|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434							binding	p.E434D(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGCGGAGGGGACCCCAG	0.612000													13	13					4.7546e-09	5.19185e-09	0.500413	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110030427	110030427	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:110030427G>A	ENST00000369870.3	+	5	715		c.e5+1			NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2									p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGATGGCTCGTGAGTAGTTG	0.592000													5	14					0	0	0.217242	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152726	100152726	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:100152726T>A	ENST00000370575.4	-	9	948	c.900A>T	c.(898-900)acA>acT	p.T300T	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	300							oxidoreductase activity	p.T300T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGCTCCATGTGTGGTGGCTG	0.572000													8	120					0	0	0.307466	0	0
IBA57	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:228363178A>G	ENST00000366711.3	+	3	1037	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	IBA57_ENST00000546123.1_Silent_p.A152A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTAGCCGCATCTGTGCCAG	0.647000													7	9					0	0	0.335167	0	0
ANGPT1	284	broad.mit.edu	37	8	108315484	108315484	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:108315484A>G	ENST00000520734.1	-	4	605	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.M106T			Q15389	ANGP1_HUMAN	angiopoietin 1	307					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.M307T(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGGTTCTGGCATATTATTAAT	0.348000													42	47					0	0	0.870114	0	0
EPHA7	2045	broad.mit.edu	37	6	94068026	94068026	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:94068026A>C	ENST00000369303.4	-	4	1120	c.936T>G	c.(934-936)tgT>tgG	p.C312W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	312	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C312W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCCATCTTCACATTCACATC	0.458000													10	86					0	0	0.387290	0	0
ZNF407	55628	broad.mit.edu	37	18	72346391	72346391	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:72346391C>G	ENST00000299687.5	+	1	3416	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C	ZNF407_ENST00000577538.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1139C|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1139C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1139C(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAGATATGTCTAAAGTGCTC	0.358000													9	40					0	0	0.335167	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767922	41767922	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:41767922C>T	ENST00000379483.3	-	1	780	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	158							protein binding	p.E158K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCACAGGCTTCCCGCACATAT	0.572000													7	144					0	0	0.335167	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870200	36870200	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36870200G>A	ENST00000279024.4	-	3	604	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCCTCCTGGGGCTCCACTT	0.557000													52	308					0	0	0.870114	0	0
TBCE	6905	broad.mit.edu	37	1	235612020	235612020	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:235612020A>C	ENST00000543662.1	+	18	1786	c.1680A>C	c.(1678-1680)ctA>ctC	p.L560L	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L509L|TBCE_ENST00000366601.3_Silent_p.L509L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	509					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.L509L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATGACCTAAAGTCATTAC	0.393000													15	77					0	0	0.539581	0	0
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:37098576C>T	ENST00000300105.6	-	1	1027	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	16					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G16S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGAAAGCACCAACGGTGGTT	0.473000													127	194					0	0	0.870114	0	0
KCNB2	9312	broad.mit.edu	37	8	73480521	73480521	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:73480521G>C	ENST00000523207.1	+	2	1140	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	184					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E184D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGCTGGAGAAACCTAACT	0.458000													78	421					0	0	0.870114	0	0
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166930006T>A	ENST00000423058.2	-	1	143	c.126A>T	c.(124-126)aaA>aaT	p.K42N	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K42N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K42N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K42N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	42						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K42N(4)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCGTCATCTTTTTTGTCTG	0.443000													293	208					0	0	0.870114	0	0
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								31	186					0	0	0.812448	0	0
VWA8	23078	broad.mit.edu	37	13	42293845	42293845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:42293845G>A	ENST00000379310.3	-	26	3066	c.2998C>T	c.(2998-3000)Cga>Tga	p.R1000*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.R1000*	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.R1000*(2)									AACACATTTCGAACTACACTG	0.333000													13	68					0	0	0.457914	0	0
DLGAP5	9787	broad.mit.edu	37	14	55644032	55644032	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:55644032C>T	ENST00000247191.2	-	8	1013	c.797G>A	c.(796-798)aGt>aAt	p.S266N	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S266N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	266					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.S266N(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATTTTCTTCACTATCGACTTT	0.323000													7	87					0	0	0.248553	0	0
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58491902G>T	ENST00000344743.3	-	2	209	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	GLYAT_ENST00000529732.1_Missense_Mutation_p.P23Q|GLYAT_ENST00000278400.3_Missense_Mutation_p.P23Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	23					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.P23Q(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAAGGATGCTGGGAGGCTCTT	0.443000													41	186					1.63429e-32	2.06922e-32	0.870114	1	0
AURKC	6795	broad.mit.edu	37	19	57744834	57744834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57744834G>T	ENST00000302804.7	+	5	628	c.442G>T	c.(442-444)Gag>Tag	p.E148*	AURKC_ENST00000448930.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.E145*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.E129*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	148	Protein kinase.		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E114*(1)|p.E148*(1)|p.E114Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGATAATAGAGGAGTTGGC	0.478000													15	77					6.31663e-08	6.80808e-08	0.479597	1	0
GABRG3	2567	broad.mit.edu	37	15	27765258	27765258	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:27765258A>T	ENST00000333743.6	+	7	1107	c.853A>T	c.(853-855)Aga>Tga	p.R285*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	285					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R285*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TACGCCAGCAAGAACAGCATT	0.343000													3	31					0	0	0.115264	0	0
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:89449995C>A	ENST00000539437.1	-	5	514	c.378G>T	c.(376-378)cgG>cgT	p.R126R	MFGE8_ENST00000566497.1_Silent_p.R134R|MFGE8_ENST00000268151.7_Silent_p.R134R|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000542878.1_Silent_p.R90R|MFGE8_ENST00000268150.8_Silent_p.R134R			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	134	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.R134R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCACATCCTCCGCAGCAGGT	0.587000													17	34					8.10497e-08	8.72891e-08	0.592651	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:140995104C>A	ENST00000285879.4	+	4	2200	c.1914C>A	c.(1912-1914)tcC>tcA	p.S638S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638							protein binding	p.S638S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATCCAGTCTTCCCC	0.567000										HNSCC(15;0.026)			75	237					5.78178e-49	7.7218e-49	0.870114	1	0
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:3649416C>T	ENST00000378295.4	+	14	1839	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TP73_ENST00000378280.1_3'UTR|TP73_ENST00000604479.1_Missense_Mutation_p.R466C|TP73_ENST00000378288.4_Missense_Mutation_p.R513C|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000346387.4_Missense_Mutation_p.R466C|TP73_ENST00000357733.3_Missense_Mutation_p.R481C|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.R481C|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000378290.4_Missense_Mutation_p.R491C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	562					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.R562C(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCAGCTGCTCCGCTCTAGCAA	0.682000													4	3					0	0	0.278610	0	0
UNC79	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94083609C>T	ENST00000553484.1	+	29	4403	c.4249C>T	c.(4249-4251)Cgg>Tgg	p.R1417W	UNC79_ENST00000555664.1_Missense_Mutation_p.R1395W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1218W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1395W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395						integral to membrane		p.R1218W(2)|p.R1417W(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTCACATCCGGCAGATGTG	0.502000													46	186					0	0	0.870114	0	0
KCNV1	27012	broad.mit.edu	37	8	110986364	110986364	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110986364G>T	ENST00000524391.1	-	2	1286	c.254C>A	c.(253-255)cCc>cAc	p.P85H	KCNV1_ENST00000297404.1_Missense_Mutation_p.P85H|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	85						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P85H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGAGGGCTGGGCACGGCGGC	0.677000													6	5					0.00198382	0.00202246	0.248553	1	0
NABP2	79035	broad.mit.edu	37	12	56619478	56619478	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56619478G>C	ENST00000380198.2	+	3	787	c.290_splice	c.e3+1	p.E97_splice	NABP2_ENST00000341463.5_Splice_Site_p.E97_splice|NABP2_ENST00000267023.4_Splice_Site_p.E97_splice					nucleic acid binding protein 2									p.E97Q(1)									GAAGATTGGAGAGTAAGTGCT	0.488000													16	105					0	0	0.575678	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105416868C>G	ENST00000333244.5	-	7	5039	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						nucleus		p.L1640L(2)		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)			GGTCCCCCTCCAGCTGCGCAC	0.602000													8	63					0	0	0.335167	0	0
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:19785946C>T	ENST00000341998.2	-	1	980	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A307T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	307					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A307T(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTGCTTGGGCTTCTGGTGCT	0.378000													33	64					0	0	0.796494	0	0
CCDC135	84229	broad.mit.edu	37	16	57761225	57761225	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000394337.4_Silent_p.L700L|CCDC135_ENST00000336825.8_Silent_p.L635L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	700						cytoplasm		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552000													5	22					0	0	0.248553	0	0
SRCAP	10847	broad.mit.edu	37	16	30732216	30732216	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:30732216G>T	ENST00000262518.4	+	20	3555	c.3170G>T	c.(3169-3171)gGg>gTg	p.G1057V	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057V|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			TCACCTGCCGGGCCCCCGCTT	0.642000													34	91					2.61675e-31	3.30132e-31	0.864702	1	0
NLRP1	22861	broad.mit.edu	37	17	5487022	5487022	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:5487022C>T	ENST00000345221.3	-	1	810	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	NLRP1_ENST00000572272.1_Missense_Mutation_p.A86T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A86T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A86T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A86T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A86T|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	86	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A86T(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTCCTGGGCTTGGGCGCAC	0.682000													5	3					0	0	0.217242	0	0
CLN3	1201	broad.mit.edu	37	16	28493450	28493450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:28493450G>T	ENST00000569430.1	-	15	1851	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	CLN3_ENST00000395653.4_Missense_Mutation_p.F244L|CLN3_ENST00000333496.9_Missense_Mutation_p.F320L|CLN3_ENST00000357806.7_Missense_Mutation_p.F245L|CLN3_ENST00000565316.1_Missense_Mutation_p.F327L|CLN3_ENST00000357857.9_Missense_Mutation_p.F290L|CLN3_ENST00000355477.5_Missense_Mutation_p.F296L|CLN3_ENST00000354630.5_Missense_Mutation_p.F327L|CLN3_ENST00000360019.2_Missense_Mutation_p.F344L|CLN3_ENST00000535392.1_Missense_Mutation_p.F266L|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357076.5_Missense_Mutation_p.F234L|CLN3_ENST00000359984.7_Missense_Mutation_p.F344L|CLN3_ENST00000568224.1_Missense_Mutation_p.F266L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	344					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.F344L(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGGCCCAGGTGAAACGGATGC	0.637000													9	22					0.000219431	0.000226815	0.457914	1	0
TTN	7273	broad.mit.edu	37	2	179407526	179407526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179407526C>A	ENST00000589042.1	-	348	97279	c.97055G>T	c.(97054-97056)cGt>cTt	p.R32352L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23287L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29784L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30711L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23412L|TTN_ENST00000342175.6_Missense_Mutation_p.R23479L|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30711	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R23287L(1)|p.R29784L(1)|p.R23479H(1)|p.R29782H(1)|p.R23412L(1)|p.R23479L(1)|p.R29782L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGTGACACGCTCTGATTC	0.458000													51	272					4.10826e-27	5.07872e-27	0.870114	1	0
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52394608G>C	ENST00000354957.3	-	5	1065	c.781C>G	c.(781-783)Cca>Gca	p.P261A	ZNF649_ENST00000600738.1_Missense_Mutation_p.P233A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTATGGTTTCTCTCCT	0.502000													46	223					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110516641	110516641	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110516641G>T	ENST00000378402.5	+	68	11018	c.10914G>T	c.(10912-10914)caG>caT	p.Q3638H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3638					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q3642H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGATTTACAGCATCCAATCC	0.279000										HNSCC(38;0.096)			37	56					1.13552e-05	1.18939e-05	0.847076	1	0
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1434L(3)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGAAACATCGATATGCCAG	0.537000													179	375					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11038955	11038955	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:11038955G>C	ENST00000470054.1	-	0	1248									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAATGAAAATGATGACTCTGT	0.418000													63	2005					0	0	0.624587	0	0
PRKCG	5582	broad.mit.edu	37	19	54403931	54403931	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:54403931G>T	ENST00000263431.3	+	14	1785	c.1503G>T	c.(1501-1503)atG>atT	p.M501I	PRKCG_ENST00000542049.1_Missense_Mutation_p.M388I|PRKCG_ENST00000540413.1_Missense_Mutation_p.M501I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	501	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.M501I(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTTTGGCATGTGTAAGGAGA	0.587000													112	242					4.0349e-81	5.56768e-81	0.870114	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:55024197A>G	ENST00000324000.3	+	3	2390	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	119					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N119S(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACCAAGAATAGTGTTCGG	0.333000													6	30					0	0	0.248553	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441606	110441606	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110441606T>A	ENST00000378402.5	+	26	3142	c.3038T>A	c.(3037-3039)aTg>aAg	p.M1013K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1013					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.M1015K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGGCTAATATGACAGTTACA	0.338000										HNSCC(38;0.096)			15	36					0	0	0.520397	0	0
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:32438301C>T	ENST00000283365.9	+	15	1684	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512000													14	97					0	0	0.479597	0	0
ZNF860	344787	broad.mit.edu	37	3	32031984	32031984	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:32031984T>A	ENST00000360311.4	+	2	1962	c.1413T>A	c.(1411-1413)atT>atA	p.I471I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I471I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.408000													14	85					0	0	0.500413	0	0
ZPBP	11055	broad.mit.edu	37	7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353000													12	69					0	0	0.411799	0	0
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:117228579G>A	ENST00000362057.3	-	3	1099	c.931C>T	c.(931-933)Cca>Tca	p.P311S	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	311	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.P311S(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGCCTGGGTCCACGCCA	0.602000													39	60					0	0	0.812448	0	0
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54338891A>G	ENST00000243056.3	+	2	1000	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	282						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S282G(2)|p.S282R(1)		breast(1)|large_intestine(1)|skin(1)	3						ATACGCGGCTAGCAAGTTCAT	0.607000			T	NUP98	AML								3	36					0	0	0.184627	0	0
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:118532435G>C	ENST00000529101.1	-	6	573	c.528C>G	c.(526-528)gaC>gaG	p.D176E	TREH_ENST00000525958.1_Intron|TREH_ENST00000530256.1_Missense_Mutation_p.D53E|TREH_ENST00000397925.1_Intron|TREH_ENST00000264029.4_Missense_Mutation_p.D176E			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	176					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.D53E(2)|p.D176E(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CCCAGTAGGAGTCCCTGGGGA	0.632000													19	34					0	0	0.681144	0	0
CREB5	9586	broad.mit.edu	37	7	28848855	28848855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:28848855C>T	ENST00000357727.2	+	9	1468	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q221*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q353*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	360					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q360*(1)|p.Q221*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGCCACCCCAGCCCACAGG	0.637000													9	47					0	0	0.411799	0	0
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:150924904C>A	ENST00000261800.5	-	9	5796	c.5784G>T	c.(5782-5784)ctG>ctT	p.L1928L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1928					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.L1928L(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGGATTCAGCACAGATA	0.478000													48	226					3.28156e-27	4.06028e-27	0.870114	1	0
FN1	2335	broad.mit.edu	37	2	216279643	216279643	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:216279643G>C	ENST00000354785.4	-	13	2227	c.1858C>G	c.(1858-1860)Ccg>Gcg	p.P620A	FN1_ENST00000357867.4_Missense_Mutation_p.P620A|FN1_ENST00000345488.5_Missense_Mutation_p.P620A|FN1_ENST00000336916.4_Missense_Mutation_p.P620A|FN1_ENST00000359671.1_Missense_Mutation_p.P620A|FN1_ENST00000357009.2_Missense_Mutation_p.P620A|FN1_ENST00000432072.2_Missense_Mutation_p.P620A|FN1_ENST00000356005.4_Missense_Mutation_p.P620A|FN1_ENST00000443816.1_Missense_Mutation_p.P620A|FN1_ENST00000446046.1_Missense_Mutation_p.P620A|FN1_ENST00000323926.6_Missense_Mutation_p.P620A|FN1_ENST00000426059.1_Missense_Mutation_p.P620A|FN1_ENST00000346544.3_Missense_Mutation_p.P620A|FN1_ENST00000421182.1_Missense_Mutation_p.P620A			P02751	FINC_HUMAN	fibronectin 1	620	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.P620A(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACTCGGAGTCTCAGTG	0.443000													30	79					0	0	0.769981	0	0
IFI16	3428	broad.mit.edu	37	1	158988421	158988421	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:158988421G>T	ENST00000295809.7	+	5	1207	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	IFI16_ENST00000368131.4_Missense_Mutation_p.G318W|IFI16_ENST00000368132.3_Missense_Mutation_p.G318W|IFI16_ENST00000430894.2_Missense_Mutation_p.G266W|IFI16_ENST00000359709.3_Missense_Mutation_p.G262W|IFI16_ENST00000448393.2_Missense_Mutation_p.G318W|IFI16_ENST00000340979.6_Missense_Mutation_p.G318W			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	318	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.G318W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTGTATATGGGGTATTTAT	0.338000													19	259					4.81078e-24	5.83989e-24	0.639603	1	0
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:119043108C>T	ENST00000334464.5	-	5	3375	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046					intracellular signal transduction		metal ion binding	p.E1046K(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATCAATTTCATTCTGTAGC	0.383000													37	195					0	0	0.804634	0	0
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30232608G>C	ENST00000376075.3	+	5	492	c.417G>C	c.(415-417)cgG>cgC	p.R139R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGACGAGCGGAAAGCCCAGC	0.582000													10	86					0	0	0.479597	0	0
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50540459G>C	ENST00000267845.3	-	10	1525	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	375					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACATGTGCTTGAAGATTCTTC	0.507000													35	114					0	0	0.827153	0	0
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:4199621C>A	ENST00000296358.4	-	5	964	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314					biomineral tissue development	extracellular space|integral to membrane		p.G314C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACTGCGCCCACCATGACC	0.577000													22	42					1.85244e-09	2.04333e-09	0.654019	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	G	T	rs77402299		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140864842G>T	ENST00000306593.1	+	1	102	c.102G>T	c.(100-102)ccG>ccT	p.P34P	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.P34P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACCCGGTCCCAGAGG	0.557000													20	73					1.2644e-06	1.34129e-06	0.592651	1	0
EFCAB13	124989	broad.mit.edu	37	17	45447856	45447856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:45447856G>C	ENST00000331493.2	+	11	1270	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E191Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.E287Q(1)									TGAGCTACAGGAACAGTATGA	0.274000													48	242					0	0	0.870114	0	0
PSG2	5670	broad.mit.edu	37	19	43576091	43576091	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43576091G>T	ENST00000406487.1	-	4	823	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGAATTCTGGGGAGGTCTGG	0.498000													172	329					8.31354e-96	1.15393e-95	0.870114	1	0
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:48761448C>G	ENST00000285238.8	+	28	4173	c.4093C>G	c.(4093-4095)Cag>Gag	p.Q1365E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2.		Q -> R (in dbSNP:rs11568590).		bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.Q1365E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCGCTCTCAGCTGACCAT	0.602000													21	56					0	0	0.667858	0	0
USP50	373509	broad.mit.edu	37	15	50835935	50835935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50835935C>A	ENST00000532404.1	-	3	477	c.304G>T	c.(304-306)Gga>Tga	p.G102*	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	102					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.G107*(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTCTCCCAGCCACATG	0.438000													10	77					1.76689e-08	1.919e-08	0.335167	1	0
ZNF248	57209	broad.mit.edu	37	10	38126615	38126615	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:38126615C>T	ENST00000395867.3	-	5	718	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF248_ENST00000374648.3_Silent_p.V56V|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000357328.4_Silent_p.V56V	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V56V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTTAAAGATCACTTCTGGTT	0.438000													30	97					0	0	0.796494	0	0
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	A	T	rs34236419		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:171715359A>T	ENST00000358196.3	+	16	2117	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	523					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R523W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACAAAGCCTCAGGGGTGTGCC	0.438000													64	68					0	0	0.870114	0	0
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:17431488C>A	ENST00000375486.4	-	2	224	c.161G>T	c.(160-162)cGt>cTt	p.R54L	PADI2_ENST00000444885.2_Missense_Mutation_p.R54L|PADI2_ENST00000375481.1_Missense_Mutation_p.R54L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R54L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCCCCATCACGCACCACCTC	0.662000													12	10					1.15088e-07	1.23383e-07	0.500413	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144854175	144854175	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:144854175G>C	ENST00000369359.4	-	46	7435	c.7397C>G	c.(7396-7398)aCt>aGt	p.T2466S	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T2224S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T2330S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T2415S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T2330S|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2330					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T2330S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTAAGTTAGTCCTTGCCTT	0.468000			T	PDGFRB	MPD								5	128					0	0	0.248553	0	0
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:26242238C>G	ENST00000335473.7	+	19	3790	c.3540C>G	c.(3538-3540)atC>atG	p.I1180M	MYO18B_ENST00000407587.2_Missense_Mutation_p.I1181M|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617000													40	76					0	0	0.870114	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:89916936T>A	ENST00000548729.1	-	3	1684	c.1382A>T	c.(1381-1383)gAc>gTc	p.D461V	POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.D464V|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.D292V|POC1B_ENST00000313546.3_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.D464V(1)									GGGGTTGTTGTCAGGAGAATT	0.403000													3	38					0	0	0.150653	0	0
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:113697836G>C	ENST00000297405.5	-	15	2525	c.2281C>G	c.(2281-2283)Ctt>Gtt	p.L761V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L657V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	199					0	0	0.870114	0	0
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:29609316G>T	ENST00000356870.3	+	12	2107	c.1997G>T	c.(1996-1998)gGg>gTg	p.G666V	PTPRU_ENST00000460170.2_Missense_Mutation_p.G666V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G666V|PTPRU_ENST00000373779.3_Missense_Mutation_p.G666V|PTPRU_ENST00000428026.2_Missense_Mutation_p.G666V|PTPRU_ENST00000345512.3_Missense_Mutation_p.G666V	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G666V(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACTACTTCGGGGCCGAACTG	0.667000													44	45					8.44121e-28	1.04627e-27	0.870114	1	0
CEP350	9857	broad.mit.edu	37	1	179983409	179983409	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:179983409G>A	ENST00000367607.3	+	10	2239	c.1821G>A	c.(1819-1821)agG>agA	p.R607R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	607						centrosome|nucleus|spindle		p.R607R(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGAGGAAAGGAAGAGAAAGC	0.428000													7	80					0	0	0.278610	0	0
MARK1	4139	broad.mit.edu	37	1	220825366	220825366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:220825366G>C	ENST00000402574.1	+	15	2207	c.1205G>C	c.(1204-1206)gGc>gCc	p.G402A	MARK1_ENST00000366918.4_Missense_Mutation_p.G515A|MARK1_ENST00000366917.4_Missense_Mutation_p.G537A	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	537					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G537A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTCTGCAGGCTCTTCTGTG	0.463000													38	192					0	0	0.864702	0	0
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:108714382T>A	ENST00000361189.2	-	4	1045	c.806A>T	c.(805-807)cAa>cTa	p.Q269L	PJA2_ENST00000361557.3_Missense_Mutation_p.Q269L	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	269					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.Q269L(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTATTTTGTTGTTTCGTACT	0.403000													23	67					0	0	0.667858	0	0
NBEA	26960	broad.mit.edu	37	13	36241513	36241513	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:36241513G>T	ENST00000540320.1	+	56	8938	c.8404G>T	c.(8404-8406)Ggc>Tgc	p.G2802C	NBEA_ENST00000379939.2_Missense_Mutation_p.G2799C|NBEA_ENST00000537702.1_Missense_Mutation_p.G595C|NBEA_ENST00000310336.4_Missense_Mutation_p.G2802C|NBEA_ENST00000379922.3_Missense_Mutation_p.G380C|NBEA_ENST00000400445.3_Missense_Mutation_p.G2802C			Q8NFP9	NBEA_HUMAN	neurobeachin	2802						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.G2802C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTGCAGAGGGCCCTTGCCT	0.532000													35	121					6.33695e-27	7.81336e-27	0.834066	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110397826	110397826	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110397826T>G	ENST00000378402.5	+	6	640	c.536T>G	c.(535-537)cTa>cGa	p.L179R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	179	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L179R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATATTGCACTAAGCTCAAAT	0.294000										HNSCC(38;0.096)			26	54					0	0	0.788014	0	0
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:10288575G>A	ENST00000296658.3	-	3	702	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	94						cytosol	hydrolase activity|protein binding	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GCCACTCAGGGAAGATAGACC	0.507000													7	55					0	0	0.307466	0	0
FAT3	120114	broad.mit.edu	37	11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92532943A>G	ENST00000298047.6	+	9	6781	c.6764A>G	c.(6763-6765)aAg>aGg	p.K2255R	FAT3_ENST00000409404.2_Missense_Mutation_p.K2255R|FAT3_ENST00000525166.1_Missense_Mutation_p.K2105R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2255	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K2255R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428000										TCGA Ovarian(4;0.039)			5	49					0	0	0.184627	0	0
OR6K3	391114	broad.mit.edu	37	1	158687653	158687653	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:158687653G>T	ENST00000368146.1	-	1	300	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L85I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L101I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCACTGATGAGGTTGGAGAGC	0.453000													109	841					3.88716e-44	5.11888e-44	0.870114	1	0
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35719611C>T	ENST00000314888.9	-	15	1945	c.1592G>A	c.(1591-1593)tGg>tAg	p.W531*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.W531*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	531					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.W531*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTACGCCAGGCCTTAGA	0.512000													37	136					0	0	0.819951	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163941	93163941	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:93163941C>T	ENST00000344636.3	+	12	1294	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.F370F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATCTTTATTCACATTGCCCG	0.318000													16	153					0	0	0.608945	0	0
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:63543950C>T	ENST00000299178.2	-	1	772	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G223S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACAAAGATGCCGCCCGTCATC	0.617000													43	84					0	0	0.870114	0	0
DIAPH2	1730	broad.mit.edu	37	X	96220166	96220166	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:96220166C>T	ENST00000324765.8	+	17	2357	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	DIAPH2_ENST00000355827.4_Silent_p.L670L|DIAPH2_ENST00000373061.3_Silent_p.L670L|DIAPH2_ENST00000373054.4_Silent_p.L666L|DIAPH2_ENST00000373049.4_Silent_p.L670L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	670	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.L670L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATCCAGATCTCTTTGCCAAAT	0.303000													11	22					0	0	0.479597	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100802561	100802561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:100802561C>G	ENST00000268070.4	-	5	974	c.869G>C	c.(868-870)cGt>cCt	p.R290P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	290	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R290P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTTACGGGACGTTGTCGTAG	0.473000													44	268					0	0	0.870114	0	0
DAGLA	747	broad.mit.edu	37	11	61493493	61493493	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61493493C>G	ENST00000257215.5	+	6	691	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	192					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCAAGCCACCAGCTGGTCG	0.607000													4	39					0	0	0.184627	0	0
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:73567113G>T	ENST00000392550.3	+	17	2225	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	LLGL2_ENST00000167462.5_Missense_Mutation_p.R703L|LLGL2_ENST00000577200.1_Missense_Mutation_p.R703L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	703					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.R703L(4)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATCGAGGCTCGCTCGGCAGAG	0.657000													6	7					3.09899e-07	3.3098e-07	0.307466	1	0
DUSP11	8446	broad.mit.edu	37	2	73993667	73993667	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:73993667G>A	ENST00000272444.3	-	8	854	c.813C>T	c.(811-813)ctC>ctT	p.L271L	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	224					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.L224L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CTGGTTGCATGAGATGTGCTG	0.418000													101	428					0	0	0.870114	0	0
RNF7	9616	broad.mit.edu	37	3	141457240	141457240	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:141457240C>G	ENST00000273480.3	+	1	195	c.57C>G	c.(55-57)agC>agG	p.S19R	RNF7_ENST00000480908.1_Missense_Mutation_p.S19R|RNF7_ENST00000393000.3_Missense_Mutation_p.S19R	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	19					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	p.S19R(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ACTCCGGGAGCTCAGGCTCCA	0.657000													4	17					0	0	0.184627	0	0
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:15928326G>T	ENST00000504595.1	+	3	936	c.455G>T	c.(454-456)cGg>cTg	p.R152L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R140L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R105L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R152L(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGGACCCGCGGCTCTGGAGG	0.662000													4	14					0.00198382	0.00202246	0.248553	1	0
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:8982214G>T	ENST00000397910.4	-	70	42264	c.42061C>A	c.(42061-42063)Cat>Aat	p.H14021N	MUC16_ENST00000380951.5_Missense_Mutation_p.H662N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14046	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H14021N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCATGGGTCTGCTGG	0.632000													116	149					2.51472e-61	3.41008e-61	0.870114	1	0
SLC30A9	10463	broad.mit.edu	37	4	42024921	42024921	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:42024921A>G	ENST00000264451.6	+	5	681	c.501A>G	c.(499-501)gtA>gtG	p.V167V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	167					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.V167V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTTTACTGTATACTTGAGAT	0.323000													52	69					0	0	0.870114	0	0
IFT172	26160	broad.mit.edu	37	2	27706212	27706212	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27706212C>T	ENST00000260570.3	-	7	617	c.514G>A	c.(514-516)Gca>Aca	p.A172T	IFT172_ENST00000359466.6_Missense_Mutation_p.A172T|IFT172_ENST00000416524.2_Missense_Mutation_p.A151T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	172					cilium assembly	cilium	binding	p.A172T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTACCATCTGCATGACCAGAG	0.423000													57	252					0	0	0.870114	0	0
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:39088536T>G	ENST00000295373.6	-	5	1142	c.1016A>C	c.(1015-1017)gAt>gCt	p.D339A	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D339A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAGAATCATCTACACTTCT	0.333000													35	53					0	0	0.840704	0	0
EPHA6	285220	broad.mit.edu	37	3	96962921	96962921	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:96962921T>A	ENST00000389672.5	+	5	1434	c.1396T>A	c.(1396-1398)Tgt>Agt	p.C466S	EPHA6_ENST00000470610.2_Missense_Mutation_p.C466S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	371	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C372S(2)|p.C466S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTAAGAAATGTGGCTTAGA	0.453000													20	168					0	0	0.608945	0	0
LY6K	54742	broad.mit.edu	37	8	143784660	143784660	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143784660A>G	ENST00000292430.6	+	3	786	c.369A>G	c.(367-369)ttA>ttG	p.L123L	LY6K_ENST00000561179.1_Silent_p.L181L|LY6K_ENST00000519387.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	123	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.L181L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTGCAATTTAGAGGGGCCAC	0.532000													18	135					0	0	0.575678	0	0
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:123601254C>T	ENST00000336139.4	-	3	705	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E115K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E115K			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCCTCCTCGCCACTTTCT	0.582000													44	100					0	0	0.870114	0	0
PRDM4	11108	broad.mit.edu	37	12	108134944	108134944	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:108134944T>C	ENST00000228437.5	-	10	2162	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	568					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H568R(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGATGGTTATGGATGTGGCT	0.488000													35	216					0	0	0.870114	0	0
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	C	G	rs140307739		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:1508329C>G	ENST00000381401.5	-	2	1117	c.403G>C	c.(403-405)Gat>Cat	p.D135H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	135					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.D135H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTGGCGAAATCCAGCGGGTAC	0.657000													3	22					0	0	0.150653	0	0
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:1271377G>A	ENST00000447027.1	+	31	13334	c.13276G>A	c.(13276-13278)Gag>Aag	p.E4426K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E4423K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.E4423K(2)|p.E4378K(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCCTCACAGAGCTGACCAC	0.647000													5	25					0	0	0.217242	0	0
OR13G1	441933	broad.mit.edu	37	1	247835786	247835786	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247835786A>G	ENST00000359688.2	-	1	579	c.558T>C	c.(556-558)tgT>tgC	p.C186C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C186C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTACAGGGCTACAGGACAAAG	0.463000													42	252					0	0	0.870114	0	0
IL2	3558	broad.mit.edu	37	4	123372993	123372993	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:123372993C>T	ENST00000226730.4	-	4	660	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	126					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.E126K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TCAGCATATTCACACATGAAT	0.318000			T	TNFRSF17	intestinal T-cell lymphoma								27	106					0	0	0.729181	0	0
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:72123457C>A	ENST00000340726.3	-	17	2271	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	EYA1_ENST00000388742.4_Missense_Mutation_p.R544S|EYA1_ENST00000419131.1_Missense_Mutation_p.R509S|EYA1_ENST00000388740.3_Missense_Mutation_p.R511S|EYA1_ENST00000303824.7_Missense_Mutation_p.R538S|EYA1_ENST00000388743.2_Missense_Mutation_p.R543S|EYA1_ENST00000388741.2_Missense_Mutation_p.R510S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	544					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R544S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358000													93	236					1.83308e-29	2.28811e-29	0.870114	1	0
MEF2D	4209	broad.mit.edu	37	1	156437954	156437954	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156437954G>A	ENST00000348159.4	-	11	1865	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.A455V|MEF2D_ENST00000360595.3_Missense_Mutation_p.A455V|MEF2D_ENST00000353795.3_Missense_Mutation_p.A416V|MEF2D_ENST00000340875.5_Missense_Mutation_p.A461V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	462					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A462V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGGGCGGGCAGCTGGGAA	0.682000													6	49					0	0	0.335167	0	0
NXPE4	54827	broad.mit.edu	37	11	114453161	114453161	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:114453161C>T	ENST00000375478.3	-	3	859	c.679G>A	c.(679-681)Gct>Act	p.A227T	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.A227T(1)									CACAATTCAGCATTTGTGTTT	0.488000													71	517					0	0	0.870114	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:12028689G>C	ENST00000415385.3	+	9	977		c.e9+1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCACATTGGTATGTTTATG	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								93	184					0	0	0.870114	0	0
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:22068796G>T	ENST00000261200.4	-	5	621	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	ABCC9_ENST00000345162.2_Missense_Mutation_p.L208I|ABCC9_ENST00000261201.4_Missense_Mutation_p.L208I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L208I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATCCTGGAGGTCTTCAGGA	0.363000													17	43					3.62473e-10	4.01706e-10	0.608945	1	0
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:15558333T>C	ENST00000344577.2	-	3	578	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	LIPI_ENST00000536861.1_Missense_Mutation_p.I164V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I185V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AATCCACTGATATGAGCCCCT	0.313000													423	233					0	0	0.870114	0	0
UBXN11	91544	broad.mit.edu	37	1	26612443	26612443	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:26612443G>A	ENST00000314675.7	-	5	364	c.285C>T	c.(283-285)gaC>gaT	p.D95D	UBXN11_ENST00000374217.2_Silent_p.D182D|UBXN11_ENST00000436301.2_Silent_p.D140D|UBXN11_ENST00000374222.1_Silent_p.D215D|UBXN11_ENST00000357089.4_Silent_p.D182D|UBXN11_ENST00000374221.3_Silent_p.D215D|UBXN11_ENST00000535108.1_Silent_p.D57D|UBXN11_ENST00000374223.1_5'UTR	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	215						cytoplasm|cytoskeleton		p.D215D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCACTTGGGTGTCACCCTCTA	0.627000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	0.115264	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:128060645C>T	ENST00000254730.6	+	5	1410	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	EEFSEC_ENST00000483457.1_Silent_p.H397H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	452						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.H452H(2)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCTGCTCCACGGGCTAGAGG	0.612000													20	58					0	0	0.639603	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000													114	347					0	0	0.870114	0	0
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:62701953G>T	ENST00000361317.2	+	9	1145	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.G262C	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	262	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G262C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTTCACCTGCGGCAAGTGCAG	0.632000													10	8					1.76689e-08	1.919e-08	0.335167	1	0
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:148802277C>T	ENST00000378061.2	-	4	818	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G229E(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCGGACTTCCCTCTGGACGA	0.532000													21	29					0	0	0.681144	0	0
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:154133184C>T	ENST00000360256.4	-	16	5688	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1830K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTGGTTTCATTAGGCTTG	0.418000													57	110					0	0	0.870114	0	0
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:19491400G>C	ENST00000375267.2	-	32	4407	c.4404C>G	c.(4402-4404)ctC>ctG	p.L1468L	UBR4_ENST00000375226.2_Silent_p.L1468L|UBR4_ENST00000375254.3_Silent_p.L1468L|UBR4_ENST00000375217.2_Silent_p.L1468L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1468					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L1468L(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCGGGTGAGCCAGGCCT	0.567000													81	118					0	0	0.870114	0	0
SLIT3	6586	broad.mit.edu	37	5	168137973	168137973	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:168137973G>A	ENST00000519560.1	-	25	3065	c.2646C>T	c.(2644-2646)gcC>gcT	p.A882A	SLIT3_ENST00000332966.8_Silent_p.A882A|SLIT3_ENST00000404867.3_Silent_p.A882A|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	882	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A882A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTGCAGCGGGCGATGCCAG	0.652000													5	7					0	0	0.217242	0	0
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:26533740C>T	ENST00000333478.6	-	8	2841	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR113_ENST00000541401.1_Silent_p.L555L|GPR113_ENST00000421160.2_Silent_p.L883L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.L952L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L952L(2)|p.L753L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAAGGTCTCAGCAACTTCA	0.582000													7	19					0	0	0.307466	0	0
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:31422674C>A	ENST00000389202.2	+	14	1592	c.1543C>A	c.(1543-1545)Cac>Aac	p.H515N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	515					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H515N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGCAGGGCCACCCCTGGGG	0.622000													139	317					3.97272e-78	5.4712e-78	0.870114	1	0
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:151520208A>C	ENST00000535741.1	-	38	6470	c.5997T>G	c.(5995-5997)ccT>ccG	p.P1999P	LRBA_ENST00000507224.1_Silent_p.P1999P|LRBA_ENST00000357115.3_Silent_p.P1999P|LRBA_ENST00000510413.1_Silent_p.P1999P			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.P1999P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGATCCTAGAGGGTTACGCA	0.502000													31	102					0	0	0.760397	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:67829219T>A	ENST00000433211.1	-	15	2180	c.2006A>T	c.(2005-2007)gAa>gTa	p.E669V	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E669V|CTNNA3_ENST00000373735.1_Missense_Mutation_p.E8V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	669					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.E669V(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTTCTTTTTCTGCCTCAGG	0.348000													56	206					0	0	0.870114	0	0
ADCY10	55811	broad.mit.edu	37	1	167830153	167830153	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:167830153C>G	ENST00000367848.1	-	15	1986	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	ADCY10_ENST00000545172.1_Missense_Mutation_p.D436H|ADCY10_ENST00000367851.4_Missense_Mutation_p.D589H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.D589H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTTTTCATCCAACAGTGTC	0.403000													86	599					0	0	0.870114	0	0
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55846499G>C	ENST00000322678.1	+	1	502	c.502G>C	c.(502-504)Gac>Cac	p.D168H	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D168H(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CGAATTCTGTGACTCCAATGC	0.448000													155	243					0	0	0.870114	0	0
ADCY8	114	broad.mit.edu	37	8	131955633	131955633	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:131955633G>C	ENST00000286355.5	-	4	3409	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	ADCY8_ENST00000377928.3_Silent_p.L439L|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L439L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGCTCGTTGAGCATCCTGA	0.473000										HNSCC(32;0.087)			8	93					0	0	0.335167	0	0
SYT11	23208	broad.mit.edu	37	1	155838184	155838184	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:155838184G>C	ENST00000368324.4	+	2	716	c.463G>C	c.(463-465)Gat>Cat	p.D155H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	155						cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCCAGAGGAGGATGTCATGCT	0.517000													52	463					0	0	0.870114	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:37546891G>T	ENST00000299824.1	+	11	1475	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R387L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	429					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R429L(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGCCTCCGGGCTCCGGTC	0.597000													98	163					7.81258e-50	1.04538e-49	0.870114	1	0
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:156136166G>T	ENST00000329476.3	+	2	1564	c.1075G>T	c.(1075-1077)Gct>Tct	p.A359S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A359S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.A359S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GACATTCAAGGCTAAAAAGAA	0.498000													25	71					2.79863e-10	3.10886e-10	0.681144	1	0
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:49458380C>T	ENST00000358791.5	+	4	532	c.432C>T	c.(430-432)gcC>gcT	p.A144A	BCAS4_ENST00000371608.2_Silent_p.A144A|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	144						cytoplasm		p.A144A(6)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACCATGGGGCCTTCCCTCAGG	0.652000													19	37					0	0	0.654019	0	0
RYR3	6263	broad.mit.edu	37	15	34021153	34021153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:34021153G>T	ENST00000389232.4	+	47	7199	c.7129G>T	c.(7129-7131)Gat>Tat	p.D2377Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D2377Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2377	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D2377Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCATTAAGGATCAAACTTT	0.453000													15	35					3.52763e-06	3.7115e-06	0.520397	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:125298590C>A	ENST00000538699.1	-	2	1398	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.E440*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440								p.E440*(4)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTTCATCTCCGGCCAGTTG	0.577000													23	63					1.2476e-16	1.45091e-16	0.706142	1	0
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15103747G>T	ENST00000378217.3	+	5	534	c.347G>T	c.(346-348)aGa>aTa	p.R116I	OLAH_ENST00000378228.3_Missense_Mutation_p.R63I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	63					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.R116I(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTCCTGGAAGAGAAAGCAGA	0.423000													32	36					2.20262e-25	2.69463e-25	0.769981	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178506897G>C	ENST00000315475.6	+	5	1770	c.1464G>C	c.(1462-1464)agG>agC	p.R488S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R488S(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACATGAGAGGATCCACACTG	0.393000													14	108					0	0	0.457914	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745530	135745530	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:135745530C>G	ENST00000375845.3	-	7	942	c.912G>C	c.(910-912)aaG>aaC	p.K304N	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K321N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K191N|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.K304N(1)									AGTTTTCCTCCTTCTCCAGGC	0.408000													18	147					0	0	0.592651	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285753	85285753	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:85285753T>C	ENST00000450363.3	-	2	605	c.147A>G	c.(145-147)acA>acG	p.T49T	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.T49T	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCAACATCTGTATCTTTCT	0.403000													58	395					0	0	0.870114	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718234	2718234	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:2718234G>A	ENST00000320876.6	+	18	2676		c.e18+1		SMCHD1_ENST00000261598.8_Splice_Site|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization		ATP binding	p.?(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAAAAATGGGTGAGTTCTTA	0.284000													18	70					0	0	0.654019	0	0
NGDN	25983	broad.mit.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:23945466G>C	ENST00000397154.3	+	8	576	c.563G>C	c.(562-564)cGg>cCg	p.R188P	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000408901.3_Missense_Mutation_p.R188P			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468000													14	111					0	0	0.479597	0	0
GPR158	57512	broad.mit.edu	37	10	25464889	25464889	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:25464889C>A	ENST00000376351.3	+	1	899	c.540C>A	c.(538-540)acC>acA	p.T180T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	180						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T180T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTTCAGCACCGATTCGCTGT	0.667000													3	9					0.115264	0.115756	0.115264	1	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:124294222G>T	ENST00000356130.3	-	1	567	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000													20	196					1.50039e-11	1.68794e-11	0.608945	1	0
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:39898382G>T	ENST00000597629.1	+	2	116		c.e2-1		ZFP36_ENST00000248673.3_Splice_Site|ZFP36_ENST00000594045.1_Splice_Site			P26651	TTP_HUMAN	ZFP36 ring finger protein						positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.?(2)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCGCAGAGCCTCCTGT	0.672000													64	99					7.7321e-48	1.02683e-47	0.870114	1	0
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6007293C>T	ENST00000332249.4	-	1	922	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275I(2)|p.V290I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATGGACATGATGGGGT	0.502000													25	107					0	0	0.681144	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42407924G>T	ENST00000599846.1	+	21	2198	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	ARHGEF1_ENST00000337665.4_Silent_p.L650L|ARHGEF1_ENST00000354532.3_Silent_p.L635L|ARHGEF1_ENST00000378152.4_Silent_p.L617L|ARHGEF1_ENST00000347545.4_Silent_p.L602L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	635	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.L650L(2)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCCTATGCTGAGCGAGTTCA	0.627000													3	10					0.184627	0.18502	0.184627	1	0
KRT82	3888	broad.mit.edu	37	12	52788852	52788852	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52788852G>T	ENST00000257974.2	-	9	1526	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGCTCGCAGGGGACATAGA	0.632000													10	30					1.76689e-08	1.919e-08	0.335167	1	0
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:49842403G>T	ENST00000340652.3	+	3	1349	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		p.E265*(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCCTGTGTACGAGCCTGATCA	0.577000													60	168					1.73933e-33	2.21612e-33	0.870114	1	0
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:49720763C>G	ENST00000296456.5	+	22	2587	c.2187C>G	c.(2185-2187)caC>caG	p.H729Q	APEH_ENST00000438011.1_Missense_Mutation_p.H734Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	729					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.H729Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACGCACACACTTGGGCAGCT	0.567000													7	26					0	0	0.248553	0	0
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	C	G	rs145638188	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:76455187C>G	ENST00000389840.5	-	61	9839	c.9715G>C	c.(9715-9717)Gag>Cag	p.E3239Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3248Q					dynein, axonemal, heavy chain 17									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607000													4	67					0	0	0.217242	0	0
SLPI	6590	broad.mit.edu	37	20	43881764	43881764	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:43881764C>A	ENST00000338380.2	-	3	293	c.273G>T	c.(271-273)gtG>gtT	p.V91V		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	91	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity	p.V91V(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGCCATAAGTCACTGGGCACT	0.517000													95	219					3.6033e-41	4.71432e-41	0.870114	1	0
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:49897671G>C	ENST00000477224.1	-	10	1353	c.875C>G	c.(874-876)tCt>tGt	p.S292C	CAMKV_ENST00000467248.1_Missense_Mutation_p.S217C|CAMKV_ENST00000296471.7_Missense_Mutation_p.S264C|CAMKV_ENST00000466940.1_Missense_Mutation_p.S249C|CAMKV_ENST00000488336.1_Missense_Mutation_p.S292C|CAMKV_ENST00000463537.1_Missense_Mutation_p.S292C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S292C(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTTCTTATCAGAAGCAGCATT	0.488000													15	41					0	0	0.520397	0	0
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:155500537C>A	ENST00000461783.3	+	14	3927	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TIAM2_ENST00000528391.2_Missense_Mutation_p.P221Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P909Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.P885Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P885Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.P261Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P885Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.P197Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.P885Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGTCTTTCCACTAAATGTT	0.373000													131	206					1.72601e-52	2.3161e-52	0.870114	1	0
DCDC1	341019	broad.mit.edu	37	11	31115602	31115602	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:31115602T>A	ENST00000597505.1	-	14	2112	c.2113A>T	c.(2113-2115)Acc>Tcc	p.T705S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.T324S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTACCTTGGTGATCAGCCAC	0.537000													62	401					0	0	0.870114	0	0
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56310672G>A	ENST00000528616.2	-	1	85	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTGGAGTTCCGGGCAATCTGT	0.458000													86	265					0	0	0.870114	0	0
RIMS2	9699	broad.mit.edu	37	8	104987722	104987722	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:104987722C>T	ENST00000507740.1	+	13	2527	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L	RIMS2_ENST00000436393.2_Missense_Mutation_p.P750L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P972L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P811L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1034					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P764L(2)|p.P1039L(1)|p.P750L(1)|p.P972L(1)		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)			CCCAGTGTCCCTCCTCCACAA	0.413000										HNSCC(12;0.0054)			19	96					0	0	0.592651	0	0
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86578265T>C	ENST00000370571.2	-	5	1950	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	COL24A1_ENST00000436319.1_Silent_p.G528G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	528	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.G528G(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCAGGTAATCCAGGTAAAC	0.388000													52	136					0	0	0.870114	0	0
PCDH20	64881	broad.mit.edu	37	13	61989281	61989281	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:61989281C>T	ENST00000409186.1	-	4	2116	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PCDH20_ENST00000409204.4_Missense_Mutation_p.R4Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGCATTCCCTCGGCCGCGCAT	0.657000													7	6					0	0	0.307466	0	0
EOGT	285203	broad.mit.edu	37	3	69050804	69050804	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:69050804C>G	ENST00000383701.3	-	9	1424	c.682G>C	c.(682-684)Gac>Cac	p.D228H	EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.D127H|EOGT_ENST00000295571.5_Missense_Mutation_p.D228H	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase									p.D228H(1)									ATGACAATGTCACATTTAGCA	0.318000													7	46					0	0	0.278610	0	0
OIT3	170392	broad.mit.edu	37	10	74660219	74660219	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:74660219G>T	ENST00000334011.5	+	3	739	c.521G>T	c.(520-522)gGc>gTc	p.G174V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	174						nuclear envelope	calcium ion binding	p.G174V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACTGTGCTAGGCCCTGACAGG	0.473000													17	147					5.03518e-11	5.6466e-11	0.557998	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754809	140754809	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140754809C>G	ENST00000517434.1	+	1	1159	c.1159C>G	c.(1159-1161)Ccg>Gcg	p.P387A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P387A(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCATCCCGAGAAGTCT	0.443000													8	41					0	0	0.278610	0	0
AHR	196	broad.mit.edu	37	7	17367416	17367416	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:17367416G>A	ENST00000242057.4	+	4	1037	c.394G>A	c.(394-396)Gat>Aat	p.D132N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	132	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTCACTACAGATGCTTTGGT	0.279000													7	168					0	0	0.361761	0	0
CASZ1	54897	broad.mit.edu	37	1	10720135	10720135	+	Missense_Mutation	SNP	C	C	T	rs139953654		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:10720135C>T	ENST00000377022.3	-	6	1281	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	CASZ1_ENST00000344008.5_Missense_Mutation_p.G322S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G322S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGATTCTCGCCGGTCTTCAGT	0.587000													4	87					0	0	0.217242	0	0
ALG13	79868	broad.mit.edu	37	X	110970597	110970597	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:110970597G>T	ENST00000394780.3	+	17	2026	c.2014G>T	c.(2014-2016)Ggc>Tgc	p.G672C	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.G568C	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	672					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.G568C(1)|p.G73C(1)|p.G672C(1)		endometrium(2)|lung(10)|skin(1)	13						CAACATGCCGGGCCCTAAAGT	0.398000													16	29					4.35082e-09	4.76197e-09	0.592651	1	0
ZBTB26	57684	broad.mit.edu	37	9	125682102	125682102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:125682102G>A	ENST00000373656.3	-	2	185	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	ZBTB26_ENST00000373654.1_Missense_Mutation_p.L38F	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L38F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCATCTATGAGAACTGTAACA	0.333000													7	41					0	0	0.307466	0	0
TTN	7273	broad.mit.edu	37	2	179559588	179559588	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179559588C>T	ENST00000589042.1	-	116	31540	c.31316G>A	c.(31315-31317)aGa>aAa	p.R10439K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9195K|TTN_ENST00000591111.1_Missense_Mutation_p.R10122K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10122	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9195K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTCCATTCTTCGAGAAGT	0.303000													3	20					0	0	0.184627	0	0
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:46620584G>C	ENST00000296145.5	+	2	768		c.e2-1		LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Splice_Site	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.?(2)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTCTTCCTAGTGTGATTTGG	0.413000													31	146					0	0	0.853193	0	0
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:1483437T>C	ENST00000300954.5	-	12	1478	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	473					proteolysis	integral to membrane	serine-type endopeptidase activity	p.R473G(2)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTTTCCCTGATGTAGATC	0.701000													2	1					0	0	0.217242	0	0
KLHL28	54813	broad.mit.edu	37	14	45415050	45415050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:45415050G>C	ENST00000396128.4	-	2	201	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433000													23	185					0	0	0.693898	0	0
H2AFV	94239	broad.mit.edu	37	7	44875224	44875224	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44875224G>C	ENST00000222690.6	-	4	334	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	H2AFV_ENST00000446531.1_Missense_Mutation_p.L77V|H2AFV_ENST00000349299.3_Missense_Mutation_p.L39V|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000308153.4_Missense_Mutation_p.L77V|H2AFV_ENST00000350771.3_Missense_Mutation_p.L51V|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000437072.1_Missense_Mutation_p.L39V	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L77V(1)|p.L77I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTTACTTTGAGATCCTTAGAA	0.463000													20	144					0	0	0.681144	0	0
VWA5A	4013	broad.mit.edu	37	11	123988412	123988412	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:123988412A>T	ENST00000456829.2	+	4	327	c.76A>T	c.(76-78)Att>Ttt	p.I26F	VWA5A_ENST00000392744.4_Missense_Mutation_p.I42F|VWA5A_ENST00000361352.5_Missense_Mutation_p.I26F|VWA5A_ENST00000392748.1_Missense_Mutation_p.I26F|VWA5A_ENST00000449321.1_Missense_Mutation_p.I26F|VWA5A_ENST00000360334.4_Missense_Mutation_p.I26F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	26	VIT.							p.I26F(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAGCGTGAACATTTACGAGTT	0.458000													46	165					0	0	0.870114	0	0
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:36699915C>G	ENST00000255448.4	-	2	571	c.360G>C	c.(358-360)ctG>ctC	p.L120L	DCLK1_ENST00000360631.3_Silent_p.L120L|DCLK1_ENST00000379892.4_Silent_p.L120L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.L120L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTGGTCCAGGCTGGAAA	0.522000													22	45					0	0	0.681144	0	0
HRH1	3269	broad.mit.edu	37	3	11301829	11301829	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:11301829C>G	ENST00000397056.1	+	3	1297	c.1106C>G	c.(1105-1107)aCa>aGa	p.T369R	HRH1_ENST00000438284.2_Missense_Mutation_p.T369R|HRH1_ENST00000431010.2_Missense_Mutation_p.T369R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.T369R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCACAGAGACAGCACCAGGC	0.502000													9	152					0	0	0.411799	0	0
HDC	3067	broad.mit.edu	37	15	50534774	50534774	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50534774G>T	ENST00000267845.3	-	12	2074	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	HDC_ENST00000543581.1_Missense_Mutation_p.P525T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	558					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTGGCATCTGGGGCCTCTTCT	0.547000													55	94					1.13205e-32	1.43718e-32	0.870114	1	0
GRIK3	2899	broad.mit.edu	37	1	37319301	37319301	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:37319301C>A	ENST00000373091.3	-	8	1143	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	GRIK3_ENST00000373093.4_Missense_Mutation_p.G376V|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	376					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	p.G376V(2)		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)	AACAATTCGTCCAGTTAATCC	0.493000													8	41					1.5842e-08	1.72589e-08	0.435327	1	0
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:72409924G>A	ENST00000395270.1	+	10	1663	c.622G>A	c.(622-624)Gac>Aac	p.D208N	POM121_ENST00000446813.1_Missense_Mutation_p.D208N|POM121_ENST00000257622.4_Missense_Mutation_p.D208N|POM121_ENST00000358357.3_Missense_Mutation_p.D208N|POM121_ENST00000434423.2_Missense_Mutation_p.D473N	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	473	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.D208N(4)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTGGCAGCAGACAGGGAGTC	0.488000													8	20					0	0	0.335167	0	0
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:85863297C>T	ENST00000304195.3	-	14	1536	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.E250K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E101K|FRMD3_ENST00000376438.1_Missense_Mutation_p.E444K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E444K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TACACTAGTTCAGAGATGGTT	0.493000													39	135					0	0	0.827153	0	0
COL24A1	255631	broad.mit.edu	37	1	86554868	86554868	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86554868G>T	ENST00000370571.2	-	7	2062	c.1696C>A	c.(1696-1698)Caa>Aaa	p.Q566K	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q566K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	566	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.M565_Q566>IK(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTATCACCTTGCATACCAGGG	0.333000													19	108					3.6726e-16	4.25709e-16	0.667858	1	0
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:18550453C>A	ENST00000399799.1	-	23	3616	c.2676G>T	c.(2674-2676)ttG>ttT	p.L892F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	892	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L892F(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCTAGATCCAACTGAGTAG	0.378000													59	101					8.35685e-17	9.72672e-17	0.870114	1	0
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:28578214G>T	ENST00000380982.4	-	24	3047	c.2966C>A	c.(2965-2967)cCg>cAg	p.P989Q	FLT3_ENST00000537084.1_Missense_Mutation_p.P945Q|FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.P986Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	986					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P986Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGCGGAGAGAGTAG	0.463000			"""Mis, O"""		"""AML, ALL"""								70	132					1.96331e-54	2.6471e-54	0.870114	1	0
ZFP2	80108	broad.mit.edu	37	5	178358866	178358866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178358866A>G	ENST00000361362.2	+	5	1082	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZFP2_ENST00000523286.1_Silent_p.K184K|ZFP2_ENST00000520301.1_Silent_p.K184K|ZFP2_ENST00000503510.2_Silent_p.K184K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K184K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCGGAGAGAAACCCTATCAGT	0.398000													8	61					0	0	0.361761	0	0
PRAME	23532	broad.mit.edu	37	22	22892257	22892257	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22892257C>G	ENST00000543184.1	-	4	1706	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PRAME_ENST00000405655.3_Missense_Mutation_p.E282Q|PRAME_ENST00000398741.1_Missense_Mutation_p.E282Q|PRAME_ENST00000398743.2_Missense_Mutation_p.E282Q|PRAME_ENST00000424204.2_Missense_Mutation_p.E266Q|PRAME_ENST00000402697.1_Missense_Mutation_p.E282Q|PRAME_ENST00000539862.1_Missense_Mutation_p.E266Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	282					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E282Q(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATATACTGCTCTTCCTTCTCC	0.502000													61	79					0	0	0.870114	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:30793439C>G	ENST00000458257.1	+	2	258	c.244C>G	c.(244-246)Ctc>Gtc	p.L82V	INMT_ENST00000013222.5_Missense_Mutation_p.L83V|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.L82V														p.L83V(2)									AGACATCACTCTCTCCGACTT	0.567000													143	282					0	0	0.870114	0	0
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:35776497G>T	ENST00000440995.2	+	29	4202	c.4202_splice	c.e29+1	p.S1401_splice	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site_p.S1406_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.S1406I(1)		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)			GAAATGGCCAGGTAAAGTACT	0.308000													66	270					9.16385e-24	1.11051e-23	0.870114	1	0
TRIO	7204	broad.mit.edu	37	5	14363882	14363882	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:14363882G>C	ENST00000344204.4	+	14	2457	c.2433G>C	c.(2431-2433)caG>caC	p.Q811H	TRIO_ENST00000537187.1_Missense_Mutation_p.Q811H|TRIO_ENST00000509967.2_Missense_Mutation_p.Q762H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	811					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.Q811H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCTTTCTCAGCAAATGAATG	0.433000													26	98					0	0	0.750413	0	0
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52327146T>A	ENST00000339223.4	+	2	324	c.145T>A	c.(145-147)Tgg>Agg	p.W49R	FPR3_ENST00000595991.1_Missense_Mutation_p.W49R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	49					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W49R(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTTGTGATCTGGGTGGCTGG	0.552000													261	473					0	0	0.870114	0	0
KIF16B	55614	broad.mit.edu	37	20	16348016	16348016	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:16348016C>G	ENST00000408042.1	-	23	4111	c.3954G>C	c.(3952-3954)aaG>aaC	p.K1318N	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K1318N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACATTTTTCTTTTCTGGAA	0.433000													172	574					0	0	0.870114	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:64536211C>T	ENST00000355086.3	+	22	3541	c.3017C>T	c.(3016-3018)aCg>aTg	p.T1006M	SRGAP1_ENST00000543397.1_Missense_Mutation_p.T943M|SRGAP1_ENST00000357825.3_Missense_Mutation_p.T983M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance	cytosol		p.T1006M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCACTTCCACGGAATCTCTC	0.552000													80	134					0	0	0.870114	0	0
ACBD3	64746	broad.mit.edu	37	1	226340111	226340111	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:226340111C>G	ENST00000366812.5	-	7	1354	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	434	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.E434Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCTGTCCATTCAAAATACACC	0.468000													15	324					0	0	0.457914	0	0
MYO18A	399687	broad.mit.edu	37	17	27441092	27441092	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:27441092G>A	ENST00000527372.1	-	15	2715	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	MYO18A_ENST00000354329.4_Silent_p.D845D|MYO18A_ENST00000533112.1_Silent_p.D845D|MYO18A_ENST00000531253.1_Silent_p.D845D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	845	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.D845D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTCCAAGTCGTCAAACGCCA	0.597000													4	9					0	0	0.184627	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603514	111603514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:111603514G>A	ENST00000431670.2	+	2	1001	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PHLDB2_ENST00000412622.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G197E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G224E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G197E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	197						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G197E(2)|p.G224E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCAGATCGGGAGCCGCAAGC	0.567000													18	108					0	0	0.693898	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65793536G>C	ENST00000312106.5	-	1	452	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	105	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V105V(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGAGGGGACGGCGCCTT	0.607000													39	128					0	0	0.870114	0	0
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:112406907T>C	ENST00000302475.4	-	10	1802	c.1239A>G	c.(1237-1239)caA>caG	p.Q413Q	MCC_ENST00000515367.2_Silent_p.Q350Q|MCC_ENST00000408903.3_Silent_p.Q603Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	413					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.Q603Q(2)|p.Q413Q(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGTCATTTTGGGATTTGA	0.428000													87	359					0	0	0.870114	0	0
NSFL1C	55968	broad.mit.edu	37	20	1424459	1424459	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:1424459C>A	ENST00000216879.4	-	9	1915	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	NSFL1C_ENST00000476071.1_Missense_Mutation_p.D352Y|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D352Y|NSFL1C_ENST00000381658.4_Missense_Mutation_p.D239Y|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D319Y	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	350	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.D350Y(2)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGCTCTCATCAGCCAGCTCT	0.572000													15	95					2.94398e-08	3.19007e-08	0.557998	1	0
ERN1	2081	broad.mit.edu	37	17	62141442	62141442	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:62141442C>A	ENST00000433197.2	-	10	1086	c.991G>T	c.(991-993)Gag>Tag	p.E331*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	331					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E331*(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ATCACACACTCCCCCTTGTCC	0.562000											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					5.18039e-06	5.43826e-06	0.278610	1	0
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:127728854C>A	ENST00000508053.1	-	16	2413	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	FBN2_ENST00000508989.1_Missense_Mutation_p.G447V|FBN2_ENST00000262464.4_Missense_Mutation_p.G480V			P35556	FBN2_HUMAN	fibrillin 2	480					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G480V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTCCCTGTCCCCCGGCCCC	0.512000													38	140					8.94452e-30	1.11846e-29	0.870114	1	0
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:5373536C>T	ENST00000380219.1	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P267S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCATGTTCCTCATGTCGT	0.408000													145	447					0	0	0.870114	0	0
ATP5A1	498	broad.mit.edu	37	18	43669547	43669547	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:43669547C>G	ENST00000593152.2	-	5	1024	c.485G>C	c.(484-486)gGt>gCt	p.G162A	ATP5A1_ENST00000590665.1_Missense_Mutation_p.G190A|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G212A|ATP5A1_ENST00000398752.6_Missense_Mutation_p.G212A	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	212					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.G212A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CTGTCGGTCACCAATAATCAG	0.408000													15	96					0	0	0.608945	0	0
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40344578C>T	ENST00000301671.8	-	4	1011	c.570G>A	c.(568-570)ctG>ctA	p.L190L	GHDC_ENST00000414034.3_Silent_p.L190L|GHDC_ENST00000593209.1_Silent_p.L190L|GHDC_ENST00000436923.2_Silent_p.L190L|GHDC_ENST00000587427.1_Silent_p.L190L|GHDC_ENST00000428494.2_Silent_p.L151L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	190						endoplasmic reticulum|nuclear envelope		p.L190L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGGGACCTCAGTGCGTCCA	0.652000													11	54					0	0	0.435327	0	0
ERBB4	2066	broad.mit.edu	37	2	212812224	212812224	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:212812224C>A	ENST00000342788.4	-	3	662	c.352G>T	c.(352-354)Gca>Tca	p.A118S	ERBB4_ENST00000402597.1_Missense_Mutation_p.A118S|ERBB4_ENST00000436443.1_Missense_Mutation_p.A118S|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	118					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A118S(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAAAATATTGCCAAGGCATAT	0.373000										TSP Lung(8;0.080)			19	133					2.37509e-13	2.71302e-13	0.592651	1	0
KRT19	3880	broad.mit.edu	37	17	39681167	39681167	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:39681167G>C	ENST00000361566.3	-	3	648	c.588C>G	c.(586-588)gcC>gcG	p.A196A		NM_002276.4	NP_002267.2			keratin 19									p.A196A(1)|p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTCGGTCCTGGCCAGGGTCA	0.572000													9	100					0	0	0.361761	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716438	142716438	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:142716438C>A	ENST00000381779.4	-	2	2712	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E829D|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E829D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	829						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTTGCTCCTCAAGGACCT	0.403000													23	47					6.32553e-13	7.20224e-13	0.681144	1	0
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6007353A>T	ENST00000332249.4	-	1	862	c.808T>A	c.(808-810)Tat>Aat	p.Y270N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y255N(2)|p.Y270N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGACATAGAAGACCAGG	0.517000													58	208					0	0	0.870114	0	0
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:74094015C>A	ENST00000607838.1	-	5	596	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	EXOC7_ENST00000467929.2_Missense_Mutation_p.V127L|EXOC7_ENST00000411744.2_Missense_Mutation_p.V168L|EXOC7_ENST00000405575.4_Missense_Mutation_p.V168L|EXOC7_ENST00000589210.1_Missense_Mutation_p.V168L|EXOC7_ENST00000332065.5_Missense_Mutation_p.V168L|EXOC7_ENST00000335146.7_Missense_Mutation_p.V168L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	168					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	p.V168L(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATGAGCACGGGCGAGACG	0.592000													29	134					1.84765e-07	1.97932e-07	0.788014	1	0
ABHD2	11057	broad.mit.edu	37	15	89695002	89695002	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:89695002C>T	ENST00000352732.5	+	4	809	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	ABHD2_ENST00000565973.1_Missense_Mutation_p.H97Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.H97Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	97						integral to membrane	carboxylesterase activity	p.H97Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTTATGGGCACCGGAAGTT	0.507000													64	744					0	0	0.870114	0	0
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:21698923A>T	ENST00000388958.3	+	7	590	c.589A>T	c.(589-591)Aca>Tca	p.T197S	OTOA_ENST00000286149.4_Missense_Mutation_p.T197S|OTOA_ENST00000388956.4_Missense_Mutation_p.T118S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	197					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.T197S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGACATCACAGAGCGGCT	0.527000													8	36					0	0	0.307466	0	0
TTC18	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:75095212T>C	ENST00000310715.3	-	8	983	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.Y288C|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.Y288C	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	288							binding	p.Y288C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGATCAAGGTAGCAGCGACT	0.393000													21	104					0	0	0.729181	0	0
BRS3	680	broad.mit.edu	37	X	135570317	135570317	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:135570317C>G	ENST00000370648.3	+	1	272	c.44C>G	c.(43-45)tCa>tGa	p.S15*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	15					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.S15*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACTTTAATTTCAATCACAAAT	0.388000													9	41					0	0	0.335167	0	0
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:30704584C>T	ENST00000256246.2	-	1	2024	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	650								p.T650T(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTTATCCGTATCAATTT	0.299000													16	43					0	0	0.575678	0	0
CHST11	50515	broad.mit.edu	37	12	105150924	105150924	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:105150924C>T	ENST00000303694.5	+	3	841	c.402C>T	c.(400-402)ctC>ctT	p.L134L	CHST11_ENST00000549260.1_Silent_p.L129L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	134					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.L134L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAAGCGGCTCATGATGGTCC	0.612000													21	124					0	0	0.639603	0	0
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:71977541G>A	ENST00000266674.5	+	18	2062	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	LGR5_ENST00000540815.2_Missense_Mutation_p.R560K|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.R512K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	584						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGTTTTCAGATCCCCTCTG	0.493000													43	251					0	0	0.870114	0	0
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:11185641T>A	ENST00000379446.5	-	7	2425	c.2259A>T	c.(2257-2259)gcA>gcT	p.A753A	NEDD9_ENST00000504387.1_Silent_p.A753A|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	753	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	p.A753A(6)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCAGTTTGTGTGCACTGAGGA	0.547000													69	142					0	0	0.870114	0	0
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:13702486T>A	ENST00000357447.2	-	20	2096	c.1728A>T	c.(1726-1728)ccA>ccT	p.P576P	FRMD4A_ENST00000378503.1_Silent_p.P576P|FRMD4A_ENST00000358621.4_Silent_p.P561P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576						cytoplasm|cytoskeleton	binding	p.P576P(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCGACGGTGGCCGAGGAG	0.562000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	30					0	0	0.834066	0	0
MALAT1	378938	broad.mit.edu	37	11	65272908	65272908	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65272908A>T	ENST00000534336.1	+	0	7676					NR_002819.2																						TTAATAATAAAGCCCAAATCT	0.473000													12	70					0	0	0.411799	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769466	176769466	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:176769466C>G	ENST00000430069.1	-	5	512	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D85H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	85	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D85H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATTACGGCATCTATCAGGGAC	0.443000													12	109					0	0	0.479597	0	0
HMCN1	83872	broad.mit.edu	37	1	186014906	186014906	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:186014906C>T	ENST00000271588.4	+	41	6620	c.6391C>T	c.(6391-6393)Ccc>Tcc	p.P2131S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2131S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2131	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P2131S(1)		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						TGATGCTATTCCCCCACCTAC	0.418000													15	154					0	0	0.575678	0	0
MYOM3	127294	broad.mit.edu	37	1	24401952	24401952	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:24401952G>A	ENST00000330966.7	-	22	2880	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.I905I|MYOM3_ENST00000374434.3_Silent_p.I905I			Q5VTT5	MYOM3_HUMAN	myomesin 3	905								p.I905I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCAACCTCGATCTCATGGG	0.537000													13	55					0	0	0.575678	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481775	27481775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27481775G>T	ENST00000233535.4	-	2	475	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC30A3_ENST00000447008.2_Silent_p.L36L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	41					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.L41L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCTCAGGGAGGGGCTCTG	0.647000													13	16					1.49906e-05	1.56438e-05	0.457914	1	0
IPPK	64768	broad.mit.edu	37	9	95420957	95420957	+	Missense_Mutation	SNP	C	C	T	rs148572533		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:95420957C>T	ENST00000287996.3	-	2	364	c.88G>A	c.(88-90)Gtc>Atc	p.V30I		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	30					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	p.V30I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CGCAGCACGACGCAGCGCTGT	0.433000													7	29					0	0	0.278610	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33097430	33097430	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:33097430A>C	ENST00000468695.1	-	5	432	c.414T>G	c.(412-414)atT>atG	p.I138M	ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000373501.2_Intron|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	126								p.I138M(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAACTTACCCAATTGATCGTA	0.294000													3	28					0	0	0.150653	0	0
BCHE	590	broad.mit.edu	37	3	165491239	165491239	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:165491239A>G	ENST00000264381.3	-	4	1906	c.1740T>C	c.(1738-1740)aaT>aaC	p.N580N	BCHE_ENST00000540653.1_Silent_p.N42N	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.N580N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCATCATGTAATTGTTCCAGC	0.313000													13	40					0	0	0.479597	0	0
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35370326G>T	ENST00000378495.3	+	12	1448	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	UNC13B_ENST00000378496.4_Missense_Mutation_p.G409V|UNC13B_ENST00000396787.1_Missense_Mutation_p.G421V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	409					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.G409V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCCGGAGGGCTCTATGGC	0.512000													62	70					1.15062e-32	1.45945e-32	0.870114	1	0
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:155171561C>T	ENST00000262640.6	+	7	624	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000286448.6_Silent_p.I203I|VAMP7_ENST00000460621.1_Silent_p.I162I	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348000													37	207					0	0	0.853193	0	0
C11orf82	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:82643578G>C	ENST00000533655.1	+	6	1410	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.E400Q|C11orf82_ENST00000329143.3_Missense_Mutation_p.E99Q	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	400					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.E400Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGACTTGAAGAGACAGCCAG	0.463000													140	516					0	0	0.870114	0	0
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:24920559A>G	ENST00000405141.1	+	12	1552	c.841A>G	c.(841-843)Aga>Gga	p.R281G	NCOA1_ENST00000538539.1_Missense_Mutation_p.R281G|NCOA1_ENST00000407230.1_Missense_Mutation_p.R130G|NCOA1_ENST00000348332.3_Missense_Mutation_p.R281G|NCOA1_ENST00000288599.5_Missense_Mutation_p.R281G|NCOA1_ENST00000395856.3_Missense_Mutation_p.R281G|NCOA1_ENST00000406961.1_Missense_Mutation_p.R281G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	281								p.R281G(4)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTTCCCTGAGAGCTGCTGG	0.368000			T	PAX3	alveolar rhadomyosarcoma								44	61					0	0	0.870114	0	0
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:34263448C>G	ENST00000607016.1	-	3	536	c.225G>C	c.(223-225)ggG>ggC	p.G75G	RP1-187N21.4_ENST00000605528.1_Silent_p.G194G	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3									p.G75G(2)		lung(2)	2						TTCCCAATGTCCCTTTTACTC	0.308000													12	88					0	0	0.539581	0	0
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:107816974A>T	ENST00000379028.3	-	27	3522	c.3052T>A	c.(3052-3054)Tta>Ata	p.L1018I	NRCAM_ENST00000413765.2_Missense_Mutation_p.L999I|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1002I|NRCAM_ENST00000425651.2_Missense_Mutation_p.L1018I|NRCAM_ENST00000379024.4_Missense_Mutation_p.L999I|NRCAM_ENST00000379022.4_Missense_Mutation_p.L1018I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1018	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.L1002I(2)|p.L1018I(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGAAATTTAAATTTTTTAAA	0.363000													37	42					0	0	0.840704	0	0
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:36194191A>G	ENST00000242108.4	+	2	976	c.258A>G	c.(256-258)gtA>gtG	p.V86V	EEPD1_ENST00000534978.1_Silent_p.V86V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	86					DNA repair		DNA binding	p.V86V(2)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCAGTGGTGTAGGCGCCACCA	0.612000													5	16					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:9072073C>A	ENST00000397910.4	-	3	15576	c.15373G>T	c.(15373-15375)Gag>Tag	p.E5125*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGGTCTCTTCTGTGTTT	0.438000													114	170					6.25226e-48	8.31086e-48	0.870114	1	0
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	A	rs148252365		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:47882629C>A	ENST00000289672.2	-	34	5426	c.5376G>T	c.(5374-5376)ctG>ctT	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468000													15	58					5.35267e-07	5.69527e-07	0.557998	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683365	140683365	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140683365C>T	ENST00000239451.4	-	1	247	c.68G>A	c.(67-69)tGt>tAt	p.C23Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGTCAGTACACACGCTGTCCC	0.597000													7	74					0	0	0.387290	0	0
ASTN1	460	broad.mit.edu	37	1	176915180	176915180	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:176915180C>T	ENST00000367654.2	-	13	2168	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D711N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D711N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D711N|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	719					cell migration|neuron cell-cell adhesion	integral to membrane		p.D711N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCACAGTCACTTCCCTCT	0.532000													50	321					0	0	0.870114	0	0
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:38188721A>G	ENST00000373048.4	-	10	1951	c.1952T>C	c.(1951-1953)cTt>cCt	p.L651P	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.L651P|EPHA10_ENST00000330210.7_Missense_Mutation_p.L146P|EPHA10_ENST00000540011.1_Missense_Mutation_p.L146P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	651	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.L652P(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCCTCCAAGGCTCCTCTC	0.617000													10	21					0	0	0.411799	0	0
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152281538G>T	ENST00000368799.1	-	3	5859	c.5824C>A	c.(5824-5826)Cat>Aat	p.H1942N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAAGATGGTTTCTGGAA	0.572000									Ichthyosis				188	256					1.16735e-107	1.6283e-107	0.870114	1	0
TNRC18	84629	broad.mit.edu	37	7	5399080	5399080	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:5399080C>A	ENST00000399537.4	-	15	5130	c.4782G>T	c.(4780-4782)ggG>ggT	p.G1594G	TNRC18_ENST00000430969.1_Silent_p.G1594G			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1594							DNA binding	p.G1594G(2)|p.G649G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTGGTTCCTCCCCCTGGCTT	0.522000													8	181					2.17888e-05	2.27047e-05	0.335167	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200730088	200730088	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:200730088C>G	ENST00000358823.2	+	2	531	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CAMSAP2_ENST00000236925.4_Silent_p.L87L|CAMSAP2_ENST00000413307.2_Silent_p.L87L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	87						cytoplasm|microtubule	protein binding	p.L87L(1)									CTGGGAGTCTCATTCTCAAGA	0.433000													60	357					0	0	0.870114	0	0
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	G	C	rs144091327	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27603003G>C	ENST00000323703.6	-	2	366	c.168C>G	c.(166-168)gaC>gaG	p.D56E	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.D56E(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTTGCCGTCGCCTTCCT	0.582000													19	79					0	0	0.639603	0	0
TBATA	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:72541683G>T	ENST00000299290.1	-	4	540	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	TBATA_ENST00000545575.1_Silent_p.R41R|TBATA_ENST00000456372.2_Silent_p.R51R	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597000													17	34					3.41278e-10	3.78513e-10	0.520397	1	0
SNORD114-4	767580	broad.mit.edu	37	14	101420712	101420712	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:101420712G>C	ENST00000363962.1	+	0	2					NR_003196.1																						TCCTAAGCCTGAGCCAGTGAT	0.328000													17	58					0	0	0.592651	0	0
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:97605318C>T	ENST00000371203.5	+	5	951	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q260*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					cell adhesion	integral to plasma membrane	ATP binding	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502000													57	302					0	0	0.870114	0	0
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40095333G>T	ENST00000591658.1	+	0	1034							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L322F(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAAACTTGTATAGCTGCA	0.512000													20	43					7.45023e-12	8.40828e-12	0.592651	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140515957A>C	ENST00000231134.5	+	1	1158	c.941A>C	c.(940-942)tAt>tCt	p.Y314S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y314S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCATATTATAACGTGGAA	0.453000													29	127					0	0	0.740014	0	0
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:84339310T>C	ENST00000295488.3	-	16	3161	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	HELQ_ENST00000510985.1_Missense_Mutation_p.K933R	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1000							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K1000R(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTCAGCTTCTTGGTAAGTTC	0.348000								Other identified genes with known or suspected DNA repair function					74	92					0	0	0.870114	0	0
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:236918345C>T	ENST00000366578.4	+	17	2167	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ACTN2_ENST00000546208.1_Silent_p.I161I|ACTN2_ENST00000542672.1_Silent_p.I667I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	667					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.I667I(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCCAGATCACAGGAGCCC	0.557000													32	230					0	0	0.779181	0	0
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51738435G>T	ENST00000436584.2	+	4	443	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	CD33_ENST00000391796.3_Missense_Mutation_p.V257L|CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000262262.4_Missense_Mutation_p.V257L			P20138	CD33_HUMAN	CD33 molecule	257	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483000													79	136					4.69036e-40	6.10265e-40	0.870114	1	0
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:110098260G>A	ENST00000230124.3	+	16	2010	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	FIG4_ENST00000441478.2_Missense_Mutation_p.R352K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	629					cell death	endosome membrane	protein binding	p.R629K(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCAACAAGAAGAAGGTATTTT	0.353000													10	58					0	0	0.435327	0	0
DEGS1	8560	broad.mit.edu	37	1	224377623	224377623	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:224377623G>A	ENST00000323699.4	+	2	593	c.427G>A	c.(427-429)Gat>Aat	p.D143N	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.D143N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	143					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	p.D143N(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGTCGATGTAGATATTCCTAC	0.408000													25	219					0	0	0.729181	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143955876T>A	ENST00000292427.4	-	9	1457	c.1425A>T	c.(1423-1425)acA>acT	p.T475T	CYP11B1_ENST00000517471.1_Silent_p.T409T|CYP11B1_ENST00000377675.3_Silent_p.T546T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	475					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T475T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGTTAGTGTCTCCACCT	0.542000									Familial Hyperaldosteronism type I				95	234					0	0	0.870114	0	0
OTOGL	283310	broad.mit.edu	37	12	80714208	80714208	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:80714208C>T	ENST00000458043.2	+	33	3788	c.3782C>T	c.(3781-3783)gCa>gTa	p.A1261V	OTOGL_ENST00000547103.1_Missense_Mutation_p.A1261V	NM_173591.3	NP_775862.3			otogelin-like									p.A1261V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAGCATTAGCACTTGTTTCC	0.388000													12	93					0	0	0.539581	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112972	39112972	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:39112972G>C	ENST00000216044.5	+	4	1034	c.801G>C	c.(799-801)atG>atC	p.M267I		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	267					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.M267I(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCTTCGGCATGACAGGCCATC	0.552000													53	281					0	0	0.870114	0	0
DMD	1756	broad.mit.edu	37	X	32383266	32383266	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:32383266T>C	ENST00000357033.4	-	35	5102	c.4896A>G	c.(4894-4896)acA>acG	p.T1632T	DMD_ENST00000378677.2_Silent_p.T1628T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1632	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T1627T(1)|p.T1628T(1)|p.T1632T(1)|p.T291T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCCTACCTCTGTGATACTCT	0.433000													15	111					0	0	0.608945	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29432450	29432450	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:29432450C>T	ENST00000283351.4	-	24	3855	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1120K	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1174					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.E1174K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTATATTTTTCAGAGGACTGT	0.328000													7	149					0	0	0.278610	0	0
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:135440237C>T	ENST00000443774.1	-	1	59	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522000													7	226					0	0	0.361761	0	0
PRKCI	5584	broad.mit.edu	37	3	170016870	170016870	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:170016870G>C	ENST00000295797.4	+	17	1980	c.1675G>C	c.(1675-1677)Gaa>Caa	p.E559Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	559	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.E550Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTTTACTAATGAACCTGTCCA	0.358000													15	160					0	0	0.500413	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:75014861G>A	ENST00000379727.3	-	2	776	c.578C>T	c.(577-579)tCa>tTa	p.S193L	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S193L|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S193L|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S193L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	193					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.S193L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATTGGTCACTGATACCACCAC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				20	53					0	0	0.639603	0	0
SNAP25	6616	broad.mit.edu	37	20	10286806	10286806	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:10286806G>T	ENST00000254976.2	+	8	793	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E194D|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	194	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.E194D(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GAATTGATGAGGCCAACCAAC	0.483000													116	310					1.73106e-74	2.37015e-74	0.870114	1	0
THSD7A	221981	broad.mit.edu	37	7	11450869	11450869	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:11450869C>A	ENST00000423059.3	-	19	4014	c.3763G>T	c.(3763-3765)Gat>Tat	p.D1255Y	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1255	TSP type-1 12.					integral to membrane		p.D1255Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACTTGCCATCACTTCGAACA	0.408000										HNSCC(18;0.044)			15	159					1.3612e-06	1.44073e-06	0.479597	1	0
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Nonstop_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:34889224A>T	ENST00000381539.3	+	10	1177	c.1173A>T	c.(1171-1173)tgA>tgT	p.*391C	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292V|NPSR1_ENST00000360581.1_Missense_Mutation_p.E358V|NPSR1_ENST00000531252.1_Intron			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.E358V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGAGAACTGAGAGGCATGAG	0.488000													104	275					0	0	0.870114	0	0
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:116426548C>A	ENST00000395715.3	-	7	4165	c.3588G>T	c.(3586-3588)gaG>gaT	p.E1196D	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1187D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E937D|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1183D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1183	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1196D(2)|p.E1183D(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCGTTTTCTCCTTGGAGG	0.413000									Langer-Giedion syndrome				9	78					2.17888e-05	2.27047e-05	0.335167	1	0
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:26919437C>T	ENST00000321765.5	-	3	1157	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.M275I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCTTTCCTCCATAGCTCCAT	0.473000													14	42					0	0	0.479597	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:78651442C>G	ENST00000286627.5	-	25	3961	c.3009G>C	c.(3007-3009)cgG>cgC	p.R1003R	RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1061R|KCNMA1_ENST00000354353.5_Silent_p.R1064R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.R1065R|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.R1003R|KCNMA1_ENST00000372443.1_Silent_p.R1030R|KCNMA1_ENST00000404857.1_Silent_p.R1044R|KCNMA1_ENST00000286628.8_Silent_p.R1061R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1003R(2)|p.R1065R(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCACCAGGGTCCGTATCAGGG	0.542000													32	77					0	0	0.796494	0	0
PPM1F	9647	broad.mit.edu	37	22	22280013	22280013	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22280013G>A	ENST00000407142.1	-	5	1470	c.410C>T	c.(409-411)gCa>gTa	p.A137V	PPM1F_ENST00000263212.5_Missense_Mutation_p.A305V|PPM1F_ENST00000397495.4_Missense_Mutation_p.A305V|PPM1F_ENST00000538191.1_Missense_Mutation_p.A201V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	305					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCACCCAATGCTTCAATGCG	0.627000													24	34					0	0	0.693898	0	0
TTN	7273	broad.mit.edu	37	2	179622626	179622626	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179622626C>T	ENST00000589042.1	-	45	10545	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3395K|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3395K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTATTTTCTTCAAATTTG	0.398000													14	165					0	0	0.500413	0	0
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:16359917C>T	ENST00000354981.2	-	19	2887	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q	KIF16B_ENST00000378003.2_Silent_p.Q136Q|KIF16B_ENST00000355755.3_Silent_p.Q910Q|KIF16B_ENST00000408042.1_Silent_p.Q910Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	910	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q910Q(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGGAGGTACTGTAGCTGGC	0.443000													116	240					0	0	0.870114	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51994903G>T	ENST00000291707.3	-	8	1835	c.1780C>A	c.(1780-1782)Ccc>Acc	p.P594T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P476T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	594					cell adhesion	integral to membrane	sugar binding	p.P594T(2)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTCACTTGGGGATGTTGATC	0.532000													72	290					3.76287e-55	5.08798e-55	0.870114	1	0
OR10G2	26534	broad.mit.edu	37	14	22102531	22102531	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22102531G>A	ENST00000542433.1	-	1	565	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCATGGAGCCGGCGACCCAAG	0.557000													23	197					0	0	0.779181	0	0
MIB1	57534	broad.mit.edu	37	18	19359454	19359454	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:19359454G>A	ENST00000261537.6	+	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	239					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G239D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGCAGAATGGCAACAGGAAT	0.408000													140	593					0	0	0.870114	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:197408180G>T	ENST00000273582.5	-	17	2660	c.2115C>A	c.(2113-2115)tgC>tgA	p.C705*	KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.C775*|KIAA0226_ENST00000296343.5_Nonsense_Mutation_p.C750*	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527000													20	311					4.35082e-09	4.76197e-09	0.592651	1	0
LHX8	431707	broad.mit.edu	37	1	75609537	75609537	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:75609537G>T	ENST00000294638.5	+	7	1282	c.618G>T	c.(616-618)ggG>ggT	p.G206G	LHX8_ENST00000356261.3_Silent_p.G196G	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G206G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGGGAATGGGATTAGTGTGG	0.408000													12	49					1.3612e-06	1.44073e-06	0.479597	1	0
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:28963357C>T	ENST00000377179.3	-	7	1934	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E474E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCCCACACTCCTCACACCTGT	0.493000													109	114					0	0	0.870114	0	0
TRIM37	4591	broad.mit.edu	37	17	57126552	57126552	+	Missense_Mutation	SNP	T	T	C	rs77807605		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57126552T>C	ENST00000376149.3	-	15	1960	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	TRIM37_ENST00000393065.2_Missense_Mutation_p.N472S|TRIM37_ENST00000393066.3_Missense_Mutation_p.N506S|TRIM37_ENST00000262294.7_Missense_Mutation_p.N506S			O94972	TRI37_HUMAN	tripartite motif containing 37	506	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.N506S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATAATCTTCATTCTGAATCTT	0.363000									Mulibrey Nanism				16	77					0	0	0.592651	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:47505153G>A	ENST00000371901.3	+	8	1272	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R340K|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	341						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R341K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCAAGAGAGATGCCGGGAG	0.522000													77	130					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179516838T>A	ENST00000589042.1	-	204	39504	c.39280A>T	c.(39280-39282)Agt>Tgt	p.S13094C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S10660C|TTN_ENST00000591111.1_Missense_Mutation_p.S11587C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11447							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10660C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGAGGACTTTCCGGTTTG	0.348000													11	93					0	0	0.457914	0	0
CHD7	55636	broad.mit.edu	37	8	61763057	61763057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:61763057G>T	ENST00000423902.2	+	26	5889	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1804					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.E1804*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACAGGCTATGAGAAGTACAA	0.527000													8	92					0.000673444	0.000693064	0.361761	1	0
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51742776C>A	ENST00000262262.4	+	7	949	c.928C>A	c.(928-930)Cac>Aac	p.H310N	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.H183N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	310					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.H310N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCATAAGAAACACCAGAAGAA	0.512000													44	96					1.83081e-24	2.22819e-24	0.870114	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140811320A>G	ENST00000252085.3	+	1	1136	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.K332E(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGCCAAAGTCCTGAT	0.517000													7	150					0	0	0.520397	0	0
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:149999767C>A	ENST00000370377.3	-	2	185		c.e2-1		CD99L2_ENST00000437787.2_Splice_Site|CD99L2_ENST00000355149.3_Splice_Site|CD99L2_ENST00000320893.6_Splice_Site|CD99L2_ENST00000346693.4_Splice_Site|CD99L2_ENST00000466436.1_Splice_Site	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion	cell junction|integral to membrane		p.?(4)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGATCCtaaaaattaa	0.289000													21	66					1.10923e-09	1.22449e-09	0.639603	1	0
NUP210L	91181	broad.mit.edu	37	1	154067433	154067433	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:154067433T>G	ENST00000368559.3	-	15	2236	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q722P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	722						integral to membrane		p.Q722P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCCAGGCATTGGATCCGGTA	0.383000													11	67					0	0	0.435327	0	0
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:21234952T>C	ENST00000233242.1	-	26	4915	c.4788A>G	c.(4786-4788)gcA>gcG	p.A1596A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1596					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1596A(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGCAGCAGTGCATTTTGCT	0.408000													97	107					0	0	0.870114	0	0
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:44144038T>A	ENST00000542245.1	+	9	1002	c.964T>A	c.(964-966)Tgg>Agg	p.W322R	CAPN11_ENST00000398776.1_Missense_Mutation_p.W322R			Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.W322R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGAATCCCTGGGGCCGGAT	0.597000													94	88					0	0	0.870114	0	0
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:173703396G>C	ENST00000209884.4	+	3	704	c.568G>C	c.(568-570)Gac>Cac	p.D190H	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	190	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.D190H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGGATAGCAGACAAGTTCAC	0.428000													165	246					0	0	0.870114	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:63235916C>A	ENST00000540857.1	-	4	499	c.367G>T	c.(367-369)Gga>Tga	p.G123*	HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*|HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.G133*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133								p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443000													80	197					1.45978e-39	1.8941e-39	0.870114	1	0
BEST1	7439	broad.mit.edu	37	11	61730375	61730375	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61730375C>G	ENST00000449131.2	+	9	1655	c.1569C>G	c.(1567-1569)ctC>ctG	p.L523L	BEST1_ENST00000301774.9_Silent_p.L211L|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378043.4_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	583					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.L523L(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGTCTGTCCTCCACCTGAACC	0.517000													57	69					0	0	0.870114	0	0
PPTC7	160760	broad.mit.edu	37	12	110977723	110977723	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:110977723G>A	ENST00000354300.3	-	4	918	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	210	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity	p.F210F(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGGACATCGAAAGACGTGC	0.453000													18	117					0	0	0.639603	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711535	162711535	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:162711535T>C	ENST00000375514.5	+	6	792	c.505T>C	c.(505-507)Tat>Cat	p.Y169H	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Y158H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Y158H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Y158H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	158					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.Y158H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGCAAGCCTTATGTGGCTAC	0.378000													30	252					0	0	0.750413	0	0
UFL1	23376	broad.mit.edu	37	6	96997631	96997631	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:96997631G>T	ENST00000369278.4	+	15	1840	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	592					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									CTTAGCTTCGGATTTAATGAT	0.398000													167	295					7.82335e-77	1.07429e-76	0.870114	1	0
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000545453.1_Missense_Mutation_p.S753L|DIS3_ENST00000377780.4_Missense_Mutation_p.S885L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328000										Multiple Myeloma(4;0.011)			34	262					0	0	0.796494	0	0
HTR2C	3358	broad.mit.edu	37	X	113965884	113965884	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:113965884C>A	ENST00000276198.1	+	4	945	c.217C>A	c.(217-219)Ctt>Att	p.L73I	HTR2C_ENST00000371951.1_Missense_Mutation_p.L73I|HTR2C_ENST00000371950.3_Missense_Mutation_p.L73I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	73					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.L73I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGGCAACATCCTTGTGATCAT	0.443000													77	201					5.71386e-39	7.40705e-39	0.870114	1	0
PLCXD3	345557	broad.mit.edu	37	5	41381966	41381966	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:41381966T>G	ENST00000377801.3	-	2	848	c.774A>C	c.(772-774)aaA>aaC	p.K258N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K258N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	258					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.K258N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCCACCCCTTTGACCACAG	0.423000													38	166					0	0	0.870114	0	0
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:8888088C>G	ENST00000256707.3	-	25	3638	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1153R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1153R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGCCGCCAGGGTAATAC	0.403000													91	52					0	0	0.870114	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615413	140615413	+	RNA	SNP	C	C	G	rs3733683	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140615413C>G	ENST00000526308.1	+	0	1476					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGGGACACCCAGGCTGAAAA	0.522000													5	86					0	0	0.248553	0	0
CCDC141	285025	broad.mit.edu	37	2	179742850	179742850	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179742850G>T	ENST00000420890.2	-	12	1857	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	CCDC141_ENST00000409284.1_Missense_Mutation_p.S580R|CCDC141_ENST00000295723.5_Missense_Mutation_p.S5R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	5							protein binding	p.S580R(2)|p.S5R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTCTTTTAAGCTCTGAAACT	0.353000													18	119					9.95505e-16	1.15205e-15	0.624587	1	0
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42730041G>C	ENST00000301215.3	+	3	1711	c.1486G>C	c.(1486-1488)Ggt>Cgt	p.G496R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G496R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GACACACACGGGTGAGAGGCC	0.617000													10	72					0	0	0.387290	0	0
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:218713785T>A	ENST00000171887.4	-	17	1532	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TNS1_ENST00000419504.1_Silent_p.P360P|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Silent_p.P360P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	360						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P485P(2)|p.P360P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCCATCTAGTGGCCCCTGCG	0.597000													116	136					0	0	0.870114	0	0
ABCA9	10350	broad.mit.edu	37	17	67012515	67012515	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:67012515A>T	ENST00000340001.4	-	22	3129	c.2918T>A	c.(2917-2919)aTa>aAa	p.I973K	ABCA9_ENST00000370732.2_Missense_Mutation_p.I973K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I973K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	973					transport	integral to membrane	ATP binding|ATPase activity	p.I973K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTACATGCTATTGAAAATCT	0.343000													63	311					0	0	0.870114	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62751918G>T	ENST00000377871.3	-	1	511	c.245C>A	c.(244-246)aCc>aAc	p.T82N	SLC22A6_ENST00000421062.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T82N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T82N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	82					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.T82N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCGGGGAGGTGAAGCGGAG	0.662000													17	127					7.45023e-12	8.40828e-12	0.592651	1	0
SCN1A	6323	broad.mit.edu	37	2	166866339	166866339	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166866339T>G	ENST00000423058.2	-	20	3909	c.3892A>C	c.(3892-3894)Agt>Cgt	p.S1298R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1287R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1270R|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1298R|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1298						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1287R(1)|p.S1298R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTGTTAAACTGACCAATGAA	0.353000													25	139					0	0	0.717897	0	0
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:70342515C>T	ENST00000558939.1	-	20	3617	c.2240G>A	c.(2239-2241)tGt>tAt	p.C747Y	TLE3_ENST00000559191.1_Missense_Mutation_p.C328Y|TLE3_ENST00000440567.3_Missense_Mutation_p.C737Y|TLE3_ENST00000557997.1_Missense_Mutation_p.C739Y|TLE3_ENST00000560589.1_Missense_Mutation_p.C691Y|TLE3_ENST00000451782.2_Missense_Mutation_p.C744Y|TLE3_ENST00000559048.1_Missense_Mutation_p.C747Y|TLE3_ENST00000539550.1_Missense_Mutation_p.C674Y|TLE3_ENST00000559929.1_Missense_Mutation_p.C757Y|TLE3_ENST00000560939.1_Missense_Mutation_p.C749Y|TLE3_ENST00000317509.8_Missense_Mutation_p.C735Y|TLE3_ENST00000557907.1_Missense_Mutation_p.C739Y|TLE3_ENST00000558379.1_Missense_Mutation_p.C742Y|TLE3_ENST00000442299.2_Missense_Mutation_p.C739Y|TLE3_ENST00000558201.1_Missense_Mutation_p.C753Y			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	747					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.C747Y(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAATGTCACAACTCAAGAC	0.473000													43	93					0	0	0.870114	0	0
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:9416304G>C	ENST00000328089.6	+	2	695	c.354G>C	c.(352-354)gcG>gcC	p.A118A	SPSB1_ENST00000357898.3_Silent_p.A118A|SPSB1_ENST00000377399.2_Silent_p.A118A	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	118	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.A118A(2)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGGCGACGGCAGACG	0.662000													6	4					0	0	0.278610	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509988	41509988	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:41509988G>A	ENST00000324071.4	+	2	261	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R9Q|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R45Q|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	85					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R85Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCATACGGGAGGCCCTT	0.582000													49	266					0	0	0.870114	0	0
PLP1	5354	broad.mit.edu	37	X	103045510	103045510	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:103045510G>A	ENST00000418604.1	+	8	1098	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q|PLP1_ENST00000303958.2_Missense_Mutation_p.R273Q|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	273					cell death|synaptic transmission	integral to membrane		p.R273Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473000													61	332					0	0	0.870114	0	0
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:157551323G>T	ENST00000271532.1	-	7	1382	c.1247C>A	c.(1246-1248)tCa>tAa	p.S416*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	416						integral to membrane|plasma membrane	receptor activity	p.S416*(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCACAAACCTGACTTCCTCCG	0.592000													63	70					1.48634e-54	2.00592e-54	0.870114	1	0
SMURF2	64750	broad.mit.edu	37	17	62558992	62558992	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:62558992C>T	ENST00000262435.9	-	11	1296	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	370					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.R370Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AACCAGGTCTCGCTTGTACCT	0.463000													16	53					0	0	0.539581	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580996	99580996	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99580996C>A	ENST00000425474.1	+	0	317					NR_036679.1																						AGACCCTGAACAACATCATGG	0.562000													44	52					1.02067e-35	1.31468e-35	0.870114	1	0
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:52511514C>A	ENST00000242839.4	-	19	4075	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ATP7B_ENST00000344297.5_Missense_Mutation_p.V1100L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V1196L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V1229L|ATP7B_ENST00000417240.2_Missense_Mutation_p.V518L|ATP7B_ENST00000400370.3_Missense_Mutation_p.V877L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V1242L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.V1307L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTAGCCACCACATCCAGCAAA	0.552000									Wilson disease				68	130					2.36429e-26	2.91006e-26	0.870114	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748388	19748388	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:19748388C>G	ENST00000222567.5	-	1	322	c.252G>C	c.(250-252)gaG>gaC	p.E84D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	84						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E84D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATCGGTACCTCTCAGAATAGC	0.562000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	227					0	0	0.812448	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:38796436C>A	ENST00000449105.2	-	10	1594	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	HNRNPLL_ENST00000409328.1_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000409636.1_Nonsense_Mutation_p.E414*|HNRNPLL_ENST00000378915.3_Nonsense_Mutation_p.E385*	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like									p.E419*(2)									TCCTCCAGCTCAAATATTTGA	0.368000													32	44					2.04263e-09	2.24785e-09	0.796494	1	0
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:73190390T>C	ENST00000541685.1	-	5	488	c.476A>G	c.(475-477)gAg>gGg	p.E159G	DPF3_ENST00000556509.1_Missense_Mutation_p.E159G|DPF3_ENST00000546183.1_Missense_Mutation_p.E169G|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.E159G(4)|p.E158G(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAATCCTCTTCTTCATT	0.418000													170	141					0	0	0.870114	0	0
MIR888	100126306	broad.mit.edu	37	X	145076303	145076303	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:145076303G>C	ENST00000401186.1	-	0	75					NR_030592.1																						TGTACTTGGTGAGCCTTCCTT	0.498000													16	36					0	0	0.624587	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:155555776C>A	ENST00000295101.2	+	1	966	c.489C>A	c.(487-489)ctC>ctA	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572000													14	109					2.62699e-14	3.01538e-14	0.479597	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560240	44560240	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:44560240A>T	ENST00000332567.4	-	1	1748	c.1396T>A	c.(1396-1398)Tca>Aca	p.S466T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	466					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.S466T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGCCTCTGAGAGGTCCCAG	0.602000													14	23					0	0	0.520397	0	0
EPHB1	2047	broad.mit.edu	37	3	134851748	134851748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:134851748G>T	ENST00000398015.3	+	5	1524	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGCAGCTGGGCCTGACGGAG	0.597000													36	87					1.47244e-24	1.79514e-24	0.819951	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057927	152057927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152057927G>T	ENST00000368806.1	-	3	2295	c.2231C>A	c.(2230-2232)tCa>tAa	p.S744*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	744							calcium ion binding	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCTCCTCTGATGTTACAGG	0.468000													56	343					7.91745e-34	1.01151e-33	0.870114	1	0
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677000													4	8					0	0	0.150653	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:238090596G>C	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617000													16	84					0	0	0.520397	0	0
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:40134118G>C	ENST00000181839.4	+	14	4683	c.4078G>C	c.(4078-4080)Gct>Cct	p.A1360P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1300P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1360					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.A1360P(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAGTTCTGCTCCACCACT	0.438000													74	238					0	0	0.870114	0	0
VPS4B	9525	broad.mit.edu	37	18	61060776	61060776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61060776C>T	ENST00000238497.5	-	10	1302	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	367					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.G367R(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGGGAAGGTCCGCGAACCTGA	0.388000													18	86					0	0	0.557998	0	0
FBXL7	23194	broad.mit.edu	37	5	15936692	15936692	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:15936692C>T	ENST00000504595.1	+	4	1354	c.873C>T	c.(871-873)caC>caT	p.H291H	FBXL7_ENST00000329673.7_Silent_p.H279H|FBXL7_ENST00000510662.1_Silent_p.H244H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.H291H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGCCTGCACACCATCGCGG	0.622000													30	90					0	0	0.769981	0	0
THSD7B	80731	broad.mit.edu	37	2	137990695	137990695	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:137990695G>A	ENST00000409968.1	+	9	2320	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M714I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.M683I					thrombospondin, type I, domain containing 7B									p.M714I(1)|p.M683I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACAAGTAATGACCAAAAGGT	0.398000													11	73					0	0	0.387290	0	0
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:136649681G>A	ENST00000287538.5	+	1	1381	c.831G>A	c.(829-831)gaG>gaA	p.E277E	ZIC3_ENST00000370606.3_Silent_p.E277E	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	277					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E277E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCATGCATGAGCTGGTGACAC	0.617000													15	28					0	0	0.500413	0	0
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	C	rs112168960		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:52439604G>C	ENST00000242819.4	+	2	386	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507000													56	344					0	0	0.870114	0	0
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:116691596G>A	ENST00000357780.3	-	3	1292	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.P393L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCTCCAAAGGGGCCAGCAT	0.617000													6	31					0	0	0.217242	0	0
RPL36A	6173	broad.mit.edu	37	X	100646510	100646510	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:100646510G>A	ENST00000427805.2	+	2	287	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.K33K|RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000553110.3_Missense_Mutation_p.V23M	NM_021029.5	NP_066357.2			ribosomal protein L36a									p.V23M(1)|p.T24fs*19(1)|p.V59M(1)		liver(4)|lung(1)|prostate(1)	6						ACCCCATAAAGTGACACAGTA	0.423000													14	190					0	0	0.457914	0	0
DUSP13	51207	broad.mit.edu	37	10	76857569	76857569	+	Missense_Mutation	SNP	G	G	A	rs148137334		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:76857569G>A	ENST00000491677.2	-	6	1003	c.461C>T	c.(460-462)cCg>cTg	p.P154L	DUSP13_ENST00000478873.2_Missense_Mutation_p.P161L|DUSP13_ENST00000605915.1_Missense_Mutation_p.P47L|DUSP13_ENST00000607131.1_Missense_Mutation_p.P118L|DUSP13_ENST00000464872.1_Missense_Mutation_p.P25L|DUSP13_ENST00000372700.3_Missense_Mutation_p.P75L|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.P25L|DUSP13_ENST00000607009.1_5'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	18	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P75L(1)|p.P25L(1)|p.P154L(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAATGTGGGCGGCTGGTAGGG	0.622000													4	24					0	0	0.217242	0	0
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152285143C>A	ENST00000368799.1	-	3	2254	c.2219G>T	c.(2218-2220)cGa>cTa	p.R740L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577000									Ichthyosis				109	847					8.05755e-30	1.00844e-29	0.870114	1	0
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:78340326G>A	ENST00000255189.3	-	6	823	c.795C>T	c.(793-795)ctC>ctT	p.L265L	DMGDH_ENST00000380311.4_Silent_p.L64L|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	265					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L265L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAACCGGAATGAGAGGATGTT	0.373000													23	88					0	0	0.681144	0	0
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428000													33	63					4.32679e-17	5.05687e-17	0.827153	1	0
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	G	A	rs142920790	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:175957454G>A	ENST00000367669.3	-	17	2456	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RFWD2_ENST00000308769.8_Silent_p.L624L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	648					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L648L(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGAAGCCAGGCCTACAAAG	0.398000													80	87					0	0	0.870114	0	0
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:27135155C>A	ENST00000343060.4	-	1	438	c.377G>T	c.(376-378)tGc>tTc	p.C126F	HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGGAGCGCACTGGGGGTA	0.567000													27	60					8.4185e-14	9.63966e-14	0.760397	1	0
PLXND1	23129	broad.mit.edu	37	3	129290609	129290609	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:129290609C>A	ENST00000393239.1	-	16	3334	c.3156G>T	c.(3154-3156)gaG>gaT	p.E1052D	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052D			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCCGACGCTCGAAGCGCA	0.667000													3	16					0.115264	0.115756	0.115264	1	0
ENTHD1	150350	broad.mit.edu	37	22	40140274	40140274	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:40140274C>T	ENST00000325157.6	-	7	1484	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	412								p.E412K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATGCTCCCTCAGAAGCAGTT	0.363000													39	83					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223084905	223084905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:223084905G>T	ENST00000350526.4	-	7	1263	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	PAX3_ENST00000392070.2_Missense_Mutation_p.P376H|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.P376H|PAX3_ENST00000392069.2_Missense_Mutation_p.P376H|PAX3_ENST00000409551.3_Missense_Mutation_p.P375H|PAX3_ENST00000344493.4_Missense_Mutation_p.P376H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	376					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P376H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTTGGAGGGCCCCGACGG	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						10	56					2.27111e-07	2.42928e-07	0.411799	1	0
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:45410214C>G	ENST00000332700.6	-	4	1046	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAATTCTCCCTCCATCTTGG	0.502000													34	210					0	0	0.847076	0	0
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:90346962G>A	ENST00000300060.6	-	8	1666	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	451	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S451S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCGGGTGGGAGGAGGCCAGTG	0.607000													23	54					0	0	0.667858	0	0
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58275540C>G	ENST00000360374.2	-	1	38	c.39G>C	c.(37-39)ttG>ttC	p.L13F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTTAATCCCAAGAGGATAA	0.443000													40	221					0	0	0.870114	0	0
SMG1	23049	broad.mit.edu	37	16	18856973	18856973	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:18856973T>C	ENST00000446231.2	-	39	6409	c.5996_splice	c.e39-1	p.K1999_splice	SMG1_ENST00000389467.3_Splice_Site_p.K1999_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1999					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	p.K1995K(1)|p.K1999K(1)		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						TTTTCTCTTCTCTGACCAAGA	0.363000													51	207					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7092473	7092473	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:7092473C>G	ENST00000299481.4	+	12	3562	c.3216C>G	c.(3214-3216)caC>caG	p.H1072Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1072					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.H1072Q(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAATCCACACTTAATCATTA	0.393000													27	160					0	0	0.729181	0	0
HPS5	11234	broad.mit.edu	37	11	18327041	18327041	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18327041C>T	ENST00000396253.3	-	7	945		c.e7-1		HPS5_ENST00000349215.3_Splice_Site|HPS5_ENST00000438420.2_Splice_Site|HPS5_ENST00000531848.1_Splice_Site	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5							cytosol		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGATCTAGAAAGTAA	0.343000									Hermansky-Pudlak syndrome				14	149					0	0	0.539581	0	0
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55418972C>A	ENST00000312422.2	+	1	593	c.593C>A	c.(592-594)aCa>aAa	p.T198K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T198K(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGTTGTGACAGCCAACAGT	0.453000													191	468					1.84456e-88	2.55777e-88	0.870114	1	0
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:3294475G>C	ENST00000219596.1	-	7	1763	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.S395*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCATCTACCTGAGAAGTACTT	0.507000													9	74					0	0	0.411799	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:51872150G>C	ENST00000371497.5	+	2	3040	c.2153G>C	c.(2152-2154)tGc>tCc	p.C718S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.C715S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.C715S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C718S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCTTCCTGCTCCAGCCCA	0.582000													133	193					0	0	0.870114	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:96454680C>T	ENST00000285979.6	+	4	687	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.P163L	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.P163L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTAGCCTCACCCTGTGATCCC	0.328000													120	283					0	0	0.870114	0	0
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:71004033G>A	ENST00000357250.6	-	5	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	COL9A1_ENST00000370496.3_Missense_Mutation_p.S178F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	178	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S178F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATGCCACTGGGAATCAAACAA	0.423000													35	229					0	0	0.819951	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:80546044A>G	ENST00000265361.3	-	2	615	c.54T>C	c.(52-54)tgT>tgC	p.C18C	SEMA3C_ENST00000544525.1_Silent_p.C36C|SEMA3C_ENST00000419255.2_Silent_p.C18C|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000536800.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					immune response|response to drug	membrane	receptor activity	p.C18C(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCTTTCACACAGATAGAAC	0.348000													48	79					0	0	0.870114	0	0
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55523797C>A	ENST00000305377.5	+	1	333	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82K(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CGGCTGAACACACCAATGTAT	0.388000													212	479					2.63024e-97	3.6616e-97	0.870114	1	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:147230857C>G	ENST00000271348.2	-	2	651	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E164Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000													51	327					0	0	0.870114	0	0
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22133522G>T	ENST00000408935.1	+	1	226	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V76F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCACTCATCTGTCACTGTGCC	0.433000													175	809					2.28453e-81	3.15856e-81	0.870114	1	0
LCK	3932	broad.mit.edu	37	1	32739958	32739958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:32739958G>A	ENST00000333070.4	+	2	128	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	LCK_ENST00000373564.3_Missense_Mutation_p.E10K|LCK_ENST00000336890.5_Missense_Mutation_p.E10K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	10	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.E10K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCACACCCGGAAGATGACTG	0.562000			T	TRB@	T-ALL								18	80					0	0	0.608945	0	0
LCT	3938	broad.mit.edu	37	2	136570072	136570072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:136570072G>T	ENST00000264162.2	-	7	2172	c.2162C>A	c.(2161-2163)tCa>tAa	p.S721*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	721	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S721*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAAGAGGATGAGGTCTGGGG	0.532000													36	186					1.30475e-32	1.65346e-32	0.847076	1	0
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:73213554C>T	ENST00000377110.2	-	20	3036	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	TRPM3_ENST00000423814.3_Silent_p.Q958Q|TRPM3_ENST00000377105.1_Silent_p.Q790Q|TRPM3_ENST00000408909.2_Silent_p.Q790Q|TRPM3_ENST00000396280.5_Silent_p.Q780Q|TRPM3_ENST00000377106.1_Silent_p.Q803Q|TRPM3_ENST00000377111.2_Silent_p.Q931Q|TRPM3_ENST00000396285.1_Silent_p.Q778Q|TRPM3_ENST00000360823.2_Silent_p.Q793Q|TRPM3_ENST00000396292.4_Silent_p.Q803Q|TRPM3_ENST00000357533.2_Silent_p.Q935Q|TRPM3_ENST00000358082.3_Silent_p.Q793Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	956						integral to membrane	calcium channel activity	p.Q803Q(1)|p.Q935Q(1)|p.Q931Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTCACTTTCTGTAGCAACT	0.493000													52	208					0	0	0.870114	0	0
ETV6	2120	broad.mit.edu	37	12	12022496	12022496	+	Missense_Mutation	SNP	T	T	C	rs145477191	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:12022496T>C	ENST00000396373.4	+	5	876	c.602T>C	c.(601-603)cTc>cCc	p.L201P		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	201						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L201P(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGCGGCCCCTCCGGTCCCCC	0.627000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								5	73					0	0	0.184627	0	0
ASIP	434	broad.mit.edu	37	20	32848288	32848288	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32848288G>A	ENST00000568305.1	+	2	310	c.108G>A	c.(106-108)ctG>ctA	p.L36L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L36L			P42127	ASIP_HUMAN	agouti signaling protein	36					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.L36L(1)		central_nervous_system(1)|lung(2)	3						ACAGGAGCCTGAGAAGCAACT	0.582000													27	74					0	0	0.760397	0	0
PTPRG	5793	broad.mit.edu	37	3	62258745	62258745	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:62258745G>A	ENST00000474889.1	+	22	3684	c.3307G>A	c.(3307-3309)Gtc>Atc	p.V1103I	PTPRG_ENST00000295874.10_Missense_Mutation_p.V1074I|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1103	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1103I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TAACTACCTCGTCCAGACTGA	0.423000													16	122					0	0	0.624587	0	0
AHR	196	broad.mit.edu	37	7	17378614	17378614	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:17378614G>A	ENST00000242057.4	+	10	1808	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	389					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.E389K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTTTAGAGATGAGGAAGGAAC	0.299000													8	241					0	0	0.307466	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390760	208390760	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:208390760C>A	ENST00000367033.3	-	2	1265	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	170	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.G170W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAATCACCCCGTACATGGTG	0.587000													68	528					7.14593e-30	8.95141e-30	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:114185958G>A	ENST00000297405.5	-	4	946	c.702C>T	c.(700-702)atC>atT	p.I234I	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.I234I|CSMD3_ENST00000352409.3_Silent_p.I234I|CSMD3_ENST00000343508.3_Silent_p.I194I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	234	Sushi 1.					integral to membrane|plasma membrane		p.I234I(2)|p.I194I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTCTACAGATAGGAACAG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			96	149					0	0	0.870114	0	0
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:25861687A>C	ENST00000376351.3	+	7	1983	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	542						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I542L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGTTTCTCATTGGCTGGAC	0.453000													68	111					0	0	0.870114	0	0
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:31595220G>A	ENST00000379416.3	-	17	1778	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	577					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P577L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGGGGCAGGGGCCGGCCCAC	0.622000													43	118					0	0	0.870114	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762590	130762590	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:130762590C>A	ENST00000392429.1	+	2	3401	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	TMEM200A_ENST00000296978.3_Silent_p.V341V|TMEM200A_ENST00000545622.1_Silent_p.V341V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	341						integral to membrane		p.V341V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAGCCCGTCAGCACAGTGC	0.498000													30	158					6.50621e-10	7.19349e-10	0.769981	1	0
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44149840C>A	ENST00000223357.3	+	11	1600	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632000													5	18					0.0215528	0.0217219	0.217242	1	0
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:40099000C>T	ENST00000261435.6	+	3	456	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	14						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.R14W(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATCCTTTTCGGAAGACTGC	0.413000													59	179					0	0	0.870114	0	0
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	G	T	rs113394891	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:194080147G>T	ENST00000347624.3	-	2	1711	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	LRRC15_ENST00000439944.2_Silent_p.A548A|LRRC15_ENST00000428839.1_Silent_p.A548A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542						integral to membrane		p.A542A(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597000													64	34					2.40982e-25	2.94556e-25	0.870114	1	0
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:136512860A>T	ENST00000308191.6	+	13	1538	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q412L(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AACAAGGCCCAGTGGAAGAGC	0.637000													13	11					0	0	0.479597	0	0
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149433914C>A	ENST00000286301.3	-	21	3025	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	912					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E912*(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGGCCTGCTCCTGAAGGAAG	0.612000													20	80					1.42536e-11	1.6048e-11	0.681144	1	0
IRS1	3667	broad.mit.edu	37	2	227661262	227661262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:227661262G>C	ENST00000305123.4	-	1	3213	c.2193C>G	c.(2191-2193)gaC>gaG	p.D731E		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGTTCATGTAGTCACCTGTGC	0.597000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	0.184627	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:31769448A>G	ENST00000240587.4	-	2	1578	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S234S(2)|p.S417S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTCATAGCAGAGTTGGTGA	0.567000													105	191					0	0	0.870114	0	0
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:20879649G>A	ENST00000332947.4	+	1	718	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61								p.Q61Q(2)		large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GCCGGCGCCAGAAAGTGGAGC	0.692000													3	24					0	0	0.150653	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:35927260C>T	ENST00000490799.1	-	16	2193	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D509N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D614N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	614	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.D614N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGATCATCACAGTTGCAG	0.363000													26	182					0	0	0.750413	0	0
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:214551349G>A	ENST00000366956.5	-	14	2835	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	881					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R881W(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTCTTCCCGCCCTGAGACT	0.547000													49	71					0	0	0.870114	0	0
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:214557780T>A	ENST00000366956.5	-	13	1612	c.1418A>T	c.(1417-1419)aAc>aTc	p.N473I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	473					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.N473I(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCATGGGTGTTGATAATGTT	0.562000													340	210					0	0	0.870114	0	0
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:1639197T>A	ENST00000252804.4	-	22	4353	c.4303A>T	c.(4303-4305)Acc>Tcc	p.T1435S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1435	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1435S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACAAATGGTGCATGCATCT	0.512000													9	7					0	0	0.387290	0	0
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:24593464C>A	ENST00000264463.4	-	2	643	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G46C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAATTTTGCCATCACTCCTT	0.418000										HNSCC(23;0.051)			55	232					2.43698e-19	2.90403e-19	0.870114	1	0
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49611952C>T	ENST00000327171.3	+	9	1318	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	GALK2_ENST00000560031.1_Silent_p.D373D|GALK2_ENST00000396509.2_Silent_p.D349D|GALK2_ENST00000544523.1_Silent_p.D349D|GALK2_ENST00000559454.1_Silent_p.D349D|GALK2_ENST00000543495.1_3'UTR	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	373					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	p.D362D(2)|p.D373D(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCTGCCGGGACATGTATGAGT	0.532000													31	84					0	0	0.796494	0	0
OR2T6	254879	broad.mit.edu	37	1	248551236	248551236	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248551236G>T	ENST00000355728.2	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTATGGGGGCTGAATTCT	0.562000													22	142					2.52088e-20	3.01354e-20	0.639603	1	0
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:48428803C>T	ENST00000224605.2	-	2	1348	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	361					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.T361T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTTCTGCATCGTCTTCTCGT	0.612000													6	21					0	0	0.248553	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:92927019T>C	ENST00000373079.3	-	1	1548	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly	chromatin assembly complex		p.I429V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTGGCTGGATTTCAATTTCT	0.433000													2	5					0	0	0.115264	0	0
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:78422045C>A	ENST00000274353.5	+	6	909	c.802C>A	c.(802-804)Cca>Aca	p.P268T	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.P115T	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P268T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCAGAATTCCCATTTGGTAA	0.433000													11	56					9.31168e-06	9.76068e-06	0.435327	1	0
ZNF682	91120	broad.mit.edu	37	19	20118030	20118030	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:20118030G>A	ENST00000397165.2	-	4	441	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF682_ENST00000595736.1_Missense_Mutation_p.S18L|ZNF682_ENST00000358523.5_Missense_Mutation_p.S62L|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000597972.1_Missense_Mutation_p.S100L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.S62L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S94L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTTTGGAATGAATCTTGCAT	0.368000													12	52					0	0	0.435327	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31813004G>A	ENST00000334067.3	+	1	408	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament		p.S120N(2)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTGGGTCCAGCTTCTACCAC	0.473000													43	197					0	0	0.864702	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:13717013G>T	ENST00000279593.3	-	13	3368	c.3159C>A	c.(3157-3159)gaC>gaA	p.D1053E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1053					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1053E(2)|p.D1053D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCAAGTCGTCGTGGCCAC	0.572000													11	36					1.08611e-07	1.16616e-07	0.387290	1	0
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99308411G>T	ENST00000336374.2	-	10	972	c.970C>A	c.(970-972)Cac>Aac	p.H324N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACATCAGGGTGAGTGGCCAGT	0.448000													74	95					1.10345e-40	1.44235e-40	0.870114	1	0
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:125286264G>C	ENST00000296220.5	-	6	1131	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					lipid transport		lipid binding	p.S281*(2)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTCTGATGTGATGCATGCTG	0.418000													56	223					0	0	0.870114	0	0
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:83332601C>A	ENST00000261722.3	-	19	2538	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	AP3B2_ENST00000535348.1_Silent_p.S745S|AP3B2_ENST00000535359.1_Silent_p.S796S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	777	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.S776S(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCGGACTCCGATGTCATCT	0.572000													16	28					1.3612e-06	1.44073e-06	0.479597	1	0
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:7805972A>G	ENST00000303635.7	+	18	4645	c.4438A>G	c.(4438-4440)Agt>Ggt	p.S1480G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1466G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S44G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1480G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCTCCCGTCAGTGAAATCGC	0.478000			T	WWTR1	epitheliod hemangioendothelioma								35	256					0	0	0.864702	0	0
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113866313C>A	ENST00000383673.2	-	4	905	c.475G>T	c.(475-477)Gta>Tta	p.V159L	DRD3_ENST00000460779.1_Missense_Mutation_p.V159L|DRD3_ENST00000295881.7_Missense_Mutation_p.V159L|DRD3_ENST00000467632.1_Missense_Mutation_p.V159L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	159					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V159L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGGCCAGTACCCAGACGGCC	0.542000													328	327					6.87418e-180	9.63613e-180	0.870114	1	0
PRMT10	90826	broad.mit.edu	37	4	148582162	148582162	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:148582162G>T	ENST00000322396.6	-	7	1223	c.981C>A	c.(979-981)atC>atA	p.I327I	PRMT10_ENST00000541232.1_Silent_p.I214I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	327						cytoplasm	binding|protein methyltransferase activity	p.I327I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGGCAAATGGATACCAGCAA	0.373000													24	107					9.78306e-22	1.17948e-21	0.740014	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													7	51					0	0	0.335167	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647906	56647906	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56647906T>A	ENST00000267116.7	-	8	972	c.851A>T	c.(850-852)aAt>aTt	p.N284I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	284							protein binding	p.N284I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GAGAGCGCCATTGGTGGAGAC	0.552000													12	89					0	0	0.457914	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336924	42336924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42336924G>A	ENST00000262418.6	-	8	790	c.635C>T	c.(634-636)tCa>tTa	p.S212L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	212					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.S212L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCAGATGGTGAGTGCCCTTC	0.602000													21	65					0	0	0.667858	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912725	54912725	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54912725C>T	ENST00000293373.6	+	15	1527	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S433L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	483					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.S483L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTGAATTCTCAGGATTGAGG	0.388000													29	164					0	0	0.779181	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77620118C>A	ENST00000521891.2	+	3	3376	c.2928C>A	c.(2926-2928)caC>caA	p.H976Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H950Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H950Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H950Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	950						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H976Q(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGTGGCTCACATTAAAGAAG	0.443000										HNSCC(33;0.089)			63	142					1.50424e-25	1.84344e-25	0.870114	1	0
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:145537167G>A	ENST00000394434.2	-	10	1030	c.864C>T	c.(862-864)ttC>ttT	p.F288F	LARS_ENST00000274562.9_Silent_p.F261F|LARS_ENST00000545646.1_Silent_p.F242F|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Silent_p.F234F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	288	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378000													9	63					0	0	0.307466	0	0
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:89890150G>C	ENST00000435811.1	-	8	1410	c.956C>G	c.(955-957)cCg>cGg	p.P319R	GABRR1_ENST00000369451.3_Missense_Mutation_p.P249R|GABRR1_ENST00000454853.2_Missense_Mutation_p.P336R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	336					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P330R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGACGCGCGGCATGGAGGC	0.532000													256	227					0	0	0.870114	0	0
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:7001425G>C	ENST00000256722.5	-	3	881	c.882C>G	c.(880-882)atC>atG	p.I294M	CMPK2_ENST00000458098.1_Missense_Mutation_p.I294M|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Missense_Mutation_p.I294M	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	294					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.I294M(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCATCAAAGATCTTCCTCC	0.448000													16	78					0	0	0.539581	0	0
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78574751C>A	ENST00000397909.2	+	30	5791	c.5618C>A	c.(5617-5619)aCc>aAc	p.T1873N	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.T1851N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1674N|NAV3_ENST00000228327.6_Missense_Mutation_p.T1851N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1851N(2)		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						TCAAGCAGCACCTCCTCTTCA	0.448000										HNSCC(70;0.22)			73	162					5.02048e-33	6.38518e-33	0.870114	1	0
AIM1	202	broad.mit.edu	37	6	106968728	106968728	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:106968728G>A	ENST00000369066.3	+	2	2908	c.2421G>A	c.(2419-2421)gtG>gtA	p.V807V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	807							sugar binding	p.V807V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCTCTGGTGATGCCGGAAA	0.453000													6	17					0	0	0.278610	0	0
POT1	25913	broad.mit.edu	37	7	124499043	124499043	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:124499043C>G	ENST00000357628.3	-	9	1268	c.670G>C	c.(670-672)Gat>Cat	p.D224H	POT1_ENST00000393329.1_Missense_Mutation_p.D93H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	224					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.D224H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACATGGTTATCGTAGACTAAA	0.318000													25	159					0	0	0.870114	0	0
RCOR3	55758	broad.mit.edu	37	1	211451575	211451575	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:211451575G>T	ENST00000367005.4	+	5	600	c.459G>T	c.(457-459)caG>caT	p.Q153H	RCOR3_ENST00000452621.2_Missense_Mutation_p.Q211H|RCOR3_ENST00000367006.4_Missense_Mutation_p.Q211H|RCOR3_ENST00000419091.2_Missense_Mutation_p.Q211H	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q153H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATAATCAGGGTGACAGGT	0.378000													100	692					4.94481e-55	6.67974e-55	0.870114	1	0
TANGO6	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:68941453G>T	ENST00000261778.1	+	10	1787	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.G121V(2)|p.G592V(2)									GGTTTGGCAGGAGACTTCTTC	0.502000													29	33					8.58068e-18	1.01375e-17	0.717897	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588901	33588901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:33588901C>A	ENST00000504830.1	-	18	3003	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E805*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	890	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E890*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTCCCACTCCCCTGCCCAC	0.582000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	64					0.00152264	0.00155792	0.592651	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:7578550G>C	ENST00000420246.2	-	5	512	c.380C>G	c.(379-381)tCc>tGc	p.S127C	TP53_ENST00000413465.2_Missense_Mutation_p.S127C|TP53_ENST00000445888.2_Missense_Mutation_p.S127C|TP53_ENST00000455263.2_Missense_Mutation_p.S127C|TP53_ENST00000269305.4_Missense_Mutation_p.S127C|TP53_ENST00000359597.4_Missense_Mutation_p.S127C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	52					0	0	0.740014	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:172659655C>A	ENST00000329198.4	-	2	1165	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	298					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.G298W(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCAAGTCCCCGACGCCGAAG	0.667000													6	6					0.00116845	0.00119725	0.217242	1	0
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:157820536G>T	ENST00000490689.2	-	2	1632	c.99C>A	c.(97-99)acC>acA	p.T33T	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Silent_p.T162T|SHOX2_ENST00000441443.2_Silent_p.T33T|SHOX2_ENST00000425436.3_Silent_p.T162T|SHOX2_ENST00000389589.4_Silent_p.T186T			O60902	SHOX2_HUMAN	short stature homeobox 2	162					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T33T(2)|p.T186T(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGGATAGTGGGTCTCGTCAA	0.597000													57	29					1.77267e-40	2.31495e-40	0.870114	1	0
CCR2	729230	broad.mit.edu	37	3	46401302	46401302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:46401302C>A	ENST00000292301.4	+	3	1561	c.1076C>A	c.(1075-1077)tCa>tAa	p.S359*	CCR2_ENST00000400888.2_Nonsense_Mutation_p.S359*	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	359					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.S359*(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAAGGAAAGTCAATTGGCAGA	0.493000													47	184					2.40265e-35	3.08912e-35	0.870114	1	0
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:24901483G>T	ENST00000251343.5	+	3	1155	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	KHNYN_ENST00000553935.1_Missense_Mutation_p.R339L|KHNYN_ENST00000556842.1_Missense_Mutation_p.R339L			O15037	KHNYN_HUMAN	KH and NYN domain containing	339								p.R339L(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCTCAGTCCCGAGGAGCCTCC	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					1.06961e-07	1.1502e-07	0.278610	1	0
ZMYND8	23613	broad.mit.edu	37	20	45848953	45848953	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:45848953C>G	ENST00000311275.7	-	21	3633	c.3380G>C	c.(3379-3381)aGa>aCa	p.R1127T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.R1075T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R995T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R1154T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R1101T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R1049T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R1101T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R1076T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R1081T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R1018T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R1147T			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1127							protein binding|zinc ion binding	p.R1101T(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGCGTCTCTCTGGAGCCAGA	0.532000											OREG0026003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.217242	0	0
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:104171922G>T	ENST00000374861.3	+	3	2114	c.1830G>T	c.(1828-1830)tgG>tgT	p.W610C	ZNF189_ENST00000339664.2_Missense_Mutation_p.W624C|ZNF189_ENST00000259395.4_Missense_Mutation_p.W582C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W624C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACAGCATGGATGCAATAAA	0.393000													25	127					5.91797e-21	7.08651e-21	0.760397	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:75003878G>T	ENST00000373359.2	-	1	1201	c.1009C>A	c.(1009-1011)Cta>Ata	p.L337I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2.							p.L337I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCCAATAGCTCATCCTGA	0.418000													53	104					2.18419e-29	2.72398e-29	0.870114	1	0
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:61554281T>A	ENST00000263102.6	-	8	1411	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCCGGGGAATTGTAATAAGAC	0.448000			T	RET	NSCLC								111	171					0	0	0.870114	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917436	89917436	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:89917436C>T	ENST00000547474.1	-	3	481	c.115G>A	c.(115-117)Gat>Aat	p.D39N	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Silent_p.R297R|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Silent_p.R294R|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.R125R|POC1B_ENST00000313546.3_Intron														p.R297R(1)									TTCTTGATATCCGCCTGTCCC	0.458000													4	71					0	0	0.150653	0	0
OSBPL6	114880	broad.mit.edu	37	2	179209051	179209051	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179209051G>A	ENST00000392505.2	+	12	1570	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	OSBPL6_ENST00000190611.4_Intron|OSBPL6_ENST00000315022.2_Silent_p.R321R|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000357080.4_Intron	NM_001201480.1	NP_001188409.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	329					lipid transport		lipid binding	p.R342R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCACAACTCGGCGCCGGCAGA	0.542000													88	45					0	0	0.870114	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													37	95					0	0	0.827153	0	0
BRINP3	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:190068179G>T	ENST00000367462.3	-	8	1501	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	FAM5C_ENST00000534846.1_Missense_Mutation_p.H322N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		424						extracellular region		p.H424N(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGCACGAGTGCGTCTCTTCT	0.552000													47	74					8.17542e-46	1.08062e-45	0.870114	1	0
NLRP3	114548	broad.mit.edu	37	1	247599347	247599347	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247599347C>A	ENST00000336119.3	+	6	3320	c.2574C>A	c.(2572-2574)acC>acA	p.T858T	NLRP3_ENST00000391827.2_Silent_p.T801T|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391828.3_Silent_p.T858T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	858					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T858T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATTCCCTGACCAGACTCTATG	0.488000													69	507					1.17611e-34	1.51077e-34	0.870114	1	0
ACSS3	79611	broad.mit.edu	37	12	81528641	81528641	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:81528641G>T	ENST00000548058.1	+	3	1413	c.503G>T	c.(502-504)gGt>gTt	p.G168V	ACSS3_ENST00000261206.3_Missense_Mutation_p.G167V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	168						mitochondrion	acetate-CoA ligase activity|ATP binding	p.G168V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATCAAGAAAGGTGACACTGTG	0.438000													20	156					3.08376e-08	3.33386e-08	0.654019	1	0
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:27086965C>A	ENST00000480456.1	+	10	1428	c.878C>A	c.(877-879)aCa>aAa	p.T293K	JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000312957.5_Missense_Mutation_p.T293K|JAM2_ENST00000425221.2_Missense_Mutation_p.T257K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.T293K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAAGCACACAAAATCCTTT	0.274000													16	41					1.66031e-10	1.84871e-10	0.667858	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:39990940G>A	ENST00000332312.3	-	4	1461	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						proteinaceous extracellular matrix		p.L423L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGGCAGCAGAGAGCCTCGTAA	0.642000													4	37					0	0	0.184627	0	0
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:133403100T>A	ENST00000329321.3	+	2	1752	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L428H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGAGTCTCGAGTCACTA	0.532000													71	77					0	0	0.870114	0	0
RBM19	9904	broad.mit.edu	37	12	114384250	114384250	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:114384250T>C	ENST00000545145.2	-	12	1516	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	RBM19_ENST00000261741.5_Missense_Mutation_p.I480V|RBM19_ENST00000392561.3_Missense_Mutation_p.I480V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.I480V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTTCTTGATGGTAGATGGT	0.562000													52	110					0	0	0.870114	0	0
MED12L	116931	broad.mit.edu	37	3	150881826	150881826	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:150881826G>T	ENST00000474524.1	+	8	1292	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	MED12L_ENST00000422248.2_Missense_Mutation_p.Q418H|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.Q418H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	418					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q418H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCAATCAGCAGGTAGACT	0.512000													43	300					4.17328e-34	5.34135e-34	0.870114	1	0
FAM21EP	100421577	broad.mit.edu	37	10	51826390	51826390	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:51826390G>T	ENST00000456967.1	-	0	1173					NR_038275.1																						GCACATAGGAGGGCGTTTCAA	0.398000													8	25					5.18039e-06	5.43826e-06	0.278610	1	0
DOCK2	1794	broad.mit.edu	37	5	169267790	169267790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:169267790C>G	ENST00000256935.8	+	27	2813	c.2733C>G	c.(2731-2733)atC>atG	p.I911M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.I403M|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	911					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.I911M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGAGATCATGGTCCAGC	0.473000													47	179					0	0	0.870114	0	0
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:59112366T>A	ENST00000395153.3	+	4	1061	c.914T>A	c.(913-915)aTt>aAt	p.I305N	DACT1_ENST00000395151.3_Missense_Mutation_p.I61N|DACT1_ENST00000541264.2_Missense_Mutation_p.I61N|DACT1_ENST00000335867.4_Missense_Mutation_p.I342N|DACT1_ENST00000556859.1_Missense_Mutation_p.I61N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	342					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.I342N(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GATGGCTACATTCTGAGCCTG	0.517000													37	28					0	0	0.819951	0	0
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:71800926T>C	ENST00000373545.3	-	32	3910	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	PHKA1_ENST00000373539.3_Missense_Mutation_p.M1217V|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1187V|PHKA1_ENST00000373542.4_Missense_Mutation_p.M1200V|PHKA1_ENST00000541944.1_Missense_Mutation_p.M1128V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1200					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M1200V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTAGGTCATGGTGCCAAAC	0.562000													19	49					0	0	0.592651	0	0
DDX17	10521	broad.mit.edu	37	22	38891885	38891885	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:38891885C>A	ENST00000396821.3	-	6	895	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	DDX17_ENST00000381633.3_Missense_Mutation_p.D187Y|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	187	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D266Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGCCATAGTCATCGGCCACC	0.438000													24	193					1.39806e-14	1.60867e-14	0.729181	1	0
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:66357977T>A	ENST00000333861.3	-	1	2577	c.2510A>T	c.(2509-2511)cAc>cTc	p.H837L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837								p.H837L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGTTGACTGGTGGGGATCCTT	0.577000													28	56					0	0	0.740014	0	0
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:56138681G>T	ENST00000319441.4	+	6	1023	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A155S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	287					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A287S(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542000													34	37					2.87052e-16	3.33282e-16	0.812448	1	0
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:42176906G>T	ENST00000520810.1	+	14	1669	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E493*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E436*|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E272*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	495					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.E495*(2)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GATTGACCTGGAGAAGTACAG	0.428000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	163					1.26252e-74	1.7303e-74	0.870114	1	0
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:125486593G>A	ENST00000259466.1	+	1	325	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATGGCATTTGGGAACACTGA	0.473000													122	132					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:170112651T>A	ENST00000263816.3	-	19	3020	c.2735A>T	c.(2734-2736)cAg>cTg	p.Q912L	LRP2_ENST00000443831.1_Missense_Mutation_p.Q775L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	912					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Q912L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTGTCATCTGCTCTATATG	0.363000													183	194					0	0	0.870114	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751805	140751805	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140751805G>T	ENST00000576222.1	+	1	1975	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCCGGGCTGTTCAGC	0.687000													14	28					2.35188e-11	2.64376e-11	0.539581	1	0
IGHM	3507	broad.mit.edu	37	14	106321585	106321585	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:106321585C>T	ENST00000390559.2	-	0	648																											GGTCACTCACCGGGGCCACAC	0.637000													4	6					0	0	0.150653	0	0
KIAA0247	9766	broad.mit.edu	37	14	70170156	70170156	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:70170156C>T	ENST00000342745.4	+	3	479	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	56	Sushi.					integral to membrane		p.H56Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTACATCTGCCACCCCCGGCC	0.572000													21	108					0	0	0.681144	0	0
GABRR1	2569	broad.mit.edu	37	6	89888774	89888774	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:89888774G>A	ENST00000435811.1	-	9	1558	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	GABRR1_ENST00000369451.3_Silent_p.C298C|GABRR1_ENST00000454853.2_Silent_p.C385C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	385					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.C379C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCCGCTGGTGCAGGGAAGCT	0.542000													6	116					0	0	0.248553	0	0
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:25589787C>A	ENST00000269141.3	-	5	1019	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CDH2_ENST00000399380.3_Missense_Mutation_p.G168V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	199	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G199V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTCCTGGCCCAGTTACACT	0.488000													53	139					5.0973e-17	5.95247e-17	0.870114	1	0
WDR64	128025	broad.mit.edu	37	1	241815796	241815796	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:241815796A>G	ENST00000366552.2	+	1	217	c.10A>G	c.(10-12)Agg>Ggg	p.R4G	WDR64_ENST00000437684.2_Missense_Mutation_p.R4G	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	4								p.R4G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATGGATATCAGGAAGGAAAA	0.403000													2	1					0	0	0.115264	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962399	235962399	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:235962399C>T	ENST00000409212.1	+	6	3338	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	SH3BP4_ENST00000392011.2_Missense_Mutation_p.S944F|SH3BP4_ENST00000344528.4_Missense_Mutation_p.S944F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	944					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.S944F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTGAACTCCCTGGACGTT	0.597000													24	172					0	0	0.729181	0	0
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178040602C>G	ENST00000316308.4	-	7	866	c.698G>C	c.(697-699)gGt>gCt	p.G233A		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G233A(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACAAACATGACCATGATGATC	0.348000													30	70					0	0	0.788014	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140308879G>A	ENST00000253807.2	+	1	2402	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R801K	NM_018898.3	NP_061721.2												p.R801K(2)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGGAATAGGAAAGGGGAT	0.448000													57	135					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179612234	179612234	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179612234G>C	ENST00000360870.5	-	46	15115	c.14893C>G	c.(14893-14895)Cct>Gct	p.P4965A	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1082	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACTCAGGAGAAAGTGGA	0.393000													45	302					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170134418	170134418	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:170134418T>C	ENST00000263816.3	-	13	1894	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	537					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.K537E(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTCCAGCTTAGGTTCCCCA	0.423000													34	293					0	0	0.827153	0	0
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:33673054C>G	ENST00000354992.2	-	15	2636	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	LARGE_ENST00000402320.1_Missense_Mutation_p.D637H|LARGE_ENST00000337431.2_Missense_Mutation_p.D637H|LARGE_ENST00000437602.2_Missense_Mutation_p.D640H|LARGE_ENST00000452586.2_Missense_Mutation_p.D488H|LARGE_ENST00000397394.2_Missense_Mutation_p.D689H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	689					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.D689H(1)		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)				ACCTGCACATCCAGCTCCATG	0.532000													17	113					0	0	0.624587	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762481	140762481	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140762481G>C	ENST00000518325.1	+	1	15	c.15G>C	c.(13-15)ccG>ccC	p.P5P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1												p.P5P(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCAGCCGAGGGGCGGGG	0.612000											OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	0.307466	0	0
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:90642323G>T	ENST00000257749.4	-	9	3037	c.2330C>A	c.(2329-2331)cCc>cAc	p.P777H	BACH2_ENST00000537989.1_Missense_Mutation_p.P777H|BACH2_ENST00000343122.3_Missense_Mutation_p.P777H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	777						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P777H(4)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGTCCGGGGGGAGCCGC	0.632000													12	10					5.01169e-05	5.19936e-05	0.520397	1	0
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:104120405G>T	ENST00000361355.4	+	11	1900	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	428					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G428G(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGATAATGGGAGCAACCAAG	0.348000													64	349					4.85316e-53	6.52476e-53	0.870114	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008905	88008905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:88008905G>T	ENST00000276127.4	+	3	749	c.490G>T	c.(490-492)Gct>Tct	p.A164S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A164S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	164						intracellular	zinc ion binding	p.A164S(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCTCTCAGGCTGCAGGGTG	0.388000													35	88					2.52449e-32	3.19346e-32	0.827153	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565707	33565707	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:33565707T>A	ENST00000321505.4	+	1	1887	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D569E|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D569E					KIAA1549-like									p.D569E(2)									ATGGAACAGATACAGGTTCTG	0.453000													44	163					0	0	0.870114	0	0
CDK11A	728642	broad.mit.edu	37	1	1647827	1647827	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:1647827T>A	ENST00000356200.3	-	4	578	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	CDK11A_ENST00000357760.2_Missense_Mutation_p.Q139L|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q139L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q139L|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q115L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q149L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q139L					cyclin-dependent kinase 11A									p.E149V(1)|p.Q139L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTTCTCTTCTGTCTTTCCCA	0.502000													6	57					0	0	0.557998	0	0
CADPS2	93664	broad.mit.edu	37	7	122526107	122526107	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:122526107G>T	ENST00000334010.7	-	1	706	c.285C>A	c.(283-285)atC>atA	p.I95I	CADPS2_ENST00000449022.2_Silent_p.I95I|CADPS2_ENST00000313070.7_Silent_p.I95I|CADPS2_ENST00000412584.2_Silent_p.I95I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	95					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.I95I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGGGTACGCGATGCACCTCA	0.667000													5	6					0.0215528	0.0217219	0.217242	1	0
LAMP5	24141	broad.mit.edu	37	20	9498764	9498764	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:9498764C>G	ENST00000246070.2	+	5	1045	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q141E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	185						integral to membrane		p.Q185E(1)									GTGTCAAGCTCAACAAACCAT	0.522000													17	107					0	0	0.557998	0	0
NOVA1	4857	broad.mit.edu	37	14	26941598	26941598	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:26941598C>A	ENST00000539517.2	-	4	765		c.e4-1		NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000547619.1_Splice_Site|NOVA1_ENST00000344429.5_Splice_Site	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGGCAATGTCTGGGAAACAA	0.378000													27	54					2.46105e-21	2.95955e-21	0.750413	1	0
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:4186205C>T	ENST00000396981.2	-	5	603	c.438G>A	c.(436-438)agG>agA	p.R146R	UBE2G1_ENST00000572484.1_Silent_p.R75R	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R146R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTCTATCTTCCCTCCATTCTT	0.323000													15	21					0	0	0.592651	0	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													8	11					0	0	0.335167	0	0
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76349447T>A	ENST00000263187.3	+	15	2152	c.2048T>A	c.(2047-2049)aTg>aAg	p.M683K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	683					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.M683K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGACCAAACATGAGTGGAAAA	0.343000								Mismatch excision repair (MMR)					30	125					0	0	0.819951	0	0
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:146256096C>A	ENST00000367503.3	-	13	3335	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	SHPRH_ENST00000367505.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q979H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	979					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.Q979H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GACAGCAGGCCTGTCTGAGCC	0.443000													50	78					4.6707e-30	5.85599e-30	0.870114	1	0
NXF4	55999	broad.mit.edu	37	X	101818873	101818873	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:101818873G>A	ENST00000360035.2	+	0	1157					NR_002216.1													p.S138S(1)		endometrium(2)|lung(8)	10						AGCTGAAGTCGGCTTGGGAGT	0.552000													24	45					0	0	0.717897	0	0
ELN	2006	broad.mit.edu	37	7	73461085	73461085	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:73461085C>G	ENST00000252034.7	+	12	1030	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	ELN_ENST00000358929.4_Missense_Mutation_p.P211A|ELN_ENST00000320492.7_Missense_Mutation_p.P189A|ELN_ENST00000445912.1_Missense_Mutation_p.P211A|ELN_ENST00000458204.1_Missense_Mutation_p.P201A|ELN_ENST00000380553.4_Missense_Mutation_p.P108A|ELN_ENST00000357036.5_Missense_Mutation_p.P216A|ELN_ENST00000380575.4_Missense_Mutation_p.P201A|ELN_ENST00000380576.5_Missense_Mutation_p.P211A|ELN_ENST00000380584.4_Missense_Mutation_p.P211A|ELN_ENST00000320399.6_Missense_Mutation_p.P211A|ELN_ENST00000414324.1_Missense_Mutation_p.P206A|ELN_ENST00000429192.1_Missense_Mutation_p.P216A|ELN_ENST00000380562.4_Missense_Mutation_p.P211A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	211					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.P211A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CATCAAGGCCCCCAAGCTGCC	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						4	33					0	0	0.217242	0	0
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:151170615G>T	ENST00000394123.3	+	4	488	c.343G>T	c.(343-345)Gct>Tct	p.A115S	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.A115S			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	115	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.A115S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTTTGTCCTTGCTCCTGAGGT	0.393000													55	229					3.95532e-38	5.11333e-38	0.870114	1	0
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:29600034C>T	ENST00000431530.3	+	1	1287	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	400						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S410F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACAGGGCTCTGCTTCCTTA	0.547000													7	44					0	0	0.307466	0	0
PALD1	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:72292391C>A	ENST00000263563.6	+	6	916	c.648C>A	c.(646-648)gcC>gcA	p.A216A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A216A(1)									ACGACTTTGCCCAGCTGAGCG	0.587000													39	252					3.05275e-18	3.62177e-18	0.864702	1	0
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:44703735G>A	ENST00000339042.4	+	1	487	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A119A(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTGCCTTGCGTACCTCATGA	0.587000													56	265					0	0	0.870114	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64815843G>A	ENST00000358658.3	-	9	1240	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	NAALADL1_ENST00000355369.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R364C|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R456C|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R370C	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	405	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R405C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATTGATCTGCGAGGACGCCAG	0.597000													6	22					0	0	0.217242	0	0
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:22363185C>A	ENST00000397121.2	-	3	1651	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G445V(2)		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)				GGGTTTCTCTCCAGCATGAAT	0.428000													67	138					8.41775e-28	1.04427e-27	0.870114	1	0
WIPF1	7456	broad.mit.edu	37	2	175436880	175436880	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:175436880G>C	ENST00000392547.2	-	5	752	c.653C>G	c.(652-654)aCt>aGt	p.T218S	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S|WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S|WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGGGGAGGAGTGGGCCCGGG	0.657000													10	42					0	0	0.479597	0	0
HDC	3067	broad.mit.edu	37	15	50534775	50534775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50534775G>T	ENST00000267845.3	-	12	2073	c.1671C>A	c.(1669-1671)gcC>gcA	p.A557A	HDC_ENST00000543581.1_Silent_p.A524A	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	557					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGGCATCTGGGGCCTCTTCTG	0.542000													54	88					5.12918e-33	6.51756e-33	0.870114	1	0
MFN1	55669	broad.mit.edu	37	3	179085375	179085375	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:179085375A>T	ENST00000471841.1	+	8	1028	c.902A>T	c.(901-903)gAa>gTa	p.E301V	MFN1_ENST00000280653.7_Missense_Mutation_p.E301V|MFN1_ENST00000263969.5_Missense_Mutation_p.E301V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	301					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.E301V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGGATGCCAGAAAGTGGTATG	0.393000													4	22					0	0	0.184627	0	0
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:98807550C>T	ENST00000266058.4	-	16	1776	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V511M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	511	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V511M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGACAGACCACGTCGCTGTTG	0.647000													5	26					0	0	0.184627	0	0
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:25887236C>A	ENST00000376351.3	+	11	3040	c.2681C>A	c.(2680-2682)cCa>cAa	p.P894Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	894						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P894Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGGGCACCCACGAACATCG	0.517000													88	291					1.13981e-37	1.47217e-37	0.870114	1	0
DNHD1	144132	broad.mit.edu	37	11	6588332	6588332	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6588332A>T	ENST00000254579.6	+	36	12157	c.11593A>T	c.(11593-11595)Agc>Tgc	p.S3865C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3865C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3865					microtubule-based movement	dynein complex	microtubule motor activity	p.S3865C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGGCCCTAAGCCAACTGCA	0.507000													15	66					0	0	0.479597	0	0
PGBD2	267002	broad.mit.edu	37	1	249210873	249210873	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:249210873G>T	ENST00000539153.1	+	4	336	c.81G>T	c.(79-81)atG>atT	p.M27I	PGBD2_ENST00000329291.5_Missense_Mutation_p.M30I|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30								p.M30I(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAATGCTATGGAGGAGGAAG	0.478000													14	100					7.07596e-05	7.33553e-05	0.539581	1	0
SEMA3D	223117	broad.mit.edu	37	7	84628913	84628913	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:84628913C>G	ENST00000284136.6	-	17	2220	c.2177G>C	c.(2176-2178)aGc>aCc	p.S726T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	726					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGGTCGAGGCTGAAGTTTGG	0.512000													13	94					0	0	0.435327	0	0
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:150912332C>A	ENST00000329903.4	+	6	1390	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R453S(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAAGTGCGCATCTTCCA	0.507000													37	258					6.45866e-13	7.34789e-13	0.840704	1	0
AP3D1	8943	broad.mit.edu	37	19	2121257	2121257	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:2121257G>A	ENST00000355272.6	-	13	1361	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	AP3D1_ENST00000350812.6_Silent_p.D216D|AP3D1_ENST00000345016.5_Silent_p.D385D|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Silent_p.D294D	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	385					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.D385D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTGCCTTGTCTACGTGGG	0.547000													25	46					0	0	0.706142	0	0
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:94544950C>A	ENST00000370225.3	-	9	1253	c.1167G>T	c.(1165-1167)gcG>gcT	p.A389A	ABCA4_ENST00000535735.1_Silent_p.A389A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	389					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A389A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGCTTTGCCGCCCTCCAAG	0.473000													73	253					1.59627e-33	2.03568e-33	0.870114	1	0
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:232894773C>T	ENST00000325385.7	+	5	625	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117S|DIS3L2_ENST00000409307.1_Missense_Mutation_p.P117S|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117S|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	117							exonuclease activity|ribonuclease activity|RNA binding	p.P117S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAAACTGCTTCCCGAGGAGCA	0.428000													151	212					0	0	0.870114	0	0
TREX1	11277	broad.mit.edu	37	3	48508518	48508518	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:48508518G>C	ENST00000296443.9	+	3	1351	c.464G>C	c.(463-465)aGc>aCc	p.S155T	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Missense_Mutation_p.S145T|TREX1_ENST00000456089.1_Missense_Mutation_p.S16T|TREX1_ENST00000436480.2_Missense_Mutation_p.S155T|TREX1_ENST00000433541.1_Missense_Mutation_p.S16T|TREX1_ENST00000422277.2_Missense_Mutation_p.S210T			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	210					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTGTGGATAGCATCACTGCG	0.602000													7	41					0	0	0.335167	0	0
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:98242849C>G	ENST00000430669.2	-	6	1155	c.570G>C	c.(568-570)tgG>tgC	p.W190C	PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Missense_Mutation_p.W105C|PTCH1_ENST00000375274.2_Missense_Mutation_p.W255C|PTCH1_ENST00000437951.1_Missense_Mutation_p.W190C|PTCH1_ENST00000331920.6_Missense_Mutation_p.W256C|PTCH1_ENST00000429896.2_Missense_Mutation_p.W105C|PTCH1_ENST00000418258.1_Missense_Mutation_p.W105C			Q13635	PTC1_HUMAN	patched 1	256					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W256C(4)|p.W255C(4)|p.W256*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGAAGTTTGTCCACCGCAAAG	0.458000													28	102					0	0	0.760397	0	0
FLT1	2321	broad.mit.edu	37	13	28880878	28880878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:28880878G>T	ENST00000282397.4	-	29	4003	c.3752C>A	c.(3751-3753)gCc>gAc	p.A1251D	FLT1_ENST00000543394.1_Missense_Mutation_p.A274D|FLT1_ENST00000540678.1_Missense_Mutation_p.A469D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1251					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A1251D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATGGGAGAGGCCAACAGAGT	0.547000													62	103					3.19358e-47	4.23314e-47	0.870114	1	0
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:65357812G>A	ENST00000373758.4	+	4	394	c.211G>A	c.(211-213)Gct>Act	p.A71T	REEP3_ENST00000298249.4_Missense_Mutation_p.A56T	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71						integral to membrane		p.A71T(2)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAGATTGCTTTTGTCAT	0.348000													40	68					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:78412823T>C	ENST00000278550.7	-	28	5297	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.Y1612C(4)									GTCCCCAGTGTAGGTGAAGTT	0.537000													60	349					0	0	0.870114	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308788	17308788	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:17308788G>A	ENST00000425038.1	+	0	425					NR_003607.1																						AAGAAAATTTGGAAATAAAGG	0.299000													4	14					0	0	0.150653	0	0
ZP4	57829	broad.mit.edu	37	1	238050702	238050702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:238050702G>A	ENST00000366570.4	-	5	871	c.713C>T	c.(712-714)cCa>cTa	p.P238L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	238	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P238L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAAGTAAATGGAAACTGGAA	0.522000													88	648					0	0	0.870114	0	0
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:86868907G>C	ENST00000373119.4	+	2	595	c.450G>C	c.(448-450)atG>atC	p.M150I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M150I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	150						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M150I(4)		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						CTGAAGACATGAATGCCACCA	0.338000													32	89					0	0	0.840704	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:107298654C>A	ENST00000374781.2	-	1	483	c.441G>T	c.(439-441)atG>atT	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000													335	436					2.04947e-163	2.87007e-163	0.870114	1	0
KIAA1524	57650	broad.mit.edu	37	3	108273323	108273323	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:108273323C>G	ENST00000295746.8	-	18	2300	c.2224G>C	c.(2224-2226)Gaa>Caa	p.E742Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E583Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	742						cytoplasm|integral to membrane	protein binding	p.E742Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTTCTTTTCAGTACTTTCA	0.313000													5	35					0	0	0.184627	0	0
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:69456155A>C	ENST00000227507.2	+	1	301	c.74A>C	c.(73-75)gAc>gCc	p.D25A	CCND1_ENST00000536559.1_Missense_Mutation_p.D25A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	25					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.D25A(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTCCTCAACGACCGGGTGCTG	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			8	17					0	0	0.335167	0	0
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:70406705A>G	ENST00000373644.4	+	4	4428	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1407					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.T1407A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTAACCCTACAAAAAACCT	0.388000													29	65					0	0	0.750413	0	0
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:176838157G>T	ENST00000367654.2	-	22	3507	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1157E			O14525	ASTN1_HUMAN	astrotactin 1	1165					cell migration|neuron cell-cell adhesion	integral to membrane		p.A1157E(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATCTTGTCTGCTATTTCTGA	0.383000													86	132					6.08224e-66	8.27161e-66	0.870114	1	0
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:43292056G>T	ENST00000374518.4	+	10	1427	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	455					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.G455V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGATGACGGGTTGGAAAAC	0.438000													141	719					9.55952e-61	1.29507e-60	0.870114	1	0
MFSD11	79157	broad.mit.edu	37	17	74740468	74740468	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:74740468C>T	ENST00000588460.1	+	7	2603	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MFSD11_ENST00000593181.1_Silent_p.F135F|MFSD11_ENST00000590514.1_Silent_p.F187F|MFSD11_ENST00000336509.4_Silent_p.F187F|MFSD11_ENST00000586622.1_Silent_p.F187F|MFSD11_ENST00000355954.3_Silent_p.F135F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	187						integral to membrane		p.F187F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGTTCTATTCTTTCTCATTC	0.418000													11	78					0	0	0.435327	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247065962C>T	ENST00000366508.1	-	8	1223	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E328K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E337K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	328	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E328K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATCTTTCTTCACAGTATTCT	0.368000													54	239					0	0	0.870114	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:116949479C>T	ENST00000229554.5	+	3	1746	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	RSPH4A_ENST00000368581.4_Silent_p.L537L|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	537	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.L537L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGATTGATCTAGTAGAATC	0.428000									Kartagener syndrome				99	398					0	0	0.870114	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855270	22855270	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:22855270C>G	ENST00000283645.4	+	13	1861	c.1731C>G	c.(1729-1731)agC>agG	p.S577R	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S577R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	577					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.S577R(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGCGGAGAGCACCACCTGCC	0.557000													7	17					0	0	0.278610	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:71039605C>A	ENST00000272367.2	-	5	1589	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A505S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	505	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.A505S(2)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCACAGATGCCAGATGGGCT	0.512000													77	64					2.79064e-53	3.7554e-53	0.870114	1	0
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18313334C>T	ENST00000396253.3	-	15	2215	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	HPS5_ENST00000349215.3_Missense_Mutation_p.E699K|HPS5_ENST00000438420.2_Missense_Mutation_p.E585K|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	699						cytosol		p.E699K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGATTCTTCATTGCCTAAA	0.363000									Hermansky-Pudlak syndrome				33	231					0	0	0.788014	0	0
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:45002126C>A	ENST00000372176.1	-	16	1532	c.1064G>T	c.(1063-1065)cGa>cTa	p.R355L	ELMO2_ENST00000352077.2_Missense_Mutation_p.R441L|ELMO2_ENST00000396391.1_Missense_Mutation_p.R443L|ELMO2_ENST00000439931.2_Missense_Mutation_p.R455L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R260L|ELMO2_ENST00000290246.6_Missense_Mutation_p.R443L|ELMO2_ENST00000454865.2_Missense_Mutation_p.R175L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.R443L(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCAAAGGCTCGGTCATGGGT	0.498000													84	186					2.05045e-34	2.62911e-34	0.870114	1	0
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:44503035G>T	ENST00000260649.6	+	1	437	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G121W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	121					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.G121W(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTGGCAGGAGGGGCCCATGTA	0.542000													252	256					3.78666e-150	5.29758e-150	0.870114	1	0
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:22040786G>T	ENST00000256906.4	+	1	194	c.94G>T	c.(94-96)Gga>Tga	p.G32*	HRH4_ENST00000426880.2_Nonsense_Mutation_p.G32*	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	32						integral to membrane|plasma membrane	histamine receptor activity	p.G32*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATAATGCTAGGAAATGCTTT	0.353000													64	106					5.32961e-40	6.928e-40	0.870114	1	0
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50555455T>A	ENST00000267845.3	-	2	583	c.181A>T	c.(181-183)Att>Ttt	p.I61F	HDC_ENST00000543581.1_Missense_Mutation_p.I61F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	61					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.I61F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATTCGTTCAATGTCCCCAAAG	0.597000													220	330					0	0	0.870114	0	0
OR2T33	391195	broad.mit.edu	37	1	248436952	248436952	+	Silent	SNP	C	C	G	rs149193117		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248436952C>G	ENST00000318021.2	-	1	186	c.165G>C	c.(163-165)acG>acC	p.T55T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T55T(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTACATGGGCGTGTGGAGCC	0.517000													18	477					0	0	0.853193	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035128	107035128	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:107035128G>A	ENST00000390626.2	-	0	93																											TTGGAGAACAGCCAGGAGGAG	0.577000													16	49					0	0	0.608945	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870201	36870201	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36870201G>T	ENST00000279024.4	-	3	603	c.332C>A	c.(331-333)cCc>cAc	p.P111H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCCTCCTGGGGCTCCACTTG	0.562000													51	300					1.67886e-27	2.07908e-27	0.870114	1	0
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:71227747T>A	ENST00000554752.2	-	3	972	c.973A>T	c.(973-975)Atg>Ttg	p.M325L	MAP3K9_ENST00000554146.1_Missense_Mutation_p.M62L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.M325L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.M19L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.M325L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	325	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.M325L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGAAAACATGGAGGCCCGG	0.557000													228	291					0	0	0.870114	0	0
BFSP1	631	broad.mit.edu	37	20	17475142	17475142	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:17475142C>A	ENST00000377873.3	-	8	1614	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	BFSP1_ENST00000544874.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000536626.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000377868.2_Missense_Mutation_p.Q400H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	525	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.Q525H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCAGACCCACCTGCCCATTCT	0.547000													20	44					1.10923e-09	1.22449e-09	0.639603	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:57995949C>T	ENST00000316770.2	-	1	441	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612000													87	136					0	0	0.870114	0	0
PTPRR	5801	broad.mit.edu	37	12	71094993	71094993	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:71094993G>A	ENST00000283228.2	-	7	1570	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	PTPRR_ENST00000378778.1_Missense_Mutation_p.S167L|PTPRR_ENST00000549308.1_Missense_Mutation_p.S128L|PTPRR_ENST00000342084.4_Missense_Mutation_p.S261L|PTPRR_ENST00000440835.2_Missense_Mutation_p.S128L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	373					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S373L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCTGGCTGACTGCAGATA	0.458000													42	221					0	0	0.870114	0	0
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:99227767G>T	ENST00000375249.4	+	3	736	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	221					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	p.G221W(2)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAGATATGGTGGGAATGACAA	0.418000													84	187					6.23493e-48	8.29562e-48	0.870114	1	0
SRCAP	10847	broad.mit.edu	37	16	30732215	30732215	+	Missense_Mutation	SNP	G	G	T	rs141288104		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:30732215G>T	ENST00000262518.4	+	20	3554	c.3169G>T	c.(3169-3171)Ggg>Tgg	p.G1057W	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057W|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			CTCACCTGCCGGGCCCCCGCT	0.637000													33	93					1.02687e-29	1.2829e-29	0.864702	1	0
PCID2	55795	broad.mit.edu	37	13	113838759	113838759	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:113838759C>T	ENST00000375457.2	-	9	1176	c.580G>A	c.(580-582)Gac>Aac	p.D194N	PCID2_ENST00000337344.4_Missense_Mutation_p.D196N|PCID2_ENST00000246505.5_Missense_Mutation_p.D250N|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Missense_Mutation_p.D196N|PCID2_ENST00000375479.2_Missense_Mutation_p.D196N|PCID2_ENST00000375459.1_Missense_Mutation_p.D194N|PCID2_ENST00000351317.3_Missense_Mutation_p.D173N	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	196					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	p.D250N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TTTGAGCTGTCAATTGCTCTA	0.348000													44	131					0	0	0.847076	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180166157C>A	ENST00000307832.2	-	1	942	c.902G>T	c.(901-903)tGg>tTg	p.W301L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W301L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTACTTTCCACAGAGCCCC	0.418000													33	108					2.13384e-23	2.58143e-23	0.870114	1	0
ENOX1	55068	broad.mit.edu	37	13	43930179	43930179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:43930179C>A	ENST00000261488.6	-	8	1276	c.699G>T	c.(697-699)agG>agT	p.R233S	ENOX1_ENST00000540032.1_Missense_Mutation_p.R46S|ENOX1_ENST00000412891.1_Missense_Mutation_p.R233S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	233					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R233S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCACGCATCCTCTGCTTGC	0.617000													28	76					0.000147802	0.000152887	0.706142	1	0
ATRNL1	26033	broad.mit.edu	37	10	116925403	116925403	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:116925403C>G	ENST00000355044.3	+	7	1216	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	364						integral to membrane	sugar binding	p.Q364E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTTTATATCAGGTATGGCT	0.313000													54	215					0	0	0.870114	0	0
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:26155990G>T	ENST00000381655.2	+	23	2183	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D641Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	641					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D681Y(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATAGAAGATCGCCTTCA	0.393000													109	258					1.30882e-70	1.78682e-70	0.870114	1	0
SENP7	57337	broad.mit.edu	37	3	101056447	101056447	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:101056447C>T	ENST00000394095.2	-	17	2439	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SENP7_ENST00000314261.7_Missense_Mutation_p.E730K|SENP7_ENST00000348610.3_Missense_Mutation_p.E763K|SENP7_ENST00000394091.1_Missense_Mutation_p.E632K|SENP7_ENST00000394094.2_Missense_Mutation_p.E731K|SENP7_ENST00000358203.3_Missense_Mutation_p.E632K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	796	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.E730K(1)|p.E796K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACAAGTTCATCTGATGCC	0.318000													27	192					0	0	0.812448	0	0
ADAM17	6868	broad.mit.edu	37	2	9633917	9633917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:9633917C>T	ENST00000310823.3	-	16	2134	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	651	Crambin-like.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.R651Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATCCCAAAATCGTTCAATTAC	0.378000													24	170					0	0	0.750413	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018004	101018004	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:101018004T>C	ENST00000537247.1	+	10	2063	c.1109T>C	c.(1108-1110)tTg>tCg	p.L370S	GAS2L3_ENST00000539410.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000266754.5_Missense_Mutation_p.L474S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	474					cell cycle arrest			p.L474S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAGTATTTGAAACATAAT	0.403000													10	74					0	0	0.361761	0	0
MIR508	574513	broad.mit.edu	37	X	146318520	146318520	+	RNA	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:146318520A>G	ENST00000384857.1	-	0	25					NR_030235.1																						CCTCTGGAGTAGGGCACTACA	0.433000													27	37					0	0	0.760397	0	0
EGFR	1956	broad.mit.edu	37	7	55259501	55259501	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55259501C>T	ENST00000275493.2	+	21	2736	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.I800I|EGFR_ENST00000455089.1_Silent_p.I808I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	853	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I853I(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGTCAAGATCACAGATTTTG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			77	382					0	0	0.870114	0	0
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:286583G>C	ENST00000432829.2	+	3	391	c.75G>C	c.(73-75)gtG>gtC	p.V25V	DOCK8_ENST00000453981.1_Silent_p.V93V|DOCK8_ENST00000469391.1_Silent_p.V25V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V93V(2)|p.V25V(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTGGACGTGGTGTTCACGC	0.493000													101	111					0	0	0.870114	0	0
EPHB2	2048	broad.mit.edu	37	1	23110886	23110886	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:23110886G>T	ENST00000400191.3	+	3	146	c.126_splice	c.e3-1	p.W43_splice	EPHB2_ENST00000374630.3_Splice_Site_p.W43_splice|EPHB2_ENST00000374632.3_Splice_Site_p.W43_splice|EPHB2_ENST00000374627.1_Splice_Site_p.W37_splice|EPHB2_ENST00000544305.1_Splice_Site_p.W43_splice	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	43					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.W43L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TACCCACAGTGGGAAGAGGTG	0.547000													14	82					1.02788e-11	1.15821e-11	0.520397	1	0
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	G	T	rs145685246		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:51363276G>T	ENST00000522124.1	+	8	1011	c.350G>T	c.(349-351)aGa>aTa	p.R117I	SNTG1_ENST00000276467.5_Missense_Mutation_p.R117I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R117I|SNTG1_ENST00000517473.1_Missense_Mutation_p.R117I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R117I(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGAAAATGTAGACATGAAGAA	0.323000													11	51					0.00136819	0.00140091	0.411799	1	0
HK1	3098	broad.mit.edu	37	10	71048521	71048521	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:71048521G>A	ENST00000448642.2	+	4	411	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	HK1_ENST00000360289.2_5'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.E8K			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E8K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCCAGCGAGAATCGGTAAG	0.512000													12	88					0	0	0.435327	0	0
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:135288688G>C	ENST00000543669.1	+	2	808	c.97G>C	c.(97-99)Gac>Cac	p.D33H	FHL1_ENST00000394155.2_Missense_Mutation_p.D33H|FHL1_ENST00000370690.3_Missense_Mutation_p.D33H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Missense_Mutation_p.D33H|FHL1_ENST00000345434.3_Missense_Mutation_p.D33H|FHL1_ENST00000539015.1_Missense_Mutation_p.D62H|FHL1_ENST00000370676.3_Missense_Mutation_p.D49H|FHL1_ENST00000394153.2_Missense_Mutation_p.D33H|FHL1_ENST00000370683.1_Missense_Mutation_p.D49H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	33					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.D33H(4)|p.D62H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GAAATGCTTTGACAAGTTCTG	0.557000													121	496					0	0	0.870114	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762245	23762245	+	Translation_Start_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:23762245C>A	ENST00000397312.2	-	0	262				ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame|ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAGCAATTACCTGCTAAAAAC	0.393000													143	218					1.56929e-64	2.13007e-64	0.870114	1	0
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:3786361T>A	ENST00000381771.2	-	6	770	c.623A>T	c.(622-624)cAc>cTc	p.H208L	CAMKK1_ENST00000381769.2_Missense_Mutation_p.H235L|CAMKK1_ENST00000348335.2_Missense_Mutation_p.H208L|CAMKK1_ENST00000158166.5_Missense_Mutation_p.H208L			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	208	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.H208L(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CACATTCACGTGGTCCAGCTT	0.642000													10	12					0	0	0.387290	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:32217561G>A	ENST00000400246.1	+	23	2086	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q	DEPDC5_ENST00000382112.3_Silent_p.Q648Q|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Silent_p.Q648Q|DEPDC5_ENST00000266091.3_Silent_p.Q648Q|DEPDC5_ENST00000400248.1_Silent_p.Q648Q|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Silent_p.Q648Q			O75140	DEPD5_HUMAN	DEP domain containing 5	648					intracellular signal transduction			p.Q648Q(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAGCGGGCAGAGGGATCCAA	0.552000													152	351					0	0	0.870114	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927146	31927146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:31927146T>A	ENST00000375394.2	+	2	208	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	SKIV2L_ENST00000544581.1_5'UTR|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	32						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L32Q(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGGGAGCTGCTGAACTTG	0.587000													41	41					0	0	0.870114	0	0
PATZ1	23598	broad.mit.edu	37	22	31722972	31722972	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:31722972C>G	ENST00000266269.5	-	5	2598	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.E611Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	657					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E657Q(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAAAGGACTCGAGGAGAGAC	0.582000													7	71					0	0	0.307466	0	0
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152083697C>G	ENST00000368804.1	-	2	1995	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E666Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGAGCCTCTCTTCCTCCTCC	0.652000													18	39					0	0	0.760397	0	0
RAD54L2	23132	broad.mit.edu	37	3	51663464	51663464	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:51663464T>C	ENST00000409535.1	+	4	581	c.456T>C	c.(454-456)ccT>ccC	p.P152P	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	152						nucleus	ATP binding|DNA binding|helicase activity	p.P152P(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCTATTCCTACTGTTCCGC	0.527000													4	36					0	0	0.217242	0	0
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:11133706A>G	ENST00000409790.1	+	14	1863	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R527G	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	545								p.R545G(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACTCATCAGGATCATGAA	0.577000													10	41					0	0	0.361761	0	0
LVRN	206338	broad.mit.edu	37	5	115298888	115298888	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:115298888C>A	ENST00000357872.4	+	1	698	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		192					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.L192I(2)									GGTGCTGGAGCTCAGTGAGCC	0.632000													10	52					3.07112e-06	3.2336e-06	0.387290	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54708348	54708348	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:54708348C>T	ENST00000355221.3	-	8	1234	c.675G>A	c.(673-675)atG>atA	p.M225I	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.M203I	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.M225I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGAAAAAATCATTTGATACT	0.378000													27	110					0	0	0.779181	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250893	79250893	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:79250893C>T	ENST00000374759.3	-	7	1050	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.V223M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	223					amino acid transport|sodium ion transport	integral to membrane		p.V223M(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATGGTTTTCACTGACGGCTCA	0.572000													5	26					0	0	0.248553	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855043	79855043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79855043C>T	ENST00000338682.3	-	5	1468	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	266						cytoplasm|nucleus		p.E266K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGAGCTCCTCTTGCAATGAA	0.517000													7	37					0	0	0.307466	0	0
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:27420806G>A	ENST00000211936.6	-	6	816	c.532C>T	c.(532-534)Cct>Tct	p.P178S	ZNF184_ENST00000377419.1_Missense_Mutation_p.P178S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P178S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTATTTACAGGGCCTTTTTCC	0.403000													171	173					0	0	0.870114	0	0
ATP4A	495	broad.mit.edu	37	19	36053418	36053418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:36053418G>T	ENST00000262623.3	-	4	367	c.339C>A	c.(337-339)tgC>tgA	p.C113*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	113					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C113*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACATGAGGCACTGCAGGC	0.662000													27	55					5.8336e-16	6.75646e-16	0.779181	1	0
MED12L	116931	broad.mit.edu	37	3	150906262	150906262	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:150906262C>T	ENST00000474524.1	+	12	1786	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	MED12L_ENST00000422248.2_Missense_Mutation_p.S583F|MED12L_ENST00000273432.4_Missense_Mutation_p.S443F|MED12L_ENST00000309237.4_Missense_Mutation_p.S583F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	583					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S583F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCCCCTCTTTGTGTAAG	0.333000													16	286					0	0	0.624587	0	0
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:89035252C>G	ENST00000283646.4	+	6	649	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.F198L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCGCTGATTTCAGGTACAGTT	0.517000													252	388					0	0	0.870114	0	0
OR4K14	122740	broad.mit.edu	37	14	20482537	20482537	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:20482537C>A	ENST00000305045.2	-	1	815	c.816G>T	c.(814-816)ctG>ctT	p.L272L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L272L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAACACAGACAGCAGCTTGT	0.438000													24	80					1.66031e-10	1.84871e-10	0.667858	1	0
CD22	933	broad.mit.edu	37	19	35823739	35823739	+	Silent	SNP	G	G	T	rs145824675		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:35823739G>T	ENST00000085219.5	+	3	390	c.324G>T	c.(322-324)ccG>ccT	p.P108P	CD22_ENST00000341773.6_Silent_p.P108P|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000594250.1_Silent_p.P108P|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000544992.2_Silent_p.P108P|CD22_ENST00000536635.2_Silent_p.P108P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	108	Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.P108P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTATCCACCCGGTGCACCTCA	0.498000													15	125					4.7546e-09	5.19185e-09	0.500413	1	0
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:27720714C>T	ENST00000374024.3	+	2	511	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		p.L138L(2)		endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTACCTTTCTCTGTACAATGC	0.592000													16	47					0	0	0.592651	0	0
SLC7A6	9057	broad.mit.edu	37	16	68309111	68309111	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:68309111C>A	ENST00000566454.1	+	4	751	c.482C>A	c.(481-483)cCc>cAc	p.P161H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P161H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	161					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	p.P161H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCTGTGATCCCCCATACCTG	0.572000													12	68					1.5842e-08	1.72589e-08	0.435327	1	0
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:994187C>T	ENST00000537687.1	+	19	5640	c.4997C>T	c.(4996-4998)tCa>tTa	p.S1666L	WNK1_ENST00000340908.4_Missense_Mutation_p.S999L|WNK1_ENST00000315939.6_Missense_Mutation_p.S1406L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1904L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1159L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S1406L(2)|p.S1666L(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCTGAATCACCAGTACTT	0.498000													76	191					0	0	0.870114	0	0
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493000													247	420					0	0	0.870114	0	0
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:31324729G>T	ENST00000580599.1	+	6	783		c.e6-1		SPACA3_ENST00000269053.3_Splice_Site|SPACA3_ENST00000394637.2_Splice_Site|SPACA3_ENST00000394638.1_Splice_Site			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCCATCCTCAGGGAGGCCTGG	0.532000													161	311					2.52544e-87	3.49848e-87	0.870114	1	0
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58275103G>T	ENST00000360374.2	-	1	475	c.476C>A	c.(475-477)gCa>gAa	p.A159E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGGTGCCTGCTGCATGGAT	0.507000													60	421					6.75472e-32	8.53705e-32	0.870114	1	0
CPSF2	53981	broad.mit.edu	37	14	92609541	92609541	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:92609541A>T	ENST00000298875.4	+	9	1328	c.1043A>T	c.(1042-1044)gAc>gTc	p.D348V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	348					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.D348V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTGTCAGGACCCTAAAAAC	0.423000													20	77					0	0	0.592651	0	0
OR6P1	128366	broad.mit.edu	37	1	158532818	158532818	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:158532818C>G	ENST00000334632.1	-	1	576	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E193Q(1)		central_nervous_system(1)|endometrium(4)|lung(1)	6						TCTGCTTGCTCCTTGTCAGAG	0.458000													4	4					0	0	0.217242	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													82	317					0	0	0.870114	0	0
LMOD2	442721	broad.mit.edu	37	7	123296081	123296081	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:123296081C>G	ENST00000458573.2	+	1	221	c.64C>G	c.(64-66)Ctc>Gtc	p.L22V	LMOD2_ENST00000456238.2_Missense_Mutation_p.L22V	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	22	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding	p.L22V(1)									GGATGAACTCCTCGCCTCCCT	0.537000													12	53					0	0	0.457914	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:121417151T>C	ENST00000393667.3	-	13	2329	c.2219A>G	c.(2218-2220)aAc>aGc	p.N740S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N735S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	735					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.N735S(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCACTGCTGTTGTTGTCAGC	0.388000													21	96					0	0	0.667858	0	0
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179641721C>A	ENST00000589042.1	-	28	5094	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y	TTN_ENST00000460472.2_Missense_Mutation_p.D1578Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1624Y|TTN_ENST00000591111.1_Missense_Mutation_p.D1624Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D1578Y|TTN_ENST00000342175.6_Missense_Mutation_p.D1578Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1624Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1358	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D1578Y(6)|p.D1624Y(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCAGAATCTTGGCTGACA	0.423000													56	74					9.4991e-31	1.19309e-30	0.870114	1	0
EPHA3	2042	broad.mit.edu	37	3	89528582	89528582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:89528582C>G	ENST00000336596.2	+	17	3107	c.2882C>G	c.(2881-2883)cCa>cGa	p.P961R	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	961	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.P961R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGTTGGGCCACAGAAGAAG	0.428000										TSP Lung(6;0.00050)			29	79					0	0	0.796494	0	0
DCDC1	341019	broad.mit.edu	37	11	30921898	30921898	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:30921898G>T	ENST00000597505.1	-	31	4648	c.4649C>A	c.(4648-4650)cCa>cAa	p.P1550Q	DCDC1_ENST00000406071.2_Missense_Mutation_p.P288Q|DCDC1_ENST00000339794.5_Missense_Mutation_p.P629Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.P629Q(1)|p.P240Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTACCATTTGGAGGTAGAAA	0.358000													14	16					2.32078e-09	2.55196e-09	0.479597	1	0
ESRRB	2103	broad.mit.edu	37	14	76966335	76966335	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76966335C>A	ENST00000380887.2	+	8	1498	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.R476S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R476S(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCAATCCACGCCCTTCTAG	0.537000													13	7					0.0135373	0.0137021	0.411799	1	0
TTYH2	94015	broad.mit.edu	37	17	72233616	72233616	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72233616A>T	ENST00000269346.4	+	4	672	c.598A>T	c.(598-600)Aag>Tag	p.K200*	TTYH2_ENST00000529107.1_Nonsense_Mutation_p.K179*	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	200						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.K200*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGCTGACCAAGCTATCCGA	0.572000													10	55					0	0	0.335167	0	0
ZNF860	344787	broad.mit.edu	37	3	32032068	32032068	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:32032068T>A	ENST00000360311.4	+	2	2046	c.1497T>A	c.(1495-1497)atT>atA	p.I499I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I499I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.393000													12	189					0	0	0.539581	0	0
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:45822468C>A	ENST00000177694.1	+	6	1555	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	448					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCTGGTTCCGCCCTATGC	0.677000													13	13					4.3838e-07	4.67143e-07	0.435327	1	0
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:153796519T>G	ENST00000297107.6	+	12	1936	c.1799T>G	c.(1798-1800)tTc>tGc	p.F600C	GALNT10_ENST00000377661.2_Missense_Mutation_p.F538C|GALNT10_ENST00000377657.3_Missense_Mutation_p.F273C|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	600						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F600C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTGGAAAAATTCAATAGGAAC	0.542000													64	149					0	0	0.870114	0	0
TBC1D31	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:124113096A>C	ENST00000287380.1	+	7	971	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q189P|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q294P|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q294P|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q189P	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.Q294P(2)									ATCAATATGCAGACTTGTAAA	0.353000													50	133					0	0	0.870114	0	0
RNF213	57674	broad.mit.edu	37	17	78357570	78357570	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:78357570C>T	ENST00000582970.1	+	59	14307	c.14164C>T	c.(14164-14166)Cca>Tca	p.P4722S	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P4771S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.P2795S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.P4771S(1)|p.P2795S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATATGGTGACCCAGTGACCTT	0.468000													15	132					0	0	0.479597	0	0
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:46094344C>A	ENST00000323040.4	-	2	1725	c.781G>T	c.(781-783)Gag>Tag	p.E261*	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637000													7	7					2.80697e-09	3.08178e-09	0.387290	1	0
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:65849892C>T	ENST00000395325.3	+	6	669	c.512C>T	c.(511-513)tCa>tTa	p.S171L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.S228L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S158L|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.S171L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGGGCGGCATCATCAATTCTG	0.403000													59	239					0	0	0.870114	0	0
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:136872465C>G	ENST00000409817.1	-	1	1348	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.E345Q	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	345					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.E349Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTGAAGACTCAGACTCAGTG	0.403000													15	36					0	0	0.539581	0	0
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:108576016C>A	ENST00000265174.4	-	8	1208	c.936G>T	c.(934-936)gcG>gcT	p.A312A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.A312A(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTTCATGAGTCGCAGTCAGAA	0.458000													55	95					4.6707e-30	5.85599e-30	0.870114	1	0
BLOC1S2	282991	broad.mit.edu	37	10	102039910	102039910	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:102039910T>C	ENST00000441611.1	-	3	456	c.239A>G	c.(238-240)tAc>tGc	p.Y80C	BLOC1S2_ENST00000370372.2_Missense_Mutation_p.Y123C			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	p.Y123C(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		ATCCAACTTGTAAGCTGCCTG	0.368000													33	166					0	0	0.804634	0	0
DEFB113	245927	broad.mit.edu	37	6	49936492	49936492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:49936492C>T	ENST00000398718.1	-	2	146	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	49					defense response to bacterium	extracellular region		p.W49*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ATACATATTCCCAGCTGTTGC	0.388000													3	39					0	0	0.184627	0	0
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:47684541G>T	ENST00000283303.2	+	7	2190		c.e7-1		GPR115_ENST00000371220.1_Splice_Site|GPR115_ENST00000327753.3_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTTGCCACAGGGTTTTTTCA	0.393000													33	18					9.73076e-26	1.19457e-25	0.827153	1	0
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:113323366G>C	ENST00000297405.5	-	50	7970	c.7726C>G	c.(7726-7728)Cct>Gct	p.P2576A	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2472A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2506A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2536A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2576	Sushi 14.					integral to membrane|plasma membrane		p.P2536A(2)|p.P2576A(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATGAGGTGGGGATTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	163					0	0	0.779181	0	0
ETS2	2114	broad.mit.edu	37	21	40194759	40194759	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:40194759C>T	ENST00000360214.3	+	11	1816	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	ETS2_ENST00000360938.3_Silent_p.F452F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	452					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.F452F(4)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCTGGGGTTCACGCCCGAGG	0.632000													15	31					0	0	0.479597	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:31850252C>T	ENST00000397525.1	-	10	1613	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E143K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E301K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	464						nucleus	protein binding|protein transporter activity	p.E464K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGTCTCTTCTAGGTGT	0.483000													31	325					0	0	0.769981	0	0
ASPM	259266	broad.mit.edu	37	1	197069646	197069646	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:197069646C>G	ENST00000367409.4	-	18	8991	c.8735G>C	c.(8734-8736)aGt>aCt	p.S2912T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2912	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding	p.S2912T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATGATAACACTGCTTCTGAT	0.299000													10	61					0	0	0.361761	0	0
ABCC4	10257	broad.mit.edu	37	13	95862948	95862948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:95862948G>A	ENST00000376887.4	-	5	733	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q207*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q132*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q207*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	207	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Q207*(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGCTTACCTGATCAAACTTG	0.458000													24	297					0	0	0.681144	0	0
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:21860668C>G	ENST00000399982.2	-	33	6833	c.6769G>C	c.(6769-6771)Gat>Cat	p.D2257H	CHD8_ENST00000557364.1_Missense_Mutation_p.D2257H|CHD8_ENST00000430710.3_Missense_Mutation_p.D1978H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.D2257H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCTTACATCTTTGATTTGA	0.463000													105	313					0	0	0.870114	0	0
BSN	8927	broad.mit.edu	37	3	49690545	49690545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:49690545G>T	ENST00000296452.4	+	5	3670	c.3556G>T	c.(3556-3558)Gag>Tag	p.E1186*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1186					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E1186*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCGCTGAGGAGGCTTATGA	0.652000													4	9					0.00909568	0.00921304	0.150653	1	0
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15760843C>T	ENST00000378076.3	-	2	618	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	89					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E89K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCCCCCTTCCACGATATCG	0.567000													4	20					0	0	0.248553	0	0
NOX4	50507	broad.mit.edu	37	11	89184980	89184980	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:89184980G>A	ENST00000535633.1	-	3	475	c.165C>T	c.(163-165)ctC>ctT	p.L55L	NOX4_ENST00000424319.1_Silent_p.L55L|NOX4_ENST00000343727.5_Silent_p.L55L|NOX4_ENST00000534731.1_Silent_p.L79L|NOX4_ENST00000528341.1_Silent_p.L54L|NOX4_ENST00000532825.1_Silent_p.L55L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.L55L|NOX4_ENST00000527956.1_Silent_p.L55L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000263317.4_Silent_p.L79L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Silent_p.L79L|NOX4_ENST00000413594.2_Silent_p.L100L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	79					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAGCCAAGAGTGTTCGGC	0.413000													79	445					0	0	0.870114	0	0
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:98509822G>A	ENST00000359863.4	+	18	2394	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E728K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E729K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E729K(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAAAATGAACAAATGCT	0.483000													33	46					0	0	0.812448	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670723	55670723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55670723C>A	ENST00000527223.2	-	12	1535	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A445S|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A391S|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G106V|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A492S	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	445								p.A492S(1)									GAAGGCCTGGCCCCGGTCTGT	0.617000													6	21					0.00307968	0.00313741	0.278610	1	0
COL11A1	1301	broad.mit.edu	37	1	103440440	103440440	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:103440440C>A	ENST00000358392.2	-	36	3108		c.e36-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTGAGGACCCTGGAAATAAA	0.383000													12	42					3.07112e-06	3.2336e-06	0.387290	1	0
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	C	A	rs147705128	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:28993526C>A	ENST00000359747.4	+	15	3177	c.3148C>A	c.(3148-3150)Cga>Aga	p.R1050R	DSG4_ENST00000308128.4_Silent_p.R1031R|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1031					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R1050R(2)|p.R1031R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGTAACACGATACAGTAA	0.438000													145	249					2.60731e-47	3.45927e-47	0.870114	1	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000													72	161					0	0	0.870114	0	0
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100957082C>T	ENST00000548884.1	+	11	1775	c.1234C>T	c.(1234-1236)Ctt>Ttt	p.L412F	NR1H4_ENST00000392986.3_Missense_Mutation_p.L416F|NR1H4_ENST00000549996.1_Missense_Mutation_p.L365F|NR1H4_ENST00000188403.7_Missense_Mutation_p.L422F|NR1H4_ENST00000551379.1_Missense_Mutation_p.L426F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L412F(2)|p.L426F(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GGAGCCACTTCTTGATGTGCT	0.383000													27	104					0	0	0.750413	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:14710889C>G	ENST00000547437.1	+	12	866	c.789C>G	c.(787-789)ggC>ggG	p.G263G	CLEC17A_ENST00000397439.2_Silent_p.G246G|CLEC17A_ENST00000417570.1_Silent_p.G263G	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	p.G263G(2)									CCTTTGAGGGCAAGTGTTACT	0.532000													17	84					0	0	0.592651	0	0
CD300A	11314	broad.mit.edu	37	17	72469792	72469792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72469792C>T	ENST00000360141.3	+	2	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	53	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.P53L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCAGACCACCACAGATTTTC	0.547000													16	127					0	0	0.592651	0	0
GPR35	2859	broad.mit.edu	37	2	241569594	241569594	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:241569594C>T	ENST00000319838.5	+	6	1167	c.225C>T	c.(223-225)ttC>ttT	p.F75F	GPR35_ENST00000438013.2_Silent_p.F106F|GPR35_ENST00000430267.1_Silent_p.F75F|GPR35_ENST00000407714.1_Silent_p.F75F|GPR35_ENST00000403859.1_Silent_p.F75F	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	75						integral to plasma membrane	G-protein coupled receptor activity	p.F75F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCTTGCCCTTCGTGCTGCACT	0.627000													4	19					0	0	0.278610	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42478467C>T	ENST00000434000.1	-	9	1026	c.744G>A	c.(742-744)ggG>ggA	p.G248G	GPATCH8_ENST00000591680.1_Silent_p.G326G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326						intracellular	nucleic acid binding|zinc ion binding	p.G326G(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCAGAGGTCCCTTCCTCCG	0.448000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	271					0	0	0.870114	0	0
MYO3B	140469	broad.mit.edu	37	2	171375965	171375965	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:171375965C>T	ENST00000334231.6	+	30	3517	c.3517C>T	c.(3517-3519)Cat>Tat	p.H1173Y	MYO3B_ENST00000409044.3_Missense_Mutation_p.H1137Y|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.H1164Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1164					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.H1164Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCTCTGTACATCGTAGGAG	0.478000													19	290					0	0	0.575678	0	0
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60889133G>A	ENST00000347785.3	+	6	1022	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	286	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.E286K(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCATCTGTGAAGGCACCGT	0.647000													8	21					0	0	0.411799	0	0
SUOX	6821	broad.mit.edu	37	12	56397693	56397693	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56397693G>A	ENST00000394109.3	+	3	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.D174N|SUOX_ENST00000266971.3_Missense_Mutation_p.D174N|SUOX_ENST00000394115.2_Missense_Mutation_p.D174N|SUOX_ENST00000356124.4_Missense_Mutation_p.D174N			P51687	SUOX_HUMAN	sulfite oxidase	174	Hinge (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGAGACCTCTGACCCTTATGC	0.547000													3	26					0	0	0.150653	0	0
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:137688241C>T	ENST00000371817.3	+	35	3235	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P941S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGACGGCCCAGCTGGCCC	0.577000													13	8					0	0	0.539581	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:24911677T>A	ENST00000313367.2	-	3	559	c.108A>T	c.(106-108)gaA>gaT	p.E36D	OSBPL3_ENST00000352860.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E36D|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E36D	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	36					lipid transport		lipid binding|protein binding	p.E36D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCACCACTTCCCAGCTGT	0.413000													41	79					0	0	0.870114	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683366	140683366	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140683366A>T	ENST00000239451.4	-	1	246	c.67T>A	c.(67-69)Tgt>Agt	p.C23S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGTACACACGCTGTCCCC	0.597000													7	73					0	0	0.387290	0	0
KIAA1549	57670	broad.mit.edu	37	7	138595905	138595905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:138595905G>C	ENST00000440172.1	-	4	3180	c.3132C>G	c.(3130-3132)ttC>ttG	p.F1044L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.F1044L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.F994L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1044						integral to membrane		p.F994L(1)|p.F1044L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTGAACTTGGAACCTGGACT	0.343000			O	BRAF	pilocytic astrocytoma								9	29					0	0	0.361761	0	0
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:15495391C>T	ENST00000383788.5	-	16	1368	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.E416K|COLQ_ENST00000383787.2_Missense_Mutation_p.E406K|COLQ_ENST00000383786.5_Missense_Mutation_p.E381K|COLQ_ENST00000435459.2_Missense_Mutation_p.E405K|COLQ_ENST00000383781.4_Missense_Mutation_p.E405K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	415					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.E405K(2)|p.E415K(2)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCACAGTCCTCCACACCCTCA	0.587000													16	45					0	0	0.575678	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273625	99273625	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:99273625A>T	ENST00000408927.3	+	4	348		c.e4-1		RAP1GDS1_ENST00000512857.1_Splice_Site|RAP1GDS1_ENST00000339360.5_Splice_Site|RAP1GDS1_ENST00000408900.3_Splice_Site|RAP1GDS1_ENST00000453712.2_Splice_Site|RAP1GDS1_ENST00000380158.4_Splice_Site|RAP1GDS1_ENST00000264572.7_Splice_Site	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1								binding|GTPase activator activity	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTATTTTCAGAGTTTATGC	0.358000			T	NUP98	T-ALL								41	71					0	0	0.870114	0	0
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150437062A>G	ENST00000401000.4	+	9	1458	c.1393A>G	c.(1393-1395)Agt>Ggt	p.S465G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.S465G|RPRD2_ENST00000369068.4_Missense_Mutation_p.S491G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	491	Ser-rich.						protein binding	p.S491G(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCTCACCAGTGGCCTGAA	0.527000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	14					0	0	0.479597	0	0
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:39161449G>T	ENST00000301819.6	+	8	1039	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E239*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E288*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	288							binding	p.E288*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAGGCACTAGAGACAAGGGA	0.448000													10	77					3.7963e-18	4.49261e-18	0.654019	1	0
CFDP1	10428	broad.mit.edu	37	16	75429091	75429091	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:75429091C>G	ENST00000283882.3	-	5	679	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	183	Hydrophilic.				multicellular organismal development			p.D183H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						GATGTAGCATCCACTTCCTTA	0.418000													23	63					0	0	0.706142	0	0
ATG2B	55102	broad.mit.edu	37	14	96809570	96809570	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96809570C>A	ENST00000359933.4	-	5	1523	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	210								p.V210V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGTTGATGCACATTAATTC	0.433000													36	144					4.17593e-13	4.76239e-13	0.834066	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:33527444G>A	ENST00000504830.1	-	24	4969	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1460L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1545	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1545L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACTGGCTGACAGTTTGTC	0.438000										HNSCC(64;0.19)			16	61					0	0	0.500413	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:57218183A>C	ENST00000396721.2	-	5	807	c.677T>G	c.(676-678)tTg>tGg	p.L226W	SDR16C5_ENST00000303749.3_Missense_Mutation_p.L270W|SDR16C5_ENST00000522671.1_Missense_Mutation_p.L270W			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	270					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L270W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAAGTATAACAACTTTGGCAT	0.358000													27	87					0	0	0.717897	0	0
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:103487276G>C	ENST00000358392.2	-	9	1648	c.1331C>G	c.(1330-1332)gCa>gGa	p.A444G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A316G|COL11A1_ENST00000370096.3_Missense_Mutation_p.A432G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A393G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A432G(2)|p.A444G(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCAACCACTGCTGGTTCTCC	0.358000													21	114					0	0	0.693898	0	0
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:160510217G>T	ENST00000356956.1	+	43	6547	c.6399G>T	c.(6397-6399)caG>caT	p.Q2133H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2133					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.Q2133H(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGAGGTGCAGATGGTGAATG	0.502000													44	54					9.57592e-29	1.19214e-28	0.870114	1	0
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:118579310G>A	ENST00000263239.2	+	5	863	c.735G>A	c.(733-735)agG>agA	p.R245R	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R245R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAGTTAAGGTTCATGCCCA	0.423000													29	215					0	0	0.760397	0	0
FPR2	2358	broad.mit.edu	37	19	52272902	52272902	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52272902C>A	ENST00000598776.1	+	2	1763	c.991C>A	c.(991-993)Cca>Aca	p.P331T	FPR2_ENST00000340023.6_Missense_Mutation_p.P331T|FPR2_ENST00000598953.1_Missense_Mutation_p.P331T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACTCAGCCCCAACTAATGA	0.537000													49	237					6.3091e-27	7.78582e-27	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179396241C>T	ENST00000589042.1	-	358	105325	c.105101G>A	c.(105100-105102)gGg>gAg	p.G35034E	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25969E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32466E|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33393E|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26094E|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26161E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33393							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26094E(2)|p.G32464E(2)|p.G32466E(2)|p.G25969E(2)|p.G26161E(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAATCCCCTCCTGTCAC	0.493000													160	132					0	0	0.870114	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:160259585C>T	ENST00000264431.4	+	12	2194	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.S580L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTATTGCAGTCACATCATCGC	0.383000													123	391					0	0	0.870114	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:11082809G>T	ENST00000304623.8	-	16	2976	c.2788_splice	c.e16+1	p.I929_splice	CTNND2_ENST00000359640.2_Splice_Site_p.I871_splice|CTNND2_ENST00000458100.2_Splice_Site_p.I496_splice|CTNND2_ENST00000503622.1_Splice_Site_p.I592_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.I838_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000													74	341					8.2577e-42	1.08541e-41	0.870114	1	0
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:11297963C>A	ENST00000361445.4	-	13	2221	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	715					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.V715V(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGAGTCGGCCCACAGTGCAGA	0.577000													60	50					2.40041e-21	2.88908e-21	0.870114	1	0
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:42530068G>C	ENST00000282030.5	+	4	1059	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	255						nucleus	DNA binding	p.E255Q(2)|p.E201Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCGCTCTTGAGCCCGTGGC	0.537000									Schinzel-Giedion syndrome				79	188					0	0	0.870114	0	0
ADAM29	11086	broad.mit.edu	37	4	175898412	175898412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:175898412T>G	ENST00000359240.3	+	5	2406	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	ADAM29_ENST00000404450.4_Missense_Mutation_p.I579R|ADAM29_ENST00000514159.1_Missense_Mutation_p.I579R|ADAM29_ENST00000445694.1_Missense_Mutation_p.I579R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	579	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I579R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCAATGACATAATGTGCTGG	0.423000													33	736					0	0	0.819951	0	0
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:60688050G>C	ENST00000335712.6	-	4	2224	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	BCL11A_ENST00000358510.4_Missense_Mutation_p.S632C|BCL11A_ENST00000537768.1_Missense_Mutation_p.S335C|BCL11A_ENST00000538214.1_Missense_Mutation_p.S632C|BCL11A_ENST00000356842.4_Missense_Mutation_p.S666C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	666					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S666C(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGCCTGGAGGCCGCGTA	0.612000			T	IGH@	B-CLL								21	11					0	0	0.608945	0	0
DLGAP5	9787	broad.mit.edu	37	14	55621377	55621377	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:55621377T>G	ENST00000247191.2	-	15	2237	c.2021A>C	c.(2020-2022)gAa>gCa	p.E674A	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E674A	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	674					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.E674A(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTCACATGTTCACTTTTCGT	0.358000													8	145					0	0	0.387290	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593530	45593530	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:45593530C>T	ENST00000270257.4	+	3	405	c.158C>T	c.(157-159)tCc>tTc	p.S53F	CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.S53F|GEMIN7_ENST00000591607.1_Missense_Mutation_p.S53F|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.S53F	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	53					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	p.S53F(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TCCCTGGAATCCCAGGAGCAG	0.627000													3	12					0	0	0.150653	0	0
CTNND1	1500	broad.mit.edu	37	11	57572182	57572182	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:57572182G>A	ENST00000524630.1	+	9	2165	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	CTNND1_ENST00000532463.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.C551Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.C551Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	551					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.C551Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGGGAATGTGATGGTTTA	0.463000													18	112					0	0	0.592651	0	0
KMT2A	4297	broad.mit.edu	37	11	118362018	118362018	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:118362018C>A	ENST00000534358.1	+	14	4827	c.4804C>A	c.(4804-4806)Ctt>Att	p.L1602I	KMT2A_ENST00000389506.5_Missense_Mutation_p.L1602I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L1564I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.L1602I(2)									ATGTGAGAATCTTTCAGGTAC	0.373000													58	264					4.09171e-25	4.99705e-25	0.870114	1	0
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142460350T>C	ENST00000486171.1	+	5	582	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Y175H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	175	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Y175H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGAAGCCTCCTACCCTGGAAA	0.532000													145	388					0	0	0.870114	0	0
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:129903116T>A	ENST00000368654.3	-	13	7363	c.6988A>T	c.(6988-6990)Aag>Tag	p.K2330*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1970*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K2330*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGTGGGCTTGTCAGTGCCT	0.522000													183	349					0	0	0.870114	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52147285C>A	ENST00000360844.6	-	5	800	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	253	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.L246L(2)|p.L253L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGGATCCGCAGGGCTGGGA	0.592000													17	16					5.35267e-07	5.69527e-07	0.557998	1	0
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:22369243C>A	ENST00000332663.2	+	1	766	c.668C>A	c.(667-669)gCc>gAc	p.A223D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTTCTGGCCTTGTTCAAG	0.478000													147	937					3.35719e-51	4.49641e-51	0.870114	1	0
DDI1	414301	broad.mit.edu	37	11	103908684	103908684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:103908684G>T	ENST00000302259.3	+	1	1377	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	378					proteolysis		aspartic-type endopeptidase activity	p.E378D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCAAGATGAGTCTTCGGACA	0.458000													8	53					3.03607e-14	3.48212e-14	0.411799	1	0
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:187088747T>C	ENST00000259030.2	+	2	437	c.327T>C	c.(325-327)gaT>gaC	p.D109D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	109					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.D109D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCTCGGATAGCACCATGA	0.507000													19	106					0	0	0.639603	0	0
RYR1	6261	broad.mit.edu	37	19	38934893	38934893	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:38934893C>G	ENST00000355481.4	+	6	660	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	RYR1_ENST00000360985.3_Missense_Mutation_p.R177G|RYR1_ENST00000359596.3_Missense_Mutation_p.R177G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	177	MIR 2.		R -> C (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R177G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTCCGAGCGCTACCTGGT	0.602000													5	36					0	0	0.184627	0	0
SDK2	54549	broad.mit.edu	37	17	71427710	71427710	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:71427710C>A	ENST00000392650.3	-	11	1411	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	SDK2_ENST00000388726.3_Missense_Mutation_p.G471W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	471	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGTAGGTCCCCGCATCGGAG	0.627000													24	63					2.79863e-10	3.10886e-10	0.681144	1	0
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:9784051T>A	ENST00000304374.2	+	1	794	c.398T>A	c.(397-399)gTc>gAc	p.V133D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V133D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACCTGTGCGTCATCAGCGTG	0.627000													14	13					0	0	0.500413	0	0
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149749093G>A	ENST00000451292.1	+	6	675	c.565_splice	c.e6-1	p.G189_splice	TCOF1_ENST00000377797.3_Splice_Site_p.G189_splice|TCOF1_ENST00000439160.2_Splice_Site_p.G189_splice|TCOF1_ENST00000394269.3_Splice_Site_p.G189_splice|TCOF1_ENST00000504761.2_Splice_Site_p.G189_splice|TCOF1_ENST00000323668.7_Splice_Site_p.G189_splice|TCOF1_ENST00000445265.2_Splice_Site_p.G189_splice|TCOF1_ENST00000513346.1_Splice_Site_p.G189_splice			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development	nucleolus	protein binding|transporter activity	p.G189G(4)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCTCAGGGATGGTGTCAG	0.627000													5	31					0	0	0.217242	0	0
ITGA3	3675	broad.mit.edu	37	17	48156475	48156475	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:48156475G>A	ENST00000320031.8	+	20	2766	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	ITGA3_ENST00000007722.7_Silent_p.G812G	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	812					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.G812G(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGGCCTGGGGACCCTGGTCC	0.597000													8	27					0	0	0.361761	0	0
ACTR8	93973	broad.mit.edu	37	3	53908248	53908248	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:53908248T>C	ENST00000335754.3	-	8	1155	c.1055A>G	c.(1054-1056)cAt>cGt	p.H352R	ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Missense_Mutation_p.H241R	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.H352R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGATCTAAATGACAAAAAGT	0.343000													8	14					0	0	0.335167	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:121638051G>T	ENST00000393386.2	+	10	1642	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	411					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D411Y(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATGCCTACTGATAATCCTGG	0.348000													40	46					1.70205e-38	2.2044e-38	0.870114	1	0
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62655685G>C	ENST00000377892.1	+	12	1842	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	SLC3A2_ENST00000338663.7_Missense_Mutation_p.V408L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V510L|SLC3A2_ENST00000536981.1_Missense_Mutation_p.V54L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V478L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V447L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V509L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	509					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.V540L(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAACATGACTGTGAAGGTAAG	0.537000													34	70					0	0	0.769981	0	0
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160209914G>C	ENST00000368073.3	-	4	730	c.296C>G	c.(295-297)tCa>tGa	p.S99*	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.S253*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.S99*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99						CUL4 RING ubiquitin ligase complex	protein binding	p.S99*(2)|p.S253*(2)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctcttcctctGAGCGGTCATG	0.527000													62	61					0	0	0.870114	0	0
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:110048969C>G	ENST00000309415.6	+	6	1416	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3.						zinc ion binding	p.L472L(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACCTGGCGCTCTACGCCTACA	0.632000													8	14					0	0	0.361761	0	0
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:104114738C>T	ENST00000361355.4	+	4	791	c.175C>T	c.(175-177)Cca>Tca	p.P59S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	59					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.P59S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAGGTCTCTCCACCAAATGA	0.318000													31	136					0	0	0.804634	0	0
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248343411A>T	ENST00000359682.2	+	1	124	c.124A>T	c.(124-126)Aac>Tac	p.N42Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATGGGAAACTCTGTCAT	0.522000													500	630					0	0	0.870114	0	0
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:56382250G>A	ENST00000301295.6	+	7	2834	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	NLRP4_ENST00000346986.5_Silent_p.L748L|NLRP4_ENST00000587891.1_Silent_p.L729L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804							ATP binding	p.L804L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATGCTTCTGCGTAACAAGA	0.527000													69	147					0	0	0.870114	0	0
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	C	A	rs148078245	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:86902971C>A	ENST00000376238.4	-	12	1321	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M355I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	424					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.M424I(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCCACTTTCCATTTTCATGG	0.458000													140	181					3.75818e-72	5.14066e-72	0.870114	1	0
CAPN9	10753	broad.mit.edu	37	1	230910379	230910379	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:230910379T>A	ENST00000271971.2	+	8	1066		c.e8+2		CAPN9_ENST00000354537.1_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Splice_Site	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAATTCTGGTACCGTGCTTG	0.507000													27	200					0	0	0.740014	0	0
KLHL4	56062	broad.mit.edu	37	X	86921526	86921526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:86921526C>A	ENST00000373119.4	+	11	2294	c.2149C>A	c.(2149-2151)Cta>Ata	p.L717I	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	717						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.L717I(2)		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						AGTGGTGAAGCTACCCTAAAG	0.358000													39	78					1.35964e-18	1.61443e-18	0.870114	1	0
TRAV35	28647	broad.mit.edu	37	14	22689801	22689801	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22689801G>T	ENST00000390462.1	+	0	10																											GATGCTCCTTGAACATTTATT	0.358000													4	6					0.00116845	0.00119725	0.217242	1	0
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:95756262C>A	ENST00000272418.2	-	11	1145	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.G313C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCGGAGGCCGTAACCTAGA	0.572000													55	149					2.41709e-19	2.88458e-19	0.870114	1	0
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Translation_Start_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:70806253G>A	ENST00000380675.2	+	0	3597				BDP1_ENST00000358731.4_Missense_Mutation_p.G1112S			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.G1112S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGCCTCTAGGTGAAATGCA	0.433000													14	62					0	0	0.500413	0	0
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:43621828C>G	ENST00000398457.2	+	2	303	c.43C>G	c.(43-45)Cct>Gct	p.P15A	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.P15A(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	aaagccctgccctcaGGTGTG	0.552000													12	35					0	0	0.411799	0	0
PSG2	5670	broad.mit.edu	37	19	43576092	43576092	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43576092G>T	ENST00000406487.1	-	4	822	c.724C>A	c.(724-726)Ccc>Acc	p.P242T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGAATTCTGGGGAGGTCTGGA	0.498000													173	331					3.491e-97	4.85033e-97	0.870114	1	0
CRNKL1	51340	broad.mit.edu	37	20	20025969	20025969	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:20025969C>G	ENST00000377340.2	-	7	1298	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E411Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E262Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	423					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E423Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATTTTCTTCAAACTTGGCA	0.363000													31	207					0	0	0.819951	0	0
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:26094815G>T	ENST00000313735.6	-	18	2316	c.2083C>A	c.(2083-2085)Ccc>Acc	p.P695T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.P695T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TAGAGCTTGGGGATCTGAATG	0.567000													5	68					0.014758	0.0149057	0.184627	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:106084040G>A	ENST00000357242.5	+	10	1819	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D543N|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D549N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D549N(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCAGAGTGATACTGGCAT	0.473000													129	339					0	0	0.870114	0	0
CEP170	9859	broad.mit.edu	37	1	243327639	243327639	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:243327639C>A	ENST00000366542.1	-	13	3674	c.3623G>T	c.(3622-3624)cGa>cTa	p.R1208L	CEP170_ENST00000366543.1_Missense_Mutation_p.R1110L|CEP170_ENST00000366544.1_Missense_Mutation_p.R1110L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1208	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.R1208L(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTCTGAGAGTCGAGAGATACT	0.423000													30	50					2.04263e-09	2.24785e-09	0.796494	1	0
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403000													128	151					0	0	0.870114	0	0
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:12502558C>A	ENST00000419318.1	-	4	1307	c.558G>T	c.(556-558)acG>acT	p.T186T	ZNF799_ENST00000430385.3_Silent_p.T218T|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403000													103	179					4.4634e-40	5.81271e-40	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:237753224A>G	ENST00000366574.2	+	30	4047	c.3730A>G	c.(3730-3732)Aac>Gac	p.N1244D	RYR2_ENST00000542537.1_Missense_Mutation_p.N1228D|RYR2_ENST00000360064.6_Missense_Mutation_p.N1242D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1244	4 X approximate repeats.				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.N1242D(2)		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)			CGTTAATACAAACAGGGATAT	0.398000													102	135					0	0	0.870114	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31378209A>G	ENST00000297142.3	-	2	996	c.674T>C	c.(673-675)cTt>cCt	p.L225P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	225					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L225P(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAATTATCAAGAGTCCCATG	0.527000													61	181					0	0	0.870114	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779566	156779566	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156779566C>T	ENST00000392306.2	-	6	770	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E183K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E201K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	201	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E211K(1)|p.E201K(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGATTCTTCGGTCCTCAGG	0.582000													100	823					0	0	0.870114	0	0
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:3541497C>G	ENST00000262919.5	+	8	1460	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	ATRN_ENST00000446916.2_Missense_Mutation_p.I464M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	464					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.I464M(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTTTGGTCACT	0.443000													49	162					0	0	0.870114	0	0
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:117660523T>A	ENST00000317775.6	-	26	4657	c.3972A>T	c.(3970-3972)ccA>ccT	p.P1324P	NOS1_ENST00000338101.4_Silent_p.P1358P|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1324					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTTACCTTTGGTTTGTCTG	0.552000													52	224					0	0	0.870114	0	0
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:29001982C>G	ENST00000282397.4	-	9	1434	c.1183G>C	c.(1183-1185)Gta>Cta	p.V395L	FLT1_ENST00000539099.1_Missense_Mutation_p.V395L|FLT1_ENST00000541932.1_Missense_Mutation_p.V395L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	395	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.V395L(4)|p.V395I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCAGTTACGTCCTTGATA	0.388000													90	160					0	0	0.870114	0	0
AGBL4	84871	broad.mit.edu	37	1	49511413	49511413	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:49511413T>C	ENST00000371839.1	-	5	553	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	AGBL4_ENST00000371836.1_Missense_Mutation_p.Y146C|AGBL4_ENST00000371838.1_Missense_Mutation_p.Y146C	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	146					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.Y146C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GGACATCACATAGTTCTTCCT	0.398000													2	5					0	0	0.115264	0	0
MYLIP	29116	broad.mit.edu	37	6	16143378	16143378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:16143378C>T	ENST00000349606.4	+	3	553	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	MYLIP_ENST00000356840.3_Nonsense_Mutation_p.Q198*			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	198	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q198*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TAGCGAAGGGCAGAAACTGCT	0.443000													30	254					0	0	0.779181	0	0
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:49373271C>T	ENST00000293549.3	+	2	161	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	42					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.S42F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AACGTAGCCTCCTCCACGAAC	0.552000													40	86					0	0	0.870114	0	0
C7orf66	154907	broad.mit.edu	37	7	108524185	108524185	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:108524185T>C	ENST00000379007.2	-	2	281	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	76						integral to membrane		p.Q76R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCTGTATCTCTGATCCATCAT	0.403000													143	589					0	0	0.870114	0	0
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:1930451A>T	ENST00000380815.4	-	7	926	c.657T>A	c.(655-657)gtT>gtA	p.V219V	GMDS_ENST00000530927.1_Silent_p.V189V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V219V(2)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTTCGAGTAACGAAATTAG	0.433000													202	106					0	0	0.870114	0	0
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248737412A>G	ENST00000328782.2	-	1	668	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216T(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACCATGATGGGGGTGAG	0.572000													125	555					0	0	0.870114	0	0
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:66467425A>G	ENST00000273854.3	-	3	1444	c.844T>C	c.(844-846)Tgg>Cgg	p.W282R	EPHA5_ENST00000432638.2_Missense_Mutation_p.W282R|EPHA5_ENST00000354839.4_Missense_Mutation_p.W282R|EPHA5_ENST00000511294.1_Missense_Mutation_p.W282R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	282	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.W282R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCACCAGCCACTCCCCTTCG	0.532000										TSP Lung(17;0.13)			45	57					0	0	0.870114	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381247	19381247	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:19381247G>A	ENST00000389363.4	-	3	276	c.204C>T	c.(202-204)ttC>ttT	p.F68F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	68						integral to membrane		p.F68F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGAAGACAGCGAAGACTGCAG	0.592000													27	10					0	0	0.750413	0	0
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:36675196G>T	ENST00000399881.3	+	10	1061	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V342L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACATCACTGTGGACAGTGT	0.458000													140	224					4.05801e-98	5.6548e-98	0.870114	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140558439A>G	ENST00000239444.2	+	1	1069	c.824A>G	c.(823-825)aAc>aGc	p.N275S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		275	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N275S(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGAGTCAACGGAGAGATT	0.423000													20	340					0	0	0.639603	0	0
ZNF93	81931	broad.mit.edu	37	19	20045245	20045245	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:20045245C>G	ENST00000343769.5	+	4	1509	c.1481C>G	c.(1480-1482)tCt>tGt	p.S494C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	494						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S494C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCAGTCCTCTTCCCTTACT	0.368000													29	131					0	0	0.769981	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743005	5743005	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:5743005A>C	ENST00000414202.2	+	9	1229	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	KIAA1432_ENST00000418622.3_Silent_p.G267G|KIAA1432_ENST00000251879.6_Silent_p.G346G|KIAA1432_ENST00000381532.2_Silent_p.G267G|KIAA1432_ENST00000449720.2_Silent_p.G267G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	346						integral to membrane		p.G267G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CACTTGGAGGAGATTTTGCGT	0.373000													20	152					0	0	0.608945	0	0
TMF1	7110	broad.mit.edu	37	3	69096968	69096968	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:69096968G>A	ENST00000543976.1	-	2	1134	c.888C>T	c.(886-888)ctC>ctT	p.L296L	CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Silent_p.L296L	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	296					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.L296L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAGATGCAGAGAGAAGCTGAA	0.378000													43	64					0	0	0.870114	0	0
LSM5	23658	broad.mit.edu	37	7	32529942	32529942	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:32529942C>A	ENST00000450169.2	-	1	88	c.36G>T	c.(34-36)ctG>ctT	p.L12L	LSM5_ENST00000409909.3_Intron|LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000409987.1_Silent_p.L12L|LSM5_ENST00000409952.3_Intron	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.L12L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CTAAGGGCAGCAGCTGCGACG	0.617000													18	55					2.94398e-08	3.19007e-08	0.557998	1	0
OR6F1	343169	broad.mit.edu	37	1	247875710	247875710	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247875710T>A	ENST00000302084.2	-	1	395	c.348A>T	c.(346-348)gcA>gcT	p.A116A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCATGGCTGCCAGGAGGA	0.517000													27	109					0	0	0.750413	0	0
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:32017941C>A	ENST00000375244.3	-	27	9474	c.9273G>T	c.(9271-9273)ctG>ctT	p.L3091L	TNXB_ENST00000375247.2_Silent_p.L3089L			P22105	TENX_HUMAN	tenascin XB	3136					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L3156L(2)|p.L3091L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGACCAGGAAGTGGT	0.642000													21	25					3.01185e-09	3.30415e-09	0.667858	1	0
NDUFAF7	55471	broad.mit.edu	37	2	37464981	37464981	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:37464981A>G	ENST00000002125.4	+	4	419	c.379A>G	c.(379-381)Agg>Ggg	p.R127G	NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R100G	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7									p.R127G(1)									GGGCCCAGGTAGGGGAACCCT	0.423000													20	84					0	0	0.693898	0	0
GPR65	8477	broad.mit.edu	37	14	88477258	88477258	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:88477258T>C	ENST00000267549.3	+	2	625	c.67T>C	c.(67-69)Ttt>Ctt	p.F23L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	23					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.F23L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGTTTACATCTTTGTGATTAT	0.358000													31	226					0	0	0.804634	0	0
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:35804322G>C	ENST00000392213.3	+	11	2005	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.E591Q	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	616					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E616Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACGGAGGAGCTAGCTGA	0.652000													13	44					0	0	0.500413	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706012	41706012	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:41706012C>A	ENST00000379485.1	-	1	870	c.636G>T	c.(634-636)gaG>gaT	p.E212D	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E146D	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	212							protein binding	p.E212D(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGCTAGAGTCTCCTCCCGAA	0.562000													27	190					1.77063e-15	2.04738e-15	0.693898	1	0
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:7056721A>C	ENST00000310074.7	+	2	1392	c.1203A>C	c.(1201-1203)ctA>ctC	p.L401L	TADA2B_ENST00000515646.1_Silent_p.L309L|TADA2B_ENST00000512388.1_Silent_p.L326L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.L401L(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAAAGTCCTAAAGAAAAGGA	0.488000													5	23					0	0	0.184627	0	0
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184102332G>C	ENST00000204604.1	+	13	1694	c.1448G>C	c.(1447-1449)gGt>gCt	p.G483A	CHRD_ENST00000450923.1_Missense_Mutation_p.G483A|CHRD_ENST00000545352.1_Missense_Mutation_p.G113A|CHRD_ENST00000348986.3_Missense_Mutation_p.G443A|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607000													63	178					0	0	0.870114	0	0
SPEF2	79925	broad.mit.edu	37	5	35654779	35654779	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:35654779G>C	ENST00000440995.2	+	7	929	c.929G>C	c.(928-930)aGa>aCa	p.R310T	SPEF2_ENST00000509059.1_Missense_Mutation_p.R310T|SPEF2_ENST00000282469.6_Missense_Mutation_p.R310T|SPEF2_ENST00000356031.3_Missense_Mutation_p.R310T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	310					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R310T(2)		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)			AGGGAGAAAAGACGGCGGAAA	0.388000													22	108					0	0	0.717897	0	0
PLD1	5337	broad.mit.edu	37	3	171395480	171395480	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:171395480G>A	ENST00000342215.6	-	15	1659	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PLD1_ENST00000351298.4_Silent_p.T624T|PLD1_ENST00000340989.4_Silent_p.T624T|PLD1_ENST00000356327.5_Silent_p.T586T			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T624T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATGGACCCGGTATCTGTGA	0.488000													54	317					0	0	0.870114	0	0
UBC	7316	broad.mit.edu	37	12	125397990	125397990	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:125397990C>T	ENST00000536769.1	-	1	1904	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	UBC_ENST00000538617.1_Missense_Mutation_p.E110K|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.E110K			P0CG48	UBC_HUMAN	ubiquitin C	110	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E110K(1)|p.I106fs*10(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAATGCCTTCCTTGTCCTGG	0.522000													51	202					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179596652C>A	ENST00000589042.1	-	58	17174	c.16950G>T	c.(16948-16950)aaG>aaT	p.K5650N	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4406N|TTN_ENST00000591111.1_Missense_Mutation_p.K5333N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5333	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4406N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGTACTCCTTTAAGACTT	0.433000													41	233					3.09479e-21	3.71532e-21	0.827153	1	0
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:111147283C>G	ENST00000485317.1	-	3	795	c.122G>C	c.(121-123)gGg>gCg	p.G41A	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G41A|KCNA2_ENST00000369770.3_Missense_Mutation_p.G41A|KCNA2_ENST00000316361.4_Missense_Mutation_p.G41A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	41						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G41A(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAACCGCAGCCCTGAGATGTT	0.572000													20	73					0	0	0.667858	0	0
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:142143645G>T	ENST00000262990.4	+	2	348	c.120_splice	c.e2+1	p.M40_splice	ZNF330_ENST00000421169.2_Splice_Site_p.W4_splice	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.M40I(2)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATGCCTCAATGGTATCAGCTT	0.363000													30	27					4.40578e-31	5.54351e-31	0.819951	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100231420	100231420	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:100231420A>G	ENST00000231461.5	-	2	493	c.183T>C	c.(181-183)tcT>tcC	p.S61S	ST8SIA4_ENST00000451528.2_Silent_p.S61S	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	61					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.S61S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGAAGATTGAAGAGCCAGCCT	0.373000													16	87					0	0	0.575678	0	0
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	G	A	rs148297848	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:41010795G>A	ENST00000373161.1	+	2	316	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TSPO2_ENST00000470917.1_Missense_Mutation_p.R24H|TSPO2_ENST00000373158.2_Missense_Mutation_p.R24H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	24					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.R24H(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTTCACTCGTGATCACATG	0.552000													130	137					0	0	0.870114	0	0
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:109055932T>C	ENST00000261401.3	-	4	493	c.321A>G	c.(319-321)gtA>gtG	p.V107V	CORO1C_ENST00000420959.2_Silent_p.V160V|CORO1C_ENST00000549772.1_Silent_p.V113V|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Silent_p.V107V|CORO1C_ENST00000421578.2_Silent_p.V2V	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	107					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.V107V(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGATCTGCCATACCTGTTGGA	0.438000													15	29					0	0	0.557998	0	0
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:228497784C>A	ENST00000409066.1	-	1	252	c.18G>T	c.(16-18)ctG>ctT	p.L6L	C2orf83_ENST00000264387.4_Silent_p.L6L	NM_001162483.1	NP_001155955.1	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	6						membrane	folic acid binding|reduced folate carrier activity	p.L6L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTCCAAACGTCAGGGCATAGT	0.428000													110	163					1.22493e-33	1.56353e-33	0.870114	1	0
CUL5	8065	broad.mit.edu	37	11	107965125	107965125	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:107965125G>A	ENST00000393094.2	+	14	2067	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	484					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.G484D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TAGGAAGTTGGTATGCCAGCG	0.289000													20	80					0	0	0.667858	0	0
NCKAP1	10787	broad.mit.edu	37	2	183841674	183841674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:183841674C>A	ENST00000360982.2	-	16	2205	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y	NCKAP1_ENST00000361354.3_Missense_Mutation_p.D477Y	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	477					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.D483Y(1)|p.D483N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCCCCATCTTCAACTGTA	0.264000													7	89					3.09899e-07	3.3098e-07	0.307466	1	0
POLR2D	5433	broad.mit.edu	37	2	128610524	128610524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128610524T>A	ENST00000272645.4	-	2	285	c.229A>T	c.(229-231)Aga>Tga	p.R77*	POLR2D_ENST00000409698.1_Nonsense_Mutation_p.R39*|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409955.1_Nonsense_Mutation_p.R77*	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	77					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.R77*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		ATGGTCTCTCTGTTTTTGAAA	0.438000													22	171					0	0	0.729181	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92714702G>C	ENST00000257068.2	+	2	319	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	105					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.G105R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCTATGACGGCTGGGCCCT	0.572000													133	236					0	0	0.870114	0	0
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:135431523C>T	ENST00000394143.1	+	6	5949	c.5658C>T	c.(5656-5658)ccC>ccT	p.P1886P	GPR112_ENST00000412101.1_Silent_p.P1681P|GPR112_ENST00000370652.1_Silent_p.P1886P|GPR112_ENST00000287534.4_Silent_p.P1823P|GPR112_ENST00000394141.1_Silent_p.P1681P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1886					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1886P(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAACATACCCACAGCTGAAG	0.443000													135	306					0	0	0.870114	0	0
VDAC3	7419	broad.mit.edu	37	8	42259420	42259420	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:42259420C>T	ENST00000392935.3	+	7	584	c.441C>T	c.(439-441)ttC>ttT	p.F147F	VDAC3_ENST00000521158.1_Silent_p.F147F|VDAC3_ENST00000022615.4_Silent_p.F146F|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	146					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.F146F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGTTGGCCTTCGAAGGGTGGC	0.463000													11	77					0	0	0.411799	0	0
NMT2	9397	broad.mit.edu	37	10	15210517	15210517	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15210517G>C	ENST00000378165.4	-	1	175	c.95C>G	c.(94-96)aCg>aGg	p.T32R	NMT2_ENST00000378150.1_Missense_Mutation_p.R5G	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	32					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.T32R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGCGTGCTCCGTCTCCTCCTC	0.726000													3	6					0	0	0.115264	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:35541202C>A	ENST00000287272.2	+	5	728	c.708C>A	c.(706-708)atC>atA	p.I236I	UNC5D_ENST00000416672.1_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000404895.2_Silent_p.I236I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000													57	100					2.69673e-31	3.39918e-31	0.870114	1	0
DIAPH3	81624	broad.mit.edu	37	13	60590252	60590252	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:60590252C>A	ENST00000400324.4	-	6	874	c.654G>T	c.(652-654)ggG>ggT	p.G218G	DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3_ENST00000400319.1_Silent_p.G148G|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000377908.2_Silent_p.G207G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	218	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.G218G(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAATCCAAGCCCTTCATGTC	0.313000													12	84					0.0242445	0.0244173	0.479597	1	0
CLTCL1	8218	broad.mit.edu	37	22	19175510	19175510	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:19175510C>G	ENST00000263200.10	-	28	4489	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1473Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1473	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCTCCTCCTCTGTCAGCAGG	0.592000			T	?	ALCL								8	116					0	0	0.387290	0	0
NBEAP1	606	broad.mit.edu	37	15	20874844	20874844	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:20874844C>A	ENST00000556948.1	-	0	404																											ATTAATAACCCAGTAGTAATA	0.343000													16	194					1.56452e-12	1.77137e-12	0.557998	1	0
LIPI	149998	broad.mit.edu	37	21	15535832	15535832	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:15535832T>C	ENST00000344577.2	-	7	1002	c.977A>G	c.(976-978)aAg>aGg	p.K326R	LIPI_ENST00000536861.1_Missense_Mutation_p.K305R	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	305					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K326R(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTAAATAGCTTGGCTTGATA	0.328000													24	325					0	0	0.717897	0	0
BRINP3	339479	broad.mit.edu	37	1	190067152	190067152	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:190067152C>A	ENST00000367462.3	-	8	2528	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	FAM5C_ENST00000534846.1_Missense_Mutation_p.S664I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		766						extracellular region		p.S766I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATGGTTAACTACATAATTT	0.373000													64	419					7.14181e-18	8.44466e-18	0.870114	1	0
CYP24A1	1591	broad.mit.edu	37	20	52774070	52774070	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:52774070C>T	ENST00000216862.3	-	10	1684	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D289N	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	431					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.D431N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGACTTGAATCTTCAAAATTG	0.393000													37	212					0	0	0.870114	0	0
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79616095C>G	ENST00000296739.4	+	1	306	c.61C>G	c.(61-63)Cct>Gct	p.P21A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P21A(2)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAACCCTACTCCTGATCCTCA	0.473000													96	300					0	0	0.870114	0	0
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:215279129A>G	ENST00000312504.5	+	2	1014	c.212A>G	c.(211-213)cAt>cGt	p.H71R	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.H71R	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	71	VWFC 1.					extracellular region		p.H71R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCCCTGGGCATTCCAACTGT	0.453000													34	52					0	0	0.804634	0	0
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:53103731G>T	ENST00000408890.4	+	1	383	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123								p.G123W(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATGAAAGGGGGGCTGTGTCG	0.701000													4	30					1.23904e-05	1.2959e-05	0.184627	1	0
PDE6A	5145	broad.mit.edu	37	5	149274852	149274852	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149274852G>T	ENST00000255266.5	-	13	1741	c.1620_splice	c.e13-1	p.A541_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	541					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCACCAGGGCCTGTGAACA	0.542000													36	116					2.09667e-21	2.52565e-21	0.788014	1	0
HPS5	11234	broad.mit.edu	37	11	18313029	18313029	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18313029A>T	ENST00000396253.3	-	15	2520	c.2058T>A	c.(2056-2058)aaT>aaA	p.N686K	HPS5_ENST00000349215.3_Missense_Mutation_p.N800K|HPS5_ENST00000438420.2_Missense_Mutation_p.N686K|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	800						cytosol		p.N800K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGAAGGGCTATTACTGTAAC	0.353000									Hermansky-Pudlak syndrome				7	60					0	0	0.361761	0	0
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:143181690G>A	ENST00000513000.1	-	12	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	INPP4B_ENST00000308502.4_Missense_Mutation_p.P215S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215S|INPP4B_ENST00000508116.1_Missense_Mutation_p.P215S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279000													65	91					0	0	0.870114	0	0
LRRCC1	85444	broad.mit.edu	37	8	86057622	86057622	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:86057622A>G	ENST00000414626.2	+	18	3805		c.e18-1		LRRCC1_ENST00000360375.3_Splice_Site			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						cell division|mitosis	centriole|nucleus		p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATGTCGATTTAGGTCCATCAA	0.264000													6	17					0	0	0.248553	0	0
ICA1L	130026	broad.mit.edu	37	2	203653590	203653590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:203653590G>A	ENST00000392237.2	-	12	1363	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	ICA1L_ENST00000358299.2_Silent_p.L402L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	402								p.L402L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAGGTCAAAGAGTTGTGAAG	0.483000													26	209					0	0	0.750413	0	0
FADS6	283985	broad.mit.edu	37	17	72875562	72875562	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72875562G>A	ENST00000310226.6	-	5	892	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	299					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.P298L(1)|p.P293L(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAGAGCCTGGGGAATAGATG	0.582000													6	29					0	0	0.278610	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	G	T	rs142320179		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:6606404G>T	ENST00000433363.2	-	5	834	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	SLC13A5_ENST00000381074.4_Silent_p.R158R|SLC13A5_ENST00000293800.6_Silent_p.R184R|SLC13A5_ENST00000573648.1_Silent_p.R201R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	201						integral to membrane	citrate transmembrane transporter activity	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACCTCTTCCGCTCTTGGTCT	0.632000													36	64					1.22674e-20	1.46773e-20	0.840704	1	0
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:315104G>T	ENST00000408968.3	+	2	687	c.369G>T	c.(367-369)cgG>cgT	p.R123R	IFITM1_ENST00000328221.5_Silent_p.R123R|IFITM1_ENST00000528780.1_Silent_p.R123R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	p.R123R(2)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAAAACGGGGTTACTAGT	0.527000													4	19					4.096e-09	4.49003e-09	0.217242	1	0
DNAH7	56171	broad.mit.edu	37	2	196664137	196664137	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:196664137T>A	ENST00000312428.6	-	55	10336	c.10236A>T	c.(10234-10236)ccA>ccT	p.P3412P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3412	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3412P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAGGGGGGTGGTTCAATGA	0.428000													73	350					0	0	0.870114	0	0
CD276	80381	broad.mit.edu	37	15	73991925	73991925	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:73991925A>G	ENST00000318443.5	+	2	248		c.e2-1		CD276_ENST00000561213.1_Splice_Site|CD276_ENST00000537340.2_Intron|CD276_ENST00000318424.5_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCTTTCTCCCAGGCAGGGGCA	0.637000													8	21					0	0	0.278610	0	0
SCN10A	6336	broad.mit.edu	37	3	38770045	38770045	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:38770045T>C	ENST00000449082.2	-	15	2627	c.2628A>G	c.(2626-2628)ctA>ctG	p.L876L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	876					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGGTTCCCTAGCACCATCA	0.502000													29	121					0	0	0.788014	0	0
CEP152	22995	broad.mit.edu	37	15	49059597	49059597	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49059597T>A	ENST00000380950.2	-	16	2269	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	CEP152_ENST00000399334.3_Missense_Mutation_p.L694F|CEP152_ENST00000325747.5_Missense_Mutation_p.L601F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	694					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATGCTTTGCTAATAGGCTTT	0.438000													45	109					0	0	0.870114	0	0
PTGER2	5732	broad.mit.edu	37	14	52781297	52781297	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:52781297G>A	ENST00000245457.5	+	1	185	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	11						integral to plasma membrane	prostaglandin E receptor activity	p.E11K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCCCAGTCTGAGGACTGCGA	0.627000													4	8					0	0	0.217242	0	0
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:42511835G>C	ENST00000318522.5	+	9	1265	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	EML4_ENST00000402711.2_Missense_Mutation_p.D277H|EML4_ENST00000401738.3_Missense_Mutation_p.D346H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.D335H(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGGATAAAGATGGAAGGGT	0.368000			T	ALK	NSCLC								45	193					0	0	0.870114	0	0
CASP5	838	broad.mit.edu	37	11	104879735	104879735	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:104879735C>G	ENST00000393141.2	-	2	50	c.19G>C	c.(19-21)Gtt>Ctt	p.V7L	CASP5_ENST00000526056.1_Missense_Mutation_p.V7L|CASP5_ENST00000260315.3_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.V7L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACTCCTTCAACTCTGGGCACA	0.373000													8	82					0	0	0.307466	0	0
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:52257047C>A	ENST00000597542.1	-	9	2314	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	TLR9_ENST00000494383.1_Missense_Mutation_p.R582L|TLR9_ENST00000360658.2_Nonsense_Mutation_p.G429*			Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCGAAGCTCCGCTGATGCGG	0.642000													28	51					9.65021e-13	1.09524e-12	0.750413	1	0
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31793152A>T	ENST00000396193.1	-	19	2749	c.2156T>A	c.(2155-2157)tTg>tAg	p.L719*	PDE1C_ENST00000396191.1_Nonsense_Mutation_p.L659*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.L659*	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L659*(2)|p.L719*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAAATGACGCAAAGGAGGCTT	0.483000													91	221					0	0	0.870114	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923746	144923746	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:144923746C>T	ENST00000529945.1	-	2	1640	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D304N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D375N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D375N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D401N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D25N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D238N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	238				R -> Q (in Ref. 4; CAD91152).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.D238N(2)|p.D401N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGTGGGAATCAGATACAGAC	0.438000			T	PDGFRB	MPD								25	318					0	0	0.729181	0	0
KRT82	3888	broad.mit.edu	37	12	52788853	52788853	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52788853G>T	ENST00000257974.2	-	9	1525	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGCTCGCAGGGGACATAGAG	0.632000													10	30					1.76689e-08	1.919e-08	0.335167	1	0
PROS1	5627	broad.mit.edu	37	3	93646105	93646105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:93646105C>A	ENST00000394236.3	-	2	539	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTTTCCGGGTCATTTTCAAAG	0.393000													77	297					2.24849e-53	3.02871e-53	0.870114	1	0
KCTD1	284252	broad.mit.edu	37	18	24035815	24035815	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:24035815C>T	ENST00000417602.1	-	5	2489	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	KCTD1_ENST00000317932.7_Silent_p.G222G|KCTD1_ENST00000408011.3_Silent_p.G222G|KCTD1_ENST00000579973.1_Silent_p.G222G|KCTD1_ENST00000580059.1_Silent_p.G222G	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	222					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	p.G830G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTACTCCTCCCCCACAGGAGC	0.572000													18	98					0	0	0.575678	0	0
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:116599299C>A	ENST00000395715.3	-	5	3206	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	TRPS1_ENST00000520276.1_Missense_Mutation_p.G868W|TRPS1_ENST00000519076.1_Missense_Mutation_p.G618W|TRPS1_ENST00000519674.1_Missense_Mutation_p.G864W|TRPS1_ENST00000220888.5_Missense_Mutation_p.G864W	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	864					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G877W(2)|p.G864W(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGAGGGCCCCAGACTTCTCT	0.547000									Langer-Giedion syndrome				12	39					1.2644e-06	1.34129e-06	0.592651	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99662084G>A	ENST00000543588.1	+	6	1407	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000292450.4_Silent_p.G422G|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G388E			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	231					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G422G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGTGTGGGAAAGCCTTCA	0.512000													26	79					0	0	0.760397	0	0
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:24631533G>T	ENST00000396864.3	+	2	467	c.180_splice	c.e2+1	p.K60_splice	IRF9_ENST00000557894.1_Intron|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	60					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.K60N(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTTCTTCAAGGTGAAAGGGC	0.532000													19	101					1.55795e-14	1.78974e-14	0.608945	1	0
METTL13	51603	broad.mit.edu	37	1	171756899	171756899	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:171756899G>A	ENST00000361735.3	+	4	1404	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	METTL13_ENST00000367737.5_Missense_Mutation_p.D224N|METTL13_ENST00000458517.1_Missense_Mutation_p.D379N|METTL13_ENST00000362019.3_Missense_Mutation_p.D294N	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	380							methyltransferase activity|protein binding	p.D380N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGTGGGTGGGGACATTGGGGT	0.502000													14	106					0	0	0.575678	0	0
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6129473G>T	ENST00000316529.3	+	1	560	c.465G>T	c.(463-465)atG>atT	p.M155I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M155I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCATCATGCTCAGGAATG	0.502000													72	302					9.04243e-43	1.18966e-42	0.870114	1	0
BCLAF1	9774	broad.mit.edu	37	6	136594296	136594296	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:136594296G>A	ENST00000531224.1	-	7	2134	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L	BCLAF1_ENST00000353331.4_Silent_p.L626L|BCLAF1_ENST00000527536.1_Silent_p.L628L|BCLAF1_ENST00000530767.1_Silent_p.L455L|BCLAF1_ENST00000527759.1_Silent_p.L626L|BCLAF1_ENST00000392348.2_Silent_p.L626L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	628					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.L628L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCTCGTTTAGGGTCATTGCA	0.408000													13	294					0	0	0.435327	0	0
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:58116633G>C	ENST00000357272.4	+	25	4553	c.4388G>C	c.(4387-4389)cGa>cCa	p.R1463P	FLNB_ENST00000419752.2_Missense_Mutation_p.R1294P|FLNB_ENST00000493452.1_Missense_Mutation_p.R1294P|FLNB_ENST00000490882.1_Missense_Mutation_p.R1463P|FLNB_ENST00000348383.5_Missense_Mutation_p.R1463P|FLNB_ENST00000295956.4_Missense_Mutation_p.R1463P|FLNB_ENST00000358537.3_Missense_Mutation_p.R1463P|FLNB_ENST00000429972.2_Missense_Mutation_p.R1463P			O75369	FLNB_HUMAN	filamin B, beta	1463	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R1463P(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGGGCCCACGAGGTAAGTGT	0.617000													10	49					0	0	0.411799	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724115	38724115	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:38724115G>T	ENST00000342213.2	-	1	1459	c.1113C>A	c.(1111-1113)acC>acA	p.T371T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	371						integral to membrane	sugar binding	p.T371T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCTGATGGGGTGATAGTGG	0.488000													11	107					1.08611e-07	1.16616e-07	0.387290	1	0
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:230020567C>G	ENST00000392054.3	-	3	576	c.237G>C	c.(235-237)ccG>ccC	p.P79P	PID1_ENST00000392055.3_Silent_p.P48P|PID1_ENST00000354069.6_Silent_p.P81P|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81						cytoplasm		p.P79P(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTTCATCAGCGGTGTGGTCG	0.527000													85	276					0	0	0.870114	0	0
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:54456044G>A	ENST00000296734.6	+	1	48	c.24G>A	c.(22-24)ccG>ccA	p.P8P	CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Silent_p.P8P|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000503787.1_Silent_p.P8P|CDC20B_ENST00000322374.6_Intron			Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGCTTACCCGCTAAAATGTT	0.443000													11	45					0	0	0.500413	0	0
NKTR	4820	broad.mit.edu	37	3	42680905	42680905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:42680905G>T	ENST00000232978.8	+	13	3897	c.3709G>T	c.(3709-3711)Gca>Tca	p.A1237S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1237					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.A1237S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAACCTGGCAGCACCTAATGC	0.478000													38	102					1.02591e-13	1.17377e-13	0.853193	1	0
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55681456G>A	ENST00000344514.1	-	1	602	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388000													26	111					0	0	0.750413	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:111519791C>A	ENST00000261486.5	-	18	1820	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.W515L(2)|p.W142L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TACAGCTTCCCACTGAGGCGC	0.453000													51	192					3.94638e-17	4.61991e-17	0.870114	1	0
VIM	7431	broad.mit.edu	37	10	17278356	17278356	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:17278356C>G	ENST00000544301.1	+	9	1750	c.1337C>G	c.(1336-1338)aCg>aGg	p.T446R	VIM_ENST00000224237.5_Missense_Mutation_p.T446R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	446	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.T446R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGATTAAGACGGTTGAAACT	0.353000													34	102					0	0	0.840704	0	0
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:142190928G>T	ENST00000519811.1	+	17	2989	c.2919G>T	c.(2917-2919)gcG>gcT	p.A973A	DENND3_ENST00000262585.2_Silent_p.A893A|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000424248.1_Silent_p.A841A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893								p.A893A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACAAGCGGTGGACGTGC	0.577000													17	41					2.32416e-17	2.73214e-17	0.624587	1	0
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:60566883G>T	ENST00000373886.3	+	17	2345	c.2341G>T	c.(2341-2343)Gtg>Ttg	p.V781L	BICC1_ENST00000263103.1_Missense_Mutation_p.V407L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	781					multicellular organismal development		RNA binding	p.V781L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCCAATCATGTGTCCTATAA	0.468000													96	179					1.39691e-52	1.87627e-52	0.870114	1	0
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62294197C>A	ENST00000378024.4	-	5	7966	c.7692G>T	c.(7690-7692)ggG>ggT	p.G2564G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2564					nervous system development	nucleus	protein binding	p.G2564G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACTTAGGCCCTTTCAACT	0.483000													64	170					7.45626e-27	9.18544e-27	0.870114	1	0
PRNP	5621	broad.mit.edu	37	20	4680383	4680383	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:4680383A>C	ENST00000379440.4	+	2	804	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PRNP_ENST00000430350.2_Missense_Mutation_p.N173H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	173	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.N173H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CAGCAACCAGAACAACTTTGT	0.493000													24	164					0	0	0.706142	0	0
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:90020012A>T	ENST00000268122.4	-	9	1353	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	RHCG_ENST00000544600.1_Missense_Mutation_p.C429S	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.C429S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTCAAAGCAGTTCTCATCT	0.547000													25	62					0	0	0.760397	0	0
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:20404000G>A	ENST00000381150.1	-	4	591	c.201C>T	c.(199-201)gaC>gaT	p.D67D	SDC1_ENST00000403076.1_Silent_p.D67D|SDC1_ENST00000254351.4_Silent_p.D67D|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	67					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.D67D(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGAGCTGCGTGTCCTTCCAAG	0.637000													47	50					0	0	0.870114	0	0
COL4A1	1282	broad.mit.edu	37	13	110817207	110817207	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:110817207A>T	ENST00000375820.4	-	46	4272		c.e46+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCTTCTCACCTTGCTGGC	0.597000													8	54					0	0	0.361761	0	0
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60636693C>T	ENST00000278853.5	+	2	272	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	91					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P91L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCAGGAGCCTGCAGTCTTC	0.577000													16	20					0	0	0.608945	0	0
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:48543473G>T	ENST00000317697.3	-	4	712	c.543C>A	c.(541-543)aaC>aaA	p.N181K	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N181K	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	181					intracellular signal transduction	cytoplasm|nucleus		p.N181K(2)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGCCTATTAGGTTGATGACTC	0.522000													10	72					5.16669e-11	5.78947e-11	0.387290	1	0
HERC2	8924	broad.mit.edu	37	15	28525302	28525302	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:28525302T>C	ENST00000261609.7	-	5	562	c.454A>G	c.(454-456)Att>Gtt	p.I152V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	152					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I152V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCAAGGCAATGAAATAGCGC	0.498000													5	112					0	0	0.217242	0	0
VPS13C	54832	broad.mit.edu	37	15	62212764	62212764	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:62212764G>T	ENST00000261517.5	-	56	7218	c.7145C>A	c.(7144-7146)tCt>tAt	p.S2382Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.S2339Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2382Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2339Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2382					protein localization			p.S2382Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTCCTGAAGAAATATGAAT	0.308000													10	34					2.80697e-09	3.08178e-09	0.387290	1	0
TSHR	7253	broad.mit.edu	37	14	81610458	81610458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:81610458C>A	ENST00000541158.2	+	11	2378	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	TSHR_ENST00000298171.2_Missense_Mutation_p.Q686K|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAGGCCTTCCAGAGGGATGT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						93	714					2.94851e-48	3.92671e-48	0.870114	1	0
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	C	A	rs145032542	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:27169157C>A	ENST00000360046.5	-	2	715	c.650G>T	c.(649-651)cGc>cTc	p.R217L	HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.R217L|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGTTCGAGAGCGCTTAGGCTC	0.592000													7	23					0.000274275	0.000282884	0.307466	1	0
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124103792T>A	ENST00000360013.3	+	11	1992	c.1865T>A	c.(1864-1866)cTg>cAg	p.L622Q	KALRN_ENST00000460856.1_Missense_Mutation_p.L622Q|KALRN_ENST00000240874.3_Missense_Mutation_p.L622Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	622					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L622Q(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTCGACACCTGGAGGTGCGC	0.562000													24	102					0	0	0.639603	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285754	85285754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:85285754G>T	ENST00000450363.3	-	2	604	c.146C>A	c.(145-147)aCa>aAa	p.T49K	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.T49K	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCAACATCTGTATCTTTCTC	0.408000													58	397					2.32817e-41	3.05167e-41	0.870114	1	0
NTSR1	4923	broad.mit.edu	37	20	61386117	61386117	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:61386117C>T	ENST00000370501.3	+	2	1166	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	265						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.V265V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGCTGACCGTCATGGTACGCC	0.617000													4	57					0	0	0.184627	0	0
NUP214	8021	broad.mit.edu	37	9	134022940	134022940	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:134022940C>T	ENST00000359428.5	+	14	2153	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NUP214_ENST00000411637.2_Missense_Mutation_p.T660I|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T671I|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	670	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.T670I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCAGGATAACCCCTCCAGCG	0.443000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								11	282					0	0	0.457914	0	0
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:75265292C>T	ENST00000325680.7	+	5	3416	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q903*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Q1098*(2)|p.Q903*(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGTGGTCTTCAAGGGAGCCA	0.602000													77	67					0	0	0.870114	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:175614714C>A	ENST00000348749.5	-	7	1039	c.962G>T	c.(961-963)cGc>cTc	p.R321L	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557000													85	87					9.24384e-23	1.11733e-22	0.870114	1	0
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:45397883C>G	ENST00000389039.6	-	18	2677	c.2292G>C	c.(2290-2292)cgG>cgC	p.R764R	DUOX2_ENST00000603300.1_Silent_p.R764R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	764					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	p.R764R(2)		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)		GGATGCGTTCCCGCTGCTGCT	0.557000													16	46					0	0	0.539581	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305589	110305589	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110305589G>C	ENST00000239690.4	-	4	998	c.624C>G	c.(622-624)atC>atG	p.I208M	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I179M	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	208								p.I208M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTTCTTACTGATAGTGACCC	0.363000													77	536					0	0	0.870114	0	0
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:169528470C>T	ENST00000367796.3	-	5	852	c.651G>A	c.(649-651)gtG>gtA	p.V217V	F5_ENST00000546081.1_Silent_p.V80V|F5_ENST00000367797.3_Silent_p.V217V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	217	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V217V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCATCAAACACAGCAAATA	0.463000													204	266					0	0	0.870114	0	0
TDRD3	81550	broad.mit.edu	37	13	61068588	61068588	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:61068588G>T	ENST00000196169.3	+	8	1246	c.458G>T	c.(457-459)gGt>gTt	p.G153V	TDRD3_ENST00000377881.2_Missense_Mutation_p.G153V|TDRD3_ENST00000377894.2_Missense_Mutation_p.G153V|TDRD3_ENST00000535286.1_Missense_Mutation_p.G246V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	153					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.G153V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTTGGAGGAGGTGGTGGTGGT	0.353000													18	133					1.73308e-25	2.12205e-25	0.608945	1	0
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:39884738G>T	ENST00000341184.6	+	2	1601	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	462					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.G462G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCGCACCGGGGGCTGGTTCG	0.627000													17	3					6.49762e-13	7.38033e-13	0.539581	1	0
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219507065G>A	ENST00000411696.2	-	7	4953	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1392W			P52746	ZN142_HUMAN	zinc finger protein 142	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1229W(2)|p.R1392W(2)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCCCACCCGCTCCCGGGCA	0.637000													43	54					0	0	0.870114	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:21947917C>T	ENST00000406877.3	-	4	791	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R137H|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R125H|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	171					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R171H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTCTGTAAGCGTGCGCTAGA	0.428000													17	75					0	0	0.539581	0	0
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:105515907C>G	ENST00000332180.5	+	10	764	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	226					endosome transport	WASH complex		p.S226C(2)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTACTGAAATCTGTCCATCAC	0.289000													24	42					0	0	0.717897	0	0
C20orf194	25943	broad.mit.edu	37	20	3262307	3262307	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:3262307C>T	ENST00000252032.9	-	28	2659	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	864								p.M864I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTAGCAGCTCATGGGCTCCA	0.483000													28	196					0	0	0.750413	0	0
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58477469G>C	ENST00000344743.3	-	6	802	c.661C>G	c.(661-663)Cta>Gta	p.L221V	GLYAT_ENST00000529732.1_Missense_Mutation_p.L221V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	221					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.L221V(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTCCATTAGATCCCAGCAC	0.552000													45	93					0	0	0.870114	0	0
OR10A7	121364	broad.mit.edu	37	12	55615275	55615275	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55615275C>A	ENST00000326258.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S156Y(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTTCCTGTGTCTATGCTACAG	0.483000													14	220					4.7546e-09	5.19185e-09	0.500413	1	0
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	G	T	rs115610738	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:74682559G>T	ENST00000233331.7	+	2	179	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.G29C	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	29					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G16C(2)|p.G29C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGCCTGGCGGGTGCCCATGG	0.562000													3	8					2.56e-06	2.7035e-06	0.150653	1	0
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11917571A>T	ENST00000323169.5	+	3	1134	c.803A>T	c.(802-804)gAg>gTg	p.E268V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E268V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACACTGGAGAGAGGCCTCAT	0.413000													46	41					0	0	0.870114	0	0
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:34295058T>C	ENST00000361162.6	-	14	1657	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	RBM39_ENST00000407261.4_Missense_Mutation_p.M274V|RBM39_ENST00000528062.3_Missense_Mutation_p.M409V|RBM39_ENST00000253363.6_Missense_Mutation_p.M431V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	431	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.M431V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGGTTAAACATGTTAGAGAGT	0.323000													41	97					0	0	0.870114	0	0
WNT9A	7483	broad.mit.edu	37	1	228109549	228109549	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:228109549G>A	ENST00000272164.5	-	4	778	c.768C>T	c.(766-768)acC>acT	p.T256T	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	256					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CTTCATTGGTGGTGCTGCCCA	0.672000													3	22					0	0	0.115264	0	0
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:48805800T>G	ENST00000316623.5	-	13	1989	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	512	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.T512P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGACAGGTGTACGAACCC	0.473000													11	116					0	0	0.411799	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540407	115540407	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:115540407A>G	ENST00000354462.3	+	6	622	c.464A>G	c.(463-465)cAt>cGt	p.H155R	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H323R|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H239R					pleckstrin homology domain containing, family S member 1									p.H323R(1)									GAGACATTCCATGCTGCATCC	0.423000													41	85					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179451993	179451993	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179451993G>T	ENST00000589042.1	-	307	64169	c.63945C>A	c.(63943-63945)acC>acA	p.T21315T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T12250T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T18747T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.T19674T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.T12375T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.T12442T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19674	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18747T(1)|p.T12250T(1)|p.T18745T(1)|p.T12442T(1)|p.T12375T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGGTAACGGTCGACCATG	0.488000													14	116					0.000308642	0.000318097	0.479597	1	0
CHMP4B	128866	broad.mit.edu	37	20	32436305	32436305	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32436305T>C	ENST00000217402.2	+	2	388	c.223T>C	c.(223-225)Tat>Cat	p.Y75H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	75					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.Y75H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAAGAAGAGGTATGAGAAGCA	0.567000													23	89					0	0	0.760397	0	0
LILRP2	79166	broad.mit.edu	37	19	55221963	55221963	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55221963C>T	ENST00000413439.1	+	0	1490																											CGTGACCCTGCTGTGTCAGTC	0.622000													21	82					0	0	0.608945	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696877	205696877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:205696877G>A	ENST00000367142.4	-	3	426	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	42						nucleus		p.R42*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTAGCTTCTCGGGGAGATGAT	0.378000													16	91					0	0	0.557998	0	0
DPP4	1803	broad.mit.edu	37	2	162876803	162876803	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:162876803A>T	ENST00000360534.3	-	14	1740	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	394					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.C394S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAAATGTGCAGTCCTGATGG	0.323000													9	80					0	0	0.307466	0	0
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76243112A>G	ENST00000298832.9	+	23	2511	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TTLL5_ENST00000557636.1_Missense_Mutation_p.K783R|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.K278R|TTLL5_ENST00000556893.1_Missense_Mutation_p.K320R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.K769R(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGCTGAAAAGAAATCAAAG	0.378000													230	112					0	0	0.870114	0	0
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:56544115G>C	ENST00000390649.3	+	8	2415	c.2415G>C	c.(2413-2415)ctG>ctC	p.L805L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	805						mitochondrion|nucleolus	ATP binding	p.L805L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGCCAAGCTGAGGCATCCCA	0.607000													37	251					0	0	0.859065	0	0
MTG2	26164	broad.mit.edu	37	20	60775750	60775750	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:60775750C>T	ENST00000370823.3	+	7	856	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	MTG2_ENST00000536470.1_Missense_Mutation_p.P52S|MTG2_ENST00000436421.2_Missense_Mutation_p.P122S	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.P280F(1)									GGCCGACATCCCCGGCATCAT	0.637000													10	47					0	0	0.608945	0	0
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:58786579G>A	ENST00000589222.1	+	5	282		c.e5-1		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCTAATGCAGATACATCAAG	0.343000													41	64					0	0	0.827153	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486733	20486733	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:20486733A>C	ENST00000573854.1	+	7	1058	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Y87S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Y236S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Y315S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Y315S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Y315S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.Y315S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCATTGTTTACCGGATGTTG	0.507000													68	251					0	0	0.870114	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716437	142716437	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:142716437C>G	ENST00000381779.4	-	2	2713	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E830Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E830Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	830						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTTGCTCCTCAAGGACC	0.398000													23	46					0	0	0.667858	0	0
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:22211041T>C	ENST00000374695.3	-	13	1713	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	545	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.D545G(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCGGGTTGGTCAAAGCGCAG	0.662000													5	16					0	0	0.217242	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503611	32503611	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:32503611C>A	ENST00000327300.7	+	6	1248	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P322T	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	361	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P361T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCTCCACCTCCTGCACCAGA	0.527000													34	162					2.04263e-09	2.24785e-09	0.796494	1	0
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:21235014C>A	ENST00000233242.1	-	26	4853	c.4726G>T	c.(4726-4728)Ggg>Tgg	p.G1576W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1576W(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATACTTCCCATTGGTGTCA	0.413000													79	86					1.35321e-17	1.59341e-17	0.870114	1	0
DACH1	1602	broad.mit.edu	37	13	72053322	72053322	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:72053322C>A	ENST00000305425.4	-	8	2277	c.1855G>T	c.(1855-1857)Gct>Tct	p.A619S	DACH1_ENST00000359684.2_Missense_Mutation_p.A671S|DACH1_ENST00000313174.7_Missense_Mutation_p.A471S|DACH1_ENST00000354591.4_Missense_Mutation_p.A417S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	669	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A619S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTTCCATAGCCAACTGCTTC	0.328000													30	111					7.63091e-17	8.90378e-17	0.834066	1	0
SACS	26278	broad.mit.edu	37	13	23913317	23913317	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:23913317G>A	ENST00000382298.3	-	10	5286	c.4698C>T	c.(4696-4698)atC>atT	p.I1566I	SACS_ENST00000382292.3_Silent_p.I1566I|SACS_ENST00000402364.1_Silent_p.I816I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1566					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGTCAGTGATATGGTACA	0.343000													4	97					0	0	0.217242	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:122263423T>A	ENST00000398250.1	+	2	502	c.150T>A	c.(148-150)ccT>ccA	p.P50P	PPAPDC1A_ENST00000541332.1_Silent_p.P50P|PPAPDC1A_ENST00000439221.1_Silent_p.P50P|PPAPDC1A_ENST00000369073.3_Silent_p.P40P|PPAPDC1A_ENST00000398248.1_Silent_p.P50P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	50					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.P50P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATAACATACCTACCCGCCTCA	0.393000													22	63					0	0	0.654019	0	0
ZNF713	349075	broad.mit.edu	37	7	55990964	55990964	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55990964G>C	ENST00000429591.2	+	2	196	c.158G>C	c.(157-159)aGg>aCg	p.R53T	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.R53T	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAACTACAGGAATCTAGTT	0.512000													138	389					0	0	0.870114	0	0
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:72680629G>T	ENST00000261180.4	+	2	1044	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W316C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGATGGATGGGTTACGGATC	0.418000													72	108					1.43161e-34	1.8373e-34	0.870114	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140789165C>G	ENST00000520790.1	+	1	1396	c.1396C>G	c.(1396-1398)Ccg>Gcg	p.P466A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.P466A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGAACAACCCGCCAGGAGC	0.567000													5	10					0	0	0.307466	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318258	141318258	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:141318258C>T	ENST00000432126.2	+	12	1616	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KIAA0141_ENST00000194118.4_Silent_p.S494S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	494					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.S494S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGCCTCCAGCAGGGCTA	0.567000													41	208					0	0	0.870114	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101043	27101043	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:27101043G>A	ENST00000359193.2	+	1	212	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	65					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.E65K(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGAGATCCTGGAACTGGCGGG	0.662000													13	65					0	0	0.479597	0	0
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:173998896C>T	ENST00000457714.1	+	7	2704	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	NLGN1_ENST00000361589.4_Missense_Mutation_p.P759S|NLGN1_ENST00000545397.1_Missense_Mutation_p.P759S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P799S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P759S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GACCGCCTGTCCCCCAGATTA	0.458000													242	253					0	0	0.870114	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128066163G>C	ENST00000409947.1	-	16	1914	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	MAP3K2_ENST00000344908.5_Missense_Mutation_p.I544M			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	544	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.I544M(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		AAACCTACCAGATGTCTGCTT	0.453000													111	687					0	0	0.870114	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:130762655T>C	ENST00000392429.1	+	2	3466	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M363T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M363T	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363						integral to membrane		p.M363T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGTCATCTATGGCTCTCGGA	0.527000													35	154					0	0	0.840704	0	0
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:111395637C>T	ENST00000535254.1	-	24	3169	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	BUB1_ENST00000302759.6_Silent_p.L1054L|BUB1_ENST00000409311.1_Silent_p.L997L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1054	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L1054L(2)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATACTTTCTTCAGCTTTTGCC	0.338000													99	256					0	0	0.870114	0	0
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:89638909G>C	ENST00000369485.4	-	3	438	c.252C>G	c.(250-252)atC>atG	p.I84M	RNGTT_ENST00000265607.6_Missense_Mutation_p.I84M|RNGTT_ENST00000538899.1_Missense_Mutation_p.I24M|RNGTT_ENST00000369475.3_Missense_Mutation_p.I84M	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I84M(2)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTATATATTTGATTCCTTCTT	0.269000													17	34					0	0	0.639603	0	0
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27800472G>C	ENST00000408964.2	+	1	1084	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	345								p.D345H(4)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCACGTCCCAGATTCTGCTTC	0.443000													23	54					0	0	0.654019	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	47					0	0	0.624587	0	0
GRIK1	2897	broad.mit.edu	37	21	30971253	30971253	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:30971253C>T	ENST00000399914.1	-	8	1624	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	GRIK1_ENST00000309434.7_Missense_Mutation_p.R370Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R370Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R368Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.R368Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R368Q|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000399907.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R368Q|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000389125.3_Missense_Mutation_p.R368Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	368					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R368Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCCACCGGGCCTGTGG	0.383000													34	172					0	0	0.769981	0	0
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	G	A	rs61748538		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:94564460G>A	ENST00000370225.3	-	6	744	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R220C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	220			R -> C (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R220C(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTGCCCCGCGTCTCTGGCTG	0.602000													40	112					0	0	0.847076	0	0
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:38266182A>T	ENST00000379705.3	-	4	2045	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G	TRPC4_ENST00000379679.1_Silent_p.G223G|TRPC4_ENST00000338947.5_Silent_p.G223G|TRPC4_ENST00000379673.2_Silent_p.G396G|TRPC4_ENST00000447043.1_Silent_p.G396G|TRPC4_ENST00000426868.2_Silent_p.G396G|TRPC4_ENST00000358477.2_Silent_p.G396G|TRPC4_ENST00000355779.2_Silent_p.G396G|TRPC4_ENST00000379681.3_Silent_p.G396G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	396					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.G396G(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGGTGGTGGACCTTGCCTGT	0.433000													89	150					0	0	0.870114	0	0
ADCY1	107	broad.mit.edu	37	7	45743322	45743322	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:45743322G>A	ENST00000297323.7	+	16	2717	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	899					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.E899K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTTCTCAACGAGATCATCGC	0.592000													10	219					0	0	0.479597	0	0
EPYC	1833	broad.mit.edu	37	12	91365647	91365647	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:91365647G>T	ENST00000261172.3	-	5	724	c.632C>A	c.(631-633)aCc>aAc	p.T211N		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	211					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.T211K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGTCAAAGTGGTTGGCAATTC	0.368000													23	38					1.17739e-12	1.33413e-12	0.693898	1	0
SCN2A	6326	broad.mit.edu	37	2	166211143	166211143	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166211143G>A	ENST00000375437.2	+	17	3651	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1121K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1121K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1121K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1121					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1121K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAATACTGAAGAATTCAGCAG	0.323000													26	151					0	0	0.706142	0	0
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:22248914G>T	ENST00000324559.8	+	7	747	c.430G>T	c.(430-432)Gct>Tct	p.A144S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	144						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.A144S(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTACCTATGCTGAAGTCTT	0.433000													128	263					3.36081e-69	4.57939e-69	0.870114	1	0
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:53103547C>T	ENST00000408890.4	+	1	199	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	61								p.S61S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACTCAGAGCCATATTCAGT	0.701000													7	33					0	0	0.248553	0	0
COL4A6	1288	broad.mit.edu	37	X	107554023	107554023	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107554023C>A	ENST00000394872.2	-	3	330	c.99G>T	c.(97-99)caG>caT	p.Q33H	COL4A6_ENST00000372216.4_Missense_Mutation_p.Q34H|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000538570.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000545689.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000334504.7_Missense_Mutation_p.Q33H			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	34	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACTGCAGTCCTGGCCCCCAC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				116	291					4.00201e-40	5.21664e-40	0.870114	1	0
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180582654G>T	ENST00000328275.1	+	1	712	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A238S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAAAAGGCCCTGGCCAC	0.572000													58	159					2.40265e-35	3.08912e-35	0.870114	1	0
CNIH3	149111	broad.mit.edu	37	1	224872505	224872505	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:224872505G>C	ENST00000272133.3	+	3	1040	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	53					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.R53P(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TAGAGGGAACGGTTGAGGAAC	0.542000													46	287					0	0	0.870114	0	0
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	C	A	rs139579223	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:29786167C>A	ENST00000256062.5	-	6	1190	c.717G>T	c.(715-717)gaG>gaT	p.E239D	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.E409D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E301D|TMTC1_ENST00000539277.1_Missense_Mutation_p.E347D|TMTC1_ENST00000551659.1_Missense_Mutation_p.E409D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	347						integral to membrane	binding	p.E239D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCCATATGGTCTCTACCAGAG	0.507000													74	191					1.74474e-33	2.22101e-33	0.870114	1	0
ZNF548	147694	broad.mit.edu	37	19	57910783	57910783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57910783C>G	ENST00000366197.5	+	3	1378	c.1128C>G	c.(1126-1128)taC>taG	p.Y376*	ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Y388*|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y388*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTAGGTACAACTCCAGCC	0.403000													88	434					0	0	0.870114	0	0
MRPS30	10884	broad.mit.edu	37	5	44811251	44811251	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:44811251G>T	ENST00000507110.1	+	2	780	c.742G>T	c.(742-744)Gca>Tca	p.A248S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	248					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.A248S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CAAGCAACTCGCAGAGGTAAG	0.368000													14	81					3.41278e-10	3.78513e-10	0.520397	1	0
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:33328826G>A	ENST00000374796.2	-	12	7804	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1745F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S1745F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAAGGAGGGGAAGGAAGCTG	0.542000													26	71					0	0	0.706142	0	0
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113286318A>T	ENST00000233336.5	+	7	1271	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P360P(2)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGTCTTCCCACCCCCAGATG	0.512000			T	ETV6	ALL								111	208					0	0	0.870114	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140501728G>C	ENST00000194152.1	+	1	148	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542000													5	54					0	0	0.184627	0	0
NDST4	64579	broad.mit.edu	37	4	115750957	115750957	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:115750957T>C	ENST00000264363.2	-	13	3166	c.2488A>G	c.(2488-2490)Atg>Gtg	p.M830V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	830	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.M830V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTGGATCCATAGGTGGATAT	0.343000													25	43					0	0	0.706142	0	0
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:3328985G>T	ENST00000378398.3	+	10	2309	c.2227G>T	c.(2227-2229)Gac>Tac	p.D743Y	PRDM16_ENST00000511072.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D742Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	742	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D742Y(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCACGGACCGAGCCCT	0.647000			T	EVI1	"""MDS, AML"""								9	7					3.07112e-06	3.2336e-06	0.387290	1	0
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143995833A>G	ENST00000323110.2	-	5	803	c.799_splice	c.e5-1	p.G267_splice		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	267					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.G267G(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACAGTTGTCACCTGTCCAGG	0.577000									Familial Hyperaldosteronism type I				18	22					0	0	0.575678	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213203	28213203	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:28213203C>T	ENST00000377294.2	-	5	1572	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	ZKSCAN4_ENST00000423974.2_Silent_p.R288R	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	443					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R443R(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GATGTGAATTCCGCCTAAAGG	0.493000													12	141					0	0	0.411799	0	0
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:112031646T>G	ENST00000369716.4	-	3	591	c.457_splice	c.e3-1	p.D153_splice	ADORA3_ENST00000369717.4_Splice_Site_p.D72_splice	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	278					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.D72A(2)|p.D153A(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACCATGGCATCTGTGAAAac	0.463000													14	139					0	0	0.500413	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:156482498A>G	ENST00000339252.3	-	2	625	c.93T>C	c.(91-93)tcT>tcC	p.S31S	HAVCR1_ENST00000522693.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S|HAVCR1_ENST00000544197.1_Silent_p.S31S|HAVCR1_ENST00000523175.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	31	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468000													14	34					0	0	0.575678	0	0
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:14766512G>C	ENST00000438167.3	-	4	889	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	150					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	p.L150L(1)									GGGGGTAGAAGAGGTACTTTA	0.478000													121	567					0	0	0.870114	0	0
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248813783G>C	ENST00000344889.3	-	1	402	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135V(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCTCATGAGGACAGGATAG	0.552000													67	56					0	0	0.870114	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264475	61264475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61264475G>A	ENST00000344731.5	+	8	1156	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G300S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	352					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.G352S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACCGGCATAGGCTTTACTGT	0.522000													31	111					0	0	0.769981	0	0
TLK1	9874	broad.mit.edu	37	2	171911655	171911655	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:171911655C>T	ENST00000442919.2	-	7	1048	c.433G>A	c.(433-435)Gca>Aca	p.A145T	TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Missense_Mutation_p.A97T|TLK1_ENST00000360843.3_Missense_Mutation_p.A214T|TLK1_ENST00000431350.2_Missense_Mutation_p.A193T|TLK1_ENST00000521943.1_Missense_Mutation_p.A145T	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	193					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A145T(1)|p.A193T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AATGCTAATGCAGTAGGAGAA	0.274000													24	138					0	0	0.796494	0	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							binding|oxidoreductase activity	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000													39	106					0	0	0.840704	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367374	3367374	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:3367374G>C	ENST00000574298.1	+	6	869	c.396G>C	c.(394-396)aaG>aaC	p.K132N	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K132N(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCCAGTGAAGAAAAGAAAGA	0.383000													7	46					0	0	0.278610	0	0
ZNF607	84775	broad.mit.edu	37	19	38190715	38190715	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:38190715C>T	ENST00000355202.4	-	5	912	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF607_ENST00000395835.3_Missense_Mutation_p.R105K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R106K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R106K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTATGAATTCTCTGATGGAG	0.348000													20	135					0	0	0.592651	0	0
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:51261234G>T	ENST00000395542.2	-	3	482	c.298C>A	c.(298-300)Cca>Aca	p.P100T	COBL_ENST00000395540.2_Missense_Mutation_p.P100T|COBL_ENST00000441453.1_Missense_Mutation_p.P100T|COBL_ENST00000265136.7_Missense_Mutation_p.P100T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGGGATGGATTCAGGTGG	0.423000													41	103					2.59344e-38	3.3558e-38	0.870114	1	0
ACOX3	8310	broad.mit.edu	37	4	8418229	8418229	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:8418229C>T	ENST00000356406.5	-	2	97	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G7E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G7E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	7					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G7E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGTGTCGCCTCCTTCCACAGT	0.572000													10	24					0	0	0.361761	0	0
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53045355G>A	ENST00000309680.3	-	1	593	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.S191F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCAATGAAGGAGGCAAATTT	0.483000													15	167					0	0	0.557998	0	0
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50368512G>C	ENST00000322344.3	-	4	479	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	PNKP_ENST00000600910.1_Missense_Mutation_p.L124V|PNKP_ENST00000600573.1_Missense_Mutation_p.L124V|PNKP_ENST00000596014.1_Missense_Mutation_p.L124V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572000								Other BER factors					6	19					0	0	0.248553	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27809297	27809297	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:27809297G>A	ENST00000396319.2	+	5	544	c.456G>A	c.(454-456)ttG>ttA	p.L152L	TAX1BP1_ENST00000265393.6_Silent_p.L152L|TAX1BP1_ENST00000543117.1_Silent_p.L152L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Silent_p.L152L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	152					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.L152L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAGTTGAAAATTGAGA	0.284000													5	22					0	0	0.217242	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735197	55735197	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55735197A>T	ENST00000312345.2	-	1	793	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I248N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAAATAAGTGATAGTACCTGC	0.373000													11	73					0	0	0.435327	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:185801543G>C	ENST00000302277.6	+	4	2014	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474						intracellular	zinc ion binding	p.D474H(2)|p.D474N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAATAATCTAGATAAAAATAA	0.343000													121	95					0	0	0.870114	0	0
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000433365.2_Missense_Mutation_p.S118F|ACP5_ENST00000218758.5_Missense_Mutation_p.S118F|ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572000													24	76					0	0	0.717897	0	0
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:77765894C>A	ENST00000407578.2	-	28	4256	c.3990G>T	c.(3988-3990)tgG>tgT	p.W1330C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.W1292C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W1292C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.W1292C(4)|p.W1330C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCCACATACCACCACCCAG	0.438000													51	101					3.91957e-13	4.47363e-13	0.870114	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94936017C>A	ENST00000337425.5	-	2	289	c.215G>T	c.(214-216)cGc>cTc	p.R72L	SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R54L|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	54					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.R72L(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGGTATAGGCGGAAGGCAAA	0.607000													70	329					2.51111e-31	3.17086e-31	0.870114	1	0
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160164856G>C	ENST00000368079.3	+	4	777	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.E174Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	174						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.E168Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCGTTTGAGAATATTGA	0.493000													142	109					0	0	0.870114	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262101	36262101	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:36262101G>A	ENST00000394571.2	+	4	639	c.639G>A	c.(637-639)atG>atA	p.M213I	PNPLA1_ENST00000312917.5_Missense_Mutation_p.M127I|PNPLA1_ENST00000388715.3_Missense_Mutation_p.M118I	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	213					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTCCGCATGTTCAACTGCT	0.622000													5	141					0	0	0.217242	0	0
ZNF341	84905	broad.mit.edu	37	20	32354772	32354772	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32354772G>A	ENST00000375200.1	+	9	1703	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	ZNF341_ENST00000342427.2_Silent_p.L439L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L439L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCCTACCTGTGCCAATTCT	0.597000													44	367					0	0	0.870114	0	0
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65417286G>T	ENST00000394224.3	+	12	2992	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	SIPA1_ENST00000534313.1_Missense_Mutation_p.R899M|SIPA1_ENST00000394227.3_Missense_Mutation_p.R797M|SIPA1_ENST00000527525.1_Missense_Mutation_p.R797M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	899					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R899M(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCGGAGCTGAGGGCCTCCTTT	0.627000													4	16					0.014758	0.0149057	0.184627	1	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247836167G>T	ENST00000359688.2	-	1	198	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													77	105					2.60632e-51	3.49405e-51	0.870114	1	0
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:26545530A>G	ENST00000377575.2	+	2	273	c.96A>G	c.(94-96)ccA>ccG	p.P32P		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding	p.P32P(2)		lung(2)|skin(1)	3						CTGCTAAACCAGCTCCTCCAA	0.502000													28	33					0	0	0.729181	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42335826G>C	ENST00000262418.6	-	10	1197	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	348					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q348E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCTGGACTGATAGCGCCTT	0.637000													20	145					0	0	0.693898	0	0
ATP1A2	477	broad.mit.edu	37	1	160098582	160098582	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160098582C>A	ENST00000361216.3	+	9	1247	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	ATP1A2_ENST00000392233.3_Silent_p.V386V|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	386					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.V386V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGACCGTCGCCCACATGT	0.597000													36	288					9.14704e-12	1.03151e-11	0.840704	1	0
XAGE5	170627	broad.mit.edu	37	X	52842250	52842250	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:52842250G>T	ENST00000375503.3	+	2	522	c.159G>T	c.(157-159)caG>caT	p.Q53H	XAGE5_ENST00000375501.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000425386.1_Missense_Mutation_p.Q53H|XAGE5_ENST00000351072.1_Missense_Mutation_p.Q53H			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	53								p.Q53H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AAGATGATCAGGGTGCAGCTG	0.532000													21	68					9.57634e-11	1.06883e-10	0.654019	1	0
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:58087249C>A	ENST00000196489.3	-	3	347	c.125G>T	c.(124-126)tGg>tTg	p.W42L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W42L(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGCCCCCATTCTTCCTG	0.537000													140	208					1.324e-77	1.82162e-77	0.870114	1	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													189	586					0	0	0.870114	0	0
RGS9	8787	broad.mit.edu	37	17	63189700	63189700	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:63189700C>T	ENST00000449996.3	+	12	849	c.777C>T	c.(775-777)gcC>gcT	p.A259A	RGS9_ENST00000443584.3_Silent_p.A259A|RGS9_ENST00000262406.9_Silent_p.A262A	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	262	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.A262A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAACGATGCCATCATGTCAG	0.423000													48	223					0	0	0.870114	0	0
ADAM10	102	broad.mit.edu	37	15	58957351	58957351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:58957351G>C	ENST00000260408.3	-	5	973	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	177					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.S177*(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCAAATACTGAATGATCTGC	0.368000													52	242					0	0	0.870114	0	0
DSEL	92126	broad.mit.edu	37	18	65180123	65180123	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:65180123G>A	ENST00000310045.7	-	2	3226	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	575						integral to membrane	isomerase activity|sulfotransferase activity	p.L585F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAATTTAAGAGAAGCAAAGCA	0.403000													10	52					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762558	77762558	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77762558A>C	ENST00000521891.2	+	9	4372	c.3924A>C	c.(3922-3924)acA>acC	p.T1308T	ZFHX4_ENST00000050961.6_Silent_p.T1263T|ZFHX4_ENST00000455469.2_Silent_p.T1263T|ZFHX4_ENST00000518282.1_Silent_p.T1282T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1308T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGGGACACACCTGCAGCCG	0.493000										HNSCC(33;0.089)			10	92					0	0	0.667858	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:34033349G>C	ENST00000373381.4	-	53	8400	c.8224C>G	c.(8224-8226)Cct>Gct	p.P2742A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537000													29	158					0	0	0.740014	0	0
BUB1	699	broad.mit.edu	37	2	111425235	111425235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:111425235G>C	ENST00000535254.1	-	7	675	c.608C>G	c.(607-609)tCa>tGa	p.S203*	BUB1_ENST00000302759.6_Nonsense_Mutation_p.S223*|BUB1_ENST00000409311.1_Nonsense_Mutation_p.S223*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	223					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.S223*(1)|p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCCAAAGATGAGTGCACAGA	0.378000													18	90					0	0	0.624587	0	0
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000438568.2_Missense_Mutation_p.R157K|TARS2_ENST00000369054.2_Missense_Mutation_p.E199K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532000													12	78					0	0	0.457914	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22843099G>C	ENST00000360412.2	-	4	1400	c.625C>G	c.(625-627)Cat>Gat	p.H209D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.H209D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H209D(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTCATTGTATGAAAGGTATCT	0.393000													101	492					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189839268	189839268	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:189839268C>A	ENST00000304636.3	+	1	223	c.53C>A	c.(52-54)cCc>cAc	p.P18H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P18H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	18					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P18H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTTCATCCCACTATTATT	0.408000													41	304					2.48909e-17	2.91874e-17	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77768223C>T	ENST00000521891.2	+	10	9514	c.9066C>T	c.(9064-9066)atC>atT	p.I3022I	ZFHX4_ENST00000050961.6_Silent_p.I2977I|ZFHX4_ENST00000455469.2_Silent_p.I2977I|ZFHX4_ENST00000518282.1_Silent_p.I2996I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2977						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I3006I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGTCCATCAGAGATCACA	0.507000										HNSCC(33;0.089)			34	77					0	0	0.804634	0	0
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:52869406C>T	ENST00000343457.3	-	2	655	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217						integral to membrane		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTGAGGTCCTTGAAGGCT	0.343000													30	49					0	0	0.729181	0	0
CFLAR	8837	broad.mit.edu	37	2	201994633	201994633	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:201994633A>C	ENST00000395148.2	+	2	257	c.45A>C	c.(43-45)acA>acC	p.T15T	CFLAR_ENST00000341222.6_Silent_p.T15T|CFLAR_ENST00000341582.6_Silent_p.T15T|CFLAR_ENST00000342795.5_Silent_p.T15T|CFLAR_ENST00000309955.2_Silent_p.T15T|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000340870.5_Silent_p.T15T|CFLAR_ENST00000440180.1_Silent_p.T15T|CFLAR_ENST00000355558.4_Silent_p.T15T|CFLAR_ENST00000423241.2_Silent_p.T15T|CFLAR_ENST00000457277.1_Silent_p.T15T			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	15	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.T15T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CACTTGATACAGATGAGAAGG	0.478000													55	462					0	0	0.870114	0	0
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150935522C>G	ENST00000271640.5	+	19	3554	c.3364C>G	c.(3364-3366)Cag>Gag	p.Q1122E	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1122E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1122	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q1122E(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTGCTGGTCAGACTTCGGC	0.532000													66	86					0	0	0.870114	0	0
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:69640530A>G	ENST00000370598.1	+	4	1658	c.837A>G	c.(835-837)caA>caG	p.Q279Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q279Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAGGAACAAGCTGATGCTG	0.333000													11	77					0	0	0.479597	0	0
DZANK1	55184	broad.mit.edu	37	20	18445979	18445979	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:18445979G>C	ENST00000262547.5	-	2	232	c.24C>G	c.(22-24)gtC>gtG	p.V8V	DZANK1_ENST00000377630.5_5'UTR|DZANK1_ENST00000329494.5_Silent_p.V8V|DZANK1_ENST00000357236.4_5'UTR	NM_001099407.1	NP_001092877.1	Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	0						intracellular	zinc ion binding	p.V8V(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TGATCTGAGGGACACACACTG	0.373000													5	36					0	0	0.248553	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105419147G>T	ENST00000333244.5	-	7	2760	c.2641C>A	c.(2641-2643)Ctc>Atc	p.L881I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus		p.L881I(2)		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)			TGAATGCTGAGGTCAGTGGCC	0.652000													13	49					1.15088e-07	1.23383e-07	0.500413	1	0
CCDC135	84229	broad.mit.edu	37	16	57732052	57732052	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:57732052C>G	ENST00000360716.3	+	3	412	c.191C>G	c.(190-192)tCa>tGa	p.S64*	CCDC135_ENST00000394337.4_Nonsense_Mutation_p.S64*|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Nonsense_Mutation_p.S64*			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	64						cytoplasm		p.S64*(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATCACTGTCTCAGCGGAGCTC	0.607000													5	27					0	0	0.278610	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334739	142334739	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142334739C>T	ENST00000390394.3	+	0	239																											CGTCAGTTCCCGAAACAGAGT	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	122					0	0	0.870114	0	0
HDAC9	9734	broad.mit.edu	37	7	18631183	18631183	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:18631183C>T	ENST00000406451.3	+	5	601	c.451C>T	c.(451-453)Cta>Tta	p.L151L	HDAC9_ENST00000441542.2_Silent_p.L154L|HDAC9_ENST00000428307.2_Silent_p.L151L|HDAC9_ENST00000417496.2_Silent_p.L193L|HDAC9_ENST00000524023.1_Silent_p.L120L|HDAC9_ENST00000405010.3_Silent_p.L151L|HDAC9_ENST00000456174.2_Silent_p.L123L|HDAC9_ENST00000432645.2_Silent_p.L151L|HDAC9_ENST00000406072.1_Silent_p.L182L|HDAC9_ENST00000401921.1_Silent_p.L154L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	151	Interaction with MEF2 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.L154L(2)|p.L193L(1)|p.L151L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCAAGAGTTCCTACTGAGTAA	0.453000													4	55					0	0	0.150653	0	0
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18316688C>T	ENST00000396253.3	-	13	1783	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HPS5_ENST00000349215.3_Missense_Mutation_p.E555K|HPS5_ENST00000438420.2_Missense_Mutation_p.E441K|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	555						cytosol		p.E555K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAATCTTCTCAGTAGTTTTA	0.398000									Hermansky-Pudlak syndrome				13	95					0	0	0.457914	0	0
KAT6A	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:41834584C>T	ENST00000396930.3	-	8	1848	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KAT6A_ENST00000265713.2_Silent_p.E435E|KAT6A_ENST00000406337.1_Silent_p.E435E|KAT6A_ENST00000485568.1_Silent_p.E435E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	435	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.E435E(2)									TTCGATATTGCTCAGAGTAGT	0.448000													52	114					0	0	0.870114	0	0
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:113719264C>T	ENST00000397030.1	+	7	757	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000375608.3_Silent_p.F237F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577000													24	59					0	0	0.717897	0	0
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:26917884C>G	ENST00000539517.2	-	5	1122	c.805G>C	c.(805-807)Gga>Cga	p.G269R	NOVA1_ENST00000465357.2_Missense_Mutation_p.G245R|NOVA1_ENST00000267422.7_Missense_Mutation_p.G147R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G269R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAAGGAGATCCGGTTGGATTG	0.483000													41	171					0	0	0.859065	0	0
FCRL5	83416	broad.mit.edu	37	1	157491004	157491004	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:157491004C>T	ENST00000361835.3	-	11	2475	c.2318G>A	c.(2317-2319)tGt>tAt	p.C773Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.C773Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	773	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.C773Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGGCCTCACAGTGAAGCTC	0.582000													15	77					0	0	0.500413	0	0
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:249144947C>A	ENST00000451251.1	-	11	1547	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	ZNF692_ENST00000427146.1_Missense_Mutation_p.R351L|ZNF692_ENST00000366471.3_Missense_Mutation_p.R351L|ZNF692_ENST00000306601.4_Missense_Mutation_p.R396L|ZNF692_ENST00000366469.5_Missense_Mutation_p.R395L	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	396				S -> G (in Ref. 1; BAA91239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R396L(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGAAAGACCGGGCGCAGAA	0.622000													13	78					2.37509e-13	2.71302e-13	0.592651	1	0
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:72734212C>T	ENST00000333149.2	-	3	629	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TRIM50_ENST00000453152.1_Silent_p.L143L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	143						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	p.L143L(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTCCTGCTTCAGCTCAGAGA	0.597000													24	151					0	0	0.706142	0	0
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:47882444G>T	ENST00000335071.2	+	1	701	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721000													4	32					8.12818e-05	8.42018e-05	0.248553	1	0
DUSP22	56940	broad.mit.edu	37	6	348851	348851	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:348851A>T	ENST00000604971.1	+	4	1322	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DUSP22_ENST00000605315.1_Missense_Mutation_p.K70M|DUSP22_ENST00000603453.1_Missense_Mutation_p.K70M|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.K173M|DUSP22_ENST00000344450.5_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTAAATATAAGGAGCAAGGG	0.537000													7	48					0	0	0.307466	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:96706570C>G	ENST00000389672.5	+	3	885	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q283E|EPHA6_ENST00000542517.1_Missense_Mutation_p.Q189E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000													476	427					0	0	0.870114	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:32103262C>A	ENST00000375250.5	-	12	1910	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E587*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E582*|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E587*(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTATCTCCTCTTCAATTCCT	0.363000													83	301					3.86339e-31	4.8654e-31	0.870114	1	0
RRBP1	6238	broad.mit.edu	37	20	17600972	17600972	+	Missense_Mutation	SNP	A	A	C	rs144392530	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:17600972A>C	ENST00000377813.1	-	18	3854	c.3551T>G	c.(3550-3552)cTa>cGa	p.L1184R	RRBP1_ENST00000360807.4_Missense_Mutation_p.L751R|RRBP1_ENST00000377807.2_Missense_Mutation_p.L751R|RRBP1_ENST00000246043.4_Missense_Mutation_p.L1184R|RRBP1_ENST00000455029.2_Missense_Mutation_p.L525R			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1184					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.L751R(1)|p.L1184R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTCTCCTTTTAGCTTCTCTAC	0.517000													6	89					0	0	0.278610	0	0
CXCL12	6387	broad.mit.edu	37	10	44873293	44873293	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:44873293G>C	ENST00000395794.2	-	4	370	c.327C>G	c.(325-327)ccC>ccG	p.P109P	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000343575.6_3'UTR	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P109P(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TGGGAGGAGAGGGATGCAGGG	0.602000													3	14					0	0	0.115264	0	0
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:103870845C>A	ENST00000361198.5	-	4	745	c.122G>T	c.(121-123)cGg>cTg	p.R41L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000425280.1_Missense_Mutation_p.R77L	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R77L(2)|p.R41L(2)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTCTGAAGCCGTTTGTTAAG	0.532000													18	82					0.000958276	0.000985476	0.557998	1	0
LOC440040	440040	broad.mit.edu	37	11	49830147	49830147	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:49830147G>T	ENST00000527477.1	+	0	1478																											TCAGTGCAGGGCCCATCACTG	0.483000													4	27					1.024e-07	1.10199e-07	0.184627	1	0
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:30918542G>T	ENST00000375318.2	-	1	149	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31G(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GATTCCTGGTGCCTGCCGCAG	0.517000													44	95					3.21987e-24	3.91539e-24	0.870114	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858701	149858701	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:149858701G>C	ENST00000331380.2	+	1	177	c.177G>C	c.(175-177)ctG>ctC	p.L59L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	59					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGAGTACCTGACCGCCGAGA	0.687000													9	61					0	0	0.500413	0	0
COL24A1	255631	broad.mit.edu	37	1	86554869	86554869	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86554869C>A	ENST00000370571.2	-	7	2061	c.1695G>T	c.(1693-1695)atG>atT	p.M565I	COL24A1_ENST00000436319.1_Missense_Mutation_p.M565I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	565	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.M565_Q566>IK(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATCACCTTGCATACCAGGGG	0.333000													19	109					3.08376e-08	3.33386e-08	0.654019	1	0
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:14563219G>C	ENST00000181796.2	-	5	1124	c.891C>G	c.(889-891)ggC>ggG	p.G297G	FAM107B_ENST00000468747.1_Silent_p.G122G|FAM107B_ENST00000378470.1_Silent_p.G122G|FAM107B_ENST00000478076.1_Silent_p.G122G|FAM107B_ENST00000496330.1_Silent_p.G122G|FAM107B_ENST00000378458.2_Silent_p.G122G|FAM107B_ENST00000479731.1_Silent_p.G122G|FAM107B_ENST00000378467.4_Silent_p.G122G|FAM107B_ENST00000378465.3_Silent_p.G122G|FAM107B_ENST00000378462.1_Silent_p.G122G	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	122								p.G297G(2)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGACTTCTTGGCCTGTTCTCC	0.517000													117	230					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358000													134	650					0	0	0.870114	0	0
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:108307757C>T	ENST00000370056.4	-	9	1136	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	VAV3_ENST00000371846.4_Missense_Mutation_p.A223T|VAV3_ENST00000527011.1_Missense_Mutation_p.A288T|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	288	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A288T(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTAGAGATGGCTGACTCCACT	0.358000													35	108					0	0	0.864702	0	0
SIRT1	23411	broad.mit.edu	37	10	69651262	69651262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:69651262G>C	ENST00000212015.6	+	4	945	c.892G>C	c.(892-894)Gat>Cat	p.D298H	SIRT1_ENST00000432464.1_Missense_Mutation_p.D3H|SIRT1_ENST00000406900.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	298	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	p.D298H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCGATGTTTGATATTGAATA	0.403000													44	242					0	0	0.870114	0	0
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:51392312G>A	ENST00000266037.9	+	41	4130		c.e41-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.?(4)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTTGTGGCAGAACAAAGAAT	0.527000													64	256					0	0	0.870114	0	0
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:244716037G>A	ENST00000366534.4	+	9	1004	c.950G>A	c.(949-951)gGa>gAa	p.G317E	C1orf101_ENST00000366533.4_Missense_Mutation_p.G317E|C1orf101_ENST00000366531.3_Missense_Mutation_p.G166E|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	317						integral to membrane		p.G317E(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATAAGACTGGGAGGAATTGTA	0.343000													272	405					0	0	0.870114	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152059275T>C	ENST00000368806.1	-	3	947	c.883A>G	c.(883-885)Aga>Gga	p.R295G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding	p.R295G(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCTTCTCTTTGTAGGGGT	0.443000													334	280					0	0	0.870114	0	0
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55993190C>T	ENST00000598519.1	+	3	1183	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF628_ENST00000391718.2_Silent_p.P206P	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	206						nucleus	DNA binding|zinc ion binding	p.P206P(4)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGCTCTGCCCCAAGACCTTCA	0.741000													5	2					0	0	0.217242	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:52017224A>G	ENST00000267838.3	-	2	882	c.368T>C	c.(367-369)tTg>tCg	p.L123S	LYSMD2_ENST00000558126.1_Intron|LYSMD2_ENST00000454181.2_Missense_Mutation_p.L32S|LYSMD2_ENST00000560491.1_Missense_Mutation_p.L32S	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	123					cell wall macromolecule catabolic process			p.L123S(2)		lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		ATTAAACAACAAAGGCTTCTC	0.383000													35	68					0	0	0.847076	0	0
ERCC6	2074	broad.mit.edu	37	10	50679084	50679084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:50679084C>G	ENST00000355832.5	-	17	3085	c.3007G>C	c.(3007-3009)Gag>Cag	p.E1003Q	ERCC6_ENST00000542458.1_Missense_Mutation_p.E373Q|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1003					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.E1003Q(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTAAATAGCTCATAGAGATCA	0.313000								Direct reversal of damage;Nucleotide excision repair (NER)					40	246					0	0	0.847076	0	0
VPS13B	157680	broad.mit.edu	37	8	100514053	100514053	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:100514053C>T	ENST00000395996.1	+	26	4120	c.4009C>T	c.(4009-4011)Ctc>Ttc	p.L1337F	VPS13B_ENST00000358544.2_Missense_Mutation_p.L1337F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1337F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1337					protein transport			p.L1337F(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTATAAAGCTCTTTGCTCC	0.473000													32	255					0	0	0.796494	0	0
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:21760782T>C	ENST00000382254.1	-	13	2604	c.1518A>G	c.(1516-1518)atA>atG	p.I506M	CDH12_ENST00000522262.1_Missense_Mutation_p.I466M|CDH12_ENST00000504376.2_Missense_Mutation_p.I506M|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I506M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTATCTGAATTATCTGCAACA	0.403000										HNSCC(59;0.17)			64	254					0	0	0.870114	0	0
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:89131063T>A	ENST00000286614.6	-	5	1018	c.737A>T	c.(736-738)cAt>cTt	p.H246L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	246					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H246L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCCAGTTCATGGACTGCTAC	0.383000													79	89					0	0	0.870114	0	0
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:4116637G>C	ENST00000404826.2	+	21	3157	c.3018G>C	c.(3016-3018)caG>caC	p.Q1006H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1006H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1006	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGCTATCAGATCTCTTGGG	0.542000													6	55					0	0	0.278610	0	0
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198953721C>T	ENST00000428675.1	+	3	3253	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P854L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	952					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P854L(2)|p.P952L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAGCTTTCCTTACCTGGAG	0.453000													398	473					0	0	0.870114	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000													38	217					0	0	0.819951	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117954	34117954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:34117954C>A	ENST00000331923.4	-	12	2188	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.E667*	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.E667*(1)									TCATCTTTTTCTTGCTCTCGT	0.378000													74	268					6.20368e-34	7.93285e-34	0.870114	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:46032130G>T	ENST00000334662.2	+	1	135	c.113G>T	c.(112-114)gGc>gTc	p.G38V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.G38V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTGCACTGGCTCCTCCTGG	0.637000													34	49					3.38236e-24	4.10943e-24	0.827153	1	0
SLC9C2	284525	broad.mit.edu	37	1	173567171	173567171	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:173567171C>A	ENST00000367714.3	-	4	651	c.228_splice	c.e4-1	p.V77_splice	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	77					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V77L(1)									ATTTGGTGCACCTAAAGTAAC	0.299000													23	117					7.01153e-11	7.83186e-11	0.717897	1	0
GJB4	127534	broad.mit.edu	37	1	35227416	35227416	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:35227416C>G	ENST00000339480.1	+	2	931	c.561C>G	c.(559-561)acC>acG	p.T187T	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	187					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.T187T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGTCTTCACCTACTTCATGG	0.587000													8	131					0	0	0.278610	0	0
TCL6	27004	broad.mit.edu	37	14	96135898	96135898	+	RNA	SNP	A	A	T	rs76461999		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96135898A>T	ENST00000467865.1	+	0	1832				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttagaagcaaggcacaagtc	0.512000			T	TRA@	T-ALL								12	111					0	0	0.479597	0	0
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:11485703T>A	ENST00000423059.3	-	13	3300	c.3049A>T	c.(3049-3051)Aga>Tga	p.R1017*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10.					integral to membrane		p.R1017*(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTTACATCTAGATGTTTCC	0.428000										HNSCC(18;0.044)			299	624					0	0	0.870114	0	0
OR5I1	10798	broad.mit.edu	37	11	55703085	55703085	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55703085G>A	ENST00000301532.3	-	1	791	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAGGTAGCTGGGCCGTGAGT	0.423000													10	68					0	0	0.387290	0	0
YPEL2	388403	broad.mit.edu	37	17	57430790	57430790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57430790C>G	ENST00000312655.4	+	2	338	c.20C>G	c.(19-21)tCg>tGg	p.S7W	YPEL2_ENST00000581865.1_Intron|YPEL2_ENST00000585166.1_Missense_Mutation_p.S7W	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	7						nucleolus		p.S7W(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGACAAGATCGAAGACTTTC	0.547000													48	259					0	0	0.870114	0	0
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:14131775A>T	ENST00000379153.3	+	3	349	c.178A>T	c.(178-180)Atg>Ttg	p.M60L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	60	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane		p.M60L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGAAGAGAGGATGGAGACACC	0.507000													32	39					0	0	0.819951	0	0
FRAS1	80144	broad.mit.edu	37	4	79399136	79399136	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:79399136A>C	ENST00000264895.6	+	55	8459	c.8019A>C	c.(8017-8019)gaA>gaC	p.E2673D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2668	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.E2674D(1)|p.E2673D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGAGGATGAACCCACATTAG	0.458000													12	50					0	0	0.457914	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:39086866C>A	ENST00000400482.3	-	3	1183	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.K198N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	198					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.K198N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCTGCCCTCTTCTTGGGTT	0.483000													13	35					9.16793e-09	1.00033e-08	0.520397	1	0
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:125315507G>C	ENST00000373688.2	+	1	117	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AAACCAGGCAGAGTGAACCAA	0.448000													58	213					0	0	0.870114	0	0
LTN1	26046	broad.mit.edu	37	21	30304987	30304987	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:30304987C>A	ENST00000361371.4	-	28	5026		c.e28-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGCTTTAACCTGCAATACAA	0.343000													45	185					4.88482e-21	5.85433e-21	0.870114	1	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)			79	547					0	0	0.870114	0	0
EVPLL	645027	broad.mit.edu	37	17	18284947	18284947	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:18284947G>A	ENST00000399134.4	+	4	607	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	83								p.Q83Q(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGTGACCCAGGAGTGTGCGG	0.657000													6	6					0	0	0.217242	0	0
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:75902715C>A	ENST00000322563.3	-	4	907	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	261					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.K261N(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TATCCAGGTCCTTGGGCACCA	0.597000													14	29					4.14922e-12	4.69028e-12	0.500413	1	0
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:31016158C>A	ENST00000375687.4	+	6	828	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.S130Y|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	135					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S135Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGAACGCATCCTGTTCTACA	0.493000			"""F, N, Mis"""		"""MDS, CMML"""								36	411					1.17962e-10	1.31555e-10	0.840704	1	0
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:3685153G>T	ENST00000403096.3	+	3	646	c.155G>T	c.(154-156)aGt>aTt	p.S52I	COLEC11_ENST00000402794.1_Missense_Mutation_p.S28I|COLEC11_ENST00000349077.4_Missense_Mutation_p.S78I|COLEC11_ENST00000236693.7_Missense_Mutation_p.S75I|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.S92I|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000382062.2_Intron	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	78						collagen	mannose binding	p.S92I(2)|p.S75I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGAAAGGCAGTGTGGGTCGT	0.512000													33	45					4.32679e-17	5.05687e-17	0.827153	1	0
ZNF165	7718	broad.mit.edu	37	6	28056879	28056879	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:28056879G>A	ENST00000377325.1	+	4	1645	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	363					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q363Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGGCATCAGAGAATCCACA	0.433000													12	70					0	0	0.479597	0	0
ADNP2	22850	broad.mit.edu	37	18	77894747	77894747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:77894747C>G	ENST00000262198.4	+	4	1906	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	484					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S484*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGGTCCAGTCAGGAGTTCTC	0.607000													4	30					0	0	0.184627	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92715222C>A	ENST00000257068.2	+	2	839	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCCATCAACCCCCAAGAAATG	0.512000													73	150					9.31514e-26	1.14455e-25	0.870114	1	0
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155215184T>A	ENST00000460012.1	-	15	2086	c.1729A>T	c.(1729-1731)Atg>Ttg	p.M577L	PLCH1_ENST00000334686.6_Missense_Mutation_p.M577L|PLCH1_ENST00000494598.1_Missense_Mutation_p.M595L|PLCH1_ENST00000414191.1_Missense_Mutation_p.M577L|PLCH1_ENST00000447496.2_Missense_Mutation_p.M595L|PLCH1_ENST00000340059.7_Missense_Mutation_p.M595L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M595L(2)|p.M577L(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGCTTCATGGTTTTCCTT	0.473000													50	148					0	0	0.870114	0	0
NYAP2	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:226273676G>C	ENST00000272907.6	+	2	493	c.80G>C	c.(79-81)gGg>gCg	p.G27A	NYAP2_ENST00000409269.2_Missense_Mutation_p.G27A	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	27								p.G27A(2)									GAGGATATGGGGATGAAGGCC	0.428000													192	256					0	0	0.870114	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52719320G>T	ENST00000322088.6	+	8	1044	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C274F|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.C150F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	329	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.C329F(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATCTTGCCCTGCATCAAGGTA	0.532000			Mis		clear cell ovarian carcinoma								20	101					7.87624e-14	9.02606e-14	0.639603	1	0
OSBPL8	114882	broad.mit.edu	37	12	76793690	76793690	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:76793690G>C	ENST00000261183.3	-	7	910	c.431C>G	c.(430-432)aCa>aGa	p.T144R	OSBPL8_ENST00000393250.4_Missense_Mutation_p.T102R|OSBPL8_ENST00000393249.2_Missense_Mutation_p.T102R	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	144					lipid transport		lipid binding	p.T144R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGAAGGATCTGTGATTGTACT	0.343000													11	105					0	0	0.500413	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:127651448C>A	ENST00000373555.4	-	18	2068	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	579						Golgi cisterna membrane		p.E579*(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGAGTGCTTCGGCCTGCAAT	0.657000													110	160					2.35673e-48	3.14157e-48	0.870114	1	0
NELFCD	51497	broad.mit.edu	37	20	57569177	57569177	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:57569177A>G	ENST00000602795.1	+	14	1696	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	NELFCD_ENST00000344018.3_Missense_Mutation_p.I541V|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D									p.I541V(1)									GCTGGACGTCATTGCTCCTCC	0.557000													16	139					0	0	0.520397	0	0
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428000													50	252					6.3091e-27	7.78582e-27	0.870114	1	0
SYT4	6860	broad.mit.edu	37	18	40851705	40851705	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:40851705C>A	ENST00000255224.3	-	3	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	SYT4_ENST00000590752.1_Silent_p.L296L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.L314L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATTTAGGCAGATGTCGAG	0.428000													56	205					3.40165e-17	3.98552e-17	0.870114	1	0
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62519745G>A	ENST00000394807.3	-	2	1667	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D514D(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGCGGTAGAGGTCCCCTGACT	0.602000													18	44					0	0	0.667858	0	0
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50945490C>A	ENST00000357701.5	+	9	873	c.822C>A	c.(820-822)atC>atA	p.I274I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I274I(2)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAACAAGATCAAGTTGATGG	0.522000													3	14					0.004672	0.00474589	0.115264	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:46066935C>A	ENST00000334670.8	+	1	605	c.560C>A	c.(559-561)gCc>gAc	p.A187D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	181	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.A187D(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TACCAGCAGGCCTGCTGCGTG	0.602000													112	200					9.26604e-42	1.21681e-41	0.870114	1	0
FAM71A	149647	broad.mit.edu	37	1	212798989	212798989	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:212798989C>T	ENST00000294829.3	+	1	1201	c.770C>T	c.(769-771)gCa>gTa	p.A257V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	257								p.A257V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCTCAATGCATCCATCCCC	0.552000													46	326					0	0	0.870114	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051794	198051794	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198051794C>G	ENST00000282272.8	-	1	39	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ANKRD44_ENST00000409919.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	22							protein binding	p.E22Q(4)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGATCTCCTCTGGATCACCG	0.443000													112	346					0	0	0.870114	0	0
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:2535350C>T	ENST00000288709.6	-	11	1227	c.987G>A	c.(985-987)gaG>gaA	p.E329E	MMEL1_ENST00000378412.3_Silent_p.E338E|MMEL1_ENST00000502556.1_Silent_p.E181E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.E329E(2)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTGCAGCTCCTCCAGTCCCA	0.662000													3	32					0	0	0.115264	0	0
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124398361G>A	ENST00000360013.3	+	51	7501	c.7374G>A	c.(7372-7374)atG>atA	p.M2458I	KALRN_ENST00000462213.1_Missense_Mutation_p.M75I|KALRN_ENST00000291478.4_Missense_Mutation_p.M761I|KALRN_ENST00000428018.2_Missense_Mutation_p.M729I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2457				E -> G (in Ref. 2; BAA76314).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M761I(1)|p.M2458I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACTAGCATGGAGGTAGAAG	0.428000													78	328					0	0	0.870114	0	0
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:21036154G>A	ENST00000247986.2	-	4	958	c.648C>T	c.(646-648)atC>atT	p.I216I	KIF17_ENST00000375044.1_Silent_p.I116I|KIF17_ENST00000400463.3_Silent_p.I216I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	216	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I216I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCGATGCTGATGGTGAAGA	0.597000													15	46					0	0	0.539581	0	0
DNM3	26052	broad.mit.edu	37	1	172277965	172277965	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:172277965C>G	ENST00000358155.4	+	16	2043	c.1867C>G	c.(1867-1869)Cct>Gct	p.P623A	DNM3_ENST00000367731.1_Missense_Mutation_p.P623A|DNM3_ENST00000520906.1_Missense_Mutation_p.P623A|DNM3_ENST00000355305.5_Missense_Mutation_p.P633A	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	633					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.P623A(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGGGTCTATCCTGACAAATC	0.388000													26	176					0	0	0.706142	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:108609503G>A	ENST00000264047.2	+	4	644	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G18E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G123E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	123					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G123E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAATCTATGGAAAACGCATG	0.448000													22	132					0	0	0.681144	0	0
VAMP7	6845	broad.mit.edu	37	X	155130184	155130184	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:155130184C>A	ENST00000286448.6	+	5	531	c.366C>A	c.(364-366)ggC>ggA	p.G122G	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Silent_p.G122G|VAMP7_ENST00000460621.1_Silent_p.G81G	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	122					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.G122G(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAATAAGGGCCTAGACAAAG	0.368000													7	55					0.000673444	0.000693064	0.361761	1	0
NEB	4703	broad.mit.edu	37	2	152541404	152541404	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:152541404G>C	ENST00000397345.3	-	28	2925	c.2723C>G	c.(2722-2724)tCt>tGt	p.S908C	NEB_ENST00000409198.1_Missense_Mutation_p.S908C|NEB_ENST00000172853.10_Missense_Mutation_p.S908C|NEB_ENST00000604864.1_Missense_Mutation_p.S908C|NEB_ENST00000427231.2_Missense_Mutation_p.S908C|NEB_ENST00000603639.1_Missense_Mutation_p.S908C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	908					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.S908C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATTGCCTGAGATTTCTTAGC	0.428000													27	115					0	0	0.729181	0	0
PLCL2	23228	broad.mit.edu	37	3	17053070	17053070	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:17053070A>T	ENST00000418129.2	+	2	2319	c.1854A>T	c.(1852-1854)acA>acT	p.T618T	PLCL2_ENST00000432376.1_Silent_p.T618T|PLCL2_ENST00000396755.2_Silent_p.T618T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	744	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T618T(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCGCCAATACAAAAGACTCTG	0.507000													19	63					0	0	0.575678	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:33947350C>T	ENST00000382102.3	-	6	1343	c.1286G>A	c.(1285-1287)aGc>aAc	p.S429N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.S370N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S429N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	429					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.S429N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCAAACAGGCTGCACAGGAC	0.507000													89	248					0	0	0.870114	0	0
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:57346020T>A	ENST00000398138.3	-	4	1603	c.747A>T	c.(745-747)tcA>tcT	p.S249S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	249					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.S249S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTTGTTCAGCTGATTTCTTAT	0.468000													25	45					0	0	0.693898	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30784777C>G	ENST00000246229.4	-	3	1233	c.969G>C	c.(967-969)atG>atC	p.M323I		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M323I(2)		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)			GAGGGTAGCTCATACCCATGG	0.567000													56	311					0	0	0.870114	0	0
RIN2	54453	broad.mit.edu	37	20	19955398	19955398	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:19955398C>G	ENST00000255006.6	+	8	1025	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	243					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.L292L(1)|p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCGTCAGCTCTGCCTTATAA	0.552000													4	45					0	0	0.150653	0	0
MTG2	26164	broad.mit.edu	37	20	60775751	60775751	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:60775751C>T	ENST00000370823.3	+	7	857	c.839C>T	c.(838-840)cCc>cTc	p.P280L	MTG2_ENST00000536470.1_Missense_Mutation_p.P52L|MTG2_ENST00000436421.2_Missense_Mutation_p.P122L	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.P280F(1)									GCCGACATCCCCGGCATCATA	0.632000													10	47					0	0	0.624587	0	0
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:33734940G>T	ENST00000358232.6	+	12	1316	c.1253G>T	c.(1252-1254)tGg>tTg	p.W418L	ELP2_ENST00000542824.1_Missense_Mutation_p.W348L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Missense_Mutation_p.W348L|ELP2_ENST00000442325.2_Missense_Mutation_p.W483L|ELP2_ENST00000351393.6_Missense_Mutation_p.W392L|ELP2_ENST00000350494.6_Missense_Mutation_p.W413L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	418					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.W418L(2)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTGCTCCATGGAAGAGAAAA	0.398000													32	87					1.15505e-17	1.36234e-17	0.847076	1	0
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124431933C>T	ENST00000360013.3	+	58	8354	c.8227C>T	c.(8227-8229)Ctc>Ttc	p.L2743F	KALRN_ENST00000291478.4_Missense_Mutation_p.L1046F|KALRN_ENST00000428018.2_Missense_Mutation_p.L1014F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2742	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2743F(2)|p.L1046F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACATCACTCTCCATGACAC	0.488000													36	128					0	0	0.864702	0	0
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42621437C>A	ENST00000389341.5	-	5	334	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Missense_Mutation_p.A90S|POU2F2_ENST00000342301.4_Missense_Mutation_p.A90S|POU2F2_ENST00000560398.1_Missense_Mutation_p.A112S|POU2F2_ENST00000533720.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529952.1_Missense_Mutation_p.A90S|POU2F2_ENST00000526816.2_Missense_Mutation_p.A90S|POU2F2_ENST00000524801.2_5'UTR	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	90					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A90S(4)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				ATGAGTTGGGCCTGGGGCAGA	0.642000													37	105					1.30998e-17	1.54379e-17	0.812448	1	0
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184801039G>C	ENST00000335012.2	-	2	699	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	170								p.S170*(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GCTCTCTTTTGAAATTAAGGC	0.463000													85	197					0	0	0.870114	0	0
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53451395T>C	ENST00000314250.6	+	12	1180	c.890T>C	c.(889-891)aTg>aCg	p.M297T	TENC1_ENST00000552570.1_Missense_Mutation_p.M297T|TENC1_ENST00000546602.1_Missense_Mutation_p.M297T|TENC1_ENST00000451358.1_Missense_Mutation_p.M297T|TENC1_ENST00000549700.1_Missense_Mutation_p.M297T|TENC1_ENST00000379902.3_Missense_Mutation_p.M173T|TENC1_ENST00000314276.3_Missense_Mutation_p.M307T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	297					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.M307T(2)|p.M297T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCATCAGAATGAACAGCAGC	0.537000													66	76					0	0	0.870114	0	0
CXCL11	6373	broad.mit.edu	37	4	76955971	76955971	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:76955971T>A	ENST00000306621.3	-	4	471		c.e4-2		ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Splice_Site	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11						cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity	p.?(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCAACTTTCTGGAATAAGAA	0.338000													5	10					0	0	0.248553	0	0
ADAM12	8038	broad.mit.edu	37	10	127782626	127782626	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:127782626T>A	ENST00000368679.4	-	11	1391	c.1082A>T	c.(1081-1083)gAc>gTc	p.D361V	ADAM12_ENST00000368676.4_Missense_Mutation_p.D361V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	361	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.D361V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCAGTGTGTCATGATTCAT	0.517000													46	142					0	0	0.870114	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101436271	101436271	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:101436271C>G	ENST00000554693.2	+	0	299				SNORD114-13_ENST00000364377.1_RNA																							CACCATGTTTCTAGAACTCTG	0.423000													19	98					0	0	0.667858	0	0
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:129996686G>A	ENST00000263574.5	+	8	1254	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	APLP2_ENST00000338167.5_Silent_p.K394K|APLP2_ENST00000528499.1_Silent_p.K338K|APLP2_ENST00000345598.5_Silent_p.K165K|APLP2_ENST00000278756.7_Silent_p.K404K|APLP2_ENST00000543137.1_Silent_p.K301K|APLP2_ENST00000539648.1_Silent_p.K182K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.K394K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGAAGGCTAAGGAGCAGCTGG	0.468000													119	340					0	0	0.870114	0	0
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:145537160C>A	ENST00000394434.2	-	10	1037	c.871G>T	c.(871-873)Gct>Tct	p.A291S	LARS_ENST00000274562.9_Missense_Mutation_p.A264S|LARS_ENST00000545646.1_Missense_Mutation_p.A245S|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Missense_Mutation_p.A237S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.A291S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGAGTAGCAGCCACCAAGAAA	0.373000													11	69					1.58986e-06	1.6815e-06	0.361761	1	0
NBEA	26960	broad.mit.edu	37	13	35624523	35624523	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:35624523A>T	ENST00000540320.1	+	6	1497	c.963A>T	c.(961-963)caA>caT	p.Q321H	NBEA_ENST00000379939.2_Missense_Mutation_p.Q321H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q321H|NBEA_ENST00000400445.3_Missense_Mutation_p.Q321H			Q8NFP9	NBEA_HUMAN	neurobeachin	321						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q321H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGATTTTCAACCACGCAAGG	0.353000													22	47					0	0	0.667858	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806813	27806813	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:27806813C>T	ENST00000606613.1	+	1	435	c.374C>T	c.(373-375)tCc>tTc	p.S125F	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.S125F			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	125					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S125F(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TACACCAGTTCCAAGTGAGCC	0.637000													4	32					0	0	0.278610	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:75014929C>G	ENST00000379727.3	-	2	708	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CYP1A1_ENST00000395049.4_Silent_p.L170L|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.L170L|CYP1A1_ENST00000395048.2_Silent_p.L170L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	170					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.L170L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGTGCTTATCAGGACCTCAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				12	61					0	0	0.435327	0	0
FBN1	2200	broad.mit.edu	37	15	48712914	48712914	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:48712914G>A	ENST00000316623.5	-	63	8244	c.7789C>T	c.(7789-7791)Ctc>Ttc	p.L2597F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2597	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.L2597F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTGCTGGAGGTAGCCCTGG	0.527000													31	166					0	0	0.812448	0	0
RPRD1B	58490	broad.mit.edu	37	20	36694555	36694555	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36694555G>T	ENST00000373433.4	+	6	1130	c.728G>T	c.(727-729)cGc>cTc	p.R243L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	243								p.R243L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATAACGGGCGCCTGGCAGCA	0.448000													43	194					5.73376e-24	6.95433e-24	0.870114	1	0
EIF5B	9669	broad.mit.edu	37	2	99985017	99985017	+	Missense_Mutation	SNP	G	G	C	rs3205291		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:99985017G>C	ENST00000289371.5	+	7	1552	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	450					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		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						AAGATAAAAAGAGGAAAAAAA	0.353000													21	66					0	0	0.681144	0	0
TTN	7273	broad.mit.edu	37	2	179496937	179496937	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179496937C>A	ENST00000589042.1	-	236	43908	c.43684G>T	c.(43684-43686)Gac>Tac	p.D14562Y	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D5497Y|TTN_ENST00000342992.6_Missense_Mutation_p.D11994Y|TTN_ENST00000591111.1_Missense_Mutation_p.D12921Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5622Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5689Y|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12921	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D11994Y(2)|p.D5622Y(1)|p.D5497Y(1)|p.D5689Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGGTGTCATCAATAGAC	0.408000													5	47					0.0293803	0.0295687	0.248553	1	0
TRPC4	7223	broad.mit.edu	37	13	38266380	38266380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:38266380C>A	ENST00000379705.3	-	4	1847	c.990G>T	c.(988-990)atG>atT	p.M330I	TRPC4_ENST00000379679.1_Missense_Mutation_p.M157I|TRPC4_ENST00000338947.5_Missense_Mutation_p.M157I|TRPC4_ENST00000379673.2_Missense_Mutation_p.M330I|TRPC4_ENST00000447043.1_Missense_Mutation_p.M330I|TRPC4_ENST00000426868.2_Missense_Mutation_p.M330I|TRPC4_ENST00000358477.2_Missense_Mutation_p.M330I|TRPC4_ENST00000355779.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379681.3_Missense_Mutation_p.M330I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	330					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.M330I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACATGTCACCATCTTCACTG	0.478000													23	149					3.83957e-06	4.03669e-06	0.639603	1	0
FPR2	2358	broad.mit.edu	37	19	52272003	52272003	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52272003T>A	ENST00000598776.1	+	2	864	c.92T>A	c.(91-93)gTg>gAg	p.V31E	FPR2_ENST00000340023.6_Missense_Mutation_p.V31E|FPR2_ENST00000598953.1_Missense_Mutation_p.V31E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	31					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V31E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCATTGGTGGTGCTTGGG	0.537000													65	261					0	0	0.870114	0	0
TENM1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:123556156G>A	ENST00000422452.2	-	24	4500	c.4437C>T	c.(4435-4437)gaC>gaT	p.D1479D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.D1472D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1474D(2)									CAATTTTGCAGTCACAGTCAG	0.448000													59	153					0	0	0.870114	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219942919C>T	ENST00000356853.5	-	6	731	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Missense_Mutation_p.E200K	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	p.E200K(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTGCATGCCTCTGGCAGTTTC	0.478000								Non-homologous end-joining					102	129					0	0	0.870114	0	0
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:33292344C>G	ENST00000373475.5	+	3	898	c.644C>G	c.(643-645)tCa>tGa	p.S215*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.S215*|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.S215*	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	215						nucleus	calcium-dependent protein binding	p.S215*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCTCTTCTTCAAACAATAAC	0.443000													98	183					0	0	0.870114	0	0
COL4A6	1288	broad.mit.edu	37	X	107554022	107554022	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107554022C>A	ENST00000394872.2	-	3	331	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	COL4A6_ENST00000372216.4_Missense_Mutation_p.D35Y|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000538570.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D34Y			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	35	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCACTGCAGTCCTGGCCCCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				115	295					4.00201e-40	5.21664e-40	0.870114	1	0
PLCB1	23236	broad.mit.edu	37	20	8745806	8745806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:8745806G>A	ENST00000378641.3	+	26	3206	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E911K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E911K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	911					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E911K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGACCATCGAAGAACTAAA	0.418000													6	65					0	0	0.307466	0	0
LRRC31	79782	broad.mit.edu	37	3	169579498	169579498	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:169579498C>G	ENST00000316428.5	-	2	336	c.279G>C	c.(277-279)ttG>ttC	p.L93F	LRRC31_ENST00000523069.1_Missense_Mutation_p.L93F|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L93F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	93								p.L93F(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTATTCAAATCTAGAC	0.428000													45	452					0	0	0.870114	0	0
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76343962T>A	ENST00000263187.3	+	11	1603	c.1499T>A	c.(1498-1500)aTa>aAa	p.I500K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	500					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I500K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTCTTGACATAGCAAGAAGA	0.348000								Mismatch excision repair (MMR)					47	140					0	0	0.870114	0	0
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:179077723C>G	ENST00000502732.1	-	12	2882	c.2679G>C	c.(2677-2679)aaG>aaC	p.K893N	ABL2_ENST00000344730.3_Missense_Mutation_p.K775N|ABL2_ENST00000367623.4_Missense_Mutation_p.K872N|ABL2_ENST00000507173.1_Missense_Mutation_p.K769N|ABL2_ENST00000408940.3_Missense_Mutation_p.K857N|ABL2_ENST00000504405.1_Missense_Mutation_p.K754N|ABL2_ENST00000511413.1_Missense_Mutation_p.K790N|ABL2_ENST00000512653.1_Missense_Mutation_p.K878N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	893	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K857N(2)|p.K893N(2)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCCACCATTCTTCTCTTTAC	0.617000			T	ETV6	AML								29	25					0	0	0.706142	0	0
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:35804479G>T	ENST00000216122.4	+	6	829	c.675G>T	c.(673-675)caG>caT	p.Q225H	MCM5_ENST00000382011.5_Missense_Mutation_p.Q182H|CTA-286B10.7_ENST00000417343.1_RNA	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q225H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTCCAGACCCTGAAGC	0.582000													42	129					2.56175e-15	2.95973e-15	0.870114	1	0
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156776988G>A	ENST00000392306.2	-	8	1321	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	SH2D2A_ENST00000368198.3_Silent_p.P366P|SH2D2A_ENST00000368199.3_Silent_p.P384P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	384					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P384P(2)|p.P394P(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCCCAAGGGGAAGCCATG	0.592000													149	213					0	0	0.870114	0	0
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50360333C>T	ENST00000391842.1	+	6	830	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTOV1_ENST00000599732.1_Silent_p.Y220Y|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.Y188Y|PTOV1_ENST00000601638.1_Silent_p.Y188Y|PTOV1_ENST00000221557.9_Silent_p.Y188Y|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Silent_p.Y220Y	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.Y220Y(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617000													20	137					0	0	0.740014	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562000													21	100					0	0	0.639603	0	0
TEX9	374618	broad.mit.edu	37	15	56681599	56681599	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:56681599G>A	ENST00000558083.2	+	5	500		c.e5+1		TEX9_ENST00000352903.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site|TEX9_ENST00000561221.2_Splice_Site			Q8N6V9	TEX9_HUMAN	testis expressed 9									p.?(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAAATTCAAGGTATAGTATAG	0.274000													5	51					0	0	0.217242	0	0
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:88482504C>T	ENST00000324166.5	+	6	2680	c.989C>T	c.(988-990)tCt>tTt	p.S330F	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.S330F|THNSL2_ENST00000402102.1_Missense_Mutation_p.S330F|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Missense_Mutation_p.S330F|THNSL2_ENST00000358591.2_Missense_Mutation_p.S330F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	330					threonine biosynthetic process		threonine synthase activity	p.S330F(2)|p.S330fs*2(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGGCTGCTCTCTGGCTCTGAC	0.547000													13	20					0	0	0.479597	0	0
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:21346252C>G	ENST00000377191.3	+	26	2461	c.2366C>G	c.(2365-2367)tCc>tGc	p.S789C	XRN2_ENST00000430571.2_Missense_Mutation_p.S713C|XRN2_ENST00000539513.1_Missense_Mutation_p.S735C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.S789C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGAAAAATCCAGCAATGGA	0.473000													26	231					0	0	0.740014	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851684	14851684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:14851684G>T	ENST00000358984.4	+	36	3564	c.3384G>T	c.(3382-3384)atG>atT	p.M1128I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1213								p.M1128I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AACTTCAAATGACCCTAAAAC	0.373000													11	29					1.99824e-07	2.13902e-07	0.520397	1	0
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62416029A>G	ENST00000330574.2	-	2	1575	c.1523T>C	c.(1522-1524)gTc>gCc	p.V508A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing	integral to membrane|integrator complex	protein binding	p.V508A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGGGTATAGACAGACAGCAG	0.577000													7	71					0	0	0.307466	0	0
KIF18B	146909	broad.mit.edu	37	17	43012664	43012664	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:43012664T>C	ENST00000587309.1	-	3	457	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	KIF18B_ENST00000438933.2_Missense_Mutation_p.Q145R|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q154R|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q145R|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q145R	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.Q145R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTTCTCCTGCTGGCGGGC	0.657000													3	21					0	0	0.150653	0	0
TSEN2	80746	broad.mit.edu	37	3	12558159	12558159	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:12558159A>T	ENST00000444864.1	+	6	1268	c.882_splice	c.e6+1	p.K294_splice	TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000284995.6_Splice_Site_p.K320_splice|TSEN2_ENST00000454502.2_Splice_Site_p.K261_splice|TSEN2_ENST00000415684.1_Splice_Site_p.K294_splice|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Splice_Site_p.K294_splice|TSEN2_ENST00000402228.3_Splice_Site_p.K320_splice	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	320					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.K320M(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TACTATGAGAAGGTAAGATGC	0.318000													28	126					0	0	0.750413	0	0
HERC1	8925	broad.mit.edu	37	15	63942001	63942001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:63942001C>T	ENST00000443617.2	-	54	10757	c.10670G>A	c.(10669-10671)gGa>gAa	p.G3557E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3557					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.G3557E(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCCAGAGATCCATCCATCCG	0.517000													28	74					0	0	0.750413	0	0
SNX9	51429	broad.mit.edu	37	6	158342655	158342655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:158342655G>T	ENST00000392185.3	+	10	1213	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	348	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.E348*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTCAGAAAGTGAAGTTTTCCA	0.438000													26	66					1.1423e-28	1.42084e-28	0.740014	1	0
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:171250036C>A	ENST00000354841.4	+	5	870	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	FMO1_ENST00000402921.2_Missense_Mutation_p.L184I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.L247I			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L247I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAATTCCCTCCCAACCCC	0.468000													36	149					4.90274e-10	5.42488e-10	0.819951	1	0
FANCM	57697	broad.mit.edu	37	14	45644332	45644332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:45644332C>G	ENST00000267430.5	+	14	2460	c.2375C>G	c.(2374-2376)tCa>tGa	p.S792*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.S766*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	792					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S792*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGTTACCTCAACATTTATT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	119					0	0	0.575678	0	0
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247654775G>A	ENST00000522351.1	+	0	406							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V116I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGTCCTCCTGGTTGTCATGTC	0.607000													108	111					0	0	0.870114	0	0
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:89294166A>G	ENST00000370521.3	+	19	2781	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	PKN2_ENST00000370505.3_Missense_Mutation_p.M651V|PKN2_ENST00000544045.1_Missense_Mutation_p.M482V|PKN2_ENST00000370513.5_Missense_Mutation_p.M760V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.M808V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTCCAGGAATGGGATATGG	0.343000													16	72					0	0	0.592651	0	0
ZNF160	90338	broad.mit.edu	37	19	53576699	53576699	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:53576699C>A	ENST00000355147.5	-	7	743	c.335G>T	c.(334-336)gGa>gTa	p.G112V	ZNF160_ENST00000418871.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000599056.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGAGACTCTTCCATGAGGTTT	0.547000													14	56					4.14922e-12	4.69028e-12	0.500413	1	0
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:114879140C>A	ENST00000274457.3	-	2	612	c.51G>T	c.(49-51)cgG>cgT	p.R17R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	17						cytoplasm		p.R17R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGGTGAGAAGCCGGAGTTTGC	0.468000													10	45					4.36969e-10	4.83885e-10	0.435327	1	0
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:57490421G>C	ENST00000262507.6	+	4	453	c.384G>C	c.(382-384)ctG>ctC	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					ubiquinone biosynthetic process	mitochondrion		p.L128L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTAGTCTCTGGGTCTCTCCA	0.512000													65	97					0	0	0.870114	0	0
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:61028318A>G	ENST00000373867.3	-	9	1153	c.688T>C	c.(688-690)Tac>Cac	p.Y230H	FAM13C_ENST00000468840.2_Missense_Mutation_p.Y230H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000435852.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Y334H|FAM13C_ENST00000442566.3_Missense_Mutation_p.Y334H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	313								p.Y313H(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTACCCGGTATTTCTTTTCT	0.493000													10	34					0	0	0.411799	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514983	50514983	+	Translation_Start_Site	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:50514983C>G	ENST00000419119.1	-	2	1556	c.3G>C	c.(1-3)atG>atC	p.M1I	FIGNL1_ENST00000395556.2_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000433017.1_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000356889.4_Start_Codon_SNP_p.M1I|FIGNL1_ENST00000435566.1_Start_Codon_SNP_p.M1I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	1					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.M1I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGGAGGTCTGCATTTTAGAGG	0.363000													3	17					0	0	0.184627	0	0
FAM13A	10144	broad.mit.edu	37	4	89671609	89671609	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:89671609G>T	ENST00000264344.5	-	15	2113	c.1906C>A	c.(1906-1908)Cct>Act	p.P636T	FAM13A_ENST00000503556.1_Missense_Mutation_p.P296T|FAM13A_ENST00000511976.1_Missense_Mutation_p.P222T|FAM13A_ENST00000508369.1_Missense_Mutation_p.P310T|FAM13A_ENST00000395002.2_Missense_Mutation_p.P310T|FAM13A_ENST00000513837.1_Missense_Mutation_p.P282T	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P310T(1)|p.P636T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGGAAGGAGGCACTTCTGTG	0.512000													28	244					8.16721e-17	9.51382e-17	0.750413	1	0
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113539390T>C	ENST00000263339.3	-	4	265	c.110A>G	c.(109-111)cAt>cGt	p.H37R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	37					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.H37R(2)		breast(2)|large_intestine(1)|lung(9)	12						ATAGCTTACATGATAGAAGGA	0.443000													89	89					0	0	0.870114	0	0
PLXND1	23129	broad.mit.edu	37	3	129290610	129290610	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:129290610T>C	ENST00000393239.1	-	16	3333	c.3155A>G	c.(3154-3156)gAg>gGg	p.E1052G	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052G			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCGACGCTCGAAGCGCAC	0.662000													3	16					0	0	0.115264	0	0
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:3822343C>G	ENST00000497571.1	-	3	1015	c.755G>C	c.(754-756)cGa>cCa	p.R252P	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation	nucleus	zinc ion binding	p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGTGTGCTTTCGGAAGTGCCT	0.542000													7	21					0	0	0.361761	0	0
DSG2	1829	broad.mit.edu	37	18	29126355	29126355	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:29126355G>C	ENST00000261590.8	+	15	3215	c.3006G>C	c.(3004-3006)ctG>ctC	p.L1002L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1002					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.L1002L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGAATCCTCTGGAAGGCACTC	0.512000													29	176					0	0	0.693898	0	0
ZEB2	9839	broad.mit.edu	37	2	145156847	145156847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:145156847A>T	ENST00000558170.2	-	8	3091	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.L612*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.L636*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.L636*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	636						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L636*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACAGATGACAAGAGGAGGGC	0.443000													15	114					0	0	0.500413	0	0
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:43508578G>C	ENST00000400427.1	+	5	958	c.562G>C	c.(562-564)Gtc>Ctc	p.V188L	UMODL1_ENST00000408910.2_Missense_Mutation_p.V260L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V188L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V260L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	260						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.V188L(2)|p.V260L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGATCAGCGTCCAGGTGCA	0.607000													8	12					0	0	0.361761	0	0
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:120916426C>T	ENST00000422003.2	+	2	215	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TBCEL_ENST00000529397.1_Silent_p.F9F	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm|cytoskeleton		p.F9F(2)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GAAGAAGTTTCATGCAAGTAT	0.383000													20	60					0	0	0.654019	0	0
PABPC3	5042	broad.mit.edu	37	13	25671037	25671037	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:25671037G>T	ENST00000281589.3	+	1	738	c.701G>T	c.(700-702)gGa>gTa	p.G234V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	234	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.G234V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGGATTTGGATTTGTAAGC	0.433000													26	75					7.01153e-11	7.83186e-11	0.717897	1	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:4674254C>G	ENST00000396952.5	+	2	1148	c.498C>G	c.(496-498)atC>atG	p.I166M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTCATCAAGCAGCTGC	0.552000													257	1050					0	0	0.870114	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61305166G>A	ENST00000341074.5	-	8	1075	c.960C>T	c.(958-960)agC>agT	p.S320S	SERPINB4_ENST00000356424.6_Silent_p.S268S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S320S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGACCGTGGCTCCAGGTCA	0.507000													65	223					0	0	0.870114	0	0
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27800886G>C	ENST00000408964.2	+	1	1498	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	483								p.D483H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACTAGATCAAGTCAC	0.423000													12	71					0	0	0.435327	0	0
NEK9	91754	broad.mit.edu	37	14	75563845	75563845	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:75563845G>A	ENST00000238616.5	-	17	2289	c.2131C>T	c.(2131-2133)Ccg>Tcg	p.P711S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	711					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.P711S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GACAGGTCCGGGACATGATGC	0.522000													24	235					0	0	0.717897	0	0
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:101671405C>T	ENST00000360264.3	+	3	222	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CUX1_ENST00000437600.4_Silent_p.L68L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Silent_p.L68L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.L68L|CUX1_ENST00000556210.1_Silent_p.L57L|CUX1_ENST00000292535.7_Silent_p.L57L|CUX1_ENST00000546411.2_Silent_p.L57L|CUX1_ENST00000550008.2_Silent_p.L57L|CUX1_ENST00000549414.2_Silent_p.L57L|CUX1_ENST00000393824.3_Silent_p.L31L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	57					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L57L(2)|p.L68L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGCCGCTGCTGAAGAGTTT	0.473000													17	68					0	0	0.654019	0	0
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128471546C>T	ENST00000322313.4	-	18	3077	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	973					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTCATGCCGCCTCTCTGACA	0.632000													9	8					0	0	0.435327	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071151	150071151	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:150071151G>C	ENST00000409642.3	+	7	952	c.551G>C	c.(550-552)aGa>aCa	p.R184T	LYPD6B_ENST00000280115.7_Missense_Mutation_p.R184T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.R160T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	160						anchored to membrane|plasma membrane		p.R184T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACGCTCAGAGAACATCTGGC	0.498000													95	833					0	0	0.870114	0	0
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:115769466A>T	ENST00000264363.2	-	9	2523	c.1845T>A	c.(1843-1845)ctT>ctA	p.L615L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	615	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L615L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGCATAAGAAGAAATA	0.318000													28	59					0	0	0.740014	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155571195C>G	ENST00000392845.2	-	1	972	c.592G>C	c.(592-594)Gat>Cat	p.D198H	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D198H	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	198					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.D198H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCCAACCATCGACGGCAATG	0.473000													5	32					0	0	0.217242	0	0
PHF14	9678	broad.mit.edu	37	7	11022767	11022767	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:11022767C>T	ENST00000403050.3	+	3	1333	c.881C>T	c.(880-882)tCt>tTt	p.S294F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	294							zinc ion binding	p.S294F(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTGACCCTATCTCAAAGCAAG	0.413000													34	102					0	0	0.853193	0	0
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152733553A>T	ENST00000368773.1	+	2	1547	c.1489A>T	c.(1489-1491)Agc>Tgc	p.S497C	KPRP_ENST00000606109.1_Missense_Mutation_p.S497C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm		p.S497C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGGCGCAGCCCCAGCCC	0.647000													25	25					0	0	0.760397	0	0
RNF138	51444	broad.mit.edu	37	18	29672847	29672847	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:29672847C>G	ENST00000261593.3	+	2	566	c.108C>G	c.(106-108)caC>caG	p.H36Q	RNF138_ENST00000585103.1_3'UTR|RNF138_ENST00000257190.5_Missense_Mutation_p.H36Q|RP11-53I6.2_ENST00000583184.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	36					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	p.H36Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTGTCAGCACGTGTGAGTAG	0.697000													6	4					0	0	0.217242	0	0
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:2832300G>A	ENST00000317243.5	+	4	451		c.e4-1		ZNF554_ENST00000591265.1_Splice_Site	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTTTTCAGAAGCCTTGAA	0.423000													27	37					0	0	0.717897	0	0
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:141302217A>G	ENST00000394203.3	+	4	506	c.328A>G	c.(328-330)Agt>Ggt	p.S110G	SCOC_ENST00000394205.3_Missense_Mutation_p.S110G|SCOC_ENST00000512749.1_Missense_Mutation_p.S70G|SCOC_ENST00000506597.1_Missense_Mutation_p.S119G|SCOC_ENST00000394201.3_Missense_Mutation_p.S147G|SCOC_ENST00000502535.1_Missense_Mutation_p.S70G|SCOC_ENST00000338517.4_Missense_Mutation_p.S110G|SCOC_ENST00000506322.1_Missense_Mutation_p.S70G	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	147						Golgi apparatus|nucleus	protein binding	p.S147G(2)|p.S110G(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTCAGCTTCTAGTGTTTTTCA	0.338000													12	10					0	0	0.457914	0	0
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:119170450G>T	ENST00000264033.4	+	16	3056	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	894	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E894*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATCCTCCGGGAATTTGTTTC	0.488000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				231	447					1.06885e-119	1.49237e-119	0.870114	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:48578088G>A	ENST00000354276.3	-	12	1269	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PLA2G4C_ENST00000599921.1_Silent_p.L314L|PLA2G4C_ENST00000599111.1_Silent_p.L324L|PLA2G4C_ENST00000413144.2_Silent_p.L314L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	314	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.L314L(3)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATTCTCGAGCATCTCAG	0.512000													94	434					0	0	0.870114	0	0
NME8	51314	broad.mit.edu	37	7	37936508	37936508	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:37936508T>A	ENST00000199447.4	+	17	1953	c.1581T>A	c.(1579-1581)aaT>aaA	p.N527K	NME8_ENST00000440017.1_Missense_Mutation_p.N527K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	527	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCAAGTGGAATGCTGTTGCAG	0.473000													9	332					0	0	0.411799	0	0
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:47193890C>A	ENST00000433867.1	-	14	2253	c.1776G>T	c.(1774-1776)gaG>gaT	p.E592D	PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D|PRKD2_ENST00000291281.4_Missense_Mutation_p.E592D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D|PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572000													12	68					1.49906e-05	1.56438e-05	0.457914	1	0
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:144124453C>A	ENST00000395172.1	+	2	387	c.35C>A	c.(34-36)tCa>tAa	p.S12*	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	12								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCTGCAATTCAGTGAGGCAG	0.607000													25	58					2.42023e-17	2.84036e-17	0.779181	1	0
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:161495729C>A	ENST00000309758.4	+	1	1694	c.1281C>A	c.(1279-1281)acC>acA	p.T427T		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					response to unfolded protein		ATP binding	p.T427T(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAAGCAGACCCAGACTTTCA	0.597000													29	19					8.16721e-17	9.51382e-17	0.750413	1	0
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:106848433A>G	ENST00000228347.4	+	20	2459	c.2237A>G	c.(2236-2238)tAt>tGt	p.Y746C	POLR3B_ENST00000539066.1_Missense_Mutation_p.Y688C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	746					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.Y746C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGATGAGCTATAGTGGCTAT	0.373000													63	122					0	0	0.870114	0	0
POLR1E	64425	broad.mit.edu	37	9	37486630	37486630	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:37486630C>T	ENST00000377792.3	+	1	481	c.193C>T	c.(193-195)Cca>Tca	p.P65S	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	65					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTCTAGTCCCACCgtacat	0.552000													9	30					0	0	0.335167	0	0
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:26553192C>G	ENST00000381340.3	-	53	7816		c.e53-1		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTTCATCAGCTATAAAAACA	0.313000													25	90					0	0	0.681144	0	0
TEP1	7011	broad.mit.edu	37	14	20851673	20851673	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:20851673C>A	ENST00000262715.5	-	26	3881	c.3841G>T	c.(3841-3843)Gac>Tac	p.D1281Y	TEP1_ENST00000556935.1_Missense_Mutation_p.D1173Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1281	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.D1281Y(1)		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)		GGGATCCAGTCTGAAATCAGC	0.602000													10	71					0.00010058	0.000104117	0.411799	1	0
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:110551679G>A	ENST00000369799.5	+	2	511	c.144G>A	c.(142-144)atG>atA	p.M48I	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000359172.3_Start_Codon_SNP_p.M1I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	48					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.M48I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGATGACATGCAGGAGTTCA	0.393000													17	100					0	0	0.539581	0	0
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:17893966C>A	ENST00000594202.1	+	24	2357	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	FCHO1_ENST00000597512.1_Missense_Mutation_p.A700D|FCHO1_ENST00000596536.1_Missense_Mutation_p.A693D|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693D|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	693								p.A693D(2)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCCCAACGCCGATCTGCTG	0.617000													30	98					3.90053e-15	4.49547e-15	0.760397	1	0
TAPBP	6892	broad.mit.edu	37	6	33272866	33272866	+	Silent	SNP	G	G	A	rs145473025		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:33272866G>A	ENST00000434618.2	-	4	1113	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TAPBP_ENST00000426633.2_Silent_p.F256F|TAPBP_ENST00000475304.1_Silent_p.F274F|TAPBP_ENST00000456592.2_Silent_p.F256F|TAPBP_ENST00000489157.1_Silent_p.F169F	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	256					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	p.F256F(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGCAGCCAGAAGGTCCCAT	0.582000													14	65					0	0	0.457914	0	0
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:128843023T>A	ENST00000296468.3	-	11	1221	c.1094A>T	c.(1093-1095)cAg>cTg	p.Q365L	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACCTTCCCACTGTATTTTGGG	0.368000													24	20					0	0	0.681144	0	0
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512000													18	55					0	0	0.557998	0	0
PSG11	5680	broad.mit.edu	37	19	43530537	43530537	+	Translation_Start_Site	SNP	G	G	A	rs1064913		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43530537G>A	ENST00000401740.1	-	0	91				PSG11_ENST00000320078.7_De_novo_Start_OutOfFrame|PSG11_ENST00000306322.7_De_novo_Start_OutOfFrame|PSG11_ENST00000403486.1_De_novo_Start_OutOfFrame			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTCTGCTGCGTGCATGTTCT	0.582000													46	49					0	0	0.870114	0	0
PIGT	51604	broad.mit.edu	37	20	44054330	44054330	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:44054330C>G	ENST00000279036.6	+	12	1681	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PIGT_ENST00000279035.9_Missense_Mutation_p.T432S|PIGT_ENST00000543458.2_Missense_Mutation_p.T478S|PIGT_ENST00000341555.5_Missense_Mutation_p.T340S|PIGT_ENST00000535404.1_Missense_Mutation_p.T379S|PIGT_ENST00000545755.1_Missense_Mutation_p.T272S|PIGT_ENST00000372689.5_Missense_Mutation_p.T467S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	534					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T534S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCACGTGCACTGTGGTGGCC	0.612000													4	50					0	0	0.150653	0	0
NRP2	8828	broad.mit.edu	37	2	206607987	206607987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:206607987C>T	ENST00000360409.3	+	9	2143	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NRP2_ENST00000357118.4_Missense_Mutation_p.S451F|NRP2_ENST00000412873.2_Missense_Mutation_p.S451F|NRP2_ENST00000355117.4_Missense_Mutation_p.S451F|NRP2_ENST00000272849.3_Missense_Mutation_p.S451F|NRP2_ENST00000357785.5_Missense_Mutation_p.S451F|NRP2_ENST00000417189.1_Missense_Mutation_p.S451F|NRP2_ENST00000540178.1_Missense_Mutation_p.S451F|NRP2_ENST00000540841.1_Missense_Mutation_p.S451F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	451	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.S451F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCAGATCTCCGCCTCTTCC	0.617000													47	409					0	0	0.870114	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:202207129C>A	ENST00000405148.2	-	7	931	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.C163F|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.C163F|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.C163F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	163					regulation of GTPase activity		protein binding	p.C163F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CATCTCAGCACAGCGGAGATC	0.483000													150	150					9.35679e-66	1.27126e-65	0.870114	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039092	184039092	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184039092C>T	ENST00000342981.4	+	9	1134	c.720C>T	c.(718-720)atC>atT	p.I240I	EIF4G1_ENST00000319274.6_Silent_p.I240I|EIF4G1_ENST00000441154.1_Silent_p.I76I|EIF4G1_ENST00000424196.1_Silent_p.I247I|EIF4G1_ENST00000352767.3_Silent_p.I247I|EIF4G1_ENST00000350481.5_Silent_p.I76I|EIF4G1_ENST00000414031.1_Silent_p.I200I|EIF4G1_ENST00000382330.3_Silent_p.I247I|EIF4G1_ENST00000434061.2_Silent_p.I44I|EIF4G1_ENST00000392537.2_Silent_p.I153I|EIF4G1_ENST00000435046.2_Silent_p.I44I|EIF4G1_ENST00000411531.1_Silent_p.I200I|EIF4G1_ENST00000346169.2_Silent_p.I240I|EIF4G1_ENST00000427845.1_Silent_p.I153I|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	240					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I240I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAGCAATCATTGCTGACC	0.572000													9	109					0	0	0.387290	0	0
ATP2B1	490	broad.mit.edu	37	12	90029006	90029006	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:90029006C>T	ENST00000428670.3	-	4	885	c.429G>A	c.(427-429)ggG>ggA	p.G143G	ATP2B1_ENST00000348959.3_Silent_p.G143G|ATP2B1_ENST00000261173.2_Silent_p.G143G|ATP2B1_ENST00000359142.3_Silent_p.G143G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	143					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G143G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTCTTCCTCCCCAACAGAAA	0.378000													12	117					0	0	0.457914	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:140508500C>G	ENST00000371421.4	+	5	516	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151								p.S151C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACGTGGCCTCTGCCACCAAG	0.652000													7	12					0	0	0.248553	0	0
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219920102G>A	ENST00000295731.5	-	3	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	355					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.H355Y(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCCAGGTGGTGGTCAGCC	0.647000													14	11					0	0	0.539581	0	0
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site	SNP	C	C	A	rs28940587		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64518939C>A	ENST00000164139.3	-	16	2226		c.e16-1		PYGM_ENST00000377432.3_Splice_Site|PYGM_ENST00000462303.1_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.?(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGGTGCAGCCTGAGGGGACA	0.602000													9	28					4.68919e-08	5.06562e-08	0.361761	1	0
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:12374318G>A	ENST00000358136.3	+	30	7212	c.7082G>A	c.(7081-7083)tGt>tAt	p.C2361Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2361Y	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2361				C -> R (in Ref. 6; CAE46021).	protein localization			p.C2361Y(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGTTCAGCTGTATCTTTCAG	0.493000													101	79					0	0	0.870114	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332433	71332433	+	Missense_Mutation	SNP	C	C	G	rs140128333		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:71332433C>G	ENST00000242462.4	-	2	396	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	123	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.E123Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCAGCGTCTCGATCTTGGTG	0.652000													10	49					0	0	0.411799	0	0
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:23848711G>T	ENST00000303531.7	+	2	341	c.189G>T	c.(187-189)caG>caT	p.Q63H	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Missense_Mutation_p.Q63H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	63					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.Q63H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGGAAGCAGGGATTCCAGT	0.547000													22	60					2.41591e-17	2.83764e-17	0.681144	1	0
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:112838147C>G	ENST00000280155.2	+	1	1358	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	116					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.F116L(2)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	ACGTGCTCTTCTGCACGTCGT	0.622000													4	15					0	0	0.150653	0	0
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53010126G>A	ENST00000305748.3	-	2	520	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.T162T(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCCACTTGGTCTCCAGCA	0.552000													18	129					0	0	0.575678	0	0
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:24310356C>G	ENST00000357002.4	+	4	1669	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Y433*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	518					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y518*(2)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAAACCCTACAAATGTGAAG	0.368000													58	157					0	0	0.870114	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140788971A>T	ENST00000520790.1	+	1	1202	c.1202A>T	c.(1201-1203)tAc>tTc	p.Y401F	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.Y401F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATAACTACTACAAACTG	0.458000													20	37					0	0	0.575678	0	0
ZNF300	91975	broad.mit.edu	37	5	150276098	150276098	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:150276098G>A	ENST00000446148.2	-	7	1178	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	ZNF300_ENST00000274599.5_Missense_Mutation_p.H235Y|ZNF300_ENST00000418587.2_Missense_Mutation_p.H199Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H235Y|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H235Y(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCCATTGTGAATCTTCTCA	0.343000													35	158					0	0	0.834066	0	0
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:37821747C>T	ENST00000345060.3	-	2	1711	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	406					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	p.G406R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TAAGAAACTCCCCAAGAAGCC	0.507000													7	12					0	0	0.307466	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756552	15756552	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:15756552C>G	ENST00000221307.7	+	3	270	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.L74L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGAAGGTCTCCTATACACAC	0.557000													33	163					0	0	0.840704	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:209218694G>T	ENST00000264380.4	+	40	6075	c.5917G>T	c.(5917-5919)Gtc>Ttc	p.V1973F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1973	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.V1973F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTGATGTGGTCCTGCTAGA	0.393000													74	63					1.25089e-41	1.64114e-41	0.870114	1	0
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:235949751A>G	ENST00000409212.1	+	4	845	c.338A>G	c.(337-339)aAc>aGc	p.N113S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.N113S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.N113S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.N113S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTTGAACTACCGGAAC	0.552000													15	65					0	0	0.479597	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798781	113798781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113798781G>A	ENST00000281273.4	+	8	1032	c.775G>A	c.(775-777)Gag>Aag	p.E259K	QTRTD1_ENST00000479882.1_Missense_Mutation_p.E136K|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E153K|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E271K	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	259					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.E259K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TCGGCCAGATGAGGTGCTCGA	0.408000													63	567					0	0	0.870114	0	0
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:108778673C>T	ENST00000232603.5	-	12	1093	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000483760.1_Silent_p.K337K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	337					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363000													116	229					0	0	0.870114	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:113436310G>T	ENST00000313341.3	-	2	648	c.322C>A	c.(322-324)Cgc>Agc	p.R108S		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.R108S(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTCTTGATGCGCTGCACCGTC	0.687000													17	19					3.32936e-07	3.55316e-07	0.539581	1	0
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52448768G>T	ENST00000545748.1	+	3	1813	c.818G>T	c.(817-819)gGg>gTg	p.G273V	NR4A1_ENST00000243050.1_Missense_Mutation_p.G219V|NR4A1_ENST00000394825.1_Missense_Mutation_p.G219V|NR4A1_ENST00000550082.1_Missense_Mutation_p.G232V|NR4A1_ENST00000360284.3_Missense_Mutation_p.G232V|NR4A1_ENST00000394824.2_Missense_Mutation_p.G219V|NR4A1_ENST00000548232.1_Missense_Mutation_p.G219V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	p.G219V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CACCAGCTGGGGGAGGGAGAG	0.632000													24	46					3.73988e-18	4.43327e-18	0.706142	1	0
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:117552698A>T	ENST00000256652.4	+	2	328	c.270A>T	c.(268-270)cgA>cgT	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													26	92					0	0	0.769981	0	0
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:669766C>G	ENST00000281017.3	-	4	411	c.318G>C	c.(316-318)atG>atC	p.M106I	TMEM18_ENST00000355654.2_Missense_Mutation_p.M93I|TMEM18_ENST00000405941.3_Missense_Mutation_p.M109I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	106					cell migration	integral to membrane|nuclear membrane		p.M106I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCACAATGATCATGGCATTCA	0.358000													19	81					0	0	0.592651	0	0
SV2A	9900	broad.mit.edu	37	1	149882451	149882451	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:149882451G>A	ENST00000369146.3	-	4	1372	c.882C>T	c.(880-882)agC>agT	p.S294S	SV2A_ENST00000369145.1_Silent_p.S294S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	294					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S294S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCAGAGCCAGCTCAAATGCT	0.542000													14	69					0	0	0.520397	0	0
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156776986A>C	ENST00000392306.2	-	8	1323	c.1184T>G	c.(1183-1185)cTt>cGt	p.L395R	SH2D2A_ENST00000368198.3_Missense_Mutation_p.L367R|SH2D2A_ENST00000368199.3_Missense_Mutation_p.L385R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	385					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.L385R(2)|p.L395R(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGCCCAAGGGGAAGCCA	0.582000													150	203					0	0	0.870114	0	0
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:4892412G>T	ENST00000328908.5	+	4	783	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDYL_ENST00000343762.5_Nonsense_Mutation_p.E32*|CDYL_ENST00000449732.2_Nonsense_Mutation_p.E32*|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E164*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	218					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.E218*(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGAGCCCTGAGAAACTGGA	0.597000													19	16					7.33532e-06	7.69473e-06	0.667858	1	0
PCSK2	5126	broad.mit.edu	37	20	17446140	17446140	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:17446140G>C	ENST00000262545.2	+	11	1687	c.1372G>C	c.(1372-1374)Gac>Cac	p.D458H	PCSK2_ENST00000536609.1_Missense_Mutation_p.D423H|PCSK2_ENST00000377899.1_Missense_Mutation_p.D439H|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	458					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D458H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATGGCTAAAGACTGGAAAAC	0.567000													13	75					0	0	0.479597	0	0
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:121295936C>G	ENST00000297848.3	+	32	4156	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1296A|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1201A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1296	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1296A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGGATTCTTCCTGACACTCC	0.388000													14	66					0	0	0.020292	0	0
SYT11	23208	broad.mit.edu	37	1	155838184	155838184	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:155838184G>C	ENST00000368324.4	+	2	716	c.463G>C	c.(463-465)Gat>Cat	p.D155H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	155						cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCCAGAGGAGGATGTCATGCT	0.517000													26	159					0	0	0.018920	0	0
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30667605G>C	ENST00000534862.1	+	7	760	c.397G>C	c.(397-399)Gac>Cac	p.D133H	HCK_ENST00000375852.2_Missense_Mutation_p.D153H|HCK_ENST00000518730.1_Missense_Mutation_p.D131H|HCK_ENST00000520553.1_Missense_Mutation_p.D132H|HCK_ENST00000538448.1_Missense_Mutation_p.D132H|HCK_ENST00000375862.2_Missense_Mutation_p.D152H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	153	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D153H(2)|p.D132H(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCCGGAAGGACGCAGAGCG	0.587000													10	26					0	0	0.010729	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:37546891G>T	ENST00000299824.1	+	11	1475	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R387L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	429					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R429L(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGCCTCCGGGCTCCGGTC	0.597000													79	248					3.71514e-35	5.28025e-35	0.014410	1	0
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:58116633G>C	ENST00000357272.4	+	25	4553	c.4388G>C	c.(4387-4389)cGa>cCa	p.R1463P	FLNB_ENST00000348383.5_Missense_Mutation_p.R1463P|FLNB_ENST00000429972.2_Missense_Mutation_p.R1463P|FLNB_ENST00000419752.2_Missense_Mutation_p.R1294P|FLNB_ENST00000358537.3_Missense_Mutation_p.R1463P|FLNB_ENST00000493452.1_Missense_Mutation_p.R1294P|FLNB_ENST00000490882.1_Missense_Mutation_p.R1463P|FLNB_ENST00000295956.4_Missense_Mutation_p.R1463P			O75369	FLNB_HUMAN	filamin B, beta	1463	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R1463P(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGGGCCCACGAGGTAAGTGT	0.617000													8	16					0	0	0.003080	0	0
PGAM5	192111	broad.mit.edu	37	12	133291505	133291505	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:133291505C>G	ENST00000498926.2	+	2	311	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	PGAM5_ENST00000454808.2_5'UTR|PXMP2_ENST00000545677.1_Missense_Mutation_p.A124G|PGAM5_ENST00000317555.2_Missense_Mutation_p.L85V|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	85						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GGAAGAAGAGCTGGCGTCCAA	0.542000													6	77					0	0	0.004482	0	0
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:42355849T>A	ENST00000554171.1	+	5	2453	c.21T>A	c.(19-21)taT>taA	p.Y7*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.Y7*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.Y7*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	7						integral to membrane		p.Y7*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTTTTTTATCTGTTTCTCA	0.363000										HNSCC(30;0.082)			5	14					0	0	0.021553	0	0
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:154133184C>T	ENST00000360256.4	-	16	5688	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1830K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTGGTTTCATTAGGCTTG	0.418000													9	17					0	0	0.004482	0	0
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:156136166G>T	ENST00000329476.3	+	2	1564	c.1075G>T	c.(1075-1077)Gct>Tct	p.A359S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A359S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.A359S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GACATTCAAGGCTAAAAAGAA	0.498000													9	24					0.000442599	0.000472563	0.006214	1	0
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:67800450G>T	ENST00000313468.5	+	4	277	c.170G>T	c.(169-171)cGc>cTc	p.R57L	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	57					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	p.R57L(2)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CGGGCAGCCCGCACCCTGCTG	0.652000													44	57					6.21074e-16	8.31274e-16	0.011902	1	0
SALL3	27164	broad.mit.edu	37	18	76754521	76754521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:76754521G>T	ENST00000536229.3	+	1	2840	c.2131G>T	c.(2131-2133)Gag>Tag	p.E711*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.E844*|SALL3_ENST00000537592.2_Nonsense_Mutation_p.E844*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCCGCCCTGGAGAACCAGAT	0.667000													9	35					1.12685e-05	1.2575e-05	0.004482	1	0
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:7231811G>T	ENST00000383467.2	+	1	689	c.675G>T	c.(673-675)ccG>ccT	p.P225P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTCCTTCCCGAGGTCGCTTT	0.577000													15	50					3.35478e-16	4.49478e-16	0.024245	1	0
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:230020567C>G	ENST00000392054.3	-	3	576	c.237G>C	c.(235-237)ccG>ccC	p.P79P	PID1_ENST00000392055.3_Silent_p.P48P|PID1_ENST00000354069.6_Silent_p.P81P|PID1_ENST00000409462.1_Intron|PID1_ENST00000482518.2_5'UTR	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81						cytoplasm		p.P79P(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTTCATCAGCGGTGTGGTCG	0.527000													29	61					0	0	0.027356	0	0
TTN	7273	broad.mit.edu	37	2	179575833	179575833	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179575833T>G	ENST00000589042.1	-	97	28354	c.28130A>C	c.(28129-28131)aAc>aCc	p.N9377T	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N8133T|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N9060T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9060	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTATAGGGTTTGTAGCTGT	0.383000													5	101					0	0	0.021553	0	0
NCAM1	4684	broad.mit.edu	37	11	113103046	113103046	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113103046C>G	ENST00000316851.7	+	10	1365	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I464M|NCAM1_ENST00000533760.1_Missense_Mutation_p.I337M	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	465	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.I464M(2)|p.I455M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATATCAAGATCTACAACACCC	0.527000													6	52					0	0	0.001984	0	0
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:122063033G>T	ENST00000454328.1	-	11	1050	c.823C>A	c.(823-825)Cac>Aac	p.H275N	TNIP3_ENST00000057513.3_Missense_Mutation_p.H275N|TNIP3_ENST00000507879.1_Missense_Mutation_p.H345N|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.H352N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	275								p.H275N(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTTGCAGGTGGAAAACCAAG	0.502000													10	16					2.80697e-09	3.42755e-09	0.010729	1	0
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:24631533G>T	ENST00000396864.3	+	2	467	c.180_splice	c.e2+1	p.K60_splice	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	60					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.K60N(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTTCTTCAAGGTGAAAGGGC	0.532000													18	62					7.05477e-17	9.50071e-17	0.004990	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52719320G>T	ENST00000322088.6	+	8	1044	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.C150F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C274F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	329	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.C329F(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATCTTGCCCTGCATCAAGGTA	0.532000			Mis		clear cell ovarian carcinoma								10	33					0.000673444	0.000716116	0.008291	1	0
CRNKL1	51340	broad.mit.edu	37	20	20025969	20025969	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:20025969C>G	ENST00000377340.2	-	7	1298	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E262Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E411Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	423					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E423Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATTTTCTTCAAACTTGGCA	0.363000													14	80					0	0	0.016723	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:125298590C>A	ENST00000538699.1	-	2	1398	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.E440*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440								p.E440*(4)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTTCATCTCCGGCCAGTTG	0.577000													33	83					3.03874e-20	4.1521e-20	0.015359	1	0
MRPL45	84311	broad.mit.edu	37	17	36453205	36453205	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:36453205G>T	ENST00000312513.5	+	1	217	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	19					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	p.W19L(2)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGCTGGTGGTTTCGGCAG	0.572000													14	57					1.15088e-07	1.35112e-07	0.028581	1	0
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:18112823C>A	ENST00000403915.1	+	3	999	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.S183Y|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	183					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.S183Y(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTGCCTGTCCGCTAAGCTT	0.507000													12	28					0.000978159	0.00103509	0.010729	1	0
DOCK2	1794	broad.mit.edu	37	5	169267790	169267790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:169267790C>G	ENST00000256935.8	+	27	2813	c.2733C>G	c.(2731-2733)atC>atG	p.I911M	DOCK2_ENST00000520908.1_Missense_Mutation_p.I403M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	911					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.I911M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGAGATCATGGTCCAGC	0.473000													3	28					0	0	0.004672	0	0
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15103747G>T	ENST00000378217.3	+	5	534	c.347G>T	c.(346-348)aGa>aTa	p.R116I	OLAH_ENST00000378228.3_Missense_Mutation_p.R63I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	63					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.R116I(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTCCTGGAAGAGAAAGCAGA	0.423000													16	21					2.31682e-05	2.56142e-05	0.024245	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178506897G>C	ENST00000315475.6	+	5	1770	c.1464G>C	c.(1462-1464)agG>agC	p.R488S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R488S(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACATGAGAGGATCCACACTG	0.393000													9	25					0	0	0.004482	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745530	135745530	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:135745530C>G	ENST00000375845.3	-	7	942	c.912G>C	c.(910-912)aaG>aaC	p.K304N	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K321N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K191N|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.K304N(1)									AGTTTTCCTCCTTCTCCAGGC	0.408000													8	65					0	0	0.004482	0	0
NKTR	4820	broad.mit.edu	37	3	42680905	42680905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:42680905G>T	ENST00000232978.8	+	13	3897	c.3709G>T	c.(3709-3711)Gca>Tca	p.A1237S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1237					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.A1237S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAACCTGGCAGCACCTAATGC	0.478000													9	44					1.04858e-14	1.38505e-14	0.006214	1	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							binding|oxidoreductase activity	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000													14	42					0	0	0.020292	0	0
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55681456G>A	ENST00000344514.1	-	1	602	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388000													6	18					0	0	0.003080	0	0
NGDN	25983	broad.mit.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:23945466G>C	ENST00000397154.3	+	8	576	c.563G>C	c.(562-564)cGg>cCg	p.R188P	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000408901.3_Missense_Mutation_p.R188P			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468000													9	52					0	0	0.006214	0	0
PRAME	23532	broad.mit.edu	37	22	22892257	22892257	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22892257C>G	ENST00000543184.1	-	4	1706	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PRAME_ENST00000398741.1_Missense_Mutation_p.E282Q|PRAME_ENST00000398743.2_Missense_Mutation_p.E282Q|PRAME_ENST00000405655.3_Missense_Mutation_p.E282Q|PRAME_ENST00000539862.1_Missense_Mutation_p.E266Q|PRAME_ENST00000424204.2_Missense_Mutation_p.E266Q|PRAME_ENST00000402697.1_Missense_Mutation_p.E282Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	282					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E282Q(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATATACTGCTCTTCCTTCTCC	0.502000													7	46					0	0	0.001984	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100561198	100561198	+	RNA	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100561198T>C	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						TCTCCGTTTGTAGTTATCTAA	0.498000													3	8					0	0	0.004672	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288183	132288183	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:132288183C>T	ENST00000467992.2	+	1	947	c.633C>T	c.(631-633)gcC>gcT	p.A211A	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Silent_p.A109A			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	109										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTTCCAGGGCCTCTGCTCCCT	0.642000													8	66					0	0	0.028581	0	0
DRD3	1814	broad.mit.edu	37	3	113890706	113890706	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113890706A>T	ENST00000383673.2	-	2	564	c.134T>A	c.(133-135)tTc>tAc	p.F45Y	DRD3_ENST00000460779.1_Missense_Mutation_p.F45Y|DRD3_ENST00000467632.1_Missense_Mutation_p.F45Y|DRD3_ENST00000295881.7_Missense_Mutation_p.F45Y	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	45					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCATTGCCGAAGACGATGGC	0.607000													10	104					0	0	0.006214	0	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:10602328C>T	ENST00000171111.5	-	3	1797	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													13	11					0	0	0.016723	0	0
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78400307A>T	ENST00000397909.2	+	8	1162	c.989A>T	c.(988-990)aAg>aTg	p.K330M	NAV3_ENST00000228327.6_Missense_Mutation_p.K330M|NAV3_ENST00000536525.2_Missense_Mutation_p.K330M|NAV3_ENST00000266692.7_Missense_Mutation_p.K330M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K330M(2)		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						AGTGCCAGCAAGCCCTGGCGC	0.547000										HNSCC(70;0.22)			18	36					0	0	0.006122	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:30793439C>G	ENST00000458257.1	+	2	258	c.244C>G	c.(244-246)Ctc>Gtc	p.L82V	INMT_ENST00000013222.5_Missense_Mutation_p.L83V|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.L82V														p.L83V(2)									AGACATCACTCTCTCCGACTT	0.567000													86	227					0	0	0.014410	0	0
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:142190928G>T	ENST00000519811.1	+	17	2989	c.2919G>T	c.(2917-2919)gcG>gcT	p.A973A	DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000262585.2_Silent_p.A893A|DENND3_ENST00000424248.1_Silent_p.A841A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893								p.A893A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACAAGCGGTGGACGTGC	0.577000													19	53					1.67942e-08	2.01869e-08	0.006122	1	0
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:70535449C>A	ENST00000377844.4	-	3	1567	c.808G>T	c.(808-810)Gca>Tca	p.A270S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A77S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	270	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTATATGCAAATTGGACA	0.353000													5	14					0.000602214	0.000640893	0.014758	1	0
GDF2	2658	broad.mit.edu	37	10	48414052	48414052	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:48414052C>G	ENST00000249598.1	-	2	975	c.816G>C	c.(814-816)ctG>ctC	p.L272L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	272					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCATCTCCCTCAGCTCCAGCC	0.572000													9	57					0	0	0.004482	0	0
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:148513776C>T	ENST00000320356.2	-	12	1626	c.1505_splice	c.e12+1	p.R502_splice	EZH2_ENST00000478654.1_Splice_Site_p.R488_splice|EZH2_ENST00000460911.1_Splice_Site_p.R497_splice|EZH2_ENST00000350995.2_Splice_Site_p.R458_splice|EZH2_ENST00000476773.1_Splice_Site_p.R488_splice|EZH2_ENST00000541220.1_Splice_Site_p.R488_splice|EZH2_ENST00000483967.1_Splice_Site_p.R488_splice	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	497					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R502Q(2)|p.R458Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAGACTCACCGGTGTTTCCT	0.453000			Mis		DLBCL								19	20					0	0	0.008871	0	0
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62294197C>A	ENST00000378024.4	-	5	7966	c.7692G>T	c.(7690-7692)ggG>ggT	p.G2564G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2564					nervous system development	nucleus	protein binding	p.G2564G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACTTAGGCCCTTTCAACT	0.483000													51	90					2.81731e-22	3.88604e-22	0.014410	1	0
PRNP	5621	broad.mit.edu	37	20	4680383	4680383	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:4680383A>C	ENST00000379440.4	+	2	804	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PRNP_ENST00000430350.2_Missense_Mutation_p.N173H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	173	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.N173H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CAGCAACCAGAACAACTTTGT	0.493000													8	48					0	0	0.003080	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762481	140762481	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140762481G>C	ENST00000518325.1	+	1	15	c.15G>C	c.(13-15)ccG>ccC	p.P5P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1												p.P5P(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCAGCCGAGGGGCGGGG	0.612000											OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	83					0	0	0.020292	0	0
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:90642323G>T	ENST00000257749.4	-	9	3037	c.2330C>A	c.(2329-2331)cCc>cAc	p.P777H	BACH2_ENST00000537989.1_Missense_Mutation_p.P777H|BACH2_ENST00000343122.3_Missense_Mutation_p.P777H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	777						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P777H(4)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGTCCGGGGGGAGCCGC	0.632000													53	45					1.51943e-15	2.02333e-15	0.014410	1	0
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:104120405G>T	ENST00000361355.4	+	11	1900	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	428					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G428G(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGATAATGGGAGCAACCAAG	0.348000													16	62					2.48551e-13	3.21813e-13	0.004990	1	0
GAS2L3	283431	broad.mit.edu	37	12	101018004	101018004	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:101018004T>C	ENST00000537247.1	+	10	2063	c.1109T>C	c.(1108-1110)tTg>tCg	p.L370S	GAS2L3_ENST00000266754.5_Missense_Mutation_p.L474S|GAS2L3_ENST00000539410.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L474S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	474					cell cycle arrest			p.L474S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAGTATTTGAAACATAAT	0.403000													5	35					0	0	0.014758	0	0
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:90020012A>T	ENST00000268122.4	-	9	1353	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	RHCG_ENST00000544600.1_Missense_Mutation_p.C429S	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.C429S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTCAAAGCAGTTCTCATCT	0.547000													14	36					0	0	0.024245	0	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:124294222G>T	ENST00000356130.3	-	1	567	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000													7	25					0.00198382	0.00207745	0.001984	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724115	38724115	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:38724115G>T	ENST00000342213.2	-	1	1459	c.1113C>A	c.(1111-1113)acC>acA	p.T371T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	371						integral to membrane	sugar binding	p.T371T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCTGATGGGGTGATAGTGG	0.488000													9	43					5.4927e-09	6.68211e-09	0.004482	1	0
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:20404000G>A	ENST00000381150.1	-	4	591	c.201C>T	c.(199-201)gaC>gaT	p.D67D	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.D67D|SDC1_ENST00000254351.4_Silent_p.D67D	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	67					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.D67D(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGAGCTGCGTGTCCTTCCAAG	0.637000													90	63					0	0	0.014410	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319507	21319507	+	Silent	SNP	C	C	A	rs143946927	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:21319507C>A	ENST00000583088.1	+	3	1748	c.853C>A	c.(853-855)Cgg>Agg	p.R285R	KCNJ12_ENST00000331718.5_Silent_p.R285R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCATCAGCCGGCAGGACCT	0.622000										Prostate(3;0.18)			10	89					3.86212e-05	4.24476e-05	0.008291	1	0
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60636693C>T	ENST00000278853.5	+	2	272	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	91					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P91L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCAGGAGCCTGCAGTCTTC	0.577000													16	30					0	0	0.006122	0	0
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52327146T>A	ENST00000339223.4	+	2	324	c.145T>A	c.(145-147)Tgg>Agg	p.W49R	FPR3_ENST00000595991.1_Missense_Mutation_p.W49R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	49					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W49R(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTTGTGATCTGGGTGGCTGG	0.552000													37	49					0	0	0.025465	0	0
PYGO2	90780	broad.mit.edu	37	1	154931475	154931475	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:154931475C>T	ENST00000368457.2	-	3	1172	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	PYGO2_ENST00000368456.1_Missense_Mutation_p.R297Q	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	334					Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCTCACTCCGACAGGCACC	0.632000													7	63					0	0	0.003080	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:148797297A>T	ENST00000355220.5	+	4	328	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S47C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	76						cytoplasm|nucleus	protein binding	p.S76C(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGACAGGAGTCCCAGGAG	0.502000													35	61					0	0	0.015359	0	0
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:35776497G>T	ENST00000440995.2	+	29	4202	c.4202_splice	c.e29+1	p.S1401_splice	SPEF2_ENST00000356031.3_Splice_Site_p.S1406_splice|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.S1406I(1)		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)			GAAATGGCCAGGTAAAGTACT	0.308000													8	30					5.68852e-11	7.15301e-11	0.004482	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42407924G>T	ENST00000599846.1	+	21	2198	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	ARHGEF1_ENST00000337665.4_Silent_p.L650L|ARHGEF1_ENST00000354532.3_Silent_p.L635L|ARHGEF1_ENST00000347545.4_Silent_p.L602L|ARHGEF1_ENST00000378152.4_Silent_p.L617L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	635	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.L650L(2)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCCTATGCTGAGCGAGTTCA	0.627000													19	35					7.21436e-19	9.80644e-19	0.008871	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105408231G>A	ENST00000333244.5	-	7	13676	c.13557C>T	c.(13555-13557)gaC>gaT	p.D4519D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus		p.D4519D(2)		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)			GGACCTCCAGGTCGGCGGAAG	0.622000													33	136					0	0	0.010818	0	0
KRT82	3888	broad.mit.edu	37	12	52788852	52788852	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52788852G>T	ENST00000257974.2	-	9	1526	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGCTCGCAGGGGACATAGA	0.632000													24	72					5.49717e-05	6.03674e-05	0.018920	1	0
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:71004033G>A	ENST00000357250.6	-	5	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	COL9A1_ENST00000370496.3_Missense_Mutation_p.S178F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	178	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S178F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATGCCACTGGGAATCAAACAA	0.423000													20	66					0	0	0.008871	0	0
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:49842403G>T	ENST00000340652.3	+	3	1349	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		p.E265*(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCCTGTGTACGAGCCTGATCA	0.577000													16	38					6.31663e-08	7.49634e-08	0.024245	1	0
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:11133706A>G	ENST00000409790.1	+	14	1863	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R527G|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	545								p.R545G(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACTCATCAGGATCATGAA	0.577000													4	8					0	0	0.014758	0	0
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:49720763C>G	ENST00000296456.5	+	22	2587	c.2187C>G	c.(2185-2187)caC>caG	p.H729Q	APEH_ENST00000438011.1_Missense_Mutation_p.H734Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	729					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.H729Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACGCACACACTTGGGCAGCT	0.567000													18	93					0	0	0.007413	0	0
BMPR2	659	broad.mit.edu	37	2	203421164	203421164	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:203421164G>A	ENST00000374580.4	+	12	3315	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	926					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CACAGCAGCAGATCCTGGGCC	0.488000													5	149					0	0	0.014758	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													4	59					0	0	0.009096	0	0
VPS13C	54832	broad.mit.edu	37	15	62212764	62212764	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:62212764G>T	ENST00000261517.5	-	56	7218	c.7145C>A	c.(7144-7146)tCt>tAt	p.S2382Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.S2382Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2339Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2339Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2382					protein localization			p.S2382Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTCCTGAAGAAATATGAAT	0.308000													3	10					6.4e-05	6.9887e-05	0.004672	1	0
CDK11A	728642	broad.mit.edu	37	1	1647827	1647827	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:1647827T>A	ENST00000356200.3	-	4	578	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	CDK11A_ENST00000378633.1_Missense_Mutation_p.Q139L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q139L|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q115L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q139L|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q139L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q149L					cyclin-dependent kinase 11A									p.E149V(1)|p.Q139L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTTCTCTTCTGTCTTTCCCA	0.502000													15	70					0	0	0.012319	0	0
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	C	A	rs145032542	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:27169157C>A	ENST00000360046.5	-	2	715	c.650G>T	c.(649-651)cGc>cTc	p.R217L	HOXA3_ENST00000467897.2_Intron|HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R217L	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGTTCGAGAGCGCTTAGGCTC	0.592000													14	54					0.00400662	0.00417569	0.028581	1	0
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124103792T>A	ENST00000360013.3	+	11	1992	c.1865T>A	c.(1864-1866)cTg>cAg	p.L622Q	KALRN_ENST00000460856.1_Missense_Mutation_p.L622Q|KALRN_ENST00000240874.3_Missense_Mutation_p.L622Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	622					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L622Q(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTCGACACCTGGAGGTGCGC	0.562000													18	43					0	0	0.004990	0	0
HTR2C	3358	broad.mit.edu	37	X	113965884	113965884	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:113965884C>A	ENST00000276198.1	+	4	945	c.217C>A	c.(217-219)Ctt>Att	p.L73I	HTR2C_ENST00000371951.1_Missense_Mutation_p.L73I|HTR2C_ENST00000371950.3_Missense_Mutation_p.L73I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	73					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.L73I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGGCAACATCCTTGTGATCAT	0.443000													13	36					0.000151284	0.000163123	0.016723	1	0
DNAAF3	352909	broad.mit.edu	37	19	55677957	55677957	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55677957C>T	ENST00000527223.2	-	1	61	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.V20V	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0								p.V20V(1)									GGACCCGCGGCACTCCACAAC	0.582000													28	139					0	0	0.006320	0	0
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:33734940G>T	ENST00000358232.6	+	12	1316	c.1253G>T	c.(1252-1254)tGg>tTg	p.W418L	ELP2_ENST00000542824.1_Missense_Mutation_p.W348L|ELP2_ENST00000350494.6_Missense_Mutation_p.W413L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Missense_Mutation_p.W348L|ELP2_ENST00000351393.6_Missense_Mutation_p.W392L|ELP2_ENST00000442325.2_Missense_Mutation_p.W483L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	418					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.W418L(2)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTGCTCCATGGAAGAGAAAA	0.398000													13	21					1.5842e-08	1.91126e-08	0.016723	1	0
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:49897671G>C	ENST00000477224.1	-	10	1353	c.875C>G	c.(874-876)tCt>tGt	p.S292C	CAMKV_ENST00000463537.1_Missense_Mutation_p.S292C|CAMKV_ENST00000467248.1_Missense_Mutation_p.S217C|CAMKV_ENST00000296471.7_Missense_Mutation_p.S264C|CAMKV_ENST00000466940.1_Missense_Mutation_p.S249C|CAMKV_ENST00000488336.1_Missense_Mutation_p.S292C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S292C(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTTCTTATCAGAAGCAGCATT	0.488000													13	35					0	0	0.013537	0	0
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:155500537C>A	ENST00000461783.3	+	14	3927	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TIAM2_ENST00000456877.2_Missense_Mutation_p.P197Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.P261Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.P221Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P909Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.P885Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P885Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P885Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.P885Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGTCTTTCCACTAAATGTT	0.373000													23	32					2.39556e-15	3.18355e-15	0.016522	1	0
NTSR1	4923	broad.mit.edu	37	20	61386117	61386117	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:61386117C>T	ENST00000370501.3	+	2	1166	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	265						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.V265V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGCTGACCGTCATGGTACGCC	0.617000													9	97					0	0	0.004482	0	0
DCDC1	341019	broad.mit.edu	37	11	31115602	31115602	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:31115602T>A	ENST00000597505.1	-	14	2112	c.2113A>T	c.(2113-2115)Acc>Tcc	p.T705S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.T324S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTACCTTGGTGATCAGCCAC	0.537000													12	68					0	0	0.016723	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:14939210C>T	ENST00000313519.5	+	2	594	c.363C>T	c.(361-363)atC>atT	p.I121I	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.I181I	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	181					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	p.I121I(1)|p.I181I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTCCTGGAATCAGCTTAGTCA	0.363000													12	57					0	0	0.010729	0	0
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:75265292C>T	ENST00000325680.7	+	5	3416	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q903*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Q1098*(2)|p.Q903*(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGTGGTCTTCAAGGGAGCCA	0.602000													47	37					0	0	0.014410	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:24911677T>A	ENST00000313367.2	-	3	559	c.108A>T	c.(106-108)gaA>gaT	p.E36D	OSBPL3_ENST00000353930.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E36D|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E36D	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	36					lipid transport		lipid binding|protein binding	p.E36D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCACCACTTCCCAGCTGT	0.413000													19	29					0	0	0.007413	0	0
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56310672G>A	ENST00000528616.2	-	1	85	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTGGAGTTCCGGGCAATCTGT	0.458000													9	40					0	0	0.006214	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683366	140683366	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140683366A>T	ENST00000239451.4	-	1	246	c.67T>A	c.(67-69)Tgt>Agt	p.C23S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGTACACACGCTGTCCCC	0.597000													9	47					0	0	0.008291	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305589	110305589	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110305589G>C	ENST00000239690.4	-	4	998	c.624C>G	c.(622-624)atC>atG	p.I208M	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I179M	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	208								p.I208M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTTCTTACTGATAGTGACCC	0.363000													3	43					0	0	0.004672	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:104335781G>A	ENST00000361820.3	-	9	3623	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGCTGACGGGGTCCCACATT	0.448000													15	45					0	0	0.020292	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289811	68289811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:68289811G>A	ENST00000219345.5	+	5	728	c.645G>A	c.(643-645)tgG>tgA	p.W215*	PLA2G15_ENST00000566188.1_Missense_Mutation_p.E174K|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.W121*	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	215					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	p.W215*(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGCAGGCCTGGAAGGACAAGT	0.632000													14	34					0	0	0.024245	0	0
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:169528470C>T	ENST00000367796.3	-	5	852	c.651G>A	c.(649-651)gtG>gtA	p.V217V	F5_ENST00000367797.3_Silent_p.V217V|F5_ENST00000546081.1_Silent_p.V80V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	217	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V217V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCATCAAACACAGCAAATA	0.463000													26	25					0	0	0.024334	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:11505373G>T	ENST00000379237.1	-	15	1948	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518						intracellular	Rab GTPase activator activity	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000													66	70					1.1362e-29	1.60787e-29	0.014410	1	0
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:4186205C>T	ENST00000396981.2	-	5	603	c.438G>A	c.(436-438)agG>agA	p.R146R	UBE2G1_ENST00000572484.1_Silent_p.R75R	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R146R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTCTATCTTCCCTCCATTCTT	0.323000													3	6					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													45	61					0	0	0.009718	0	0
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180581966C>A	ENST00000328275.1	+	1	24	c.24C>A	c.(22-24)tcC>tcA	p.S8S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACCAGTCCTACACAGATG	0.507000													22	59					1.55469e-16	2.08942e-16	0.018920	1	0
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76349447T>A	ENST00000263187.3	+	15	2152	c.2048T>A	c.(2047-2049)aTg>aAg	p.M683K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	683					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.M683K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGACCAAACATGAGTGGAAAA	0.343000								Mismatch excision repair (MMR)					8	18					0	0	0.006214	0	0
RIMS2	9699	broad.mit.edu	37	8	104987722	104987722	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:104987722C>T	ENST00000507740.1	+	13	2527	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L	RIMS2_ENST00000262231.10_Missense_Mutation_p.P811L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P750L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P972L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1034					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P764L(2)|p.P1039L(1)|p.P750L(1)|p.P972L(1)		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)			CCCAGTGTCCCTCCTCCACAA	0.413000										HNSCC(12;0.0054)			3	12					0	0	0.004672	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31744334G>C	ENST00000399889.2	-	1	223	c.198C>G	c.(196-198)tgC>tgG	p.C66W		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	5 X 10 AA approximate repeats.					intermediate filament		p.C66W(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGACGTCTGGCAGCTGGTGG	0.602000													13	41					0	0	0.016723	0	0
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:56138681G>T	ENST00000319441.4	+	6	1023	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A155S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	287					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A287S(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542000													38	88					3.21399e-22	4.42855e-22	0.021022	1	0
TAP2	6891	broad.mit.edu	37	6	32805830	32805830	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:32805830A>C	ENST00000374897.2	-	2	312	c.181T>G	c.(181-183)Ttt>Gtt	p.F61V	TAP2_ENST00000452392.2_Missense_Mutation_p.F61V|TAP2_ENST00000374899.4_Missense_Mutation_p.F61V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	61					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.F61V(2)									GTCCCCACAAATCCCAGCAGC	0.667000													17	85					0	0	0.028581	0	0
SDK2	54549	broad.mit.edu	37	17	71427711	71427711	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:71427711C>T	ENST00000392650.3	-	11	1410	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	SDK2_ENST00000388726.3_Silent_p.A470A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	470	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)|p.A470A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGTAGGTCCCCGCATCGGAGA	0.632000													54	178					0	0	0.014410	0	0
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86578265T>C	ENST00000370571.2	-	5	1950	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	COL24A1_ENST00000436319.1_Silent_p.G528G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	528	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.G528G(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCAGGTAATCCAGGTAAAC	0.388000													11	37					0	0	0.008291	0	0
EEPD1	80820	broad.mit.edu	37	7	36336752	36336752	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:36336752T>C	ENST00000242108.4	+	7	2184	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P	EEPD1_ENST00000534978.1_Missense_Mutation_p.L489P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	489					DNA repair		DNA binding	p.L489P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCGAAGTCTCTGGACAACATC	0.463000													3	23					0	0	0.009096	0	0
PCDH20	64881	broad.mit.edu	37	13	61989281	61989281	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:61989281C>T	ENST00000409186.1	-	4	2116	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PCDH20_ENST00000409204.4_Missense_Mutation_p.R4Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGCATTCCCTCGGCCGCGCAT	0.657000													4	1					0	0	0.009096	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762590	130762590	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:130762590C>A	ENST00000392429.1	+	2	3401	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	TMEM200A_ENST00000296978.3_Silent_p.V341V|TMEM200A_ENST00000545622.1_Silent_p.V341V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	341						integral to membrane		p.V341V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAGCCCGTCAGCACAGTGC	0.498000													6	40					5.9392e-07	6.81966e-07	0.021553	1	0
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35719611C>T	ENST00000314888.9	-	15	1945	c.1592G>A	c.(1591-1593)tGg>tAg	p.W531*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.W531*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	531					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.W531*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTACGCCAGGCCTTAGA	0.512000													15	65					0	0	0.020292	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1																						CCTTTGTGTCCCCTTTGGCTT	0.532000													11	10					0	0	0.010729	0	0
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219507065G>A	ENST00000411696.2	-	7	4953	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1392W			P52746	ZN142_HUMAN	zinc finger protein 142	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1229W(2)|p.R1392W(2)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCCCACCCGCTCCCGGGCA	0.637000													92	86					0	0	0.014410	0	0
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:54456044G>A	ENST00000296734.6	+	1	48	c.24G>A	c.(22-24)ccG>ccA	p.P8P	GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000515370.1_Silent_p.P8P|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000503787.1_Silent_p.P8P|CDC20B_ENST00000296733.1_Intron			Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGCTTACCCGCTAAAATGTT	0.443000													8	24					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56401663	56401663	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:56401663G>C	ENST00000370754.5	-	62	16590	c.16591C>G	c.(16591-16593)Cag>Gag	p.Q5531E	DST_ENST00000370769.4_Missense_Mutation_p.Q5353E|DST_ENST00000361203.3_Missense_Mutation_p.Q5351E|DST_ENST00000244364.6_Missense_Mutation_p.Q2939E|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3265E|DST_ENST00000446842.2_Missense_Mutation_p.Q5027E|DST_ENST00000421834.2_Missense_Mutation_p.Q3265E|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5351					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q5353E(1)|p.Q2939E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGCACTCTGAATAAGGCCT	0.423000													6	47					0	0	0.001984	0	0
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:151170615G>T	ENST00000394123.3	+	4	488	c.343G>T	c.(343-345)Gct>Tct	p.A115S	G3BP1_ENST00000356245.3_Missense_Mutation_p.A115S|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	115	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.A115S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTTTGTCCTTGCTCCTGAGGT	0.393000													8	32					5.18039e-06	5.84077e-06	0.003080	1	0
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:29600034C>T	ENST00000431530.3	+	1	1287	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	400						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S410F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACAGGGCTCTGCTTCCTTA	0.547000													5	14					0	0	0.014758	0	0
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:8888088C>G	ENST00000256707.3	-	25	3638	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000418530.1_Intron	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1153R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGCCGCCAGGGTAATAC	0.403000													6	9					0	0	0.003080	0	0
TTC40	54777	broad.mit.edu	37	10	134648922	134648922	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:134648922C>T	ENST00000368586.5	-	47	6730	c.6630G>A	c.(6628-6630)atG>atA	p.M2210I	TTC40_ENST00000263170.5_Missense_Mutation_p.M371I	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	371								p.M371I(1)|p.M2210I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCCAGACGCATCACCTTGC	0.632000													15	48					0	0	0.028581	0	0
SNX27	81609	broad.mit.edu	37	1	151641082	151641082	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:151641082G>A	ENST00000368843.3	+	7	1240	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SNX27_ENST00000368838.1_Missense_Mutation_p.D281N|SNX27_ENST00000458013.2_Missense_Mutation_p.D374N|SNX27_ENST00000482791.1_3'UTR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	374					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.D374N(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAATGACAATGACCTTGCTGT	0.363000													8	51					0	0	0.004482	0	0
MARCH1	55016	broad.mit.edu	37	4	164534557	164534557	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:164534557A>T	ENST00000339875.5	-	1	129	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	51	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L34M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGAAACAAGTTAGATAAT	0.438000													15	18					0	0	0.020292	0	0
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	C	A	rs148078245	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:86902971C>A	ENST00000376238.4	-	12	1321	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M355I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	424					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.M424I(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCCACTTTCCATTTTCATGG	0.458000													29	39					1.06801e-11	1.35599e-11	0.009535	1	0
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:44703735G>A	ENST00000339042.4	+	1	487	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A119A(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTGCCTTGCGTACCTCATGA	0.587000													14	46					0	0	0.024245	0	0
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:105515907C>G	ENST00000332180.5	+	10	764	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	226					endosome transport	WASH complex		p.S226C(2)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTACTGAAATCTGTCCATCAC	0.289000													9	17					0	0	0.004482	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64815843G>A	ENST00000358658.3	-	9	1240	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	NAALADL1_ENST00000340252.4_Missense_Mutation_p.R456C|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R364C|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R370C|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R405C	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	405	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R405C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATTGATCTGCGAGGACGCCAG	0.597000													14	44					0	0	0.020292	0	0
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:22363185C>A	ENST00000397121.2	-	3	1651	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G445V(2)		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)				GGGTTTCTCTCCAGCATGAAT	0.428000													17	42					1.15088e-07	1.35112e-07	0.028581	1	0
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113955199C>T	ENST00000245796.6	+	13	2640	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	PSD4_ENST00000441564.2_Silent_p.L787L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L815L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATGGTTCTCTACTTCCTGA	0.552000													22	48					0	0	0.012319	0	0
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50549823G>A	ENST00000595661.1	+	6	2618	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.G708E|ZNF473_ENST00000445728.3_Missense_Mutation_p.G696E|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G708E|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.G708E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AACGAATGCGGGAAAACGTTC	0.483000													15	66					0	0	0.024245	0	0
TRPC6	7225	broad.mit.edu	37	11	101375108	101375108	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:101375108G>T	ENST00000344327.3	-	2	1016	c.592C>A	c.(592-594)Cag>Aag	p.Q198K	TRPC6_ENST00000532133.1_Missense_Mutation_p.Q198K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q198K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	198					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.Q198K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTCAGACTGGCTAGGGCTG	0.468000													7	38					8.12818e-05	8.8297e-05	0.001984	1	0
WIPF1	7456	broad.mit.edu	37	2	175436880	175436880	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:175436880G>C	ENST00000392547.2	-	5	752	c.653C>G	c.(652-654)aCt>aGt	p.T218S	WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S|WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGGGGAGGAGTGGGCCCGGG	0.657000													10	99					0	0	0.010729	0	0
DSEL	92126	broad.mit.edu	37	18	65180123	65180123	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:65180123G>A	ENST00000310045.7	-	2	3226	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	575						integral to membrane	isomerase activity|sulfotransferase activity	p.L585F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAATTTAAGAGAAGCAAAGCA	0.403000													4	36					0	0	0.014758	0	0
TRPT1	83707	broad.mit.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:63991664C>G	ENST00000394546.2	-	7	797	c.584G>C	c.(583-585)cGc>cCc	p.R195P	TRPT1_ENST00000317459.6_Missense_Mutation_p.R193P|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144P|TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000546089.1_Intron	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193							tRNA 2'-phosphotransferase activity	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567000													12	67					0	0	0.013537	0	0
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:148846478G>T	ENST00000367467.3	+	11	1736	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421							protein binding	p.G421C(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTGCACGTTGGCAGTAATAA	0.423000													42	54					4.62893e-10	5.68412e-10	0.013114	1	0
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15760843C>T	ENST00000378076.3	-	2	618	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	89					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E89K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCCCCCTTCCACGATATCG	0.567000													21	97					0	0	0.014323	0	0
VEZF1	7716	broad.mit.edu	37	17	56058018	56058018	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:56058018G>C	ENST00000584396.1	-	4	983	c.895C>G	c.(895-897)Cat>Gat	p.H299D	VEZF1_ENST00000581208.1_Missense_Mutation_p.H308D			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H308D(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTCTGCCCATGAGTCTTTAAG	0.443000													8	54					0	0	0.006214	0	0
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:97605318C>T	ENST00000371203.5	+	5	951	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q260*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					cell adhesion	integral to plasma membrane	ATP binding	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502000													14	67					0	0	0.016723	0	0
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:3541497C>G	ENST00000262919.5	+	8	1460	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	ATRN_ENST00000446916.2_Missense_Mutation_p.I464M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	464					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.I464M(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTTTGGTCACT	0.443000													13	48					0	0	0.013537	0	0
C20orf194	25943	broad.mit.edu	37	20	3262307	3262307	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:3262307C>T	ENST00000252032.9	-	28	2659	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	864								p.M864I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTAGCAGCTCATGGGCTCCA	0.483000													8	60					0	0	0.003080	0	0
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F|ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000218758.5_Missense_Mutation_p.S118F	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572000													18	89					0	0	0.007413	0	0
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:98807550C>T	ENST00000266058.4	-	16	1776	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V511M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	511	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V511M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGACAGACCACGTCGCTGTTG	0.647000													31	55					0	0	0.007291	0	0
EGFR	1956	broad.mit.edu	37	7	55259501	55259501	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55259501C>T	ENST00000275493.2	+	21	2736	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.I800I|EGFR_ENST00000455089.1_Silent_p.I808I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	853	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I853I(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGTCAAGATCACAGATTTTG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	64					0	0	0.001984	0	0
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58477469G>C	ENST00000344743.3	-	6	802	c.661C>G	c.(661-663)Cta>Gta	p.L221V	GLYAT_ENST00000529732.1_Missense_Mutation_p.L221V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	221					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.L221V(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTCCATTAGATCCCAGCAC	0.552000													18	52					0	0	0.007413	0	0
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15138469G>A	ENST00000378207.3	-	2	628	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	119						integral to membrane		p.L119F(2)		lung(5)|upper_aerodigestive_tract(1)	6						GCGGGGAGAAGGAGGAGGCTC	0.478000													23	28					0	0	0.014323	0	0
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:237753224A>G	ENST00000366574.2	+	30	4047	c.3730A>G	c.(3730-3732)Aac>Gac	p.N1244D	RYR2_ENST00000360064.6_Missense_Mutation_p.N1242D|RYR2_ENST00000542537.1_Missense_Mutation_p.N1228D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1244	4 X approximate repeats.				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.N1242D(2)		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)			CGTTAATACAAACAGGGATAT	0.398000													16	25					0	0	0.028581	0	0
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31011704C>T	ENST00000409316.1	+	4	481	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GHRHR_ENST00000326139.2_Silent_p.F197F|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.F133F			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	235					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.F197F(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACTGCAGCTTCTCCACTGTAA	0.582000													10	29					0	0	0.008291	0	0
TRAV24	28659	broad.mit.edu	37	14	22573837	22573837	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22573837C>G	ENST00000390453.1	+	0	57																											AAAAAACAGGCGTGAGCAGCA	0.438000													6	7					0	0	0.021553	0	0
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:46620584G>C	ENST00000296145.5	+	2	768		c.e2-1		TDGF1_ENST00000542931.1_Splice_Site|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.?(2)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTCTTCCTAGTGTGATTTGG	0.413000													17	56					0	0	0.006122	0	0
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	G	T	rs115610738	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:74682559G>T	ENST00000233331.7	+	2	179	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.G29C	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	29					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G16C(2)|p.G29C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGCCTGGCGGGTGCCCATGG	0.562000													14	58					0.000151284	0.000163123	0.016723	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:46032130G>T	ENST00000334662.2	+	1	135	c.113G>T	c.(112-114)gGc>gTc	p.G38V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.G38V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTGCACTGGCTCCTCCTGG	0.637000													22	53					3.62473e-10	4.46357e-10	0.012319	1	0
ANKHD1	54882	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:139909060G>T	ENST00000297183.6	+	29	6653	c.6529G>T	c.(6529-6531)Gtg>Ttg	p.V2177L	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V2177L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.V560L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.V2177L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.V2177L(4)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCTGCAGTGCAGCTTTC	0.443000													24	96					5.35356e-11	6.73828e-11	0.016522	1	0
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:1483437T>C	ENST00000300954.5	-	12	1478	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	473					proteolysis	integral to membrane	serine-type endopeptidase activity	p.R473G(2)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTTTCCCTGATGTAGATC	0.701000													28	22					0	0	0.019004	0	0
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:21214028T>C	ENST00000592179.1	-	5	570	c.416A>G	c.(415-417)cAt>cGt	p.H139R	ANKRD29_ENST00000284207.7_Missense_Mutation_p.H139R|ANKRD29_ENST00000322980.9_Missense_Mutation_p.H139R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139								p.H139R(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTGGTCATGGATGTTTGC	0.493000													9	31					0	0	0.006214	0	0
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:135288688G>C	ENST00000543669.1	+	2	808	c.97G>C	c.(97-99)Gac>Cac	p.D33H	FHL1_ENST00000394155.2_Missense_Mutation_p.D33H|FHL1_ENST00000370676.3_Missense_Mutation_p.D49H|FHL1_ENST00000345434.3_Missense_Mutation_p.D33H|FHL1_ENST00000539015.1_Missense_Mutation_p.D62H|FHL1_ENST00000535737.1_Missense_Mutation_p.D33H|FHL1_ENST00000370690.3_Missense_Mutation_p.D33H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.D49H|FHL1_ENST00000394153.2_Missense_Mutation_p.D33H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	33					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.D33H(4)|p.D62H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GAAATGCTTTGACAAGTTCTG	0.557000													57	126					0	0	0.014410	0	0
PGBD2	267002	broad.mit.edu	37	1	249210873	249210873	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:249210873G>T	ENST00000539153.1	+	4	336	c.81G>T	c.(79-81)atG>atT	p.M27I	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.M30I|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30								p.M30I(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAATGCTATGGAGGAGGAAG	0.478000													7	36					0.00307968	0.00321475	0.003080	1	0
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:76372111C>A	ENST00000407242.2	-	3	768	c.526G>T	c.(526-528)Gag>Tag	p.E176*	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E176*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E176*	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176						integral to plasma membrane		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637000													14	60					1.56452e-12	2.00978e-12	0.007413	1	0
KLHL28	54813	broad.mit.edu	37	14	45415050	45415050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:45415050G>C	ENST00000396128.4	-	2	201	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433000													3	30					0	0	0.004672	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149001437A>T	ENST00000333677.6	+	9	1310	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	383	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S383C(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGGTGGGCAGTGTGACCTA	0.592000													21	52					0	0	0.016522	0	0
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155615825A>G	ENST00000496455.1	+	3	654	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.M107V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGCTATGGTATGCAGGTATG	0.363000			T	MLL	AML								22	93					0	0	0.014323	0	0
VWA5A	4013	broad.mit.edu	37	11	123988412	123988412	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:123988412A>T	ENST00000456829.2	+	4	327	c.76A>T	c.(76-78)Att>Ttt	p.I26F	VWA5A_ENST00000392748.1_Missense_Mutation_p.I26F|VWA5A_ENST00000360334.4_Missense_Mutation_p.I26F|VWA5A_ENST00000361352.5_Missense_Mutation_p.I26F|VWA5A_ENST00000449321.1_Missense_Mutation_p.I26F|VWA5A_ENST00000392744.4_Missense_Mutation_p.I42F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	26	VIT.							p.I26F(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAGCGTGAACATTTACGAGTT	0.458000													13	30					0	0	0.028581	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285753	85285753	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:85285753T>C	ENST00000450363.3	-	2	605	c.147A>G	c.(145-147)acA>acG	p.T49T	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.T49T	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCAACATCTGTATCTTTCT	0.403000													7	70					0	0	0.001984	0	0
TPSD1	23430	broad.mit.edu	37	16	1306299	1306299	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:1306299C>A	ENST00000211076.3	+	1	166	c.18C>A	c.(16-18)ccC>ccA	p.P6P	TPSD1_ENST00000397534.2_Intron	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	6					proteolysis	extracellular region	serine-type endopeptidase activity	p.P6P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TCCTTGCTCCCCAGATGCTGA	0.711000													22	72					7.87624e-14	1.031e-13	0.016522	1	0
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:34295058T>C	ENST00000361162.6	-	14	1657	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	RBM39_ENST00000253363.6_Missense_Mutation_p.M431V|RBM39_ENST00000528062.3_Missense_Mutation_p.M409V|RBM39_ENST00000407261.4_Missense_Mutation_p.M274V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	431	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.M431V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGGTTAAACATGTTAGAGAGT	0.323000													5	12					0	0	0.014758	0	0
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:36699915C>G	ENST00000255448.4	-	2	571	c.360G>C	c.(358-360)ctG>ctC	p.L120L	DCLK1_ENST00000379892.4_Silent_p.L120L|DCLK1_ENST00000360631.3_Silent_p.L120L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.L120L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTGGTCCAGGCTGGAAA	0.522000													13	34					0	0	0.016723	0	0
WNT9A	7483	broad.mit.edu	37	1	228109549	228109549	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:228109549G>A	ENST00000272164.5	-	4	778	c.768C>T	c.(766-768)acC>acT	p.T256T	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	256					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CTTCATTGGTGGTGCTGCCCA	0.672000													13	94					0	0	0.016723	0	0
TNNI2	7136	broad.mit.edu	37	11	1862435	1862435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:1862435A>T	ENST00000381906.1	+	7	520	c.451A>T	c.(451-453)Aag>Tag	p.K151*	TNNI2_ENST00000252898.7_Nonsense_Mutation_p.K151*|TNNI2_ENST00000381905.3_Nonsense_Mutation_p.K151*|TNNI2_ENST00000381911.1_Nonsense_Mutation_p.K151*	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	151					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	p.K151*(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGACACAGAGAAGGTGCGTGC	0.667000													8	25					0	0	0.006214	0	0
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:150912332C>A	ENST00000329903.4	+	6	1390	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R453S(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAAGTGCGCATCTTCCA	0.507000													13	37					9.31168e-06	1.04269e-05	0.016723	1	0
HDC	3067	broad.mit.edu	37	15	50534774	50534774	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50534774G>T	ENST00000267845.3	-	12	2074	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	HDC_ENST00000543581.1_Missense_Mutation_p.P525T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	558					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTGGCATCTGGGGCCTCTTCT	0.547000													47	99					3.54909e-21	4.87488e-21	0.011902	1	0
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:63543950C>T	ENST00000299178.2	-	1	772	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G223S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACAAAGATGCCGCCCGTCATC	0.617000													24	129					0	0	0.018920	0	0
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:117228579G>A	ENST00000362057.3	-	3	1099	c.931C>T	c.(931-933)Cca>Tca	p.P311S	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	311	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.P311S(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGCCTGGGTCCACGCCA	0.602000													34	50					0	0	0.015359	0	0
ASIP	434	broad.mit.edu	37	20	32848288	32848288	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32848288G>A	ENST00000568305.1	+	2	310	c.108G>A	c.(106-108)ctG>ctA	p.L36L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L36L			P42127	ASIP_HUMAN	agouti signaling protein	36					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.L36L(1)		central_nervous_system(1)|lung(2)	3						ACAGGAGCCTGAGAAGCAACT	0.582000													16	106					0	0	0.004990	0	0
SLC7A6	9057	broad.mit.edu	37	16	68309111	68309111	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:68309111C>A	ENST00000566454.1	+	4	751	c.482C>A	c.(481-483)cCc>cAc	p.P161H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P161H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	161					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	p.P161H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCTGTGATCCCCCATACCTG	0.572000													17	88					7.07596e-05	7.71869e-05	0.006122	1	0
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:48805800T>G	ENST00000316623.5	-	13	1989	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	512	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.T512P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGACAGGTGTACGAACCC	0.473000													7	31					0	0	0.003080	0	0
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:72409924G>A	ENST00000395270.1	+	10	1663	c.622G>A	c.(622-624)Gac>Aac	p.D208N	POM121_ENST00000434423.2_Missense_Mutation_p.D473N|POM121_ENST00000446813.1_Missense_Mutation_p.D208N|POM121_ENST00000358357.3_Missense_Mutation_p.D208N|POM121_ENST00000257622.4_Missense_Mutation_p.D208N	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	473	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.D208N(4)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTGGCAGCAGACAGGGAGTC	0.488000													6	11					0	0	0.004482	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540407	115540407	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:115540407A>G	ENST00000354462.3	+	6	622	c.464A>G	c.(463-465)cAt>cGt	p.H155R	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H239R|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H323R|PLEKHS1_ENST00000361048.1_3'UTR					pleckstrin homology domain containing, family S member 1									p.H323R(1)									GAGACATTCCATGCTGCATCC	0.423000													6	29					0	0	0.021553	0	0
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:94544950C>A	ENST00000370225.3	-	9	1253	c.1167G>T	c.(1165-1167)gcG>gcT	p.A389A	ABCA4_ENST00000535735.1_Silent_p.A389A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	389					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A389A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGCTTTGCCGCCCTCCAAG	0.473000													20	36					5.35267e-07	6.16782e-07	0.007413	1	0
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:232894773C>T	ENST00000325385.7	+	5	625	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117S|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117S|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117S|DIS3L2_ENST00000409307.1_Missense_Mutation_p.P117S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	117							exonuclease activity|ribonuclease activity|RNA binding	p.P117S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAAACTGCTTCCCGAGGAGCA	0.428000													26	20					0	0	0.018920	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30784777C>G	ENST00000246229.4	-	3	1233	c.969G>C	c.(967-969)atG>atC	p.M323I		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M323I(2)		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)			GAGGGTAGCTCATACCCATGG	0.567000													39	148					0	0	0.023175	0	0
TREX1	11277	broad.mit.edu	37	3	48508518	48508518	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:48508518G>C	ENST00000296443.9	+	3	1351	c.464G>C	c.(463-465)aGc>aCc	p.S155T	TREX1_ENST00000444177.1_Missense_Mutation_p.S145T|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.S155T|TREX1_ENST00000433541.1_Missense_Mutation_p.S16T|TREX1_ENST00000456089.1_Missense_Mutation_p.S16T|TREX1_ENST00000422277.2_Missense_Mutation_p.S210T			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	210					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTGTGGATAGCATCACTGCG	0.602000													10	63					0	0	0.006214	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302615	87302615	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:87302615T>C	ENST00000263780.4	+	5	724	c.486T>C	c.(484-486)atT>atC	p.I162I	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.I121I|CHMP2B_ENST00000494980.1_Silent_p.I132I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	162					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.I162I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCCAGGATATTGTGAATCAAG	0.378000													3	18					0	0	0.004672	0	0
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:85863297C>T	ENST00000304195.3	-	14	1536	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	FRMD3_ENST00000328788.1_Missense_Mutation_p.E101K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.E444K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E250K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E444K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TACACTAGTTCAGAGATGGTT	0.493000													20	40					0	0	0.007413	0	0
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:21698923A>T	ENST00000388958.3	+	7	590	c.589A>T	c.(589-591)Aca>Tca	p.T197S	OTOA_ENST00000388956.4_Missense_Mutation_p.T118S|OTOA_ENST00000286149.4_Missense_Mutation_p.T197S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	197					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.T197S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGACATCACAGAGCGGCT	0.527000													10	42					0	0	0.008291	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:103106399A>T	ENST00000375735.2	+	62	9711		c.e62-1		DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTTCCAGGTTGTAGAG	0.373000													4	4					0	0	0.009096	0	0
PRKCG	5582	broad.mit.edu	37	19	54403931	54403931	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:54403931G>T	ENST00000263431.3	+	14	1785	c.1503G>T	c.(1501-1503)atG>atT	p.M501I	PRKCG_ENST00000540413.1_Missense_Mutation_p.M501I|PRKCG_ENST00000542049.1_Missense_Mutation_p.M388I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	501	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.M501I(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTTTGGCATGTGTAAGGAGA	0.587000													116	240					1.68005e-69	2.40086e-69	0.014410	1	0
SIRT1	23411	broad.mit.edu	37	10	69651262	69651262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:69651262G>C	ENST00000212015.6	+	4	945	c.892G>C	c.(892-894)Gat>Cat	p.D298H	SIRT1_ENST00000432464.1_Missense_Mutation_p.D3H|SIRT1_ENST00000406900.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	298	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	p.D298H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCGATGTTTGATATTGAATA	0.403000													22	128					0	0	0.014323	0	0
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:18550453C>A	ENST00000399799.1	-	23	3616	c.2676G>T	c.(2674-2676)ttG>ttT	p.L892F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	892	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L892F(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCTAGATCCAACTGAGTAG	0.378000													9	17					0.000442599	0.000472563	0.006214	1	0
ZNF831	128611	broad.mit.edu	37	20	57768421	57768421	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:57768421C>G	ENST00000371030.2	+	1	2347	c.2347C>G	c.(2347-2349)Ccc>Gcc	p.P783A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	783						intracellular	nucleic acid binding|zinc ion binding	p.P783A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGGCCGGACCCCAAGCTGGA	0.657000													15	32					0	0	0.024245	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696877	205696877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:205696877G>A	ENST00000367142.4	-	3	426	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	42						nucleus		p.R42*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTAGCTTCTCGGGGAGATGAT	0.378000													6	38					0	0	0.021553	0	0
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:65357812G>A	ENST00000373758.4	+	4	394	c.211G>A	c.(211-213)Gct>Act	p.A71T	REEP3_ENST00000298249.4_Missense_Mutation_p.A56T	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71						integral to membrane		p.A71T(2)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAGATTGCTTTTGTCAT	0.348000													15	36					0	0	0.028581	0	0
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	T	C	rs141436878		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:76111922T>C	ENST00000324432.5	+	5	876	c.366T>C	c.(364-366)acT>acC	p.T122T	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Silent_p.T122T|DTX2_ENST00000446820.2_Silent_p.T122T|DTX2_ENST00000446600.1_Silent_p.T31T|DTX2_ENST00000430490.2_Silent_p.T122T|DTX2_ENST00000307569.8_Silent_p.T122T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	122	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.T122T(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTCCTGGACTGCCTATGAAG	0.632000													35	45					0	0	0.013726	0	0
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11917571A>T	ENST00000323169.5	+	3	1134	c.803A>T	c.(802-804)gAg>gTg	p.E268V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E268V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACACTGGAGAGAGGCCTCAT	0.413000													24	23					0	0	0.021523	0	0
DPP4	1803	broad.mit.edu	37	2	162876803	162876803	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:162876803A>T	ENST00000360534.3	-	14	1740	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	394					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.C394S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAAATGTGCAGTCCTGATGG	0.323000													3	37					0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:36675196G>T	ENST00000399881.3	+	10	1061	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V342L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACATCACTGTGGACAGTGT	0.458000													19	24					2.4624e-09	3.0096e-09	0.008871	1	0
ZFP2	80108	broad.mit.edu	37	5	178358866	178358866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178358866A>G	ENST00000361362.2	+	5	1082	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZFP2_ENST00000520301.1_Silent_p.K184K|ZFP2_ENST00000503510.2_Silent_p.K184K|ZFP2_ENST00000523286.1_Silent_p.K184K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K184K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCGGAGAGAAACCCTATCAGT	0.398000													3	23					0	0	0.014758	0	0
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:46094344C>A	ENST00000323040.4	-	2	1725	c.781G>T	c.(781-783)Gag>Tag	p.E261*	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637000													29	49					9.39395e-14	1.22599e-13	0.006320	1	0
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:234593467G>A	ENST00000040877.1	-	9	1667	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L556L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAGACATGAGAAAAGTTG	0.328000													17	14					0	0	0.010504	0	0
LRP1B	53353	broad.mit.edu	37	2	141773472	141773472	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:141773472C>G	ENST00000389484.3	-	13	2954	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	661					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W661C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTCTGTCCAATACATCC	0.403000										TSP Lung(27;0.18)			9	57					0	0	0.004482	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:14710889C>G	ENST00000547437.1	+	12	866	c.789C>G	c.(787-789)ggC>ggG	p.G263G	CLEC17A_ENST00000397439.2_Silent_p.G246G|CLEC17A_ENST00000417570.1_Silent_p.G263G	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	p.G263G(2)									CCTTTGAGGGCAAGTGTTACT	0.532000													14	34					0	0	0.028581	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51994903G>T	ENST00000291707.3	-	8	1835	c.1780C>A	c.(1780-1782)Ccc>Acc	p.P594T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P476T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	594					cell adhesion	integral to membrane	sugar binding	p.P594T(2)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTCACTTGGGGATGTTGATC	0.532000													38	71					6.2361e-21	8.53877e-21	0.007835	1	0
ZNF280B	140883	broad.mit.edu	37	22	22842568	22842568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22842568G>A	ENST00000360412.2	-	4	1931	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF280B_ENST00000406426.1_Nonsense_Mutation_p.Q386*	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q386*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAGAGGACCTGATCTGTTTCA	0.468000													14	83					0	0	0.020292	0	0
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:69758130C>G	ENST00000370598.1	+	14	2982	c.2161C>G	c.(2161-2163)Cca>Gca	p.P721A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAACTTTCCAATGAAAGG	0.363000													15	6					0	0	0.028581	0	0
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:82336941T>A	ENST00000329713.4	-	2	705	c.270A>T	c.(268-270)aaA>aaT	p.K90N	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	90	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.K90N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCCGCAGCGCTTTGATTTTAC	0.597000													14	35					0	0	0.020292	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:55024197A>G	ENST00000324000.3	+	3	2390	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	119					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N119S(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACCAAGAATAGTGTTCGG	0.333000													10	30					0	0	0.006214	0	0
MOB4	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198400314G>A	ENST00000323303.4	+	3	439	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MOB4_ENST00000497443.1_Intron|MOB4_ENST00000604458.1_Missense_Mutation_p.E98K|MOB4_ENST00000233892.4_Missense_Mutation_p.E30K|MOB4_ENST00000409360.1_Missense_Mutation_p.E30K|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.E41K	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein									p.E62K(2)									TGAACCACCTGAAGGCCAAGA	0.318000													50	46					0	0	0.014410	0	0
ABCA9	10350	broad.mit.edu	37	17	67012515	67012515	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:67012515A>T	ENST00000340001.4	-	22	3129	c.2918T>A	c.(2917-2919)aTa>aAa	p.I973K	ABCA9_ENST00000370732.2_Missense_Mutation_p.I973K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I973K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	973					transport	integral to membrane	ATP binding|ATPase activity	p.I973K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTACATGCTATTGAAAATCT	0.343000													4	32					0	0	0.009096	0	0
TENM4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:78412823T>C	ENST00000278550.7	-	28	5297	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.Y1612C(4)									GTCCCCAGTGTAGGTGAAGTT	0.537000													29	106					0	0	0.007291	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94936017C>A	ENST00000337425.5	-	2	289	c.215G>T	c.(214-216)cGc>cTc	p.R72L	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R54L|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	54					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.R72L(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGGTATAGGCGGAAGGCAAA	0.607000													18	50					2.94398e-08	3.51934e-08	0.007413	1	0
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:121738051G>C	ENST00000264808.3	-	6	919	c.679C>G	c.(679-681)Cta>Gta	p.L227V	PRDM5_ENST00000428209.2_Intron|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L227V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACTCCTTTAGACTGCTTTTC	0.368000													14	49					0	0	0.024245	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162092	90162092	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:90162092G>A	ENST00000567960.1	+	0	828				TUBB8P7_ENST00000564451.1_RNA														p.R275Q(1)									CTGACCAGCCGGGGCAGCCAG	0.622000													9	46					0	0	0.020292	0	0
ZP4	57829	broad.mit.edu	37	1	238050702	238050702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:238050702G>A	ENST00000366570.4	-	5	871	c.713C>T	c.(712-714)cCa>cTa	p.P238L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	238	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P238L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAAGTAAATGGAAACTGGAA	0.522000													14	92					0	0	0.004990	0	0
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:86868907G>C	ENST00000373119.4	+	2	595	c.450G>C	c.(448-450)atG>atC	p.M150I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M150I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	150						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M150I(4)		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						CTGAAGACATGAATGCCACCA	0.338000													5	9					0	0	0.021553	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:107298654C>A	ENST00000374781.2	-	1	483	c.441G>T	c.(439-441)atG>atT	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000													29	48					2.61193e-14	3.43275e-14	0.009535	1	0
ACSM2A	123876	broad.mit.edu	37	16	20486733	20486733	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:20486733A>C	ENST00000573854.1	+	7	1058	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	ACSM2A_ENST00000575690.1_Missense_Mutation_p.Y315S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Y236S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Y315S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Y315S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Y87S|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.Y315S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCATTGTTTACCGGATGTTG	0.507000													8	45					0	0	0.004482	0	0
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160164856G>C	ENST00000368079.3	+	4	777	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.E174Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	174						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.E168Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCGTTTGAGAATATTGA	0.493000													34	17					0	0	0.015359	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62751918G>T	ENST00000377871.3	-	1	511	c.245C>A	c.(244-246)aCc>aAc	p.T82N	SLC22A6_ENST00000458333.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000421062.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T82N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	82					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.T82N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCGGGGAGGTGAAGCGGAG	0.662000													23	93					1.9806e-07	2.31897e-07	0.014323	1	0
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:84399443C>A	ENST00000260505.8	-	9	1272	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.V299L(2)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTCTTTACCACCAATTCCTAT	0.443000													10	29					3.07112e-06	3.47759e-06	0.010729	1	0
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:69456155A>C	ENST00000227507.2	+	1	301	c.74A>C	c.(73-75)gAc>gCc	p.D25A	CCND1_ENST00000536559.1_Missense_Mutation_p.D25A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	25					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.D25A(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTCCTCAACGACCGGGTGCTG	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			30	116					0	0	0.008361	0	0
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:70406705A>G	ENST00000373644.4	+	4	4428	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1407					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.T1407A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTAACCCTACAAAAAACCT	0.388000													9	32					0	0	0.006214	0	0
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:22211041T>C	ENST00000374695.3	-	13	1713	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	545	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.D545G(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCGGGTTGGTCAAAGCGCAG	0.662000													36	138					0	0	0.027894	0	0
NCK2	8440	broad.mit.edu	37	2	106498084	106498084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:106498084C>G	ENST00000233154.4	+	4	969	c.527C>G	c.(526-528)tCc>tGc	p.S176C	NCK2_ENST00000393349.2_Missense_Mutation_p.S176C|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	176					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.S176C(1)		endometrium(1)|lung(3)|ovary(1)	5						GCTGCGGAGTCCCCAAGCTTC	0.657000													7	92					0	0	0.001984	0	0
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:35804479G>T	ENST00000216122.4	+	6	829	c.675G>T	c.(673-675)caG>caT	p.Q225H	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.Q182H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q225H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTCCAGACCCTGAAGC	0.582000													18	44					0.000566183	0.000604021	0.004990	1	0
PIWIL4	143689	broad.mit.edu	37	11	94330994	94330994	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:94330994A>G	ENST00000299001.6	+	11	1504	c.1293A>G	c.(1291-1293)ctA>ctG	p.L431L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.L431L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTTTGAACTAGAGACCTGGG	0.383000													10	15					0	0	0.008291	0	0
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:43292056G>T	ENST00000374518.4	+	10	1427	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	455					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.G455V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGATGACGGGTTGGAAAAC	0.438000													7	29					0.00198382	0.00207745	0.001984	1	0
MFSD11	79157	broad.mit.edu	37	17	74740468	74740468	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:74740468C>T	ENST00000588460.1	+	7	2603	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MFSD11_ENST00000590514.1_Silent_p.F187F|MFSD11_ENST00000355954.3_Silent_p.F135F|MFSD11_ENST00000336509.4_Silent_p.F187F|MFSD11_ENST00000593181.1_Silent_p.F135F|MFSD11_ENST00000586622.1_Silent_p.F187F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	187						integral to membrane		p.F187F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGTTCTATTCTTTCTCATTC	0.418000													11	64					0	0	0.008291	0	0
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76211508C>T	ENST00000298832.9	+	16	1557	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TTLL5_ENST00000557636.1_Missense_Mutation_p.P465L|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_5'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.P451L(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGAAAGGGCCAGGGAAGTTG	0.453000													18	28					0	0	0.007413	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247065962C>T	ENST00000366508.1	-	8	1223	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E328K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E337K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	328	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E328K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATCTTTCTTCACAGTATTCT	0.368000													15	66					0	0	0.028581	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:116949479C>T	ENST00000229554.5	+	3	1746	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.L537L	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	537	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.L537L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGATTGATCTAGTAGAATC	0.428000									Kartagener syndrome				13	49					0	0	0.020292	0	0
KIF16B	55614	broad.mit.edu	37	20	16348016	16348016	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:16348016C>G	ENST00000408042.1	-	23	4111	c.3954G>C	c.(3952-3954)aaG>aaC	p.K1318N	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K1318N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACATTTTTCTTTTCTGGAA	0.433000													28	131					0	0	0.024334	0	0
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:30649288C>A	ENST00000389266.3	+	7	1064	c.823C>A	c.(823-825)Cca>Aca	p.P275T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.P275T(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCTATCCCCTCCAGTGTCTTT	0.358000													13	26					0.00010058	0.000108809	0.013537	1	0
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:71039605C>A	ENST00000272367.2	-	5	1589	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A505S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	505	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.A505S(2)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCACAGATGCCAGATGGGCT	0.512000													39	34					4.0492e-12	5.17617e-12	0.027894	1	0
KIAA0141	9812	broad.mit.edu	37	5	141318258	141318258	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:141318258C>T	ENST00000432126.2	+	12	1616	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KIAA0141_ENST00000194118.4_Silent_p.S494S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	494					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.S494S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGCCTCCAGCAGGGCTA	0.567000													10	97					0	0	0.008291	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:64536211C>T	ENST00000355086.3	+	22	3541	c.3017C>T	c.(3016-3018)aCg>aTg	p.T1006M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.T983M|SRGAP1_ENST00000543397.1_Missense_Mutation_p.T943M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance	cytosol		p.T1006M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCACTTCCACGGAATCTCTC	0.552000													17	36					0	0	0.028581	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503611	32503611	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:32503611C>A	ENST00000327300.7	+	6	1248	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P322T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	361	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P361T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCTCCACCTCCTGCACCAGA	0.527000													16	100					3.41278e-10	4.21049e-10	0.004990	1	0
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18313334C>T	ENST00000396253.3	-	15	2215	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	HPS5_ENST00000438420.2_Missense_Mutation_p.E585K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E699K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	699						cytosol		p.E699K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGATTCTTCATTGCCTAAA	0.363000									Hermansky-Pudlak syndrome				14	41					0	0	0.016723	0	0
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:21235014C>A	ENST00000233242.1	-	26	4853	c.4726G>T	c.(4726-4728)Ggg>Tgg	p.G1576W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1576W(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATACTTCCCATTGGTGTCA	0.413000													21	34					1.37657e-19	1.8731e-19	0.012319	1	0
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:107816974A>T	ENST00000379028.3	-	27	3522	c.3052T>A	c.(3052-3054)Tta>Ata	p.L1018I	NRCAM_ENST00000413765.2_Missense_Mutation_p.L999I|NRCAM_ENST00000425651.2_Missense_Mutation_p.L1018I|NRCAM_ENST00000379024.4_Missense_Mutation_p.L999I|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1002I|NRCAM_ENST00000379022.4_Missense_Mutation_p.L1018I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1018	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.L1002I(2)|p.L1018I(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGAAATTTAAATTTTTTAAA	0.363000													23	18					0	0	0.014323	0	0
ACBD3	64746	broad.mit.edu	37	1	226340111	226340111	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:226340111C>G	ENST00000366812.5	-	7	1354	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	434	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.E434Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCTGTCCATTCAAAATACACC	0.468000													4	132					0	0	0.009096	0	0
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:44503035G>T	ENST00000260649.6	+	1	437	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC3A1_ENST00000409387.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G121W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	121					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.G121W(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTGGCAGGAGGGGCCCATGTA	0.542000													42	57					1.00001e-27	1.40452e-27	0.009718	1	0
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:26242238C>G	ENST00000335473.7	+	19	3790	c.3540C>G	c.(3538-3540)atC>atG	p.I1180M	MYO18B_ENST00000407587.2_Missense_Mutation_p.I1181M|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617000													21	29					0	0	0.010504	0	0
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247695646G>T	ENST00000366487.3	-	2	529	c.168C>A	c.(166-168)ctC>ctA	p.L56L	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493000													45	45					2.47872e-24	3.44443e-24	0.010771	1	0
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:22040786G>T	ENST00000256906.4	+	1	194	c.94G>T	c.(94-96)Gga>Tga	p.G32*	HRH4_ENST00000426880.2_Nonsense_Mutation_p.G32*	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	32						integral to membrane|plasma membrane	histamine receptor activity	p.G32*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATAATGCTAGGAAATGCTTT	0.353000													25	46					1.85244e-09	2.26833e-09	0.018920	1	0
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:14077445C>T	ENST00000254325.4	-	13	2085	c.1851_splice	c.e13+1	p.E617_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	617					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E617E(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCACCCTACCTCACAGTGTT	0.677000													26	39					0	0	0.027356	0	0
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:1418261A>G	ENST00000345913.4	+	2	172	c.81A>G	c.(79-81)aaA>aaG	p.K27K	TPO_ENST00000337415.3_Silent_p.K27K|TPO_ENST00000382269.3_Silent_p.K27K|TPO_ENST00000539820.1_Silent_p.K27K|TPO_ENST00000346956.3_Silent_p.K27K|TPO_ENST00000329066.4_Silent_p.K27K|TPO_ENST00000382201.3_Silent_p.K27K|TPO_ENST00000349624.3_Silent_p.K27K|TPO_ENST00000382198.1_Silent_p.K27K|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	27					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.K27K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGAGAGGGAAAGAACTCCTTT	0.458000													15	13					0	0	0.006122	0	0
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50555455T>A	ENST00000267845.3	-	2	583	c.181A>T	c.(181-183)Att>Ttt	p.I61F	HDC_ENST00000543581.1_Missense_Mutation_p.I61F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	61					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.I61F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATTCGTTCAATGTCCCCAAAG	0.597000													46	123					0	0	0.011902	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603514	111603514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:111603514G>A	ENST00000431670.2	+	2	1001	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PHLDB2_ENST00000481953.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G197E|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G224E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	197						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G197E(2)|p.G224E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCAGATCGGGAGCCGCAAGC	0.567000													6	30					0	0	0.021553	0	0
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:26155990G>T	ENST00000381655.2	+	23	2183	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D641Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	641					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D681Y(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATAGAAGATCGCCTTCA	0.393000													18	28					3.52763e-06	3.99107e-06	0.004990	1	0
NECAB3	63941	broad.mit.edu	37	20	32248157	32248157	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32248157G>C	ENST00000246190.6	-	6	487	c.432C>G	c.(430-432)ttC>ttG	p.F144L	NECAB3_ENST00000375238.4_Missense_Mutation_p.F144L|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	144					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						CCCGCAGCAGGAAGCGCGTCA	0.637000													9	87					0	0	0.004482	0	0
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:145537160C>A	ENST00000394434.2	-	10	1037	c.871G>T	c.(871-873)Gct>Tct	p.A291S	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.A264S|LARS_ENST00000510191.1_Missense_Mutation_p.A237S|LARS_ENST00000545646.1_Missense_Mutation_p.A245S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.A291S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGAGTAGCAGCCACCAAGAAA	0.373000													6	21					3.59834e-05	3.96817e-05	0.021553	1	0
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65793536G>C	ENST00000312106.5	-	1	452	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	105	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V105V(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGAGGGGACGGCGCCTT	0.607000													42	103					0	0	0.010771	0	0
ZNF682	91120	broad.mit.edu	37	19	20118030	20118030	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:20118030G>A	ENST00000397165.2	-	4	441	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF682_ENST00000397162.1_Missense_Mutation_p.S62L|ZNF682_ENST00000595736.1_Missense_Mutation_p.S18L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000358523.5_Missense_Mutation_p.S62L|ZNF682_ENST00000597972.1_Missense_Mutation_p.S100L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S94L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTTTGGAATGAATCTTGCAT	0.368000													5	17					0	0	0.014758	0	0
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:90039433G>A	ENST00000435041.2	-	8	1200	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.L308L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCGTTTGCCAGATATATTCGT	0.403000													18	17					0	0	0.006122	0	0
SACS	26278	broad.mit.edu	37	13	23913317	23913317	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:23913317G>A	ENST00000382298.3	-	10	5286	c.4698C>T	c.(4696-4698)atC>atT	p.I1566I	SACS_ENST00000402364.1_Silent_p.I816I|SACS_ENST00000382292.3_Silent_p.I1566I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1566					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGTCAGTGATATGGTACA	0.343000													5	46					0	0	0.021553	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044714	184044714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184044714C>G	ENST00000342981.4	+	22	3788	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.S1037*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.S1038*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.S1085*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.S1124*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.S928*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.S960*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.S929*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.S961*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.S1084*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.S1124*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1124					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S1124*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCTTCTCAGCCCTTCAA	0.463000													9	169					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:216348824G>A	ENST00000366943.2	-	21	4783	c.4396_splice	c.e21-1	p.A1466_splice	USH2A_ENST00000366942.3_Splice_Site_p.A1466_splice|USH2A_ENST00000307340.3_Splice_Site_p.A1466_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1466					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1466V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGCTGGTGCTAAATATTA	0.373000										HNSCC(13;0.011)			11	30					0	0	0.013537	0	0
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:112406907T>C	ENST00000302475.4	-	10	1802	c.1239A>G	c.(1237-1239)caA>caG	p.Q413Q	MCC_ENST00000515367.2_Silent_p.Q350Q|MCC_ENST00000408903.3_Silent_p.Q603Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	413					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.Q603Q(2)|p.Q413Q(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGTCATTTTGGGATTTGA	0.428000													26	87					0	0	0.021523	0	0
RIN1	9610	broad.mit.edu	37	11	66102012	66102012	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:66102012C>T	ENST00000311320.4	-	6	1384	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	RIN1_ENST00000424433.2_Missense_Mutation_p.E315K|RIN1_ENST00000530056.1_Missense_Mutation_p.E315K|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	420	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.E420K(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCAGCTTCTCAGGGCCCAGC	0.701000													4	6					0	0	0.009096	0	0
ZNF713	349075	broad.mit.edu	37	7	55990964	55990964	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55990964G>C	ENST00000429591.2	+	2	196	c.158G>C	c.(157-159)aGg>aCg	p.R53T	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.R53T	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAACTACAGGAATCTAGTT	0.512000													23	50					0	0	0.027356	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:124676442G>T	ENST00000368417.1	+	3	282	c.222G>T	c.(220-222)acG>acT	p.T74T	NKAIN2_ENST00000368416.1_Silent_p.T74T|NKAIN2_ENST00000546092.1_Silent_p.T74T|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Silent_p.T59T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	74						integral to membrane|plasma membrane		p.T74T(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCTGGGTTACGTGGAATGTGT	0.388000													28	36					2.2171e-23	3.06785e-23	0.009535	1	0
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:1056458C>A	ENST00000382251.3	+	5	1200	c.871C>A	c.(871-873)Cca>Aca	p.P291T	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P291T|DMRT2_ENST00000302441.6_Missense_Mutation_p.P291T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	291					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P291T(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAGCCCCAGCCCAGTGGAACC	0.483000													13	45					1.61879e-10	2.01234e-10	0.013537	1	0
BCL6	604	broad.mit.edu	37	3	187447552	187447552	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:187447552C>A	ENST00000406870.2	-	5	1007	c.641G>T	c.(640-642)cGg>cTg	p.R214L	BCL6_ENST00000450123.2_Missense_Mutation_p.R214L|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R214L|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	214					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCGGACATCCCGAAACTCCTC	0.622000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								13	63					4.3838e-07	5.06925e-07	0.016723	1	0
IGHV5-51	28388	broad.mit.edu	37	14	107035128	107035128	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:107035128G>A	ENST00000390626.2	-	0	93																											TTGGAGAACAGCCAGGAGGAG	0.577000													5	9					0	0	0.014758	0	0
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:44144038T>A	ENST00000542245.1	+	9	1002	c.964T>A	c.(964-966)Tgg>Agg	p.W322R	CAPN11_ENST00000398776.1_Missense_Mutation_p.W322R			Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.W322R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGAATCCCTGGGGCCGGAT	0.597000													28	28					0	0	0.009535	0	0
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:127728854C>A	ENST00000508053.1	-	16	2413	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	FBN2_ENST00000262464.4_Missense_Mutation_p.G480V|FBN2_ENST00000508989.1_Missense_Mutation_p.G447V			P35556	FBN2_HUMAN	fibrillin 2	480					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G480V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTCCCTGTCCCCCGGCCCC	0.512000													17	73					0.00074312	0.000788925	0.006122	1	0
OR10A4	283297	broad.mit.edu	37	11	6897968	6897968	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6897968C>T	ENST00000379829.2	+	1	113	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGTTTCTCCTTTTCTTGA	0.443000													17	99					0	0	0.028581	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67218614	67218614	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:67218614G>C	ENST00000314586.6	-	13	2245	c.2005C>G	c.(2005-2007)Ctg>Gtg	p.L669V		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	669					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		p.L669V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGTTGCCGCAGGCCAGCCACC	0.716000													12	46					0	0	0.010729	0	0
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:203455883C>T	ENST00000343110.2	+	3	1150	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	341					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D341D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTTCCATGACTTCTCCTCGG	0.562000													14	34					0	0	0.020292	0	0
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:173998896C>T	ENST00000457714.1	+	7	2704	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	NLGN1_ENST00000401917.3_Missense_Mutation_p.P799S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P759S|NLGN1_ENST00000545397.1_Missense_Mutation_p.P759S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P759S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GACCGCCTGTCCCCCAGATTA	0.458000													26	31					0	0	0.024334	0	0
LILRP2	79166	broad.mit.edu	37	19	55221965	55221965	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55221965G>A	ENST00000413439.1	+	0	1492																											TGACCCTGCTGTGTCAGTCAC	0.622000													12	58					0	0	0.016723	0	0
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:15928326G>T	ENST00000504595.1	+	3	936	c.455G>T	c.(454-456)cGg>cTg	p.R152L	FBXL7_ENST00000510662.1_Missense_Mutation_p.R105L|FBXL7_ENST00000329673.7_Missense_Mutation_p.R140L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R152L(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGGACCCGCGGCTCTGGAGG	0.662000													5	12					1.6384e-10	2.03479e-10	0.001984	1	0
ATP5A1	498	broad.mit.edu	37	18	43669547	43669547	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:43669547C>G	ENST00000593152.2	-	5	1024	c.485G>C	c.(484-486)gGt>gCt	p.G162A	ATP5A1_ENST00000590665.1_Missense_Mutation_p.G190A|ATP5A1_ENST00000398752.6_Missense_Mutation_p.G212A|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G212A	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	212					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.G212A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CTGTCGGTCACCAATAATCAG	0.408000													5	32					0	0	0.014758	0	0
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40344578C>T	ENST00000301671.8	-	4	1011	c.570G>A	c.(568-570)ctG>ctA	p.L190L	GHDC_ENST00000436923.2_Silent_p.L190L|GHDC_ENST00000593209.1_Silent_p.L190L|GHDC_ENST00000587427.1_Silent_p.L190L|GHDC_ENST00000414034.3_Silent_p.L190L|GHDC_ENST00000428494.2_Silent_p.L151L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	190						endoplasmic reticulum|nuclear envelope		p.L190L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGGGACCTCAGTGCGTCCA	0.652000													31	99					0	0	0.008361	0	0
PIGZ	80235	broad.mit.edu	37	3	196675122	196675122	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:196675122G>A	ENST00000412723.1	-	3	792	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637000													18	125					0	0	0.006122	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:71227747T>A	ENST00000554752.2	-	3	972	c.973A>T	c.(973-975)Atg>Ttg	p.M325L	MAP3K9_ENST00000555993.2_Missense_Mutation_p.M325L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.M19L|MAP3K9_ENST00000554146.1_Missense_Mutation_p.M62L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.M325L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	325	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.M325L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGAAAACATGGAGGCCCGG	0.557000													74	64					0	0	0.014410	0	0
NBEA	26960	broad.mit.edu	37	13	35624523	35624523	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:35624523A>T	ENST00000540320.1	+	6	1497	c.963A>T	c.(961-963)caA>caT	p.Q321H	NBEA_ENST00000379939.2_Missense_Mutation_p.Q321H|NBEA_ENST00000400445.3_Missense_Mutation_p.Q321H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q321H			Q8NFP9	NBEA_HUMAN	neurobeachin	321						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q321H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGATTTTCAACCACGCAAGG	0.353000													3	5					0	0	0.004672	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:130762655T>C	ENST00000392429.1	+	2	3466	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M363T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M363T	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363						integral to membrane		p.M363T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGTCATCTATGGCTCTCGGA	0.527000													8	33					0	0	0.003080	0	0
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:111395637C>T	ENST00000535254.1	-	24	3169	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	BUB1_ENST00000409311.1_Silent_p.L997L|BUB1_ENST00000302759.6_Silent_p.L1054L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1054	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L1054L(2)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATACTTTCTTCAGCTTTTGCC	0.338000													9	19					0	0	0.006214	0	0
RAI1	10743	broad.mit.edu	37	17	17699745	17699745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:17699745G>A	ENST00000353383.1	+	3	3952	c.3483G>A	c.(3481-3483)cgG>cgA	p.R1161R	RAI1_ENST00000261641.6_Silent_p.R1161R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1161						cytoplasm|nucleus	zinc ion binding	p.R1161R(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAGCGGCGGAGGCCCTCTG	0.632000													17	57					0	0	0.028581	0	0
SCAF11	9169	broad.mit.edu	37	12	46321290	46321290	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:46321290C>G	ENST00000465950.1	-	1	2458	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	SCAF11_ENST00000549162.1_Missense_Mutation_p.E540Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E732Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E732Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	732					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCAACTTCAGATTCATTT	0.348000													5	63					0	0	0.021553	0	0
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:32037579C>T	ENST00000375244.3	-	15	5539	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1780K			P22105	TENX_HUMAN	tenascin XB	1862	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E1867K(1)|p.E1780K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCTCCTCCCCCAGACGG	0.577000													9	20					0	0	0.006214	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:33527444G>A	ENST00000504830.1	-	24	4969	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1460L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1545	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1545L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACTGGCTGACAGTTTGTC	0.438000										HNSCC(64;0.19)			11	40					0	0	0.010729	0	0
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27800472G>C	ENST00000408964.2	+	1	1084	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	345								p.D345H(4)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCACGTCCCAGATTCTGCTTC	0.443000													7	29					0	0	0.003080	0	0
CEP152	22995	broad.mit.edu	37	15	49059596	49059596	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49059596C>T	ENST00000380950.2	-	16	2270	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CEP152_ENST00000325747.5_Missense_Mutation_p.A602T|CEP152_ENST00000399334.3_Missense_Mutation_p.A695T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	695					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGCTTTGCTAATAGGCTT	0.438000													7	15					0	0	0.003080	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	15					0	0	0.014758	0	0
GRIK1	2897	broad.mit.edu	37	21	30971253	30971253	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:30971253C>T	ENST00000399914.1	-	8	1624	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	GRIK1_ENST00000309434.7_Missense_Mutation_p.R370Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R368Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R370Q|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R368Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R368Q|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000389125.3_Missense_Mutation_p.R368Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	368					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R368Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCCACCGGGCCTGTGG	0.383000													3	40					0	0	0.004672	0	0
TANGO6	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:68941453G>T	ENST00000261778.1	+	10	1787	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.G121V(2)|p.G592V(2)									GGTTTGGCAGGAGACTTCTTC	0.502000													12	20					6.40141e-05	6.9887e-05	0.010729	1	0
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6007353A>T	ENST00000332249.4	-	1	862	c.808T>A	c.(808-810)Tat>Aat	p.Y270N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y255N(2)|p.Y270N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGACATAGAAGACCAGG	0.517000													11	37					0	0	0.008291	0	0
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	G	A	rs61748538		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:94564460G>A	ENST00000370225.3	-	6	744	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R220C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	220			R -> C (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R220C(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTGCCCCGCGTCTCTGGCTG	0.602000													14	57					0	0	0.028581	0	0
ZNF160	90338	broad.mit.edu	37	19	53572843	53572843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:53572843C>A	ENST00000601421.1	-	3	1712	c.836G>T	c.(835-837)tGt>tTt	p.C279F	ZNF160_ENST00000429604.1_Missense_Mutation_p.C315F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C315F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C315F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	315					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C315F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATGACATTTGTAAGG	0.413000													13	80					4.3838e-07	5.06925e-07	0.016723	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:89265822C>G	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													21	86					0	0	0.010504	0	0
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:89131063T>A	ENST00000286614.6	-	5	1018	c.737A>T	c.(736-738)cAt>cTt	p.H246L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	246					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H246L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCCAGTTCATGGACTGCTAC	0.383000													8	15					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179599169A>T	ENST00000589042.1	-	52	15606	c.15382T>A	c.(15382-15384)Tct>Act	p.S5128T	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3884T|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4811T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4811	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3884T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGAGACTTCTGAGAA	0.393000													22	61					0	0	0.010504	0	0
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:41410526A>G	ENST00000551295.2	+	19	2344	c.2227A>G	c.(2227-2229)Ata>Gta	p.I743V	CNTN1_ENST00000348761.2_Missense_Mutation_p.I732V|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.I743V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	743	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I743V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTTGGTTACATAGTGGCATT	0.363000													11	30					0	0	0.008291	0	0
NR5A2	2494	broad.mit.edu	37	1	200017620	200017620	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:200017620G>T	ENST00000367362.3	+	5	1030	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	NR5A2_ENST00000236914.3_Missense_Mutation_p.G216C|NR5A2_ENST00000544748.1_Missense_Mutation_p.G190C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	262					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAACATATGGCCACTTTCC	0.507000													10	65					0.000978159	0.00103509	0.010729	1	0
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40280324C>A	ENST00000393860.3	-	5	712	c.396G>T	c.(394-396)gcG>gcT	p.A132A	RAB5C_ENST00000547517.1_Silent_p.A165A|RAB5C_ENST00000346213.4_Silent_p.A132A|CTD-2132N18.3_ENST00000592574.1_Silent_p.A132A	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.A132A(2)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTTGTTACCCGCGAGTGCAA	0.587000													16	61					6.31663e-08	7.49634e-08	0.024245	1	0
H2AFV	94239	broad.mit.edu	37	7	44875224	44875224	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44875224G>C	ENST00000222690.6	-	4	334	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	H2AFV_ENST00000308153.4_Missense_Mutation_p.L77V|H2AFV_ENST00000446531.1_Missense_Mutation_p.L77V|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.L51V|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000437072.1_Missense_Mutation_p.L39V|H2AFV_ENST00000349299.3_Missense_Mutation_p.L39V	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L77V(1)|p.L77I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTTACTTTGAGATCCTTAGAA	0.463000													7	35					0	0	0.003080	0	0
FBN1	2200	broad.mit.edu	37	15	48712914	48712914	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:48712914G>A	ENST00000316623.5	-	63	8244	c.7789C>T	c.(7789-7791)Ctc>Ttc	p.L2597F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2597	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.L2597F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTGCTGGAGGTAGCCCTGG	0.527000													5	50					0	0	0.014758	0	0
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:49754596G>C	ENST00000304801.3	-	1	457	c.305C>G	c.(304-306)gCa>gGa	p.A102G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.A102G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACTTCTGCGCCTACACA	0.532000													40	36					0	0	0.025465	0	0
GGH	8836	broad.mit.edu	37	8	63930053	63930053	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:63930053T>C	ENST00000260118.6	-	8	1236	c.835_splice	c.e8+1	p.E278_splice		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	278	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E278E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATATTACCTTCATTAACAA	0.358000													7	36					0	0	0.008291	0	0
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:656540C>A	ENST00000380907.2	-	1	423	c.405G>T	c.(403-405)cgG>cgT	p.R135R	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	135								p.R135R(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGGGAAGCACCCGCACGGGCA	0.731000													51	29					5.73376e-24	7.95916e-24	0.014410	1	0
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65417286G>T	ENST00000394224.3	+	12	2992	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	SIPA1_ENST00000534313.1_Missense_Mutation_p.R899M|SIPA1_ENST00000394227.3_Missense_Mutation_p.R797M|SIPA1_ENST00000527525.1_Missense_Mutation_p.R797M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	899					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R899M(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCGGAGCTGAGGGCCTCCTTT	0.627000													29	48					8.58068e-18	1.16034e-17	0.007291	1	0
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180166157C>A	ENST00000307832.2	-	1	942	c.902G>T	c.(901-903)tGg>tTg	p.W301L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W301L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTACTTTCCACAGAGCCCC	0.418000													17	83					1.67942e-08	2.01869e-08	0.006122	1	0
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:74094015C>A	ENST00000607838.1	-	5	596	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	EXOC7_ENST00000335146.7_Missense_Mutation_p.V168L|EXOC7_ENST00000589210.1_Missense_Mutation_p.V168L|EXOC7_ENST00000467929.2_Missense_Mutation_p.V127L|EXOC7_ENST00000411744.2_Missense_Mutation_p.V168L|EXOC7_ENST00000405575.4_Missense_Mutation_p.V168L|EXOC7_ENST00000332065.5_Missense_Mutation_p.V168L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	168					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	p.V168L(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATGAGCACGGGCGAGACG	0.592000													24	101					4.26978e-12	5.4369e-12	0.018920	1	0
ESRRB	2103	broad.mit.edu	37	14	76966335	76966335	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76966335C>A	ENST00000380887.2	+	8	1498	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	ESRRB_ENST00000509242.1_Missense_Mutation_p.R476S|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R476S(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCAATCCACGCCCTTCTAG	0.537000													9	4					0.00448238	0.00466039	0.004482	1	0
ENOX1	55068	broad.mit.edu	37	13	43930179	43930179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:43930179C>A	ENST00000261488.6	-	8	1276	c.699G>T	c.(697-699)agG>agT	p.R233S	ENOX1_ENST00000412891.1_Missense_Mutation_p.R233S|ENOX1_ENST00000540032.1_Missense_Mutation_p.R46S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	233					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R233S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCACGCATCCTCTGCTTGC	0.617000													19	156					5.35267e-07	6.16782e-07	0.007413	1	0
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:31324729G>T	ENST00000580599.1	+	6	783		c.e6-1		SPACA3_ENST00000394638.1_Splice_Site|SPACA3_ENST00000269053.3_Splice_Site|SPACA3_ENST00000394637.2_Splice_Site			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCCATCCTCAGGGAGGCCTGG	0.532000													27	44					1.66031e-10	2.06004e-10	0.021523	1	0
LAD1	3898	broad.mit.edu	37	1	201356047	201356047	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:201356047G>C	ENST00000391967.2	-	3	743	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	LAD1_ENST00000367313.3_Missense_Mutation_p.R162G	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	148						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CGCTGTTCCCGACTCAGTCTC	0.612000													11	126					0	0	0.010729	0	0
SCN2A	6326	broad.mit.edu	37	2	166211143	166211143	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166211143G>A	ENST00000375437.2	+	17	3651	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E1121K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E1121K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1121K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1121					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1121K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAATACTGAAGAATTCAGCAG	0.323000													6	31					0	0	0.021553	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925403	116925403	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:116925403C>G	ENST00000355044.3	+	7	1216	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	364						integral to membrane	sugar binding	p.Q364E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTTTATATCAGGTATGGCT	0.313000													3	20					0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10361031	10361031	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:10361031A>G	ENST00000255381.2	-	16	1713	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	535	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S535P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTAGGATGGAGAAGATGCCC	0.403000													7	38					0	0	0.001984	0	0
PRDM4	11108	broad.mit.edu	37	12	108134944	108134944	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:108134944T>C	ENST00000228437.5	-	10	2162	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	568					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.H568R(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGATGGTTATGGATGTGGCT	0.488000													15	81					0	0	0.028581	0	0
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:45822468C>A	ENST00000177694.1	+	6	1555	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	448					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCTGGTTCCGCCCTATGC	0.677000													16	32					1.15088e-07	1.35112e-07	0.028581	1	0
ZNF93	81931	broad.mit.edu	37	19	20045245	20045245	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:20045245C>G	ENST00000343769.5	+	4	1509	c.1481C>G	c.(1480-1482)tCt>tGt	p.S494C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	494						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S494C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCAGTCCTCTTCCCTTACT	0.368000													3	24					0	0	0.004672	0	0
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:22248914G>T	ENST00000324559.8	+	7	747	c.430G>T	c.(430-432)Gct>Tct	p.A144S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	144						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.A144S(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTACCTATGCTGAAGTCTT	0.433000													14	36					8.60227e-14	1.12379e-13	0.028581	1	0
SENP7	57337	broad.mit.edu	37	3	101056447	101056447	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:101056447C>T	ENST00000394095.2	-	17	2439	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SENP7_ENST00000394091.1_Missense_Mutation_p.E632K|SENP7_ENST00000348610.3_Missense_Mutation_p.E763K|SENP7_ENST00000358203.3_Missense_Mutation_p.E632K|SENP7_ENST00000314261.7_Missense_Mutation_p.E730K|SENP7_ENST00000394094.2_Missense_Mutation_p.E731K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	796	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.E730K(1)|p.E796K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACAAGTTCATCTGATGCC	0.318000													6	46					0	0	0.021553	0	0
ADAM17	6868	broad.mit.edu	37	2	9633917	9633917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:9633917C>T	ENST00000310823.3	-	16	2134	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	651	Crambin-like.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.R651Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATCCCAAAATCGTTCAATTAC	0.378000													3	19					0	0	0.004672	0	0
COL4A1	1282	broad.mit.edu	37	13	110817207	110817207	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:110817207A>T	ENST00000375820.4	-	46	4272		c.e46+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCTTCTCACCTTGCTGGC	0.597000													3	35					0	0	0.004672	0	0
TCL6	27004	broad.mit.edu	37	14	96135898	96135898	+	RNA	SNP	A	A	T	rs76461999		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96135898A>T	ENST00000467865.1	+	0	1832				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttagaagcaaggcacaagtc	0.512000			T	TRA@	T-ALL								4	25					0	0	0.014758	0	0
TTC18	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:75095212T>C	ENST00000401621.2	-	8	983	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.Y288C|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.Y288C|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	288							binding	p.Y288C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGATCAAGGTAGCAGCGACT	0.393000													6	21					0	0	0.021553	0	0
KRT82	3888	broad.mit.edu	37	12	52788853	52788853	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52788853G>T	ENST00000257974.2	-	9	1525	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGCTCGCAGGGGACATAGAG	0.632000													25	72					7.16444e-05	7.8087e-05	0.021523	1	0
CIC	23152	broad.mit.edu	37	19	42791043	42791043	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42791043G>T	ENST00000572681.2	+	3	2983	c.2915G>T	c.(2914-2916)aGc>aTc	p.S972I	CIC_ENST00000160740.3_Missense_Mutation_p.S63I|CIC_ENST00000575839.2_3'UTR|CIC_ENST00000575354.2_Missense_Mutation_p.S63I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S63I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCTGCCAGCCACCCAGTG	0.667000			"""Mis, F, S"""		oligodendroglioma								15	38					2.31682e-05	2.56142e-05	0.024245	1	0
UBAP2	55833	broad.mit.edu	37	9	33927814	33927814	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:33927814G>A	ENST00000379238.1	-	20	2469	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	UBAP2_ENST00000360802.1_Silent_p.A784A|UBAP2_ENST00000379235.1_Silent_p.A23A|UBAP2_ENST00000539807.1_Silent_p.A539A|UBAP2_ENST00000379239.4_Silent_p.A517A|UBAP2_ENST00000449054.1_Silent_p.A784A			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	784										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCAAGGGCGCGGCCCTGCTAC	0.652000													4	93					0	0	0.014758	0	0
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	C	rs112168960		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:52439604G>C	ENST00000242819.4	+	2	386	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507000													19	97					0	0	0.014323	0	0
COL4A6	1288	broad.mit.edu	37	X	107554023	107554023	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107554023C>A	ENST00000334504.7	-	3	332	c.99G>T	c.(97-99)caG>caT	p.Q33H	COL4A6_ENST00000538570.1_Missense_Mutation_p.Q33H|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000394872.2_Missense_Mutation_p.Q33H|COL4A6_ENST00000372216.4_Missense_Mutation_p.Q34H|COL4A6_ENST00000545689.1_Missense_Mutation_p.Q33H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	34	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACTGCAGTCCTGGCCCCCAC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				10	43					6.40141e-05	6.9887e-05	0.010729	1	0
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180582654G>T	ENST00000328275.1	+	1	712	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A238S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAAAAGGCCCTGGCCAC	0.572000													15	61					6.81908e-15	9.03459e-15	0.020292	1	0
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:30704584C>T	ENST00000256246.2	-	1	2024	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	650								p.T650T(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTTATCCGTATCAATTT	0.299000													9	18					0	0	0.006214	0	0
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:117660523T>A	ENST00000317775.6	-	26	4657	c.3972A>T	c.(3970-3972)ccA>ccT	p.P1324P	NOS1_ENST00000338101.4_Silent_p.P1358P|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1324					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTTACCTTTGGTTTGTCTG	0.552000													67	108					0	0	0.014410	0	0
CNIH3	149111	broad.mit.edu	37	1	224872505	224872505	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:224872505G>C	ENST00000272133.3	+	3	1040	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	53					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.R53P(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TAGAGGGAACGGTTGAGGAAC	0.542000													5	76					0	0	0.014758	0	0
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	C	A	rs139579223	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:29786167C>A	ENST00000256062.5	-	6	1190	c.717G>T	c.(715-717)gaG>gaT	p.E239D	TMTC1_ENST00000539277.1_Missense_Mutation_p.E347D|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.E409D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E301D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E409D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	347						integral to membrane	binding	p.E239D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCCATATGGTCTCTACCAGAG	0.507000													9	34					1.12685e-05	1.2575e-05	0.004482	1	0
CHST11	50515	broad.mit.edu	37	12	105150924	105150924	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:105150924C>T	ENST00000303694.5	+	3	841	c.402C>T	c.(400-402)ctC>ctT	p.L134L	CHST11_ENST00000549260.1_Silent_p.L129L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	134					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.L134L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAAGCGGCTCATGATGGTCC	0.612000													6	65					0	0	0.021553	0	0
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6007293C>T	ENST00000332249.4	-	1	922	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275I(2)|p.V290I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATGGACATGATGGGGT	0.502000													5	13					0	0	0.014758	0	0
MRPS30	10884	broad.mit.edu	37	5	44811251	44811251	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:44811251G>T	ENST00000507110.1	+	2	780	c.742G>T	c.(742-744)Gca>Tca	p.A248S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	248					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.A248S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CAAGCAACTCGCAGAGGTAAG	0.368000													4	24					0.00024832	0.000266873	0.009096	1	0
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:25887236C>A	ENST00000376351.3	+	11	3040	c.2681C>A	c.(2680-2682)cCa>cAa	p.P894Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	894						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P894Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGGGCACCCACGAACATCG	0.517000													19	81					5.3912e-06	6.068e-06	0.006122	1	0
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:33328826G>A	ENST00000374796.2	-	12	7804	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1745F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S1745F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAAGGAGGGGAAGGAAGCTG	0.542000													18	36					0	0	0.006122	0	0
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113286318A>T	ENST00000233336.5	+	7	1271	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P360P(2)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGTCTTCCCACCCCCAGATG	0.512000			T	ETV6	ALL								29	58					0	0	0.008361	0	0
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57649865C>G	ENST00000269834.1	-	3	502	c.117G>C	c.(115-117)gaG>gaC	p.E39D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGTAATTCTCCAGCATCA	0.547000													16	68					0	0	0.024245	0	0
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:161495729C>A	ENST00000309758.4	+	1	1694	c.1281C>A	c.(1279-1281)acC>acA	p.T427T		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					response to unfolded protein		ATP binding	p.T427T(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAAGCAGACCCAGACTTTCA	0.597000													48	31					5.13769e-22	7.07175e-22	0.014410	1	0
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:13702486T>A	ENST00000357447.2	-	20	2096	c.1728A>T	c.(1726-1728)ccA>ccT	p.P576P	FRMD4A_ENST00000378503.1_Silent_p.P576P|FRMD4A_ENST00000358621.4_Silent_p.P561P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576						cytoplasm|cytoskeleton	binding	p.P576P(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCGACGGTGGCCGAGGAG	0.562000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	42					0	0	0.010818	0	0
KMT2C	58508	broad.mit.edu	37	7	151945082	151945082	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:151945082G>C	ENST00000355193.2	-	14	2655	c.2437C>G	c.(2437-2439)Cca>Gca	p.P813A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P813A					lysine (K)-specific methyltransferase 2C									p.P813A(2)									TAAGTTGTTGGCATGATGTTT	0.448000													8	110					0	0	0.003080	0	0
LZTS2	84445	broad.mit.edu	37	10	102763856	102763856	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:102763856G>A	ENST00000370220.1	+	2	4064	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R334Q			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	334					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAAAGCTCCGAGACCGGGAG	0.632000													15	66					0	0	0.028581	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140501728G>C	ENST00000194152.1	+	1	148	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542000													8	56					0	0	0.003080	0	0
TCL6	27004	broad.mit.edu	37	14	96135899	96135899	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96135899G>T	ENST00000467865.1	+	0	1833				RP11-1070N10.6_ENST00000461160.1_RNA														p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ttagaagcaaggcacaagtca	0.507000			T	TRA@	T-ALL								4	25					0.014758	0.0151397	0.014758	1	0
TBL1XR1	79718	broad.mit.edu	37	3	176769466	176769466	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:176769466C>G	ENST00000430069.1	-	5	512	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D85H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	85	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D85H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATTACGGCATCTATCAGGGAC	0.443000													7	48					0	0	0.001984	0	0
OPLAH	26873	broad.mit.edu	37	8	145108219	145108219	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:145108219C>G	ENST00000426825.1	-	20	2845	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	922							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.D922H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCACGGAGGTCCGACAGGTTG	0.652000													13	36					0	0	0.013537	0	0
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:3328985G>T	ENST00000378398.3	+	10	2309	c.2227G>T	c.(2227-2229)Gac>Tac	p.D743Y	PRDM16_ENST00000514189.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D742Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D742Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	742	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D742Y(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCACGGACCGAGCCCT	0.647000			T	EVI1	"""MDS, AML"""								39	41					2.35968e-33	3.34651e-33	0.023175	1	0
ADCY8	114	broad.mit.edu	37	8	131955633	131955633	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:131955633G>C	ENST00000286355.5	-	4	3409	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L439L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L439L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGCTCGTTGAGCATCCTGA	0.473000										HNSCC(32;0.087)			3	16					0	0	0.004672	0	0
MYOM3	127294	broad.mit.edu	37	1	24401952	24401952	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:24401952G>A	ENST00000330966.7	-	22	2880	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.I905I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Silent_p.I905I			Q5VTT5	MYOM3_HUMAN	myomesin 3	905								p.I905I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCAACCTCGATCTCATGGG	0.537000													7	34					0	0	0.003080	0	0
CTD-2311B13.7	0	broad.mit.edu	37	14	19969260	19969260	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:19969260C>A	ENST00000547399.1	-	0	3032																											CTGCATTGCCCTTTCTTCTAG	0.279000													2	0					0.004672	0.00483069	0.004672	1	0
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:286583G>C	ENST00000432829.2	+	3	391	c.75G>C	c.(73-75)gtG>gtC	p.V25V	DOCK8_ENST00000469391.1_Silent_p.V25V|DOCK8_ENST00000453981.1_Silent_p.V93V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V93V(2)|p.V25V(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTGGACGTGGTGTTCACGC	0.493000													11	13					0	0	0.013537	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481775	27481775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27481775G>T	ENST00000233535.4	-	2	475	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC30A3_ENST00000447008.2_Silent_p.L36L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	41					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.L41L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCTCAGGGAGGGGCTCTG	0.647000													15	12					4.93089e-13	6.36542e-13	0.020292	1	0
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198953721C>T	ENST00000428675.1	+	3	3253	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P854L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	952					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P854L(2)|p.P952L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAGCTTTCCTTACCTGGAG	0.453000													55	69					0	0	0.014410	0	0
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:125453184C>A	ENST00000308736.2	-	10	1402	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DHX37_ENST00000544745.1_Missense_Mutation_p.R222M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R435M(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGGAACTGCCTGGATTCCAC	0.602000													47	139					1.61004e-24	2.23968e-24	0.014410	1	0
RGS9	8787	broad.mit.edu	37	17	63189700	63189700	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:63189700C>T	ENST00000449996.3	+	12	849	c.777C>T	c.(775-777)gcC>gcT	p.A259A	RGS9_ENST00000262406.9_Silent_p.A262A|RGS9_ENST00000443584.3_Silent_p.A259A	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	262	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.A262A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAACGATGCCATCATGTCAG	0.423000													3	25					0	0	0.004672	0	0
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:43508578G>C	ENST00000400427.1	+	5	958	c.562G>C	c.(562-564)Gtc>Ctc	p.V188L	UMODL1_ENST00000408910.2_Missense_Mutation_p.V260L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V260L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V188L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	260						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.V188L(2)|p.V260L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGATCAGCGTCCAGGTGCA	0.607000													3	6					0	0	0.004672	0	0
TBATA	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:72541683G>T	ENST00000299290.1	-	4	540	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	TBATA_ENST00000545575.1_Silent_p.R41R|TBATA_ENST00000456372.2_Silent_p.R51R	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597000													41	89					6.2361e-21	8.53877e-21	0.007835	1	0
MAZ	4150	broad.mit.edu	37	16	29819948	29819948	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:29819948G>A	ENST00000219782.6	+	4	1271	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MAZ_ENST00000545521.1_Missense_Mutation_p.E366K|MAZ_ENST00000562337.1_Missense_Mutation_p.E84K|MAZ_ENST00000322945.6_Missense_Mutation_p.E389K|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	389					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.E389K(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTACGACACGAGGAGAAAGT	0.582000													3	25					0	0	0.004672	0	0
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:20879649G>A	ENST00000332947.4	+	1	718	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61								p.Q61Q(2)		large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GCCGGCGCCAGAAAGTGGAGC	0.692000													7	15					0	0	0.001984	0	0
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:45397883C>G	ENST00000389039.6	-	18	2677	c.2292G>C	c.(2290-2292)cgG>cgC	p.R764R	DUOX2_ENST00000603300.1_Silent_p.R764R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	764					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	p.R764R(2)		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)		GGATGCGTTCCCGCTGCTGCT	0.557000													39	53					0	0	0.023175	0	0
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	G	T	rs145685246		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:51363276G>T	ENST00000522124.1	+	8	1011	c.350G>T	c.(349-351)aGa>aTa	p.R117I	SNTG1_ENST00000518864.1_Missense_Mutation_p.R117I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R117I|SNTG1_ENST00000517473.1_Missense_Mutation_p.R117I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R117I(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGAAAATGTAGACATGAAGAA	0.323000													4	8					0.00024832	0.000266873	0.009096	1	0
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	G	T	rs142320179		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:6606404G>T	ENST00000433363.2	-	5	834	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	SLC13A5_ENST00000573648.1_Silent_p.R201R|SLC13A5_ENST00000293800.6_Silent_p.R184R|SLC13A5_ENST00000381074.4_Silent_p.R158R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	201						integral to membrane	citrate transmembrane transporter activity	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACCTCTTCCGCTCTTGGTCT	0.632000													38	54					1.69901e-12	2.1804e-12	0.023175	1	0
CENPE	1062	broad.mit.edu	37	4	104067129	104067129	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:104067129G>C	ENST00000265148.3	-	30	4359	c.4270C>G	c.(4270-4272)Ctc>Gtc	p.L1424V	CENPE_ENST00000380026.3_Missense_Mutation_p.L1399V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1424					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GACAATCCGAGCATTTCTATT	0.363000													6	44					0	0	0.021553	0	0
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:112031646T>G	ENST00000369716.4	-	3	591	c.457_splice	c.e3-1	p.D153_splice	ADORA3_ENST00000369717.4_Splice_Site_p.D72_splice	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	278					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.D72A(2)|p.D153A(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACCATGGCATCTGTGAAAac	0.463000													8	25					0	0	0.003080	0	0
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35370326G>T	ENST00000378495.3	+	12	1448	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	UNC13B_ENST00000378496.4_Missense_Mutation_p.G409V|UNC13B_ENST00000396787.1_Missense_Mutation_p.G421V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	409					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.G409V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCCGGAGGGCTCTATGGC	0.512000													12	26					5.16669e-11	6.50933e-11	0.010729	1	0
PLEKHG7	440107	broad.mit.edu	37	12	93163941	93163941	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:93163941C>T	ENST00000344636.3	+	12	1294	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.F370F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATCTTTATTCACATTGCCCG	0.318000													5	22					0	0	0.014758	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:156482498A>G	ENST00000339252.3	-	2	625	c.93T>C	c.(91-93)tcT>tcC	p.S31S	HAVCR1_ENST00000544197.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S|HAVCR1_ENST00000523175.1_Silent_p.S31S|HAVCR1_ENST00000522693.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	31	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468000													3	15					0	0	0.009096	0	0
ZNF516	9658	broad.mit.edu	37	18	74091694	74091694	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:74091694G>A	ENST00000443185.2	-	4	2693	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAATCCACGGGGGAGCCACGG	0.597000													7	26					0	0	0.001984	0	0
NR5A2	2494	broad.mit.edu	37	1	200017621	200017621	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:200017621G>T	ENST00000367362.3	+	5	1031	c.785G>T	c.(784-786)gGc>gTc	p.G262V	NR5A2_ENST00000236914.3_Missense_Mutation_p.G216V|NR5A2_ENST00000544748.1_Missense_Mutation_p.G190V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	262					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAAACATATGGCCACTTTCCT	0.512000													10	66					0.000978159	0.00103509	0.010729	1	0
C11orf82	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:82643578G>C	ENST00000533655.1	+	6	1410	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.E99Q|C11orf82_ENST00000430323.2_Missense_Mutation_p.E400Q|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	400					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.E400Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGACTTGAAGAGACAGCCAG	0.463000													27	115					0	0	0.027356	0	0
HK1	3098	broad.mit.edu	37	10	71048521	71048521	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:71048521G>A	ENST00000448642.2	+	4	411	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	HK1_ENST00000404387.2_Missense_Mutation_p.E8K|HK1_ENST00000360289.2_5'UTR			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E8K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCCAGCGAGAATCGGTAAG	0.512000													4	32					0	0	0.014758	0	0
SMURF2	64750	broad.mit.edu	37	17	62558992	62558992	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:62558992C>T	ENST00000262435.9	-	11	1296	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	370					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.R370Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AACCAGGTCTCGCTTGTACCT	0.463000													7	36					0	0	0.003080	0	0
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:24920559A>G	ENST00000405141.1	+	12	1552	c.841A>G	c.(841-843)Aga>Gga	p.R281G	NCOA1_ENST00000348332.3_Missense_Mutation_p.R281G|NCOA1_ENST00000288599.5_Missense_Mutation_p.R281G|NCOA1_ENST00000406961.1_Missense_Mutation_p.R281G|NCOA1_ENST00000407230.1_Missense_Mutation_p.R130G|NCOA1_ENST00000538539.1_Missense_Mutation_p.R281G|NCOA1_ENST00000395856.3_Missense_Mutation_p.R281G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	281								p.R281G(4)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTTCCCTGAGAGCTGCTGG	0.368000			T	PAX3	alveolar rhadomyosarcoma								7	14					0	0	0.001984	0	0
RNF213	57674	broad.mit.edu	37	17	78265440	78265440	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:78265440G>C	ENST00000582970.1	+	8	1428	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	RNF213_ENST00000319921.4_Missense_Mutation_p.D429H|RNF213_ENST00000508628.2_Missense_Mutation_p.D478H|RNF213_ENST00000456466.1_Missense_Mutation_p.D429H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	429								p.D429H(4)|p.D478H(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTGGGTCATGACCGCGTTCT	0.408000													22	85					0	0	0.014323	0	0
SOS1	6654	broad.mit.edu	37	2	39278356	39278356	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:39278356C>T	ENST00000426016.1	-	7	879	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SOS1_ENST00000395038.2_Missense_Mutation_p.D265N|SOS1_ENST00000402219.2_Missense_Mutation_p.D265N|SOS1_ENST00000428721.2_Missense_Mutation_p.D208N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	265	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.D265N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTACTGTATCTTCTATATGG	0.373000									Noonan syndrome				5	31					0	0	0.014758	0	0
FER1L5	90342	broad.mit.edu	37	2	97368993	97368993	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:97368993C>T	ENST00000457909.1	+	0	5104							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.I1903I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTATTTCATCCAATACAAGC	0.572000													46	120					0	0	0.009718	0	0
SUSD2	56241	broad.mit.edu	37	22	24580910	24580910	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:24580910T>G	ENST00000358321.3	+	5	1043		c.e5+2			NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2						immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGGCAGAAGTAAGAAGGCAT	0.607000													11	26					0	0	0.013537	0	0
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:14766512G>C	ENST00000438167.3	-	4	889	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	150					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	p.L150L(1)									GGGGGTAGAAGAGGTACTTTA	0.478000													31	149					0	0	0.008361	0	0
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:36614834G>T	ENST00000311485.3	-	2	1046	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	295					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.N295K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCTATCTTGTTGTCCTCTA	0.388000									Familial Hemophagocytic Lymphohistiocytosis				40	135					9.62906e-15	1.27318e-14	0.025465	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212971	26212971	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:26212971G>T	ENST00000379034.1	+	2	1157	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	336	MAGE.							p.L336F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGAAGATTTGGTGCAAGATA	0.498000													27	83					8.16721e-17	1.09875e-16	0.010818	1	0
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248813783G>C	ENST00000344889.3	-	1	402	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135V(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCTCATGAGGACAGGATAG	0.552000													22	15					0	0	0.007291	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264475	61264475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61264475G>A	ENST00000344731.5	+	8	1156	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G300S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	352					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.G352S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACCGGCATAGGCTTTACTGT	0.522000													10	47					0	0	0.006214	0	0
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:36194191A>G	ENST00000242108.4	+	2	976	c.258A>G	c.(256-258)gtA>gtG	p.V86V	EEPD1_ENST00000534978.1_Silent_p.V86V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	86					DNA repair		DNA binding	p.V86V(2)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCAGTGGTGTAGGCGCCACCA	0.612000													19	62					0	0	0.008871	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60699590G>T	ENST00000005286.4	+	7	1503	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q449H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	449						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q450H(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAACACACAGGTCCTGCAGG	0.622000													26	53					9.57634e-11	1.19956e-10	0.018920	1	0
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:39448475G>A	ENST00000257408.4	+	4	2226	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	710	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G710E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCTACGGGGCGGCGCAC	0.657000													18	45					0	0	0.007413	0	0
FLI1	2313	broad.mit.edu	37	11	128634714	128634714	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:128634714G>A	ENST00000281428.8	+	1	30	c.30G>A	c.(28-30)gcG>gcA	p.A10A	FLI1_ENST00000429175.2_Intron|FLI1_ENST00000344954.6_Intron|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.1_Intron|FLI1_ENST00000527767.2_Intron	NM_001271010.1	NP_001257939.1	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	76					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCGAGCGGGCGAGGTATGGCT	0.652000			T	EWSR1	Ewing sarcoma								3	8					0	0	0.014758	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367374	3367374	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:3367374G>C	ENST00000574298.1	+	6	869	c.396G>C	c.(394-396)aaG>aaC	p.K132N	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K132N(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCCAGTGAAGAAAAGAAAGA	0.383000													5	21					0	0	0.014758	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762245	23762245	+	Translation_Start_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:23762245C>A	ENST00000397312.2	-	0	262				ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAGCAATTACCTGCTAAAAAC	0.393000													17	29					4.14922e-12	5.29369e-12	0.028581	1	0
COL3A1	1281	broad.mit.edu	37	2	189866142	189866142	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:189866142G>T	ENST00000304636.3	+	33	2473	c.2303G>T	c.(2302-2304)gGt>gTt	p.G768V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G768V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	768	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTATTGGTCCTCCTGGC	0.368000													4	61					0.00909568	0.009375	0.009096	1	0
PLS1	5357	broad.mit.edu	37	3	142388273	142388273	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:142388273G>T	ENST00000337777.3	+	3	325	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	PLS1_ENST00000457734.2_Missense_Mutation_p.D38Y|PLS1_ENST00000497002.1_Missense_Mutation_p.D38Y	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D38Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGAACTTCAAGACCTGTTTAA	0.368000													7	40					2.0095e-06	2.28138e-06	0.001984	1	0
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:3786361T>A	ENST00000381771.2	-	6	770	c.623A>T	c.(622-624)cAc>cTc	p.H208L	CAMKK1_ENST00000381769.2_Missense_Mutation_p.H235L|CAMKK1_ENST00000348335.2_Missense_Mutation_p.H208L|CAMKK1_ENST00000158166.5_Missense_Mutation_p.H208L			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	208	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.H208L(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CACATTCACGTGGTCCAGCTT	0.642000													25	31					0	0	0.021523	0	0
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:9072073C>A	ENST00000397910.4	-	3	15576	c.15373G>T	c.(15373-15375)Gag>Tag	p.E5125*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGGTCTCTTCTGTGTTT	0.438000													39	51					9.80977e-26	1.36752e-25	0.019004	1	0
POLR1E	64425	broad.mit.edu	37	9	37486630	37486630	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:37486630C>T	ENST00000377792.3	+	1	481	c.193C>T	c.(193-195)Cca>Tca	p.P65S	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	65					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTCTAGTCCCACCgtacat	0.552000													14	38					0	0	0.016723	0	0
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:73962875A>C	ENST00000358602.4	-	27	5252	c.5136T>G	c.(5134-5136)cgT>cgG	p.R1712R	ANKRD17_ENST00000330838.6_Silent_p.R1461R|ANKRD17_ENST00000509867.2_Silent_p.R1599R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.R1712R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTTGCCCACGCTTAGGAC	0.388000													49	65					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77617456G>T	ENST00000521891.2	+	2	1581	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G378V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G378V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G378V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCCGGCTGGCTTTGCCTTC	0.522000										HNSCC(33;0.089)			11	40					5.50884e-06	6.18976e-06	0.013537	1	0
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	A	rs148252365		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:47882629C>A	ENST00000289672.2	-	34	5426	c.5376G>T	c.(5374-5376)ctG>ctT	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468000													22	55					9.22233e-05	0.0001001	0.024334	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683365	140683365	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140683365C>T	ENST00000239451.4	-	1	247	c.68G>A	c.(67-69)tGt>tAt	p.C23Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGTCAGTACACACGCTGTCCC	0.597000													8	49					0	0	0.006214	0	0
ASTN1	460	broad.mit.edu	37	1	176915180	176915180	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:176915180C>T	ENST00000367654.2	-	13	2168	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D711N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D711N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D711N			O14525	ASTN1_HUMAN	astrotactin 1	719					cell migration|neuron cell-cell adhesion	integral to membrane		p.D711N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCACAGTCACTTCCCTCT	0.532000													11	58					0	0	0.008291	0	0
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76216217A>T	ENST00000370841.4	+	10	1368	c.931A>T	c.(931-933)Aag>Tag	p.K311*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.K122*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.K344*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.K275*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.K315*|ACADM_ENST00000481374.1_3'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	311					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.K311*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AACTTTCGGAAAGCTACTTGT	0.333000													6	11					0	0	0.021553	0	0
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:38188721A>G	ENST00000373048.4	-	10	1951	c.1952T>C	c.(1951-1953)cTt>cCt	p.L651P	EPHA10_ENST00000330210.7_Missense_Mutation_p.L146P|EPHA10_ENST00000427468.2_Missense_Mutation_p.L651P|EPHA10_ENST00000540011.1_Missense_Mutation_p.L146P|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	651	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.L652P(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCCTCCAAGGCTCCTCTC	0.617000													25	50					0	0	0.027356	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:128651782G>A	ENST00000281154.4	+	1	250	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	28					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.G28R(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCTGGCCGGCGGAGTCGCGGC	0.602000													39	36					0	0	0.007835	0	0
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152281538G>T	ENST00000368799.1	-	3	5859	c.5824C>A	c.(5824-5826)Cat>Aat	p.H1942N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAAGATGGTTTCTGGAA	0.572000									Ichthyosis				248	355					8.3777e-110	1.19983e-109	0.014410	1	0
NIN	51199	broad.mit.edu	37	14	51226916	51226916	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:51226916G>C	ENST00000245441.5	-	17	2248	c.2058C>G	c.(2056-2058)ctC>ctG	p.L686L	NIN_ENST00000382043.4_Silent_p.L686L|NIN_ENST00000389868.3_Silent_p.L686L|NIN_ENST00000382041.3_Silent_p.L686L|NIN_ENST00000324330.9_Silent_p.L686L|NIN_ENST00000530997.2_Silent_p.L686L|NIN_ENST00000453196.1_Silent_p.L686L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	686					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGCCTCCTTGAGCACTGCTG	0.458000			T	PDGFRB	MPD								7	166					0	0	0.001984	0	0
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53045355G>A	ENST00000309680.3	-	1	593	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.S191F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCAATGAAGGAGGCAAATTT	0.483000													12	43					0	0	0.010729	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927146	31927146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:31927146T>A	ENST00000375394.2	+	2	208	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	SKIV2L_ENST00000544581.1_5'UTR|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	32						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L32Q(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGGGAGCTGCTGAACTTG	0.587000													161	159					0	0	0.014410	0	0
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:108502082G>T	ENST00000368986.4	+	7	1519	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V308L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.V271L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTTACAAGAGGTGGTGGCTCG	0.423000													33	41					8.88839e-20	1.21071e-19	0.010818	1	0
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	C	G	rs145638188	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:76455187C>G	ENST00000389840.5	-	61	9839	c.9715G>C	c.(9715-9717)Gag>Cag	p.E3239Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3248Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607000													12	202					0	0	0.028581	0	0
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152083697C>G	ENST00000368804.1	-	2	1995	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E666Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGAGCCTCTCTTCCTCCTCC	0.652000													57	96					0	0	0.014410	0	0
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:75565368G>C	ENST00000299641.4	-	9	2324	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512000													5	37					0	0	0.014758	0	0
TSHR	7253	broad.mit.edu	37	14	81610458	81610458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:81610458C>A	ENST00000541158.2	+	11	2378	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	TSHR_ENST00000298171.2_Missense_Mutation_p.Q686K|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAGGCCTTCCAGAGGGATGT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	151					0.0135373	0.013942	0.013537	1	0
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:236918345C>T	ENST00000366578.4	+	17	2167	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ACTN2_ENST00000542672.1_Silent_p.I667I|ACTN2_ENST00000546208.1_Silent_p.I161I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	667					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.I667I(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCCAGATCACAGGAGCCC	0.557000													26	121					0	0	0.024334	0	0
RAD54L2	23132	broad.mit.edu	37	3	51663464	51663464	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:51663464T>C	ENST00000409535.1	+	4	581	c.456T>C	c.(454-456)ccT>ccC	p.P152P	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	152						nucleus	ATP binding|DNA binding|helicase activity	p.P152P(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCTATTCCTACTGTTCCGC	0.527000													3	14					0	0	0.004672	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730088	200730088	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:200730088C>G	ENST00000358823.2	+	2	531	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CAMSAP2_ENST00000236925.4_Silent_p.L87L|CAMSAP2_ENST00000413307.2_Silent_p.L87L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	87						cytoplasm|microtubule	protein binding	p.L87L(1)									CTGGGAGTCTCATTCTCAAGA	0.433000													12	86					0	0	0.013537	0	0
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:121098917G>A	ENST00000453000.1	+	5	1303	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CABP1_ENST00000351200.2_Missense_Mutation_p.R125Q|CABP1_ENST00000316803.3_Missense_Mutation_p.R328Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R185Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	328	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.R185Q(2)|p.R328Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGAGCTGCGAGAGGCTATG	0.542000													13	39					0	0	0.016723	0	0
TRIM37	4591	broad.mit.edu	37	17	57126552	57126552	+	Missense_Mutation	SNP	T	T	C	rs77807605		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57126552T>C	ENST00000376149.3	-	15	1960	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	TRIM37_ENST00000262294.7_Missense_Mutation_p.N506S|TRIM37_ENST00000393066.3_Missense_Mutation_p.N506S|TRIM37_ENST00000393065.2_Missense_Mutation_p.N472S			O94972	TRI37_HUMAN	tripartite motif containing 37	506	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.N506S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATAATCTTCATTCTGAATCTT	0.363000									Mulibrey Nanism				7	30					0	0	0.003080	0	0
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	G	C	rs144091327	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27603003G>C	ENST00000323703.6	-	2	366	c.168C>G	c.(166-168)gaC>gaG	p.D56E	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.D56E(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTTGCCGTCGCCTTCCT	0.582000													27	146					0	0	0.027356	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598331	58598331	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:58598331C>A	ENST00000240727.6	-	5	1086	c.687G>T	c.(685-687)tgG>tgT	p.W229C	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.W229C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.W94C|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.W285C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	229					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W285C(1)|p.W229C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGTGGCCCCACTCCCCCA	0.637000													15	55					1.5739e-10	1.964e-10	0.028581	1	0
C12orf44	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52467573A>G	ENST00000336854.4	+	3	617	c.139A>G	c.(139-141)Att>Gtt	p.I47V		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	47				I -> T (in Ref. 1; BAB13907).	autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	p.I47V(3)		endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACCTACTCCATTGGCACCGT	0.587000													17	31					0	0	0.028581	0	0
JAK1	3716	broad.mit.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:65321352C>G	ENST00000342505.4	-	11	1736	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGAAAGTTCTTGAACTGCT	0.502000			Mis		ALL								4	18					0	0	0.014758	0	0
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:4747357T>C	ENST00000545990.2	-	4	530	c.6A>G	c.(4-6)tcA>tcG	p.S2S	AKAP3_ENST00000228850.1_Silent_p.S2S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S2S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAACCTTTTCTGACATCTGGA	0.428000													13	37					0	0	0.013537	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:185801543G>C	ENST00000302277.6	+	4	2014	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474						intracellular	zinc ion binding	p.D474H(2)|p.D474N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAATAATCTAGATAAAAATAA	0.343000													30	25					0	0	0.007291	0	0
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:72680629G>T	ENST00000261180.4	+	2	1044	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W316C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGATGGATGGGTTACGGATC	0.418000													27	52					1.1804e-14	1.55603e-14	0.021523	1	0
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:99997442C>T	ENST00000520429.1	-	9	985	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CCNC_ENST00000523799.1_Silent_p.V95V|CCNC_ENST00000369220.4_Silent_p.V179V|CCNC_ENST00000523985.1_Silent_p.V95V|CCNC_ENST00000520371.1_Silent_p.V180V|CCNC_ENST00000518714.1_Silent_p.V180V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	180					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.V180V(2)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGTATCATTCACTATCCTCC	0.363000													4	7					0	0	0.009096	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													9	70					0	0	0.016723	0	0
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:146256096C>A	ENST00000367503.3	-	13	3335	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	SHPRH_ENST00000275233.7_Missense_Mutation_p.Q979H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000367505.2_Missense_Mutation_p.Q979H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	979					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.Q979H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GACAGCAGGCCTGTCTGAGCC	0.443000													17	18					4.14922e-12	5.29369e-12	0.028581	1	0
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50360333C>T	ENST00000391842.1	+	6	830	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTOV1_ENST00000600603.1_Silent_p.Y188Y|PTOV1_ENST00000599732.1_Silent_p.Y220Y|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Silent_p.Y188Y|PTOV1_ENST00000221557.9_Silent_p.Y188Y|PTOV1_ENST00000601675.1_Silent_p.Y220Y|AC018766.5_ENST00000593654.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.Y220Y(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617000													53	225					0	0	0.014410	0	0
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:169632775G>T	ENST00000366787.3	-	13	2165	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	639	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.A639D(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCGTCTTGGCTGCTTCCAG	0.597000													41	55					5.48756e-27	7.69081e-27	0.011902	1	0
CPSF2	53981	broad.mit.edu	37	14	92609541	92609541	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:92609541A>T	ENST00000298875.4	+	9	1328	c.1043A>T	c.(1042-1044)gAc>gTc	p.D348V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	348					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.D348V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTGTCAGGACCCTAAAAAC	0.423000													5	20					0	0	0.014758	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54708348	54708348	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:54708348C>T	ENST00000355221.3	-	8	1234	c.675G>A	c.(673-675)atG>atA	p.M225I	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.M203I	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.M225I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGAAAAAATCATTTGATACT	0.378000													5	34					0	0	0.021553	0	0
KRT19	3880	broad.mit.edu	37	17	39681167	39681167	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:39681167G>C	ENST00000361566.3	-	3	648	c.588C>G	c.(586-588)gcC>gcG	p.A196A		NM_002276.4	NP_002267.2			keratin 19									p.A196A(1)|p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTCGGTCCTGGCCAGGGTCA	0.572000													20	124					0	0	0.008871	0	0
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:58087249C>A	ENST00000196489.3	-	3	347	c.125G>T	c.(124-126)tGg>tTg	p.W42L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W42L(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGCCCCCATTCTTCCTG	0.537000													37	72					9.80977e-26	1.36752e-25	0.019004	1	0
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:89638909G>C	ENST00000369485.4	-	3	438	c.252C>G	c.(250-252)atC>atG	p.I84M	RNGTT_ENST00000265607.6_Missense_Mutation_p.I84M|RNGTT_ENST00000538899.1_Missense_Mutation_p.I24M|RNGTT_ENST00000369475.3_Missense_Mutation_p.I84M	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I84M(2)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTATATATTTGATTCCTTCTT	0.269000													4	13					0	0	0.014758	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855043	79855043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79855043C>T	ENST00000338682.3	-	5	1468	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	266						cytoplasm|nucleus		p.E266K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGAGCTCCTCTTGCAATGAA	0.517000													7	49					0	0	0.001984	0	0
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:27420806G>A	ENST00000211936.6	-	6	816	c.532C>T	c.(532-534)Cct>Tct	p.P178S	ZNF184_ENST00000377419.1_Missense_Mutation_p.P178S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P178S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTATTTACAGGGCCTTTTTCC	0.403000													55	64					0	0	0.014410	0	0
ATP4A	495	broad.mit.edu	37	19	36053418	36053418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:36053418G>T	ENST00000262623.3	-	4	367	c.339C>A	c.(337-339)tgC>tgA	p.C113*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	113					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C113*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACATGAGGCACTGCAGGC	0.662000													5	22					0.014758	0.0151397	0.014758	1	0
PDHX	8050	broad.mit.edu	37	11	34969155	34969155	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:34969155T>C	ENST00000448838.3	+	3	539		c.e3+2		PDHX_ENST00000430469.2_Splice_Site|PDHX_ENST00000227868.4_Splice_Site	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AAAATCGTGGTAAGTTTTTAT	0.348000													3	59					0	0	0.004672	0	0
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:40095333G>T	ENST00000591658.1	+	0	1034							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L322F(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAAACTTGTATAGCTGCA	0.512000													8	23					5.18039e-06	5.84077e-06	0.003080	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140515957A>C	ENST00000231134.5	+	1	1158	c.941A>C	c.(940-942)tAt>tCt	p.Y314S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y314S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCATATTATAACGTGGAA	0.453000													25	104					0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:110457536G>A	ENST00000378402.5	+	38	5542	c.5438G>A	c.(5437-5439)aGt>aAt	p.S1813N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1813	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1815N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTGTTAGTGTTGTGGTG	0.468000										HNSCC(38;0.096)			13	33					0	0	0.016723	0	0
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:84339310T>C	ENST00000295488.3	-	16	3161	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	HELQ_ENST00000510985.1_Missense_Mutation_p.K933R	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1000							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K1000R(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTCAGCTTCTTGGTAAGTTC	0.348000								Other identified genes with known or suspected DNA repair function					42	46					0	0	0.013114	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:241439489C>A	ENST00000391987.1	-	15	2791	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E570*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E898*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E809*|ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E579*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E588*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E585*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E711*			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							zinc ion binding	p.E809*(2)|p.E585*(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGAACGTCTCGCGCTCTGCT	0.677000													13	16					2.27111e-07	2.64256e-07	0.013537	1	0
MED12L	116931	broad.mit.edu	37	3	150906262	150906262	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:150906262C>T	ENST00000474524.1	+	12	1786	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	MED12L_ENST00000422248.2_Missense_Mutation_p.S583F|MED12L_ENST00000309237.4_Missense_Mutation_p.S583F|MED12L_ENST00000273432.4_Missense_Mutation_p.S443F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	583					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S583F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCCCCTCTTTGTGTAAG	0.333000													13	87					0	0	0.028581	0	0
DNAH7	56171	broad.mit.edu	37	2	196664137	196664137	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:196664137T>A	ENST00000312428.6	-	55	10336	c.10236A>T	c.(10234-10236)ccA>ccT	p.P3412P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3412	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3412P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAGGGGGGTGGTTCAATGA	0.428000													11	81					0	0	0.010729	0	0
DNHD1	144132	broad.mit.edu	37	11	6588332	6588332	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6588332A>T	ENST00000254579.6	+	36	12157	c.11593A>T	c.(11593-11595)Agc>Tgc	p.S3865C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3865C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3865					microtubule-based movement	dynein complex	microtubule motor activity	p.S3865C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGGCCCTAAGCCAACTGCA	0.507000													14	73					0	0	0.016723	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357336	49357336	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49357336C>G	ENST00000263265.6	-	11	1659	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	PLEKHA4_ENST00000355496.5_Silent_p.L343L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	368						cytoplasm|membrane	1-phosphatidylinositol binding	p.L368L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ACAACTTGGTCAGCAGCGTCT	0.617000													4	51					0	0	0.009096	0	0
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:89035252C>G	ENST00000283646.4	+	6	649	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.F198L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCGCTGATTTCAGGTACAGTT	0.517000													52	105					0	0	0.014410	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:21971203A>C	ENST00000579755.1	-	2	490	c.198T>G	c.(196-198)caT>caG	p.H66Q	CDKN2A_ENST00000479692.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.H66Q|CDKN2A_ENST00000304494.5_Missense_Mutation_p.M52R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H107Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M52R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000494262.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000498628.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000497750.1_Start_Codon_SNP_p.M1R			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> Y (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M52K(4)|p.M52R(4)|p.M52fs*2(3)|p.H107Q(2)|p.0(1)|p.V28_V51del(1)|p.H107fs*>68(1)|p.M52fs*68(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCATCATCATGACCTGCCA	0.672000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	9					0	0	0.008291	0	0
MALAT1	378938	broad.mit.edu	37	11	65272908	65272908	+	RNA	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:65272908A>T	ENST00000534336.1	+	0	7676					NR_002819.2																						TTAATAATAAAGCCCAAATCT	0.473000													14	90					0	0	0.016723	0	0
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:176838157G>T	ENST00000367654.2	-	22	3507	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1157E|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1157E			O14525	ASTN1_HUMAN	astrotactin 1	1165					cell migration|neuron cell-cell adhesion	integral to membrane		p.A1157E(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATCTTGTCTGCTATTTCTGA	0.383000													18	10					1.02788e-11	1.30631e-11	0.004990	1	0
FAT3	120114	broad.mit.edu	37	11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92532943A>G	ENST00000298047.6	+	9	6781	c.6764A>G	c.(6763-6765)aAg>aGg	p.K2255R	FAT3_ENST00000525166.1_Missense_Mutation_p.K2105R|FAT3_ENST00000409404.2_Missense_Mutation_p.K2255R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2255	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K2255R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428000										TCGA Ovarian(4;0.039)			5	19					0	0	0.014758	0	0
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22599591G>C	ENST00000403807.3	+	2	419	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	VPREB1_ENST00000302273.2_Missense_Mutation_p.A93P			P12018	VPREB_HUMAN	pre-B lymphocyte 1	94	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CAAAGATGTGGCCAGGAACAG	0.592000													33	54					0	0	0.010818	0	0
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:315104G>T	ENST00000408968.3	+	2	687	c.369G>T	c.(367-369)cgG>cgT	p.R123R	IFITM1_ENST00000328221.5_Silent_p.R123R|IFITM1_ENST00000528780.1_Silent_p.R123R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	p.R123R(2)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAAAACGGGGTTACTAGT	0.527000													18	59					4.63292e-17	6.24562e-17	0.008871	1	0
CACNA1G	8913	broad.mit.edu	37	17	48655845	48655845	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:48655845G>T	ENST00000352832.5	+	9	2593	c.2221G>T	c.(2221-2223)Gac>Tac	p.D741Y	CACNA1G_ENST00000502264.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D741Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	741					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGATTGTGGACAGCAAGTA	0.597000													11	70					3.86212e-05	4.24476e-05	0.008291	1	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247836167G>T	ENST00000359688.2	-	1	198	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													14	10					1.05317e-09	1.29203e-09	0.020292	1	0
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:994187C>T	ENST00000537687.1	+	19	5640	c.4997C>T	c.(4996-4998)tCa>tTa	p.S1666L	WNK1_ENST00000315939.6_Missense_Mutation_p.S1406L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1904L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1159L|WNK1_ENST00000340908.4_Missense_Mutation_p.S999L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S1406L(2)|p.S1666L(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCTGAATCACCAGTACTT	0.498000													19	53					0	0	0.007413	0	0
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:26545530A>G	ENST00000377575.2	+	2	273	c.96A>G	c.(94-96)ccA>ccG	p.P32P		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding	p.P32P(2)		lung(2)|skin(1)	3						CTGCTAAACCAGCTCCTCCAA	0.502000													21	24					0	0	0.008871	0	0
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493000													20	33					0	0	0.010504	0	0
BFSP1	631	broad.mit.edu	37	20	17475142	17475142	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:17475142C>A	ENST00000377873.3	-	8	1614	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	BFSP1_ENST00000544874.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000536626.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000377868.2_Missense_Mutation_p.Q400H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	525	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.Q525H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCAGACCCACCTGCCCATTCT	0.547000													28	55					6.32553e-13	8.14171e-13	0.024334	1	0
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:43223121C>T	ENST00000255226.6	+	9	1967	c.1151C>T	c.(1150-1152)gCa>gTa	p.A384V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A384V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	384						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A384V(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACATGGAAGCAGCCATCTCC	0.542000													8	27					0	0	0.004482	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42335826G>C	ENST00000262418.6	-	10	1197	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	348					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q348E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCTGGACTGATAGCGCCTT	0.637000													24	121					0	0	0.016522	0	0
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:39884738G>T	ENST00000341184.6	+	2	1601	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	462					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.G462G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCGCACCGGGGGCTGGTTCG	0.627000													27	21					9.86323e-18	1.3324e-17	0.021523	1	0
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:104171922G>T	ENST00000374861.3	+	3	2114	c.1830G>T	c.(1828-1830)tgG>tgT	p.W610C	ZNF189_ENST00000339664.2_Missense_Mutation_p.W624C|ZNF189_ENST00000259395.4_Missense_Mutation_p.W582C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W624C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACAGCATGGATGCAATAAA	0.393000													7	23					2.0095e-06	2.28138e-06	0.001984	1	0
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:53103547C>T	ENST00000408890.4	+	1	199	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	61								p.S61S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACTCAGAGCCATATTCAGT	0.701000													26	54					0	0	0.018920	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716438	142716438	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:142716438C>A	ENST00000381779.4	-	2	2712	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E829D|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E829D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	829						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTTGCTCCTCAAGGACCT	0.403000													7	34					7.48243e-07	8.57662e-07	0.006214	1	0
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:56544115G>C	ENST00000390649.3	+	8	2415	c.2415G>C	c.(2413-2415)ctG>ctC	p.L805L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	805						mitochondrion|nucleolus	ATP binding	p.L805L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGCCAAGCTGAGGCATCCCA	0.607000													21	99					0	0	0.012319	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530479	140530479	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140530479T>A	ENST00000231136.1	+	1	641	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L78Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L214Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGCGCTGGATGGCGGG	0.597000													20	46					0	0	0.008871	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777984	27777984	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:27777984G>A	ENST00000369163.2	+	1	143	c.133G>A	c.(133-135)Ggt>Agt	p.G45S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	45					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTATCGGCCTGGTACAGTGGC	0.652000													4	57					0	0	0.014758	0	0
ATP1A2	477	broad.mit.edu	37	1	160098582	160098582	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160098582C>A	ENST00000361216.3	+	9	1247	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.V386V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	386					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.V386V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGACCGTCGCCCACATGT	0.597000													11	83					0.00010058	0.000108809	0.013537	1	0
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:129357178G>T	ENST00000393232.1	+	9	1302	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	NRF1_ENST00000311967.2_Missense_Mutation_p.E395D|NRF1_ENST00000393231.3_Missense_Mutation_p.E395D|NRF1_ENST00000223190.4_Missense_Mutation_p.E395D|NRF1_ENST00000393230.2_Missense_Mutation_p.E395D|NRF1_ENST00000539636.1_Missense_Mutation_p.E234D|NRF1_ENST00000353868.4_Missense_Mutation_p.E329D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E395D(2)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCTCAGGAGATGCAGCAGG	0.572000													16	23					1.3612e-06	1.5521e-06	0.024245	1	0
NOP14	8602	broad.mit.edu	37	4	2948195	2948195	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:2948195C>T	ENST00000416614.2	-	11	1644	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E527K|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E527K|NOP14_ENST00000314262.6_Missense_Mutation_p.E527K|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	527					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|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 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTTCCATCTCATGCATCGCA	0.473000													5	66					0	0	0.001984	0	0
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51738435G>T	ENST00000436584.2	+	4	443	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	CD33_ENST00000391796.3_Missense_Mutation_p.V257L|CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000262262.4_Missense_Mutation_p.V257L			P20138	CD33_HUMAN	CD33 molecule	257	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483000													15	35					2.48551e-13	3.21813e-13	0.004990	1	0
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:110098260G>A	ENST00000230124.3	+	16	2010	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	FIG4_ENST00000441478.2_Missense_Mutation_p.R352K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	629					cell death	endosome membrane	protein binding	p.R629K(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCAACAAGAAGAAGGTATTTT	0.353000													6	13					0	0	0.021553	0	0
CREB5	9586	broad.mit.edu	37	7	28848855	28848855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:28848855C>T	ENST00000357727.2	+	9	1468	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q221*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q353*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q327*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	360					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q360*(1)|p.Q221*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGCCACCCCAGCCCACAGG	0.637000													10	92					0	0	0.008291	0	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													26	77					0	0	0.024334	0	0
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:27720714C>T	ENST00000374024.3	+	2	511	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		p.L138L(2)		endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTACCTTTCTCTGTACAATGC	0.592000													60	74					0	0	0.014410	0	0
DEGS1	8560	broad.mit.edu	37	1	224377623	224377623	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:224377623G>A	ENST00000323699.4	+	2	593	c.427G>A	c.(427-429)Gat>Aat	p.D143N	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.D143N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	143					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	p.D143N(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGTCGATGTAGATATTCCTAC	0.408000													14	87					0	0	0.016723	0	0
SOGA3	387104	broad.mit.edu	37	6	127796797	127796797	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:127796797G>A	ENST00000556132.1	-	6	3238	c.2374C>T	c.(2374-2376)Ctc>Ttc	p.L792F	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.L792F|SOGA3_ENST00000465909.2_Missense_Mutation_p.L792F|SOGA3_ENST00000525778.1_Missense_Mutation_p.L792F|SOGA3_ENST00000481848.2_Missense_Mutation_p.L792F	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	792						integral to membrane		p.L792F(1)									GTGGGCGTGAGGCAGCGGATG	0.697000													42	33					0	0	0.007835	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143955876T>A	ENST00000292427.4	-	9	1457	c.1425A>T	c.(1423-1425)acA>acT	p.T475T	CYP11B1_ENST00000517471.1_Silent_p.T409T|CYP11B1_ENST00000377675.3_Silent_p.T546T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	475					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T475T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGTTAGTGTCTCCACCT	0.542000									Familial Hyperaldosteronism type I				25	61					0	0	0.007291	0	0
HRH2	3274	broad.mit.edu	37	5	175111256	175111256	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:175111256G>C	ENST00000231683.2	+	1	2793	c.1020G>C	c.(1018-1020)ctG>ctC	p.L340L	HRH2_ENST00000377291.2_Silent_p.L340L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	340					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGAAACCCCTGAAGCTCCAGG	0.592000													9	102					0	0	0.006214	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													36	157					0	0	0.013726	0	0
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:52511514C>A	ENST00000242839.4	-	19	4075	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ATP7B_ENST00000344297.5_Missense_Mutation_p.V1100L|ATP7B_ENST00000400370.3_Missense_Mutation_p.V877L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V1229L|ATP7B_ENST00000417240.2_Missense_Mutation_p.V518L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V1242L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V1196L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.V1307L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTAGCCACCACATCCAGCAAA	0.552000									Wilson disease				41	54					8.16277e-20	1.11303e-19	0.027894	1	0
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22599589T>G	ENST00000403807.3	+	2	417	c.278T>G	c.(277-279)gTg>gGg	p.V93G	VPREB1_ENST00000302273.2_Missense_Mutation_p.V92G			P12018	VPREB_HUMAN	pre-B lymphocyte 1	93	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.V93G(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCAAAGATGTGGCCAGGAAC	0.592000													33	58					0	0	0.010818	0	0
DAK	26007	broad.mit.edu	37	11	61106638	61106638	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61106638G>A	ENST00000394900.3	+	4	523	c.294G>A	c.(292-294)caG>caA	p.Q98Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	98	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.Q98Q(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCGTGGCCCAGGCCGGCACAG	0.672000													33	50					0	0	0.012213	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:75003878G>T	ENST00000373359.2	-	1	1201	c.1009C>A	c.(1009-1011)Cta>Ata	p.L337I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2.							p.L337I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCCAATAGCTCATCCTGA	0.418000													9	36					0.00448238	0.00466039	0.004482	1	0
HSP90B1	7184	broad.mit.edu	37	12	104340715	104340715	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:104340715C>G	ENST00000299767.5	+	16	2440	c.2258C>G	c.(2257-2259)gCa>gGa	p.A753G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	753					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GACCCTGATGCAAAGGTTTGT	0.453000													5	23					0	0	0.021553	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:57995949C>T	ENST00000316770.2	-	1	441	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612000													13	22					0	0	0.013537	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:121417151T>C	ENST00000393667.3	-	13	2329	c.2219A>G	c.(2218-2220)aAc>aGc	p.N740S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N735S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	735					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.N735S(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCACTGCTGTTGTTGTCAGC	0.388000													12	34					0	0	0.010729	0	0
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166211047G>A	ENST00000375437.2	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1089K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTCGTGGATGAAAGTGATTA	0.373000													8	40					0	0	0.004482	0	0
YPEL2	388403	broad.mit.edu	37	17	57430790	57430790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57430790C>G	ENST00000312655.4	+	2	338	c.20C>G	c.(19-21)tCg>tGg	p.S7W	YPEL2_ENST00000585166.1_Missense_Mutation_p.S7W|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	7						nucleolus		p.S7W(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGACAAGATCGAAGACTTTC	0.547000													10	61					0	0	0.006214	0	0
KLHL14	57565	broad.mit.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						cytosol|endoplasmic reticulum membrane		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378000													10	54					0	0	0.008291	0	0
ADAM10	102	broad.mit.edu	37	15	58957351	58957351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:58957351G>C	ENST00000260408.3	-	5	973	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	177					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.S177*(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCAAATACTGAATGATCTGC	0.368000													6	36					0	0	0.021553	0	0
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:15517098G>C	ENST00000382020.4	+	4	717	c.509G>C	c.(508-510)aGa>aCa	p.R170T	TUSC3_ENST00000506802.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.R170T|TUSC3_ENST00000503731.1_Missense_Mutation_p.R170T	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	170					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R170T(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GACCTCCAAAGAATTGGATTT	0.393000													5	15					0	0	0.001984	0	0
EPHA3	2042	broad.mit.edu	37	3	89528582	89528582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:89528582C>G	ENST00000336596.2	+	17	3107	c.2882C>G	c.(2881-2883)cCa>cGa	p.P961R	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	961	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.P961R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGTTGGGCCACAGAAGAAG	0.428000										TSP Lung(6;0.00050)			3	22					0	0	0.004672	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593530	45593530	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:45593530C>T	ENST00000270257.4	+	3	405	c.158C>T	c.(157-159)tCc>tTc	p.S53F	GEMIN7_ENST00000391951.2_Missense_Mutation_p.S53F|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.S53F|GEMIN7_ENST00000591747.1_Missense_Mutation_p.S53F|CTB-179K24.4_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	53					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	p.S53F(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TCCCTGGAATCCCAGGAGCAG	0.627000													12	63					0	0	0.010729	0	0
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156618623C>T	ENST00000329117.4	+	6	1369	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	BCAN_ENST00000361588.5_Missense_Mutation_p.H345Y|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	345	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.H345Y(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAATAAGCACAGCCGCTT	0.577000													111	100					0	0	0.014410	0	0
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:217234937C>T	ENST00000273067.4	-	1	1813	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	16						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.C16Y(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGCCGGAGCAGCAGCACCA	0.617000													10	14					0	0	0.006214	0	0
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:61554281T>A	ENST00000263102.6	-	8	1411	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCCGGGGAATTGTAATAAGAC	0.448000			T	RET	NSCLC								21	29					0	0	0.010504	0	0
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:135440237C>T	ENST00000443774.1	-	1	59	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522000													7	165					0	0	0.003080	0	0
FLT1	2321	broad.mit.edu	37	13	28880878	28880878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:28880878G>T	ENST00000282397.4	-	29	4003	c.3752C>A	c.(3751-3753)gCc>gAc	p.A1251D	FLT1_ENST00000543394.1_Missense_Mutation_p.A274D|FLT1_ENST00000540678.1_Missense_Mutation_p.A469D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1251					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A1251D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATGGGAGAGGCCAACAGAGT	0.547000													6	33					5.9392e-07	6.81966e-07	0.021553	1	0
PIGT	51604	broad.mit.edu	37	20	44054330	44054330	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:44054330C>G	ENST00000279036.6	+	12	1681	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PIGT_ENST00000372689.5_Missense_Mutation_p.T467S|PIGT_ENST00000545755.1_Missense_Mutation_p.T272S|PIGT_ENST00000535404.1_Missense_Mutation_p.T379S|PIGT_ENST00000543458.2_Missense_Mutation_p.T478S|PIGT_ENST00000341555.5_Missense_Mutation_p.T340S|PIGT_ENST00000279035.9_Missense_Mutation_p.T432S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	534					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T534S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCACGTGCACTGTGGTGGCC	0.612000													8	60					0	0	0.003080	0	0
VPS4B	9525	broad.mit.edu	37	18	61060776	61060776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61060776C>T	ENST00000238497.5	-	10	1302	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	367					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.G367R(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGGGAAGGTCCGCGAACCTGA	0.388000													6	39					0	0	0.003080	0	0
TTYH2	94015	broad.mit.edu	37	17	72233616	72233616	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72233616A>T	ENST00000269346.4	+	4	672	c.598A>T	c.(598-600)Aag>Tag	p.K200*	TTYH2_ENST00000529107.1_Nonsense_Mutation_p.K179*	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	200						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.K200*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGCTGACCAAGCTATCCGA	0.572000													11	55					0	0	0.010729	0	0
POTEF	728378	broad.mit.edu	37	2	130877618	130877618	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:130877618G>C	ENST00000357462.5	-	1	564	c.471C>G	c.(469-471)ctC>ctG	p.L157L	POTEF_ENST00000360967.5_Silent_p.L157L|POTEF_ENST00000409914.2_Silent_p.L157L|POTEF_ENST00000361163.4_Silent_p.L157L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	157						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCATGACGATGAGATCCTTTC	0.577000													6	83					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:34033349G>C	ENST00000373381.4	-	53	8400	c.8224C>G	c.(8224-8226)Cct>Gct	p.P2742A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537000													3	16					0	0	0.004672	0	0
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:153796519T>G	ENST00000297107.6	+	12	1936	c.1799T>G	c.(1798-1800)tTc>tGc	p.F600C	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F273C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F538C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	600						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F600C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTGGAAAAATTCAATAGGAAC	0.542000													19	56					0	0	0.007413	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:75014861G>A	ENST00000379727.3	-	2	776	c.578C>T	c.(577-579)tCa>tTa	p.S193L	CYP1A1_ENST00000395048.2_Missense_Mutation_p.S193L|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S193L|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S193L|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	193					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.S193L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATTGGTCACTGATACCACCAC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				27	54					0	0	0.027356	0	0
LINC01098	285501	broad.mit.edu	37	4	178897030	178897030	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:178897030C>T	ENST00000507870.1	+	5	695	c.233C>T	c.(232-234)tCa>tTa	p.S78L															p.S78L(4)		lung(8)|prostate(1)	9						TTGAGCAAGTCAATGTATGTT	0.403000													11	33					0	0	0.013537	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112972	39112972	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:39112972G>C	ENST00000216044.5	+	4	1034	c.801G>C	c.(799-801)atG>atC	p.M267I		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	267					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.M267I(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCTTCGGCATGACAGGCCATC	0.552000													8	81					0	0	0.003080	0	0
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000438568.2_Missense_Mutation_p.R157K|TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000369054.2_Missense_Mutation_p.E199K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532000													17	129					0	0	0.006122	0	0
TBC1D31	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:124113096A>C	ENST00000287380.1	+	7	971	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q294P|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q294P|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q189P	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.Q294P(2)									ATCAATATGCAGACTTGTAAA	0.353000													8	25					0	0	0.003080	0	0
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56949837G>C	ENST00000497933.1	+	1	617	c.470G>C	c.(469-471)cGc>cCc	p.R157P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127						integral to membrane		p.R157P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGCCAAGCGCTTGGCACAC	0.577000													9	26					0	0	0.004482	0	0
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:135651315G>T	ENST00000513104.1	-	3	1215	c.933C>A	c.(931-933)atC>atA	p.I311I	TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	311					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.I311I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCGAGTTTGATCCGGCTCA	0.517000													6	21					5.18039e-06	5.84077e-06	0.003080	1	0
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:65849892C>T	ENST00000395325.3	+	6	669	c.512C>T	c.(511-513)tCa>tTa	p.S171L	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S228L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S158L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.S171L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGGGCGGCATCATCAATTCTG	0.403000													14	51					0	0	0.016723	0	0
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:116426548C>A	ENST00000395715.3	-	7	4165	c.3588G>T	c.(3586-3588)gaG>gaT	p.E1196D	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1187D|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1183D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E937D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1183	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1196D(2)|p.E1183D(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCGTTTTCTCCTTGGAGG	0.413000									Langer-Giedion syndrome				10	38					2.17888e-05	2.41503e-05	0.006214	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565707	33565707	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:33565707T>A	ENST00000321505.4	+	1	1887	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D569E|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D569E					KIAA1549-like									p.D569E(2)									ATGGAACAGATACAGGTTCTG	0.453000													12	62					0	0	0.010729	0	0
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:136872465C>G	ENST00000409817.1	-	1	1348	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CXCR4_ENST00000241393.3_Missense_Mutation_p.E345Q|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	345					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.E349Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTGAAGACTCAGACTCAGTG	0.403000													99	268					0	0	0.014410	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324415	52324415	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:52324415C>G	ENST00000354773.4	+	2	153	c.57C>G	c.(55-57)ctC>ctG	p.L19L	GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.L19L|GLYCTK_ENST00000305690.8_Silent_p.L19L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.L19L|GLYCTK_ENST00000473032.1_Silent_p.L19L	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	19					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.L19L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCATCCACTCCTCTGGCGGG	0.682000													9	29					0	0	0.006214	0	0
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:108576016C>A	ENST00000265174.4	-	8	1208	c.936G>T	c.(934-936)gcG>gcT	p.A312A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.A312A(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTTCATGAGTCGCAGTCAGAA	0.458000													29	35					4.59853e-10	5.65209e-10	0.027356	1	0
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:26919437C>T	ENST00000321765.5	-	3	1157	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.M275I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCTTTCCTCCATAGCTCCAT	0.473000													19	43					0	0	0.007413	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:78651442C>G	ENST00000286627.5	-	25	3961	c.3009G>C	c.(3007-3009)cgG>cgC	p.R1003R	KCNMA1_ENST00000354353.5_Silent_p.R1064R|KCNMA1_ENST00000372440.1_Silent_p.R1003R|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.R1044R|KCNMA1_ENST00000404771.3_Silent_p.R1061R|KCNMA1_ENST00000406533.3_Silent_p.R1065R|KCNMA1_ENST00000286628.8_Silent_p.R1061R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1030R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1003R(2)|p.R1065R(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCACCAGGGTCCGTATCAGGG	0.542000													14	38					0	0	0.020292	0	0
USP1	7398	broad.mit.edu	37	1	62910485	62910485	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:62910485C>G	ENST00000339950.4	+	6	1449	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	USP1_ENST00000371146.1_Missense_Mutation_p.Q212E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	212					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q212E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAAACATTCAAGAAACATG	0.338000													5	29					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179641721C>A	ENST00000589042.1	-	28	5094	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y	TTN_ENST00000460472.2_Missense_Mutation_p.D1578Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1624Y|TTN_ENST00000359218.5_Missense_Mutation_p.D1578Y|TTN_ENST00000591111.1_Missense_Mutation_p.D1624Y|TTN_ENST00000342175.6_Missense_Mutation_p.D1578Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1624Y|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1358	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D1578Y(6)|p.D1624Y(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCAGAATCTTGGCTGACA	0.423000													26	36					9.57634e-11	1.19956e-10	0.018920	1	0
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54675174C>G	ENST00000546500.1	+	2	635	c.20C>G	c.(19-21)cCt>cGt	p.P7R	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P7R|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P7R|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P7R			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.P7R(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTCTAGTCTCCTAAAGAGCCC	0.483000													19	38					0	0	0.007413	0	0
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:15268584T>C	ENST00000546332.1	-	6	1019	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.Q179R|ASB9_ENST00000380488.4_Missense_Mutation_p.Q179R|ASB9_ENST00000380483.3_Missense_Mutation_p.Q169R	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	179					intracellular signal transduction			p.Q179R(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTCTCTGTTGGTTTTC	0.403000													16	43					0	0	0.004990	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102039910	102039910	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:102039910T>C	ENST00000441611.1	-	3	456	c.239A>G	c.(238-240)tAc>tGc	p.Y80C	BLOC1S2_ENST00000370372.2_Missense_Mutation_p.Y123C			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	p.Y123C(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		ATCCAACTTGTAAGCTGCCTG	0.368000													7	43					0	0	0.003080	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137061	126137061	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:126137061G>T	ENST00000299308.3	+	8	1982	c.1974G>T	c.(1972-1974)gcG>gcT	p.A658A	TMEM132B_ENST00000535886.1_Silent_p.A170A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658			A -> V (in dbSNP:rs16919359).			integral to membrane		p.A658A(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACCATCGCGGAGCTGGGAG	0.587000													23	43					1.1804e-14	1.55603e-14	0.021523	1	0
COL3A1	1281	broad.mit.edu	37	2	189839268	189839268	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:189839268C>A	ENST00000304636.3	+	1	223	c.53C>A	c.(52-54)cCc>cAc	p.P18H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P18H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	18					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P18H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTTCATCCCACTATTATT	0.408000													6	36					0.00198382	0.00207745	0.001984	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77768223C>T	ENST00000521891.2	+	10	9514	c.9066C>T	c.(9064-9066)atC>atT	p.I3022I	ZFHX4_ENST00000455469.2_Silent_p.I2977I|ZFHX4_ENST00000518282.1_Silent_p.I2996I|ZFHX4_ENST00000050961.6_Silent_p.I2977I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2977						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I3006I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGTCCATCAGAGATCACA	0.507000										HNSCC(33;0.089)			11	23					0	0	0.010729	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													14	69					0	0	0.016723	0	0
TTN	7273	broad.mit.edu	37	2	179622626	179622626	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179622626C>T	ENST00000589042.1	-	45	10545	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3395K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3395K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTATTTTCTTCAAATTTG	0.398000													12	50					0	0	0.016723	0	0
CFLAR	8837	broad.mit.edu	37	2	201994633	201994633	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:201994633A>C	ENST00000395148.2	+	2	257	c.45A>C	c.(43-45)acA>acC	p.T15T	CFLAR_ENST00000355558.4_Silent_p.T15T|CFLAR_ENST00000423241.2_Silent_p.T15T|CFLAR_ENST00000341582.6_Silent_p.T15T|CFLAR_ENST00000341222.6_Silent_p.T15T|CFLAR_ENST00000342795.5_Silent_p.T15T|CFLAR_ENST00000340870.5_Silent_p.T15T|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Silent_p.T15T|CFLAR_ENST00000457277.1_Silent_p.T15T|CFLAR_ENST00000440180.1_Silent_p.T15T			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	15	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.T15T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CACTTGATACAGATGAGAAGG	0.478000													14	179					0	0	0.020292	0	0
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:11485703T>A	ENST00000423059.3	-	13	3300	c.3049A>T	c.(3049-3051)Aga>Tga	p.R1017*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10.					integral to membrane		p.R1017*(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTTACATCTAGATGTTTCC	0.428000										HNSCC(18;0.044)			27	68					0	0	0.006320	0	0
PSG11	5680	broad.mit.edu	37	19	43530537	43530537	+	Translation_Start_Site	SNP	G	G	A	rs1064913		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43530537G>A	ENST00000401740.1	-	0	91				PSG11_ENST00000306322.7_De_novo_Start_OutOfFrame|PSG11_ENST00000403486.1_De_novo_Start_OutOfFrame|PSG11_ENST00000320078.7_De_novo_Start_OutOfFrame			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTCTGCTGCGTGCATGTTCT	0.582000													37	20					0	0	0.017118	0	0
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:47684541G>T	ENST00000283303.2	+	7	2190		c.e7-1		GPR115_ENST00000371220.1_Splice_Site|GPR115_ENST00000327753.3_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTTGCCACAGGGTTTTTTCA	0.393000													19	21					1.00905e-13	1.31427e-13	0.008871	1	0
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:113323366G>C	ENST00000297405.5	-	50	7970	c.7726C>G	c.(7726-7728)Cct>Gct	p.P2576A	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2472A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2506A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2536A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2576	Sushi 14.					integral to membrane|plasma membrane		p.P2536A(2)|p.P2576A(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATGAGGTGGGGATTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	31					0	0	0.010729	0	0
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:31425212T>G	ENST00000373747.3	-	16	2694		c.e16-2		PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000440538.2_Splice_Site|PUM1_ENST00000257075.5_Splice_Site|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000423018.2_Splice_Site|PUM1_ENST00000373741.4_Splice_Site	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGAATGAATCTGAAGTACAAA	0.473000													21	37					0	0	0.010504	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:31850252C>T	ENST00000397525.1	-	10	1613	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E143K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E301K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E464K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	464						nucleus	protein binding|protein transporter activity	p.E464K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGTCTCTTCTAGGTGT	0.483000													13	63					0	0	0.013537	0	0
UFL1	23376	broad.mit.edu	37	6	96997630	96997630	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:96997630G>T	ENST00000369278.4	+	15	1839	c.1773G>T	c.(1771-1773)tcG>tcT	p.S591S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									TCTTAGCTTCGGATTTAATGA	0.398000													10	17					4.84862e-15	6.43043e-15	0.010729	1	0
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:21723442G>A	ENST00000328843.6	+	33	5553	c.5522G>A	c.(5521-5523)cGt>cAt	p.R1841H	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443000									Kartagener syndrome				13	137					0	0	0.024245	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509988	41509988	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:41509988G>A	ENST00000324071.4	+	2	261	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CYP2B6_ENST00000330446.5_Missense_Mutation_p.R45Q|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.R9Q	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	85					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R85Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCATACGGGAGGCCCTT	0.582000													17	91					0	0	0.028581	0	0
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150935522C>G	ENST00000271640.5	+	19	3554	c.3364C>G	c.(3364-3366)Cag>Gag	p.Q1122E	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1122E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1122	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q1122E(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTGCTGGTCAGACTTCGGC	0.532000													23	31					0	0	0.012319	0	0
LAMP5	24141	broad.mit.edu	37	20	9498764	9498764	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:9498764C>G	ENST00000246070.2	+	5	1045	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q141E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	185						integral to membrane		p.Q185E(1)									GTGTCAAGCTCAACAAACCAT	0.522000													8	61					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:69640530A>G	ENST00000370598.1	+	4	1658	c.837A>G	c.(835-837)caA>caG	p.Q279Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q279Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAGGAACAAGCTGATGCTG	0.333000													3	8					0	0	0.004672	0	0
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:151789697G>T	ENST00000367294.3	+	5	1037	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	C6orf211_ENST00000545879.1_Missense_Mutation_p.V141F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	260							protein binding	p.V260F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTGAGCTTGTTACAGATTT	0.358000													48	43					1.51926e-22	2.10001e-22	0.014410	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105419147G>T	ENST00000333244.5	-	7	2760	c.2641C>A	c.(2641-2643)Ctc>Atc	p.L881I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus		p.L881I(2)		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)			TGAATGCTGAGGTCAGTGGCC	0.652000													62	231					6.20203e-27	8.68285e-27	0.014410	1	0
ABCC4	10257	broad.mit.edu	37	13	95862948	95862948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:95862948G>A	ENST00000376887.4	-	5	733	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q132*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q207*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q207*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	207	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Q207*(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGCTTACCTGATCAAACTTG	0.458000													6	48					0	0	0.021553	0	0
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:21860668C>G	ENST00000399982.2	-	33	6833	c.6769G>C	c.(6769-6771)Gat>Cat	p.D2257H	CHD8_ENST00000557364.1_Missense_Mutation_p.D2257H|CHD8_ENST00000430710.3_Missense_Mutation_p.D1978H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.D2257H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCTTACATCTTTGATTTGA	0.463000													20	104					0	0	0.010504	0	0
KRT23	25984	broad.mit.edu	37	17	39092742	39092742	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:39092742C>A	ENST00000209718.3	-	2	538	c.114G>T	c.(112-114)gcG>gcT	p.A38A	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	38	Head.					intermediate filament	structural molecule activity	p.A38A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCTCCCCCCGCACCGCCAT	0.697000													31	59					1.13719e-10	1.42176e-10	0.008361	1	0
MIB1	57534	broad.mit.edu	37	18	19359454	19359454	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:19359454G>A	ENST00000261537.6	+	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	239					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G239D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGCAGAATGGCAACAGGAAT	0.408000													7	37					0	0	0.001984	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899923	130899923	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:130899923G>A	ENST00000392984.3	-	2	1376	c.633C>T	c.(631-633)gcC>gcT	p.A211A	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Silent_p.A109A			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	109								p.A109A(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGGAGCAGAGGCCCTGGAAA	0.647000													15	41					0	0	0.012319	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334739	142334739	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142334739C>T	ENST00000390394.3	+	0	239																											CGTCAGTTCCCGAAACAGAGT	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	28					0	0	0.010818	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:24359024G>T	ENST00000175238.6	+	20	2226	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G487*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G715*|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000													9	16					0.000442599	0.000472563	0.006214	1	0
HGD	3081	broad.mit.edu	37	3	120352002	120352002	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:120352002C>A	ENST00000283871.5	-	13	1639	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	394					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.G394C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCATGGTGCCATCGGCAATC	0.542000													6	29					5.9392e-07	6.81966e-07	0.021553	1	0
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:28963357C>T	ENST00000377179.3	-	7	1934	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E474E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCCCACACTCCTCACACCTGT	0.493000													22	29					0	0	0.012319	0	0
PSG2	5670	broad.mit.edu	37	19	43576091	43576091	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43576091G>T	ENST00000406487.1	-	4	823	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGAATTCTGGGGAGGTCTGG	0.498000													27	87					1.04121e-07	1.23121e-07	0.027356	1	0
SEMA5B	54437	broad.mit.edu	37	3	122630855	122630855	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:122630855G>C	ENST00000195173.4	-	20	3255	c.2952C>G	c.(2950-2952)agC>agG	p.S984R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1040R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S986R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	986	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S986R(1)|p.S1040R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACAGTGCCGGCTTCGGCTCT	0.637000													11	26					0	0	0.010729	0	0
GNAT1	2779	broad.mit.edu	37	3	50230588	50230588	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:50230588C>T	ENST00000232461.3	+	2	243	c.129C>T	c.(127-129)agC>agT	p.S43S	GNAT1_ENST00000433068.1_Silent_p.S43S	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	43					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCGGGAAGAGCACCATCGTCA	0.662000											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	54					0	0	0.003080	0	0
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128471546C>T	ENST00000322313.4	-	18	3077	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	973					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTCATGCCGCCTCTCTGACA	0.632000													27	66					0	0	0.009535	0	0
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:83332601C>A	ENST00000261722.3	-	19	2538	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	AP3B2_ENST00000535359.1_Silent_p.S796S|AP3B2_ENST00000535348.1_Silent_p.S745S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	777	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.S776S(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCGGACTCCGATGTCATCT	0.572000													15	22					1.3612e-06	1.5521e-06	0.024245	1	0
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:47505153G>A	ENST00000371901.3	+	8	1272	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.R340K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	341						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R341K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCAAGAGAGATGCCGGGAG	0.522000													14	24					0	0	0.028581	0	0
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	T	G	rs142691296		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:57958297T>G	ENST00000325752.3	-	4	772	c.495A>C	c.(493-495)tcA>tcC	p.S165S	TUBD1_ENST00000376094.4_Silent_p.S165S|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Silent_p.S165S|TUBD1_ENST00000592426.1_Silent_p.S165S|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Silent_p.S165S	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.S165S(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTTTCAATGAGTTTGAGT	0.343000													54	99					0	0	0.014410	0	0
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:98509822G>A	ENST00000359863.4	+	18	2394	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E729K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E728K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E729K(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAAAATGAACAAATGCT	0.483000													21	36					0	0	0.012319	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670723	55670723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55670723C>A	ENST00000527223.2	-	12	1535	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	DNAAF3_ENST00000455045.1_Missense_Mutation_p.A391S|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A445S|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A492S|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G106V	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	445								p.A492S(1)									GAAGGCCTGGCCCCGGTCTGT	0.617000													10	81					4.68919e-08	5.58521e-08	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179516838T>A	ENST00000589042.1	-	204	39504	c.39280A>T	c.(39280-39282)Agt>Tgt	p.S13094C	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S10660C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S11587C|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11447							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10660C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGAGGACTTTCCGGTTTG	0.348000													18	79					0	0	0.007413	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205667	36205667	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:36205667C>T	ENST00000392197.2	+	3	457	c.139C>T	c.(139-141)Cta>Tta	p.L47L	ZBTB32_ENST00000262630.3_Silent_p.L47L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	47	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.L47L(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGTGCTAGCAGGTGT	0.622000													16	87					0	0	0.028581	0	0
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:70681521T>G	ENST00000377844.4	-	1	1070	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	104					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q104P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCCCTTGCTGCAGCCTCGT	0.597000													32	23					0	0	0.009535	0	0
ZNF713	349075	broad.mit.edu	37	7	55990965	55990965	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:55990965G>C	ENST00000429591.2	+	2	197	c.159G>C	c.(157-159)agG>agC	p.R53S	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.R53S	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGAACTACAGGAATCTAGTTG	0.512000													23	50					0	0	0.024334	0	0
CTSK	1513	broad.mit.edu	37	1	150772099	150772099	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150772099C>T	ENST00000271651.3	-	6	815	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	235					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	p.L235L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCTCTTCAGGGCTTTCT	0.517000													5	130					0	0	0.014758	0	0
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	C	A	rs147705128	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:28993526C>A	ENST00000359747.4	+	15	3177	c.3148C>A	c.(3148-3150)Cga>Aga	p.R1050R	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.R1031R	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1031					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R1050R(2)|p.R1031R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGTAACACGATACAGTAA	0.438000													20	25					5.26018e-13	6.78382e-13	0.012319	1	0
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:3294475G>C	ENST00000219596.1	-	7	1763	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.S395*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.S364*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCATCTACCTGAGAAGTACTT	0.507000													18	77					0	0	0.006122	0	0
KAT6A	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:41834584C>T	ENST00000396930.3	-	8	1848	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KAT6A_ENST00000485568.1_Silent_p.E435E|KAT6A_ENST00000265713.2_Silent_p.E435E|KAT6A_ENST00000406337.1_Silent_p.E435E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	435	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.E435E(2)									TTCGATATTGCTCAGAGTAGT	0.448000													19	31					0	0	0.006122	0	0
SRCAP	10847	broad.mit.edu	37	16	30732215	30732215	+	Missense_Mutation	SNP	G	G	T	rs141288104		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:30732215G>T	ENST00000262518.4	+	20	3554	c.3169G>T	c.(3169-3171)Ggg>Tgg	p.G1057W	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057W|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			CTCACCTGCCGGGCCCCCGCT	0.637000													14	68					1.5842e-08	1.91126e-08	0.016723	1	0
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:77765894C>A	ENST00000407578.2	-	28	4256	c.3990G>T	c.(3988-3990)tgG>tgT	p.W1330C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W1292C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.W1292C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.W1292C(4)|p.W1330C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCCACATACCACCACCCAG	0.438000													13	17					2.27111e-07	2.64256e-07	0.013537	1	0
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:113719264C>T	ENST00000397030.1	+	7	757	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000375608.3_Silent_p.F237F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577000													26	45					0	0	0.027356	0	0
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:22807148G>T	ENST00000361524.3	-	4	882	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ZNF521_ENST00000584787.1_Missense_Mutation_p.T25N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T245N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.T245N(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACTTCTGAGTGTCCTTCAT	0.532000			T	PAX5	ALL								20	36					3.5997e-14	4.72145e-14	0.014323	1	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000													27	69					0	0	0.024334	0	0
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:26917884C>G	ENST00000539517.2	-	5	1122	c.805G>C	c.(805-807)Gga>Cga	p.G269R	NOVA1_ENST00000465357.2_Missense_Mutation_p.G245R|NOVA1_ENST00000267422.7_Missense_Mutation_p.G147R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G269R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAAGGAGATCCGGTTGGATTG	0.483000													13	60					0	0	0.020292	0	0
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:38266182A>T	ENST00000379705.3	-	4	2045	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G	TRPC4_ENST00000447043.1_Silent_p.G396G|TRPC4_ENST00000426868.2_Silent_p.G396G|TRPC4_ENST00000338947.5_Silent_p.G223G|TRPC4_ENST00000379673.2_Silent_p.G396G|TRPC4_ENST00000379679.1_Silent_p.G223G|TRPC4_ENST00000355779.2_Silent_p.G396G|TRPC4_ENST00000379681.3_Silent_p.G396G|TRPC4_ENST00000358477.2_Silent_p.G396G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	396					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.G396G(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGGTGGTGGACCTTGCCTGT	0.433000													18	23					0	0	0.007413	0	0
FCRL5	83416	broad.mit.edu	37	1	157491004	157491004	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:157491004C>T	ENST00000361835.3	-	11	2475	c.2318G>A	c.(2317-2319)tGt>tAt	p.C773Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.C773Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	773	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.C773Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGGCCTCACAGTGAAGCTC	0.582000													10	76					0	0	0.006214	0	0
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:75107651G>A	ENST00000290573.2	+	10	2125	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	HK2_ENST00000409174.1_Missense_Mutation_p.V481I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAGTGCCCCCGTCAAGATGCT	0.597000													14	35					0	0	0.020292	0	0
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:249144947C>A	ENST00000451251.1	-	11	1547	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	ZNF692_ENST00000366469.5_Missense_Mutation_p.R395L|ZNF692_ENST00000306601.4_Missense_Mutation_p.R396L|ZNF692_ENST00000427146.1_Missense_Mutation_p.R351L|ZNF692_ENST00000366471.3_Missense_Mutation_p.R351L	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	396				S -> G (in Ref. 1; BAA91239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R396L(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGAAAGACCGGGCGCAGAA	0.622000													15	56					2.31682e-05	2.56142e-05	0.024245	1	0
TTN	7273	broad.mit.edu	37	2	179640848	179640848	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179640848C>G	ENST00000589042.1	-	28	5967	c.5743G>C	c.(5743-5745)Gaa>Caa	p.E1915Q	TTN_ENST00000460472.2_Missense_Mutation_p.E1869Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1915Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1869Q|TTN_ENST00000591111.1_Missense_Mutation_p.E1915Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1869Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1915Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1633	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1915Q(3)|p.E1869Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGATTTTCCGCGGTGACC	0.463000													34	206					0	0	0.013726	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140811320A>G	ENST00000252085.3	+	1	1136	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.K332E(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGCCAAAGTCCTGAT	0.517000													20	70					0	0	0.012319	0	0
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:149999767C>A	ENST00000370377.3	-	2	185		c.e2-1		CD99L2_ENST00000320893.6_Splice_Site|CD99L2_ENST00000466436.1_Splice_Site|CD99L2_ENST00000355149.3_Splice_Site|CD99L2_ENST00000437787.2_Splice_Site|CD99L2_ENST00000346693.4_Splice_Site	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion	cell junction|integral to membrane		p.?(4)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGATCCtaaaaattaa	0.289000													13	27					1.61879e-10	2.01234e-10	0.013537	1	0
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:14131775A>T	ENST00000379153.3	+	3	349	c.178A>T	c.(178-180)Atg>Ttg	p.M60L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	60	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane		p.M60L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGAAGAGAGGATGGAGACACC	0.507000													21	20					0	0	0.010504	0	0
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:31089993C>T	ENST00000359202.3	-	1	177	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627000													17	45					0	0	0.004990	0	0
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:193364866A>G	ENST00000361510.2	+	19	2001	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	OPA1_ENST00000361715.2_Silent_p.L553L|OPA1_ENST00000361828.2_Silent_p.L552L|OPA1_ENST00000361908.3_Silent_p.L571L|OPA1_ENST00000392438.3_Silent_p.L534L|OPA1_ENST00000361150.2_Silent_p.L535L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	534			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.L589L(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAGCATGCTAAAGGCACACC	0.368000													20	13					0	0	0.012319	0	0
DUSP22	56940	broad.mit.edu	37	6	348851	348851	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:348851A>T	ENST00000604971.1	+	4	1322	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.K70M|DUSP22_ENST00000419235.2_Missense_Mutation_p.K173M|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.K70M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTAAATATAAGGAGCAAGGG	0.537000													5	53					0	0	0.014758	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:96706570C>G	ENST00000389672.5	+	3	885	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	EPHA6_ENST00000542517.1_Missense_Mutation_p.Q189E|EPHA6_ENST00000470610.2_Missense_Mutation_p.Q283E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000													79	81					0	0	0.014410	0	0
TTLL4	9654	broad.mit.edu	37	2	219619112	219619112	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219619112A>G	ENST00000392102.1	+	20	3940	c.3600A>G	c.(3598-3600)taA>taG	p.*1200*	TTLL4_ENST00000442769.1_Silent_p.*1136*|TTLL4_ENST00000258398.4_Silent_p.*1200*|TTLL4_ENST00000457313.1_3'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	0					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGCCCATAACTGGCCTCTC	0.552000													5	105					0	0	0.021553	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:32103262C>A	ENST00000375250.5	-	12	1910	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E587*|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E582*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E535*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E587*(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTATCTCCTCTTCAATTCCT	0.363000													27	60					7.01153e-11	8.79971e-11	0.007291	1	0
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:15366997C>G	ENST00000263377.2	-	9	1850	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	BRD4_ENST00000360016.5_Missense_Mutation_p.K543N|BRD4_ENST00000371835.4_Missense_Mutation_p.K543N|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	543	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.K543N(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tcttttccttcttgtctttct	0.433000			T	C15orf55	lethal midline carcinoma of young people								16	52					0	0	0.024245	0	0
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:173703396G>C	ENST00000209884.4	+	3	704	c.568G>C	c.(568-570)Gac>Cac	p.D190H	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	190	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.D190H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGGATAGCAGACAAGTTCAC	0.428000													13	21					0	0	0.013537	0	0
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:16359917C>T	ENST00000354981.2	-	19	2887	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q	KIF16B_ENST00000355755.3_Silent_p.Q910Q|KIF16B_ENST00000408042.1_Silent_p.Q910Q|KIF16B_ENST00000378003.2_Silent_p.Q136Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	910	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q910Q(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGGAGGTACTGTAGCTGGC	0.443000													45	69					0	0	0.009718	0	0
ZNF548	147694	broad.mit.edu	37	19	57910783	57910783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57910783C>G	ENST00000366197.5	+	3	1378	c.1128C>G	c.(1126-1128)taC>taG	p.Y376*	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Y388*|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y388*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTAGGTACAACTCCAGCC	0.403000													3	18					0	0	0.004672	0	0
CD300A	11314	broad.mit.edu	37	17	72469792	72469792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72469792C>T	ENST00000360141.3	+	2	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	53	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.P53L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCAGACCACCACAGATTTTC	0.547000													17	91					0	0	0.004990	0	0
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:103870845C>A	ENST00000361198.5	-	4	745	c.122G>T	c.(121-123)cGg>cTg	p.R41L	LDB1_ENST00000425280.1_Missense_Mutation_p.R77L|LDB1_ENST00000490751.1_5'UTR	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R77L(2)|p.R41L(2)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTCTGAAGCCGTTTGTTAAG	0.532000													10	38					1.76689e-08	2.11607e-08	0.006214	1	0
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:48758546A>C	ENST00000218224.4	+	2	401	c.147A>C	c.(145-147)ccA>ccC	p.P49P	PQBP1_ENST00000447146.2_Silent_p.P49P|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Silent_p.P49P|PQBP1_ENST00000376548.5_Silent_p.P49P|PQBP1_ENST00000376563.1_Silent_p.P49P|PQBP1_ENST00000376566.4_Silent_p.P49P|PQBP1_ENST00000247140.4_Silent_p.P49P	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	p.P49P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AGGGCCTACCACCAAGCTGGT	0.557000													4	7					0	0	0.009096	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99662084G>A	ENST00000543588.1	+	6	1407	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	ZSCAN21_ENST00000292450.4_Silent_p.G422G|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G388E|ZNF3_ENST00000413658.2_3'UTR			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	231					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G422G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGTGTGGGAAAGCCTTCA	0.512000													17	21					0	0	0.004990	0	0
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:30918542G>T	ENST00000375318.2	-	1	149	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31G(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GATTCCTGGTGCCTGCCGCAG	0.517000													11	31					3.86212e-05	4.24476e-05	0.008291	1	0
SNHG14	104472715	broad.mit.edu	37	15	25475993	25475993	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:25475993G>T	ENST00000453082.2	+	0	1523				SNORD115-33_ENST00000363723.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCG	0.537000													21	98					3.62473e-10	4.46357e-10	0.012319	1	0
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:24901483G>T	ENST00000251343.5	+	3	1155	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	KHNYN_ENST00000553935.1_Missense_Mutation_p.R339L|KHNYN_ENST00000556842.1_Missense_Mutation_p.R339L			O15037	KHNYN_HUMAN	KH and NYN domain containing	339								p.R339L(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCTCAGTCCCGAGGAGCCTCC	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	58					9.84934e-19	1.33604e-18	0.010771	1	0
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42478467C>T	ENST00000434000.1	-	9	1026	c.744G>A	c.(742-744)ggG>ggA	p.G248G	GPATCH8_ENST00000591680.1_Silent_p.G326G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326						intracellular	nucleic acid binding|zinc ion binding	p.G326G(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCAGAGGTCCCTTCCTCCG	0.448000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	137					0	0	0.015359	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858701	149858701	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:149858701G>C	ENST00000331380.2	+	1	177	c.177G>C	c.(175-177)ctG>ctC	p.L59L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	59					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGAGTACCTGACCGCCGAGA	0.687000													9	139					0	0	0.006214	0	0
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156776988G>A	ENST00000392306.2	-	8	1321	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	SH2D2A_ENST00000368199.3_Silent_p.P384P|SH2D2A_ENST00000368198.3_Silent_p.P366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	384					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P384P(2)|p.P394P(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCCCAAGGGGAAGCCATG	0.592000													54	77					0	0	0.014410	0	0
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143928027C>T	ENST00000220940.1	+	4	488	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	133	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P133L(3)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGCTTCCAGAAGGAACT	0.463000													14	43					0	0	0.016723	0	0
UFL1	23376	broad.mit.edu	37	6	96997631	96997631	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:96997631G>T	ENST00000369278.4	+	15	1840	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	592					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.D592Y(2)									CTTAGCTTCGGATTTAATGAT	0.398000													11	17					3.03607e-14	3.98618e-14	0.013537	1	0
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000545453.1_Missense_Mutation_p.S753L|DIS3_ENST00000377780.4_Missense_Mutation_p.S885L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328000										Multiple Myeloma(4;0.011)			4	36					0	0	0.021553	0	0
SUOX	6821	broad.mit.edu	37	12	56397693	56397693	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56397693G>A	ENST00000394109.3	+	3	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Missense_Mutation_p.D174N|SUOX_ENST00000266971.3_Missense_Mutation_p.D174N|SUOX_ENST00000356124.4_Missense_Mutation_p.D174N|SUOX_ENST00000548274.1_Missense_Mutation_p.D174N|SUOX_ENST00000550478.1_3'UTR			P51687	SUOX_HUMAN	sulfite oxidase	174	Hinge (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGAGACCTCTGACCCTTATGC	0.547000													8	55					0	0	0.003080	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367838	47367838	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:47367838G>C	ENST00000545968.1	-	12	1064	c.1010C>G	c.(1009-1011)gCc>gGc	p.A337G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A337G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A337G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	337					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.A337G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTACTGGAAGGCGATGCGCTC	0.612000													12	18					0	0	0.010729	0	0
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:137688241C>T	ENST00000371817.3	+	35	3235	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P941S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGACGGCCCAGCTGGCCC	0.577000													32	49					0	0	0.010818	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199455	71199455	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:71199455G>C	ENST00000554752.2	-	11	2630	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	MAP3K9_ENST00000555993.2_Missense_Mutation_p.H891Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.H610Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.H605Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.H854Q			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	877	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCAGGGGGTTGTGGGTACATG	0.592000													4	155					0	0	0.014758	0	0
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:45004705A>T	ENST00000429094.2	-	14	1997	c.1493T>A	c.(1492-1494)tTa>tAa	p.L498*	NELL2_ENST00000437801.2_Nonsense_Mutation_p.L548*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.L521*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.L497*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.L498*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	498	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.L548*(2)|p.L498*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTGAAGCATAAAGCATTTTC	0.388000													21	34					0	0	0.012319	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:175614714C>A	ENST00000348749.5	-	7	1039	c.962G>T	c.(961-963)cGc>cTc	p.R321L	CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557000													45	49					1.00953e-15	1.3457e-15	0.013114	1	0
MB21D2	151963	broad.mit.edu	37	3	192516994	192516994	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:192516994G>A	ENST00000392452.2	-	2	977	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	219								p.I217I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGATGGAGATGATGGTCCCAT	0.468000													7	88					0	0	0.001984	0	0
KIAA0247	9766	broad.mit.edu	37	14	70170156	70170156	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:70170156C>T	ENST00000342745.4	+	3	479	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	56	Sushi.					integral to membrane		p.H56Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTACATCTGCCACCCCCGGCC	0.572000													14	146					0	0	0.020292	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381966	41381966	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:41381966T>G	ENST00000377801.3	-	2	848	c.774A>C	c.(772-774)aaA>aaC	p.K258N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K258N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	258					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.K258N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCCACCCCTTTGACCACAG	0.423000													4	34					0	0	0.014758	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:21947917C>T	ENST00000406877.3	-	4	791	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R125H|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R137H|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	171					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R171H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTCTGTAAGCGTGCGCTAGA	0.428000													18	32					0	0	0.006122	0	0
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:135431523C>T	ENST00000394143.1	+	6	5949	c.5658C>T	c.(5656-5658)ccC>ccT	p.P1886P	GPR112_ENST00000370652.1_Silent_p.P1886P|GPR112_ENST00000287534.4_Silent_p.P1823P|GPR112_ENST00000412101.1_Silent_p.P1681P|GPR112_ENST00000394141.1_Silent_p.P1681P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1886					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1886P(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAACATACCCACAGCTGAAG	0.443000													20	46					0	0	0.008871	0	0
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:15495391C>T	ENST00000383788.5	-	16	1368	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.E416K|COLQ_ENST00000383787.2_Missense_Mutation_p.E406K|COLQ_ENST00000383786.5_Missense_Mutation_p.E381K|COLQ_ENST00000383781.4_Missense_Mutation_p.E405K|COLQ_ENST00000435459.2_Missense_Mutation_p.E405K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	415					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.E405K(2)|p.E415K(2)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCACAGTCCTCCACACCCTCA	0.587000													6	17					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358000													7	81					0	0	0.006214	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273625	99273625	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:99273625A>T	ENST00000408927.3	+	4	348		c.e4-1		RAP1GDS1_ENST00000408900.3_Splice_Site|RAP1GDS1_ENST00000380158.4_Splice_Site|RAP1GDS1_ENST00000512857.1_Splice_Site|RAP1GDS1_ENST00000264572.7_Splice_Site|RAP1GDS1_ENST00000339360.5_Splice_Site|RAP1GDS1_ENST00000453712.2_Splice_Site	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1								binding|GTPase activator activity	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTATTTTCAGAGTTTATGC	0.358000			T	NUP98	T-ALL								10	11					0	0	0.008291	0	0
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53042001C>A	ENST00000309680.3	-	5	1099	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572000													40	81					1.59361e-14	2.09863e-14	0.027894	1	0
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:150437062A>G	ENST00000401000.4	+	9	1458	c.1393A>G	c.(1393-1395)Agt>Ggt	p.S465G	RPRD2_ENST00000539519.1_Missense_Mutation_p.S465G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S491G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	491	Ser-rich.						protein binding	p.S491G(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCTCACCAGTGGCCTGAA	0.527000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0	0	0.003080	0	0
MNAT1	4331	broad.mit.edu	37	14	61201638	61201638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:61201638A>T	ENST00000261245.4	+	1	159	c.58A>T	c.(58-60)Aag>Tag	p.K20*	MNAT1_ENST00000555545.1_3'UTR|MNAT1_ENST00000539616.2_Nonsense_Mutation_p.K20*	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	20					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.K20*(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CCCCTCCTTGAAGCTGATGGT	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					10	68					0	0	0.006214	0	0
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42730041G>C	ENST00000301215.3	+	3	1711	c.1486G>C	c.(1486-1488)Ggt>Cgt	p.G496R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G496R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GACACACACGGGTGAGAGGCC	0.617000													19	82					0	0	0.006122	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716437	142716437	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:142716437C>G	ENST00000381779.4	-	2	2713	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E830Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E830Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	830						integral to membrane		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTTGCTCCTCAAGGACC	0.398000													7	33					0	0	0.006214	0	0
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:218713785T>A	ENST00000171887.4	-	17	1532	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TNS1_ENST00000419504.1_Silent_p.P360P|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Silent_p.P360P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	360						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P485P(2)|p.P360P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCCATCTAGTGGCCCCTGCG	0.597000													126	129					0	0	0.014410	0	0
ACBD4	79777	broad.mit.edu	37	17	43213514	43213514	+	Translation_Start_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:43213514G>T	ENST00000431281.1	+	4	472	c.3G>T	c.(1-3)atG>atT	p.M1I	ACBD4_ENST00000591859.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000592162.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000586346.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000321854.8_Start_Codon_SNP_p.M1I|ACBD4_ENST00000398322.3_Start_Codon_SNP_p.M1I|ACBD4_ENST00000376955.4_Start_Codon_SNP_p.M1I	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	1							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCAGCAGCATGGGCACCGAGA	0.627000													5	29					0.014758	0.0151397	0.014758	1	0
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:108307757C>T	ENST00000370056.4	-	9	1136	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	VAV3_ENST00000527011.1_Missense_Mutation_p.A288T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A223T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	288	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A288T(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTAGAGATGGCTGACTCCACT	0.358000													6	17					0	0	0.001984	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796998	42796998	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:42796998C>T	ENST00000314073.5	+	6	1103	c.927C>T	c.(925-927)gtC>gtT	p.V309V	GLTSCR1L_ENST00000394168.1_Silent_p.V309V					GLTSCR1-like																		CAAATAAAGTCCCAATTAATA	0.388000													16	121					0	0	0.028581	0	0
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:244716037G>A	ENST00000366534.4	+	9	1004	c.950G>A	c.(949-951)gGa>gAa	p.G317E	C1orf101_ENST00000366531.3_Missense_Mutation_p.G166E|C1orf101_ENST00000366533.4_Missense_Mutation_p.G317E|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	317						integral to membrane		p.G317E(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATAAGACTGGGAGGAATTGTA	0.343000													42	35					0	0	0.010771	0	0
EVPLL	645027	broad.mit.edu	37	17	18284947	18284947	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:18284947G>A	ENST00000399134.4	+	4	607	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	83								p.Q83Q(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGTGACCCAGGAGTGTGCGG	0.657000													14	27					0	0	0.028581	0	0
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:39161449G>T	ENST00000301819.6	+	8	1039	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E239*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E288*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	288							binding	p.E288*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAGGCACTAGAGACAAGGGA	0.448000													13	45					4.93089e-13	6.36542e-13	0.020292	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152059275T>C	ENST00000368806.1	-	3	947	c.883A>G	c.(883-885)Aga>Gga	p.R295G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding	p.R295G(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCTTCTCTTTGTAGGGGT	0.443000													158	160					0	0	0.014410	0	0
ARPP21	10777	broad.mit.edu	37	3	35778819	35778819	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:35778819C>A	ENST00000187397.4	+	16	2065	c.1609C>A	c.(1609-1611)Ccg>Acg	p.P537T	ARPP21_ENST00000444190.1_Missense_Mutation_p.P483T|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503T|ARPP21_ENST00000337271.5_Missense_Mutation_p.P483T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P503T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	537	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTCCAGCCACCGCAGCCACA	0.642000													10	37					3.86212e-05	4.24476e-05	0.008291	1	0
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:31901508G>A	ENST00000469372.1	+	2	280	c.59G>A	c.(58-60)aGc>aAc	p.S20N	C2_ENST00000418949.2_Silent_p.E188E|CFB_ENST00000556679.1_Silent_p.E126E|C2_ENST00000299367.5_Silent_p.E188E|CFB_ENST00000456570.1_Silent_p.E126E|C2_ENST00000442278.2_Silent_p.E56E|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Silent_p.E65E					complement component 2									p.E188E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTTCGGAGCGGGAGTGCC	0.647000													41	40					0	0	0.008740	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:52017224A>G	ENST00000267838.3	-	2	882	c.368T>C	c.(367-369)tTg>tCg	p.L123S	LYSMD2_ENST00000454181.2_Missense_Mutation_p.L32S|LYSMD2_ENST00000560491.1_Missense_Mutation_p.L32S|LYSMD2_ENST00000558126.1_Intron	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	123					cell wall macromolecule catabolic process			p.L123S(2)		lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		ATTAAACAACAAAGGCTTCTC	0.383000													10	26					0	0	0.006214	0	0
ERCC6	2074	broad.mit.edu	37	10	50679084	50679084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:50679084C>G	ENST00000355832.5	-	17	3085	c.3007G>C	c.(3007-3009)Gag>Cag	p.E1003Q	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.E373Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1003					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.E1003Q(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTAAATAGCTCATAGAGATCA	0.313000								Direct reversal of damage;Nucleotide excision repair (NER)					11	67					0	0	0.010729	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559471	140559471	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140559471G>T	ENST00000239444.2	+	1	2101	c.1856G>T	c.(1855-1857)tGg>tTg	p.W619L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		619	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGTGTGTGGGCGCACAAT	0.692000													16	76					9.17885e-22	1.26209e-21	0.015359	1	0
TEX9	374618	broad.mit.edu	37	15	56681599	56681599	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:56681599G>A	ENST00000558083.2	+	5	500		c.e5+1		TEX9_ENST00000561221.2_Splice_Site|TEX9_ENST00000352903.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site			Q8N6V9	TEX9_HUMAN	testis expressed 9									p.?(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAAATTCAAGGTATAGTATAG	0.274000													3	5					0	0	0.004672	0	0
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113286152A>T	ENST00000362072.3	-	5	1058	c.714T>A	c.(712-714)gcT>gcA	p.A238A	DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Silent_p.A238A|DRD2_ENST00000542968.1_Silent_p.A238A|DRD2_ENST00000538967.1_Silent_p.A238A|DRD2_ENST00000544518.1_Silent_p.A237A|DRD2_ENST00000355319.2_Silent_p.A238A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	238	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTTAGTGGAGCCCTCAGGT	0.572000													24	109					0	0	0.018920	0	0
VPS13B	157680	broad.mit.edu	37	8	100514053	100514053	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:100514053C>T	ENST00000395996.1	+	26	4120	c.4009C>T	c.(4009-4011)Ctc>Ttc	p.L1337F	VPS13B_ENST00000358544.2_Missense_Mutation_p.L1337F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1337F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1337					protein transport			p.L1337F(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTATAAAGCTCTTTGCTCC	0.473000													10	84					0	0	0.006214	0	0
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248059305G>T	ENST00000537741.1	+	3	674	c.417G>T	c.(415-417)agG>agT	p.R139S	OR2W3_ENST00000360358.3_Missense_Mutation_p.R139S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAACCCCAGGCTCTGCCGGG	0.627000													43	38					4.32679e-17	5.83894e-17	0.027894	1	0
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:21760782T>C	ENST00000382254.1	-	13	2604	c.1518A>G	c.(1516-1518)atA>atG	p.I506M	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.I506M|CDH12_ENST00000522262.1_Missense_Mutation_p.I466M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I506M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTATCTGAATTATCTGCAACA	0.403000										HNSCC(59;0.17)			14	32					0	0	0.016723	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140789165C>G	ENST00000520790.1	+	1	1396	c.1396C>G	c.(1396-1398)Ccg>Gcg	p.P466A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.P466A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGAACAACCCGCCAGGAGC	0.567000													10	41					0	0	0.006214	0	0
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:70342515C>T	ENST00000558939.1	-	20	3617	c.2240G>A	c.(2239-2241)tGt>tAt	p.C747Y	TLE3_ENST00000559048.1_Missense_Mutation_p.C747Y|TLE3_ENST00000558379.1_Missense_Mutation_p.C742Y|TLE3_ENST00000317509.8_Missense_Mutation_p.C735Y|TLE3_ENST00000559929.1_Missense_Mutation_p.C757Y|TLE3_ENST00000557907.1_Missense_Mutation_p.C739Y|TLE3_ENST00000451782.2_Missense_Mutation_p.C744Y|TLE3_ENST00000560939.1_Missense_Mutation_p.C749Y|TLE3_ENST00000557997.1_Missense_Mutation_p.C739Y|TLE3_ENST00000558201.1_Missense_Mutation_p.C753Y|TLE3_ENST00000560589.1_Missense_Mutation_p.C691Y|TLE3_ENST00000559191.1_Missense_Mutation_p.C328Y|TLE3_ENST00000440567.3_Missense_Mutation_p.C737Y|TLE3_ENST00000442299.2_Missense_Mutation_p.C739Y|TLE3_ENST00000539550.1_Missense_Mutation_p.C674Y			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	747					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.C747Y(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAATGTCACAACTCAAGAC	0.473000													30	73					0	0	0.010818	0	0
ATG2B	55102	broad.mit.edu	37	14	96809570	96809570	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:96809570C>A	ENST00000359933.4	-	5	1523	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	210								p.V210V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGTTGATGCACATTAATTC	0.433000													6	31					0.00307968	0.00321475	0.003080	1	0
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:9416304G>C	ENST00000328089.6	+	2	695	c.354G>C	c.(352-354)gcG>gcC	p.A118A	SPSB1_ENST00000377399.2_Silent_p.A118A|SPSB1_ENST00000357898.3_Silent_p.A118A	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	118	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.A118A(2)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGGCGACGGCAGACG	0.662000													70	50					0	0	0.014410	0	0
BCL11B	64919	broad.mit.edu	37	14	99642483	99642483	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:99642483G>A	ENST00000345514.2	-	3	743	c.477C>T	c.(475-477)ttC>ttT	p.F159F	BCL11B_ENST00000443726.2_Silent_p.F36F|BCL11B_ENST00000357195.3_Silent_p.F230F	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	230						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACGCGCTGTTGAAGGGCTGCT	0.622000			T	TLX3	T-ALL								8	26					0	0	0.003080	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:57218183A>C	ENST00000396721.2	-	5	807	c.677T>G	c.(676-678)tTg>tGg	p.L226W	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L270W|SDR16C5_ENST00000303749.3_Missense_Mutation_p.L270W			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	270					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L270W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAAGTATAACAACTTTGGCAT	0.358000													10	16					0	0	0.008291	0	0
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219000386C>A	ENST00000318507.2	+	3	1289	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592000													69	61					2.32099e-22	3.20482e-22	0.014410	1	0
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:4116637G>C	ENST00000404826.2	+	21	3157	c.3018G>C	c.(3016-3018)caG>caC	p.Q1006H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1006H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1006	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGCTATCAGATCTCTTGGG	0.542000													9	30					0	0	0.004482	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:35927260C>T	ENST00000490799.1	-	16	2193	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	SLC26A8_ENST00000355574.2_Missense_Mutation_p.D614N|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D509N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	614	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.D614N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGATCATCACAGTTGCAG	0.363000													12	59					0	0	0.013537	0	0
DDI1	414301	broad.mit.edu	37	11	103908684	103908684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:103908684G>T	ENST00000302259.3	+	1	1377	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	378					proteolysis		aspartic-type endopeptidase activity	p.E378D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCAAGATGAGTCTTCGGACA	0.458000													3	29					0.004672	0.00483069	0.004672	1	0
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:103487276G>C	ENST00000358392.2	-	9	1648	c.1331C>G	c.(1330-1332)gCa>gGa	p.A444G	COL11A1_ENST00000370096.3_Missense_Mutation_p.A432G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A316G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A393G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A432G(2)|p.A444G(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCAACCACTGCTGGTTCTCC	0.358000													10	26					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:160510217G>T	ENST00000356956.1	+	43	6547	c.6399G>T	c.(6397-6399)caG>caT	p.Q2133H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2133					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.Q2133H(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGAGGTGCAGATGGTGAATG	0.502000													19	26					3.32936e-07	3.86017e-07	0.006122	1	0
PALD1	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:72292391C>A	ENST00000263563.6	+	6	916	c.648C>A	c.(646-648)gcC>gcA	p.A216A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A216A(1)									ACGACTTTGCCCAGCTGAGCG	0.587000													21	102					4.35082e-09	5.30281e-09	0.010504	1	0
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	C	G	rs12298510		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:21981911C>G	ENST00000261200.4	-	29	3649	c.3650G>C	c.(3649-3651)aGa>aCa	p.R1217T	ABCC9_ENST00000261201.4_Missense_Mutation_p.R1217T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1181T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1217	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1217T(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCAGCCATCTGTTGGCAGC	0.418000													10	33					0	0	0.010729	0	0
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Nonstop_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:34889224A>T	ENST00000381539.3	+	10	1177	c.1173A>T	c.(1171-1173)tgA>tgT	p.*391C	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292V|NPSR1_ENST00000360581.1_Missense_Mutation_p.E358V			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.E358V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGAGAACTGAGAGGCATGAG	0.488000													23	57					0	0	0.021523	0	0
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:157551323G>T	ENST00000271532.1	-	7	1382	c.1247C>A	c.(1246-1248)tCa>tAa	p.S416*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	416						integral to membrane|plasma membrane	receptor activity	p.S416*(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCACAAACCTGACTTCCTCCG	0.592000													31	27					1.30897e-18	1.77375e-18	0.009535	1	0
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:118579310G>A	ENST00000263239.2	+	5	863	c.735G>A	c.(733-735)agG>agA	p.R245R	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R245R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAGTTAAGGTTCATGCCCA	0.423000													9	32					0	0	0.004482	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000													11	64					0	0	0.008291	0	0
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:56380893C>A	ENST00000526538.1	-	1	85	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G29V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGAATACCCCAAACAGGAT	0.473000													9	30					2.17888e-05	2.41503e-05	0.006214	1	0
CD276	80381	broad.mit.edu	37	15	73991925	73991925	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:73991925A>G	ENST00000318443.5	+	2	248		c.e2-1		CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000561213.1_Splice_Site|CD276_ENST00000537340.2_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCTTTCTCCCAGGCAGGGGCA	0.637000													3	12					0	0	0.004672	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580996	99580996	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99580996C>A	ENST00000425474.1	+	0	317					NR_036679.1																						AGACCCTGAACAACATCATGG	0.562000													12	14					1.61879e-10	2.01234e-10	0.013537	1	0
TTLL4	9654	broad.mit.edu	37	2	219617846	219617846	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219617846C>T	ENST00000392102.1	+	18	3536	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	TTLL4_ENST00000442769.1_Silent_p.L1002L|TTLL4_ENST00000258398.4_Silent_p.L1066L|TTLL4_ENST00000457313.1_Silent_p.L901L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1066					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGAGTAGATCTGCTCCGGAG	0.498000													8	386					0	0	0.004482	0	0
RNF213	57674	broad.mit.edu	37	17	78357570	78357570	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:78357570C>T	ENST00000582970.1	+	59	14307	c.14164C>T	c.(14164-14166)Cca>Tca	p.P4722S	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2795S|RNF213_ENST00000508628.2_Missense_Mutation_p.P4771S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.P4771S(1)|p.P2795S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATATGGTGACCCAGTGACCTT	0.468000													3	48					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179396241C>T	ENST00000589042.1	-	358	105325	c.105101G>A	c.(105100-105102)gGg>gAg	p.G35034E	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25969E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32466E|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26094E|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33393E|TTN_ENST00000342175.6_Missense_Mutation_p.G26161E|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33393							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26094E(2)|p.G32464E(2)|p.G32466E(2)|p.G25969E(2)|p.G26161E(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAATCCCCTCCTGTCAC	0.493000													35	40					0	0	0.013726	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:55407437C>A	ENST00000341048.4	-	10	1289	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ANKRD55_ENST00000434982.2_Missense_Mutation_p.D92Y|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D337Y	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	379								p.D380Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTGATGATGTCATTGACTTCT	0.463000													37	187					9.62906e-15	1.27318e-14	0.025465	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:160259585C>T	ENST00000264431.4	+	12	2194	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.S580L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTATTGCAGTCACATCATCGC	0.383000													11	38					0	0	0.010729	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567171	173567171	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:173567171C>A	ENST00000367714.3	-	4	651	c.228_splice	c.e4-1	p.V77_splice	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	77					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V77L(1)									ATTTGGTGCACCTAAAGTAAC	0.299000													4	16					0.00024832	0.000266873	0.009096	1	0
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:3726108G>A	ENST00000252505.3	+	4	297	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64							allantoicase activity	p.W45*(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGAAATGGATGGATGGCT	0.463000										HNSCC(21;0.051)			14	9					0	0	0.020292	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:11082809G>T	ENST00000304623.8	-	16	2976	c.2788_splice	c.e16+1	p.I929_splice	CTNND2_ENST00000359640.2_Splice_Site_p.I871_splice|CTNND2_ENST00000511377.1_Splice_Site_p.I838_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.I592_splice|CTNND2_ENST00000458100.2_Splice_Site_p.I496_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000													14	52					1.5842e-08	1.91126e-08	0.016723	1	0
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:11297963C>A	ENST00000361445.4	-	13	2221	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	715					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.V715V(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGAGTCGGCCCACAGTGCAGA	0.577000													23	31					1.28384e-07	1.50587e-07	0.012319	1	0
HNRNPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:38796436C>A	ENST00000449105.2	-	10	1594	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	HNRNPLL_ENST00000409328.1_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000409636.1_Nonsense_Mutation_p.E414*|HNRNPLL_ENST00000378915.3_Nonsense_Mutation_p.E385*	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like									p.E419*(2)									TCCTCCAGCTCAAATATTTGA	0.368000													9	16					2.74318e-10	3.39077e-10	0.006214	1	0
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:73190390T>C	ENST00000541685.1	-	5	488	c.476A>G	c.(475-477)gAg>gGg	p.E159G	DPF3_ENST00000546183.1_Missense_Mutation_p.E169G|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.E159G	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.E159G(4)|p.E158G(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAATCCTCTTCTTCATT	0.418000													109	108					0	0	0.014410	0	0
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:42530068G>C	ENST00000282030.5	+	4	1059	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	255						nucleus	DNA binding	p.E255Q(2)|p.E201Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCGCTCTTGAGCCCGTGGC	0.537000									Schinzel-Giedion syndrome				27	84					0	0	0.021523	0	0
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53010126G>A	ENST00000305748.3	-	2	520	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.T162T(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCCACTTGGTCTCCAGCA	0.552000													17	72					0	0	0.028581	0	0
ADAM29	11086	broad.mit.edu	37	4	175898412	175898412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:175898412T>G	ENST00000359240.3	+	5	2406	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	ADAM29_ENST00000445694.1_Missense_Mutation_p.I579R|ADAM29_ENST00000514159.1_Missense_Mutation_p.I579R|ADAM29_ENST00000404450.4_Missense_Mutation_p.I579R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	579	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I579R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCAATGACATAATGTGCTGG	0.423000													10	79					0	0	0.013537	0	0
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:60688050G>C	ENST00000335712.6	-	4	2224	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	BCL11A_ENST00000358510.4_Missense_Mutation_p.S632C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.S666C|BCL11A_ENST00000538214.1_Missense_Mutation_p.S632C|BCL11A_ENST00000537768.1_Missense_Mutation_p.S335C|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	666					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S666C(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGCCTGGAGGCCGCGTA	0.612000			T	IGH@	B-CLL								19	33					0	0	0.006122	0	0
MUC6	4588	broad.mit.edu	37	11	1025314	1025314	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:1025314G>T	ENST00000421673.2	-	23	2903	c.2853C>A	c.(2851-2853)ccC>ccA	p.P951P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	951	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.P951P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGTGGGGCTCCTCCC	0.657000													31	71					2.2171e-23	3.06785e-23	0.009535	1	0
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463000													20	111					0	0	0.007413	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	G	T	rs77402299		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140864842G>T	ENST00000306593.1	+	1	102	c.102G>T	c.(100-102)ccG>ccT	p.P34P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.P34P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACCCGGTCCCAGAGG	0.557000													12	51					2.27111e-07	2.64256e-07	0.013537	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:155555776C>A	ENST00000295101.2	+	1	966	c.489C>A	c.(487-489)ctC>ctA	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572000													9	82					1.12685e-05	1.2575e-05	0.004482	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:39990940G>A	ENST00000332312.3	-	4	1461	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						proteinaceous extracellular matrix		p.L423L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGGCAGCAGAGAGCCTCGTAA	0.642000													20	107					0	0	0.008871	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560240	44560240	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:44560240A>T	ENST00000332567.4	-	1	1748	c.1396T>A	c.(1396-1398)Tca>Aca	p.S466T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	466					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.S466T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGCCTCTGAGAGGTCCCAG	0.602000													20	112					0	0	0.008871	0	0
TMTC3	160418	broad.mit.edu	37	12	88588674	88588674	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:88588674C>T	ENST00000266712.6	+	14	2213	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	666						integral to membrane	binding	p.P665S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAATGAAGAGCCACTAGATGC	0.323000													3	20					0	0	0.004672	0	0
EPHB1	2047	broad.mit.edu	37	3	134851748	134851748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:134851748G>T	ENST00000398015.3	+	5	1524	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGCAGCTGGGCCTGACGGAG	0.597000													3	35					0.004672	0.00483069	0.004672	1	0
NXF4	55999	broad.mit.edu	37	X	101818873	101818873	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:101818873G>A	ENST00000360035.2	+	0	1157					NR_002216.1													p.S138S(1)		endometrium(2)|lung(8)	10						AGCTGAAGTCGGCTTGGGAGT	0.552000													4	14					0	0	0.009096	0	0
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:21346252C>G	ENST00000377191.3	+	26	2461	c.2366C>G	c.(2365-2367)tCc>tGc	p.S789C	XRN2_ENST00000539513.1_Missense_Mutation_p.S735C|XRN2_ENST00000430571.2_Missense_Mutation_p.S713C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.S789C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGAAAAATCCAGCAATGGA	0.473000													18	89					0	0	0.004990	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057927	152057927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152057927G>T	ENST00000368806.1	-	3	2295	c.2231C>A	c.(2230-2232)tCa>tAa	p.S744*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	744							calcium ion binding	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCTCCTCTGATGTTACAGG	0.468000													20	157					7.87624e-14	1.031e-13	0.016522	1	0
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677000													6	44					0	0	0.021553	0	0
FPR2	2358	broad.mit.edu	37	19	52272902	52272902	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52272902C>A	ENST00000598776.1	+	2	1763	c.991C>A	c.(991-993)Cca>Aca	p.P331T	FPR2_ENST00000598953.1_Missense_Mutation_p.P331T|FPR2_ENST00000340023.6_Missense_Mutation_p.P331T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACTCAGCCCCAACTAATGA	0.537000													6	38					0.00198382	0.00207745	0.001984	1	0
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:8425882G>A	ENST00000337907.3	-	14	2071	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	RERE_ENST00000400907.2_Silent_p.S479S|RERE_ENST00000400908.2_Silent_p.S479S|RERE_ENST00000377464.1_Silent_p.S211S|RERE_ENST00000476556.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	479					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S479S(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGAATTCACTGGACGGGGGTC	0.637000													28	38					0	0	0.008361	0	0
DST	667	broad.mit.edu	37	6	56483314	56483314	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:56483314G>T	ENST00000370765.6	-	23	5625	c.5518C>A	c.(5518-5520)Cgt>Agt	p.R1840S	DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413000													43	53					2.13384e-23	2.95889e-23	0.014410	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535364	90535364	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:90535364C>G	ENST00000602681.1	+	0	1268																											GCCTCCACCCCACCACCAGGC	0.607000													67	104					0	0	0.014410	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:238090596G>C	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617000													10	24					0	0	0.006214	0	0
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:40134118G>C	ENST00000181839.4	+	14	4683	c.4078G>C	c.(4078-4080)Gct>Cct	p.A1360P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1300P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1360					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.A1360P(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAGTTCTGCTCCACCACT	0.438000													30	77					0	0	0.006320	0	0
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142460350T>C	ENST00000486171.1	+	5	582	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Y175H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	175	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Y175H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGAAGCCTCCTACCCTGGAAA	0.532000													65	148					0	0	0.014410	0	0
NUP210L	91181	broad.mit.edu	37	1	154067433	154067433	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:154067433T>G	ENST00000368559.3	-	15	2236	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q722P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	722						integral to membrane		p.Q722P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCCAGGCATTGGATCCGGTA	0.383000													5	26					0	0	0.014758	0	0
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:129903116T>A	ENST00000368654.3	-	13	7363	c.6988A>T	c.(6988-6990)Aag>Tag	p.K2330*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1970*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K2330*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGTGGGCTTGTCAGTGCCT	0.522000													113	283					0	0	0.014410	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52147285C>A	ENST00000360844.6	-	5	800	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	253	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.L246L(2)|p.L253L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGGATCCGCAGGGCTGGGA	0.592000													7	11					0.00198382	0.00207745	0.001984	1	0
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site	SNP	C	C	A	rs28940587		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:64518939C>A	ENST00000164139.3	-	16	2226		c.e16-1		PYGM_ENST00000377432.3_Splice_Site|PYGM_ENST00000462303.1_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.?(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGGTGCAGCCTGAGGGGACA	0.602000													41	92					1.52319e-26	2.13018e-26	0.008740	1	0
RYR1	6261	broad.mit.edu	37	19	38934893	38934893	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:38934893C>G	ENST00000355481.4	+	6	660	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	RYR1_ENST00000360985.3_Missense_Mutation_p.R177G|RYR1_ENST00000359596.3_Missense_Mutation_p.R177G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	177	MIR 2.		R -> C (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R177G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTCCGAGCGCTACCTGGT	0.602000													4	34					0	0	0.009096	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:39086866C>A	ENST00000400482.3	-	3	1183	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.K198N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	198					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.K198N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCTGCCCTCTTCTTGGGTT	0.483000													18	47					2.35188e-11	2.97738e-11	0.006122	1	0
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:125315507G>C	ENST00000373688.2	+	1	117	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AAACCAGGCAGAGTGAACCAA	0.448000													11	45					0	0	0.010729	0	0
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:14563219G>C	ENST00000181796.2	-	5	1124	c.891C>G	c.(889-891)ggC>ggG	p.G297G	FAM107B_ENST00000468747.1_Silent_p.G122G|FAM107B_ENST00000478076.1_Silent_p.G122G|FAM107B_ENST00000496330.1_Silent_p.G122G|FAM107B_ENST00000378458.2_Silent_p.G122G|FAM107B_ENST00000378465.3_Silent_p.G122G|FAM107B_ENST00000378462.1_Silent_p.G122G|FAM107B_ENST00000378467.4_Silent_p.G122G|FAM107B_ENST00000378470.1_Silent_p.G122G|FAM107B_ENST00000479731.1_Silent_p.G122G	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	122								p.G297G(2)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGACTTCTTGGCCTGTTCTCC	0.517000													44	75					0	0	0.011902	0	0
EFCAB13	124989	broad.mit.edu	37	17	45447856	45447856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:45447856G>C	ENST00000331493.2	+	11	1270	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E191Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.E287Q(1)									TGAGCTACAGGAACAGTATGA	0.274000													3	19					0	0	0.004672	0	0
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:51392312G>A	ENST00000266037.9	+	41	4130		c.e41-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.?(4)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTTGTGGCAGAACAAAGAAT	0.527000													24	84					0	0	0.021523	0	0
LTN1	26046	broad.mit.edu	37	21	30304987	30304987	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:30304987C>A	ENST00000361371.4	-	28	5026		c.e28-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGCTTTAACCTGCAATACAA	0.343000													10	59					2.17888e-05	2.41503e-05	0.006214	1	0
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156554719G>T	ENST00000368236.3	+	7	1338	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	TTC24_ENST00000368237.3_Missense_Mutation_p.E434D|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434							binding	p.E434D(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGCGGAGGGGACCCCAG	0.612000													9	4					1.76689e-08	2.11607e-08	0.006214	1	0
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:22369243C>A	ENST00000332663.2	+	1	766	c.668C>A	c.(667-669)gCc>gAc	p.A223D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTTCTGGCCTTGTTCAAG	0.478000													20	89					8.00594e-06	8.9801e-06	0.007413	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110030427	110030427	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:110030427G>A	ENST00000369870.3	+	5	715		c.e5+1			NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2									p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGATGGCTCGTGAGTAGTTG	0.592000													4	49					0	0	0.009096	0	0
NFKBID	84807	broad.mit.edu	37	19	36387833	36387833	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:36387833T>C	ENST00000396901.1	-	5	707	c.134A>G	c.(133-135)cAg>cGg	p.Q45R	NFKBID_ENST00000352614.2_Missense_Mutation_p.Q197R|NFKBID_ENST00000606253.1_Missense_Mutation_p.Q45R	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	45					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTCCTCATCCTGGGCCAGCAG	0.637000													4	109					0	0	0.009096	0	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)			16	83					0	0	0.024245	0	0
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:136649681G>A	ENST00000287538.5	+	1	1381	c.831G>A	c.(829-831)gaG>gaA	p.E277E	ZIC3_ENST00000370606.3_Silent_p.E277E	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	277					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E277E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCATGCATGAGCTGGTGACAC	0.617000													18	64					0	0	0.006122	0	0
CHMP4B	128866	broad.mit.edu	37	20	32436305	32436305	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:32436305T>C	ENST00000217402.2	+	2	388	c.223T>C	c.(223-225)Tat>Cat	p.Y75H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	75					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.Y75H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAAGAAGAGGTATGAGAAGCA	0.567000													8	45					0	0	0.004482	0	0
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:187088747T>C	ENST00000259030.2	+	2	437	c.327T>C	c.(325-327)gaT>gaC	p.D109D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	109					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.D109D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCTCGGATAGCACCATGA	0.507000													7	28					0	0	0.001984	0	0
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:75902715C>A	ENST00000322563.3	-	4	907	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	261					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.K261N(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TATCCAGGTCCTTGGGCACCA	0.597000													32	127					4.31634e-10	5.31023e-10	0.012213	1	0
FBXL7	23194	broad.mit.edu	37	5	15936692	15936692	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:15936692C>T	ENST00000504595.1	+	4	1354	c.873C>T	c.(871-873)caC>caT	p.H291H	FBXL7_ENST00000510662.1_Silent_p.H244H|FBXL7_ENST00000329673.7_Silent_p.H279H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.H291H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGCCTGCACACCATCGCGG	0.622000													5	35					0	0	0.014758	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443757	74443757	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:74443757C>A	ENST00000339953.5	-	11	1352	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	411	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCCCATGGCAGCACTCAGC	0.632000													4	55					8.12818e-05	8.8297e-05	0.001984	1	0
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:3685153G>T	ENST00000403096.3	+	3	646	c.155G>T	c.(154-156)aGt>aTt	p.S52I	COLEC11_ENST00000418971.2_Missense_Mutation_p.S92I|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000402794.1_Missense_Mutation_p.S28I|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000349077.4_Missense_Mutation_p.S78I|COLEC11_ENST00000236693.7_Missense_Mutation_p.S75I|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	78						collagen	mannose binding	p.S92I(2)|p.S75I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGAAAGGCAGTGTGGGTCGT	0.512000													20	24					1.96292e-10	2.4309e-10	0.010504	1	0
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:9784051T>A	ENST00000304374.2	+	1	794	c.398T>A	c.(397-399)gTc>gAc	p.V133D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V133D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACCTGTGCGTCATCAGCGTG	0.627000													10	25					0	0	0.006214	0	0
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:59112366T>A	ENST00000395153.3	+	4	1061	c.914T>A	c.(913-915)aTt>aAt	p.I305N	DACT1_ENST00000335867.4_Missense_Mutation_p.I342N|DACT1_ENST00000541264.2_Missense_Mutation_p.I61N|DACT1_ENST00000556859.1_Missense_Mutation_p.I61N|DACT1_ENST00000395151.3_Missense_Mutation_p.I61N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	342					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.I342N(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GATGGCTACATTCTGAGCCTG	0.517000													27	23					0	0	0.024334	0	0
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149749093G>A	ENST00000451292.1	+	6	675	c.565_splice	c.e6-1	p.G189_splice	TCOF1_ENST00000504761.2_Splice_Site_p.G189_splice|TCOF1_ENST00000394269.3_Splice_Site_p.G189_splice|TCOF1_ENST00000445265.2_Splice_Site_p.G189_splice|TCOF1_ENST00000377797.3_Splice_Site_p.G189_splice|TCOF1_ENST00000513346.1_Splice_Site_p.G189_splice|TCOF1_ENST00000439160.2_Splice_Site_p.G189_splice|TCOF1_ENST00000323668.7_Splice_Site_p.G189_splice			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development	nucleolus	protein binding|transporter activity	p.G189G(4)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCTCAGGGATGGTGTCAG	0.627000													16	42					0	0	0.007413	0	0
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:116691596G>A	ENST00000357780.3	-	3	1292	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.P393L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCTCCAAAGGGGCCAGCAT	0.617000													10	43					0	0	0.006214	0	0
IBA57	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:228363178A>G	ENST00000366711.3	+	3	1037	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	IBA57_ENST00000546123.1_Silent_p.A152A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTAGCCGCATCTGTGCCAG	0.647000													62	86					0	0	0.014410	0	0
ZNF165	7718	broad.mit.edu	37	6	28056879	28056879	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:28056879G>A	ENST00000377325.1	+	4	1645	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	363					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q363Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGGCATCAGAGAATCCACA	0.433000													5	21					0	0	0.021553	0	0
ADNP2	22850	broad.mit.edu	37	18	77894747	77894747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:77894747C>G	ENST00000262198.4	+	4	1906	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	484					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S484*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGGTCCAGTCAGGAGTTCTC	0.607000													13	81					0	0	0.013537	0	0
ACTR8	93973	broad.mit.edu	37	3	53908248	53908248	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:53908248T>C	ENST00000335754.3	-	8	1155	c.1055A>G	c.(1054-1056)cAt>cGt	p.H352R	ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Missense_Mutation_p.H241R	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.H352R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGATCTAAATGACAAAAAGT	0.343000													5	24					0	0	0.014758	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92715222C>A	ENST00000257068.2	+	2	839	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCCATCAACCCCCAAGAAATG	0.512000													56	139					2.43277e-16	3.2628e-16	0.014410	1	0
PEX6	5190	broad.mit.edu	37	6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:42934376C>T	ENST00000304611.8	-	10	2050	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597000													6	175					0	0	0.001984	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:121638051G>T	ENST00000393386.2	+	10	1642	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	411					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D411Y(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATGCCTACTGATAATCCTGG	0.348000													5	9					0.000602214	0.000640893	0.014758	1	0
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155215184T>A	ENST00000460012.1	-	15	2086	c.1729A>T	c.(1729-1731)Atg>Ttg	p.M577L	PLCH1_ENST00000494598.1_Missense_Mutation_p.M595L|PLCH1_ENST00000447496.2_Missense_Mutation_p.M595L|PLCH1_ENST00000414191.1_Missense_Mutation_p.M577L|PLCH1_ENST00000340059.7_Missense_Mutation_p.M595L|PLCH1_ENST00000334686.6_Missense_Mutation_p.M577L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M595L(2)|p.M577L(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGCTTCATGGTTTTCCTT	0.473000													14	53					0	0	0.020292	0	0
EPHA7	2045	broad.mit.edu	37	6	94068026	94068026	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:94068026A>C	ENST00000369303.4	-	4	1120	c.936T>G	c.(934-936)tgT>tgG	p.C312W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	312	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C312W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCCATCTTCACATTCACATC	0.458000													4	20					0	0	0.009096	0	0
NYAP2	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:226273676G>C	ENST00000272907.6	+	2	493	c.80G>C	c.(79-81)gGg>gCg	p.G27A	NYAP2_ENST00000409269.2_Missense_Mutation_p.G27A	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	27								p.G27A(2)									GAGGATATGGGGATGAAGGCC	0.428000													13	18					0	0	0.020292	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62655685G>C	ENST00000377892.1	+	12	1842	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	SLC3A2_ENST00000536981.1_Missense_Mutation_p.V54L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V509L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V478L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.V408L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V447L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V510L|SLC3A2_ENST00000538682.1_3'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	509					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.V540L(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAACATGACTGTGAAGGTAAG	0.537000													34	56					0	0	0.010818	0	0
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152285143C>A	ENST00000368799.1	-	3	2254	c.2219G>T	c.(2218-2220)cGa>cTa	p.R740L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577000									Ichthyosis				85	638					5.02048e-33	7.11235e-33	0.014410	1	0
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49611952C>T	ENST00000327171.3	+	9	1318	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000560031.1_Silent_p.D373D|GALK2_ENST00000544523.1_Silent_p.D349D|GALK2_ENST00000559454.1_Silent_p.D349D|GALK2_ENST00000396509.2_Silent_p.D349D	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	373					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	p.D362D(2)|p.D373D(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCTGCCGGGACATGTATGAGT	0.532000													9	20					0	0	0.006214	0	0
NELFCD	51497	broad.mit.edu	37	20	57569177	57569177	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:57569177A>G	ENST00000602795.1	+	14	1696	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	NELFCD_ENST00000344018.3_Missense_Mutation_p.I541V|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D									p.I541V(1)									GCTGGACGTCATTGCTCCTCC	0.557000													15	72					0	0	0.024245	0	0
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:78340326G>A	ENST00000255189.3	-	6	823	c.795C>T	c.(793-795)ctC>ctT	p.L265L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.L64L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	265					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L265L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAACCGGAATGAGAGGATGTT	0.373000													12	31					0	0	0.010729	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870200	36870200	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36870200G>A	ENST00000279024.4	-	3	604	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCCTCCTGGGGCTCCACTT	0.557000													19	102					0	0	0.007413	0	0
TBCE	6905	broad.mit.edu	37	1	235612020	235612020	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:235612020A>C	ENST00000543662.1	+	18	1786	c.1680A>C	c.(1678-1680)ctA>ctC	p.L560L	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L509L|TBCE_ENST00000366601.3_Silent_p.L509L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	509					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.L509L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATGACCTAAAGTCATTAC	0.393000													8	49					0	0	0.004482	0	0
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31538717G>A	ENST00000286808.3	-	1	254	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	73					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L73L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGCAGGCGGGAGAGCCAACA	0.552000													12	55					0	0	0.013537	0	0
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:110048969C>G	ENST00000309415.6	+	6	1416	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3.						zinc ion binding	p.L472L(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACCTGGCGCTCTACGCCTACA	0.632000													10	14					0	0	0.010729	0	0
KCNB2	9312	broad.mit.edu	37	8	73480521	73480521	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:73480521G>C	ENST00000523207.1	+	2	1140	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	184					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E184D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGCTGGAGAAACCTAACT	0.458000													8	59					0	0	0.003080	0	0
PPM1F	9647	broad.mit.edu	37	22	22280013	22280013	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22280013G>A	ENST00000407142.1	-	5	1470	c.410C>T	c.(409-411)gCa>gTa	p.A137V	PPM1F_ENST00000397495.4_Missense_Mutation_p.A305V|PPM1F_ENST00000538191.1_Missense_Mutation_p.A201V|PPM1F_ENST00000263212.5_Missense_Mutation_p.A305V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	305					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCACCCAATGCTTCAATGCG	0.627000													5	44					0	0	0.014758	0	0
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:104114738C>T	ENST00000361355.4	+	4	791	c.175C>T	c.(175-177)Cca>Tca	p.P59S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	59					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.P59S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAGGTCTCTCCACCAAATGA	0.318000													9	37					0	0	0.006214	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62519745G>A	ENST00000394807.3	-	2	1667	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D514D(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGCGGTAGAGGTCCCCTGACT	0.602000													34	58					0	0	0.013726	0	0
UNC79	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94083525C>A	ENST00000553484.1	+	29	4319	c.4165C>A	c.(4165-4167)Ctc>Atc	p.L1389I	UNC79_ENST00000256339.4_Missense_Mutation_p.L1190I|UNC79_ENST00000555664.1_Missense_Mutation_p.L1367I|UNC79_ENST00000393151.2_Missense_Mutation_p.L1367I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1367						integral to membrane		p.L1190I(2)|p.L1389I(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTTCAGGTGCTCAAATACTG	0.433000													12	49					1.61879e-10	2.01234e-10	0.013537	1	0
EP400	57634	broad.mit.edu	37	12	132546780	132546780	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:132546780C>T	ENST00000333577.4	+	47	8227	c.8118C>T	c.(8116-8118)gtC>gtT	p.V2706V	EP400_ENST00000389561.2_Silent_p.V2670V|EP400_ENST00000330386.6_Silent_p.V2589V|EP400_ENST00000332482.4_Silent_p.V2633V|EP400_ENST00000389562.2_Silent_p.V2669V			Q96L91	EP400_HUMAN	E1A binding protein p400	2706	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2669V(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)		TTCGAGCGGTCACTTCTGTGA	0.662000													14	95					0	0	0.016723	0	0
SYK	6850	broad.mit.edu	37	9	93650153	93650153	+	Nonsense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:93650153T>G	ENST00000375754.4	+	12	1852	c.1704T>G	c.(1702-1704)taT>taG	p.Y568*	SYK_ENST00000375751.4_Nonsense_Mutation_p.Y545*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Y545*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Y568*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	568	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CATTCTCCTATGGGCAGAAGC	0.468000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								8	95					0	0	0.016723	0	0
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248343411A>T	ENST00000359682.2	+	1	124	c.124A>T	c.(124-126)Aac>Tac	p.N42Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATGGGAAACTCTGTCAT	0.522000													111	113					0	0	0.014410	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303476	5303476	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:5303476C>T	ENST00000274181.7	+	19	3023	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	962	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S962L(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTATGACTCGGAGCCAGTC	0.711000													4	5					0	0	0.014758	0	0
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:24310356C>G	ENST00000357002.4	+	4	1669	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Y433*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	518					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y518*(2)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAAACCCTACAAATGTGAAG	0.368000													13	15					0	0	0.016723	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:46066935C>A	ENST00000334670.8	+	1	605	c.560C>A	c.(559-561)gCc>gAc	p.A187D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	181	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.A187D(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TACCAGCAGGCCTGCTGCGTG	0.602000													58	124					6.3237e-29	8.91036e-29	0.014410	1	0
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	G	A	rs142920790	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:175957454G>A	ENST00000367669.3	-	17	2456	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RFWD2_ENST00000308769.8_Silent_p.L624L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	648					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L648L(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGAAGCCAGGCCTACAAAG	0.398000													13	20					0	0	0.016723	0	0
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:166930006T>A	ENST00000423058.2	-	1	143	c.126A>T	c.(124-126)aaA>aaT	p.K42N	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K42N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K42N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K42N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	42						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K42N(4)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCGTCATCTTTTTTGTCTG	0.443000													110	99					0	0	0.014410	0	0
CAPN9	10753	broad.mit.edu	37	1	230910379	230910379	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:230910379T>A	ENST00000271971.2	+	8	1066		c.e8+2		CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000354537.1_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAATTCTGGTACCGTGCTTG	0.507000													6	35					0	0	0.021553	0	0
FAM71A	149647	broad.mit.edu	37	1	212798989	212798989	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:212798989C>T	ENST00000294829.3	+	1	1201	c.770C>T	c.(769-771)gCa>gTa	p.A257V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	257								p.A257V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCTCAATGCATCCATCCCC	0.552000													15	154					0	0	0.004990	0	0
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N|RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	57					0	0	0.028581	0	0
PLXND1	23129	broad.mit.edu	37	3	129290609	129290609	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:129290609C>A	ENST00000393239.1	-	16	3334	c.3156G>T	c.(3154-3156)gaG>gaT	p.E1052D	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052D			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCCGACGCTCGAAGCGCA	0.667000													5	42					3.59834e-05	3.96817e-05	0.021553	1	0
MIR508	574513	broad.mit.edu	37	X	146318520	146318520	+	RNA	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:146318520A>G	ENST00000384857.1	-	0	25					NR_030235.1																						CCTCTGGAGTAGGGCACTACA	0.433000													5	14					0	0	0.014758	0	0
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58491902G>T	ENST00000344743.3	-	2	209	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	GLYAT_ENST00000529732.1_Missense_Mutation_p.P23Q|GLYAT_ENST00000278400.3_Missense_Mutation_p.P23Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	23					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.P23Q(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAAGGATGCTGGGAGGCTCTT	0.443000													6	34					5.9392e-07	6.81966e-07	0.021553	1	0
ANKRD44	91526	broad.mit.edu	37	2	198051794	198051794	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:198051794C>G	ENST00000282272.8	-	1	39	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E22Q|ANKRD44_ENST00000328737.2_5'UTR	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	22							protein binding	p.E22Q(4)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGATCTCCTCTGGATCACCG	0.443000													31	120					0	0	0.008361	0	0
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:3651249C>G	ENST00000263087.4	-	17	2220	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	708					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E708Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGATTTCAAAACATAAA	0.542000													8	31					0	0	0.003080	0	0
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124398361G>A	ENST00000360013.3	+	51	7501	c.7374G>A	c.(7372-7374)atG>atA	p.M2458I	KALRN_ENST00000428018.2_Missense_Mutation_p.M729I|KALRN_ENST00000291478.4_Missense_Mutation_p.M761I|KALRN_ENST00000462213.1_Missense_Mutation_p.M75I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2457				E -> G (in Ref. 2; BAA76314).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M761I(1)|p.M2458I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACTAGCATGGAGGTAGAAG	0.428000													11	51					0	0	0.008291	0	0
KLHL4	56062	broad.mit.edu	37	X	86921526	86921526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:86921526C>A	ENST00000373119.4	+	11	2294	c.2149C>A	c.(2149-2151)Cta>Ata	p.L717I	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	717						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.L717I(2)		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						AGTGGTGAAGCTACCCTAAAG	0.358000													5	13					0.0215528	0.0220239	0.021553	1	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:56140121C>G	ENST00000319441.4	+	9	1508	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	PCK1_ENST00000543666.1_Silent_p.L131L|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000													18	129					0	0	0.004990	0	0
AURKC	6795	broad.mit.edu	37	19	57744834	57744834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57744834G>T	ENST00000302804.7	+	5	628	c.442G>T	c.(442-444)Gag>Tag	p.E148*	AURKC_ENST00000415300.2_Nonsense_Mutation_p.E129*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.E145*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.E114*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	148	Protein kinase.		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E114*(1)|p.E148*(1)|p.E114Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGATAATAGAGGAGTTGGC	0.478000													13	69					2.27111e-07	2.64256e-07	0.013537	1	0
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:42621437C>A	ENST00000389341.5	-	5	334	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529952.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529067.1_Missense_Mutation_p.A90S|POU2F2_ENST00000526816.2_Missense_Mutation_p.A90S|POU2F2_ENST00000342301.4_Missense_Mutation_p.A90S|POU2F2_ENST00000560398.1_Missense_Mutation_p.A112S	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	90					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A90S(4)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				ATGAGTTGGGCCTGGGGCAGA	0.642000													30	94					7.01153e-11	8.79971e-11	0.007291	1	0
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:21036154G>A	ENST00000247986.2	-	4	958	c.648C>T	c.(646-648)atC>atT	p.I216I	KIF17_ENST00000375044.1_Silent_p.I116I|KIF17_ENST00000400463.3_Silent_p.I216I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	216	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I216I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCGATGCTGATGGTGAAGA	0.597000													15	66					0	0	0.020292	0	0
PAX3	5077	broad.mit.edu	37	2	223084905	223084905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:223084905G>T	ENST00000350526.4	-	7	1263	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	PAX3_ENST00000336840.6_Missense_Mutation_p.P376H|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.P376H|PAX3_ENST00000409551.3_Missense_Mutation_p.P375H|PAX3_ENST00000392070.2_Missense_Mutation_p.P376H|PAX3_ENST00000344493.4_Missense_Mutation_p.P376H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	376					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P376H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTTGGAGGGCCCCGACGG	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	38					1.23904e-05	1.37917e-05	0.014758	1	0
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:89449995C>A	ENST00000539437.1	-	5	514	c.378G>T	c.(376-378)cgG>cgT	p.R126R	MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000542878.1_Silent_p.R90R|MFGE8_ENST00000268150.8_Silent_p.R134R|MFGE8_ENST00000566497.1_Silent_p.R134R|MFGE8_ENST00000268151.7_Silent_p.R134R			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	134	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.R134R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCACATCCTCCGCAGCAGGT	0.587000													23	44					1.85244e-09	2.26833e-09	0.018920	1	0
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:45410214C>G	ENST00000332700.6	-	4	1046	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAATTCTCCCTCCATCTTGG	0.502000													12	44					0	0	0.010729	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:108609503G>A	ENST00000264047.2	+	4	644	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G123E|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G18E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	123					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G123E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAATCTATGGAAAACGCATG	0.448000													14	53					0	0	0.020292	0	0
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:3649416C>T	ENST00000378295.4	+	14	1839	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TP73_ENST00000604074.1_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.R481C|TP73_ENST00000604479.1_Missense_Mutation_p.R466C|TP73_ENST00000357733.3_Missense_Mutation_p.R481C|TP73_ENST00000378290.4_Missense_Mutation_p.R491C|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000346387.4_Missense_Mutation_p.R466C|TP73_ENST00000378288.4_Missense_Mutation_p.R513C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	562					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.R562C(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCAGCTGCTCCGCTCTAGCAA	0.682000													18	13					0	0	0.006122	0	0
KRT8	3856	broad.mit.edu	37	12	53291304	53291304	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53291304G>C	ENST00000552551.1	-	9	1792	c.1360C>G	c.(1360-1362)Cgc>Ggc	p.R454G	KRT8_ENST00000546897.1_Missense_Mutation_p.R454G|KRT8_ENST00000552150.1_Missense_Mutation_p.R482G|KRT8_ENST00000293308.6_Missense_Mutation_p.R454G			P05787	K2C8_HUMAN	keratin 8	454	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCTGGTGCGGCTGAAggag	0.637000													9	78					0	0	0.004482	0	0
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:71977541G>A	ENST00000266674.5	+	18	2062	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.R560K|LGR5_ENST00000536515.1_Missense_Mutation_p.R512K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	584						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGTTTTCAGATCCCCTCTG	0.493000													22	96					0	0	0.012319	0	0
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:95756262C>A	ENST00000272418.2	-	11	1145	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.G313C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCGGAGGCCGTAACCTAGA	0.572000													28	88					7.07758e-08	8.38421e-08	0.024334	1	0
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:123601254C>T	ENST00000336139.4	-	3	705	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZNF202_ENST00000529691.1_Missense_Mutation_p.E115K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E115K			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCCTCCTCGCCACTTTCT	0.582000													38	86					0	0	0.025465	0	0
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:39898382G>T	ENST00000597629.1	+	2	116		c.e2-1		ZFP36_ENST00000594045.1_Splice_Site|ZFP36_ENST00000248673.3_Splice_Site			P26651	TTP_HUMAN	ZFP36 ring finger protein						positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.?(2)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCGCAGAGCCTCCTGT	0.672000													114	213					4.35912e-55	6.22256e-55	0.014410	1	0
PLCL2	23228	broad.mit.edu	37	3	17053070	17053070	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:17053070A>T	ENST00000418129.2	+	2	2319	c.1854A>T	c.(1852-1854)acA>acT	p.T618T	PLCL2_ENST00000432376.1_Silent_p.T618T|PLCL2_ENST00000396755.2_Silent_p.T618T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	744	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T618T(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCGCCAATACAAAAGACTCTG	0.507000													5	24					0	0	0.014758	0	0
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58275103G>T	ENST00000360374.2	-	1	475	c.476C>A	c.(475-477)gCa>gAa	p.A159E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGGTGCCTGCTGCATGGAT	0.507000													12	31					2.27111e-07	2.64256e-07	0.013537	1	0
UNC79	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:94083609C>T	ENST00000553484.1	+	29	4403	c.4249C>T	c.(4249-4251)Cgg>Tgg	p.R1417W	UNC79_ENST00000256339.4_Missense_Mutation_p.R1218W|UNC79_ENST00000555664.1_Missense_Mutation_p.R1395W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1395W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395						integral to membrane		p.R1218W(2)|p.R1417W(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTCACATCCGGCAGATGTG	0.502000													13	46					0	0	0.016723	0	0
SDK2	54549	broad.mit.edu	37	17	71427710	71427710	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:71427710C>A	ENST00000392650.3	-	11	1411	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	SDK2_ENST00000388726.3_Missense_Mutation_p.G471W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	471	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.G471W(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGTAGGTCCCCGCATCGGAG	0.627000													57	179					1.67886e-27	2.35544e-27	0.014410	1	0
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:58275540C>G	ENST00000360374.2	-	1	38	c.39G>C	c.(37-39)ttG>ttC	p.L13F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTTAATCCCAAGAGGATAA	0.443000													11	30					0	0	0.008291	0	0
NABP2	79035	broad.mit.edu	37	12	56619478	56619478	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56619478G>C	ENST00000380198.2	+	3	787	c.290_splice	c.e3+1	p.E97_splice	NABP2_ENST00000341463.5_Splice_Site_p.E97_splice|NABP2_ENST00000267023.4_Splice_Site_p.E97_splice					nucleic acid binding protein 2									p.E97Q(1)									GAAGATTGGAGAGTAAGTGCT	0.488000													17	99					0	0	0.006122	0	0
SMG1	23049	broad.mit.edu	37	16	18856973	18856973	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:18856973T>C	ENST00000446231.2	-	39	6409	c.5996_splice	c.e39-1	p.K1999_splice	SMG1_ENST00000389467.3_Splice_Site_p.K1999_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1999					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	p.K1995K(1)|p.K1999K(1)		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						TTTTCTCTTCTCTGACCAAGA	0.363000													8	43					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:105416868C>G	ENST00000333244.5	-	7	5039	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						nucleus		p.L1640L(2)		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)			GGTCCCCCTCCAGCTGCGCAC	0.602000													56	228					0	0	0.014410	0	0
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:11185641T>A	ENST00000379446.5	-	7	2425	c.2259A>T	c.(2257-2259)gcA>gcT	p.A753A	NEDD9_ENST00000504387.1_Silent_p.A753A|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	753	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	p.A753A(6)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCAGTTTGTGTGCACTGAGGA	0.547000													57	56					0	0	0.014410	0	0
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:39088536T>G	ENST00000295373.6	-	5	1142	c.1016A>C	c.(1015-1017)gAt>gCt	p.D339A	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D339A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAGAATCATCTACACTTCT	0.333000													10	14					0	0	0.006214	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:33947350C>T	ENST00000382102.3	-	6	1343	c.1286G>A	c.(1285-1287)aGc>aAc	p.S429N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.S370N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S429N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	429					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.S429N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCAAACAGGCTGCACAGGAC	0.507000													24	100					0	0	0.018920	0	0
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:58786579G>A	ENST00000589222.1	+	5	282		c.e5-1		BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCTAATGCAGATACATCAAG	0.343000													11	32					0	0	0.010729	0	0
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:57346020T>A	ENST00000398138.3	-	4	1603	c.747A>T	c.(745-747)tcA>tcT	p.S249S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	249					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.S249S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTTGTTCAGCTGATTTCTTAT	0.468000													12	23					0	0	0.010729	0	0
CCDC135	84229	broad.mit.edu	37	16	57761225	57761225	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000394337.4_Silent_p.L700L|CCDC135_ENST00000336825.8_Silent_p.L635L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	700						cytoplasm		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552000													20	85					0	0	0.008871	0	0
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100957082C>T	ENST00000548884.1	+	11	1775	c.1234C>T	c.(1234-1236)Ctt>Ttt	p.L412F	NR1H4_ENST00000549996.1_Missense_Mutation_p.L365F|NR1H4_ENST00000551379.1_Missense_Mutation_p.L426F|NR1H4_ENST00000392986.3_Missense_Mutation_p.L416F|NR1H4_ENST00000188403.7_Missense_Mutation_p.L422F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L412F(2)|p.L426F(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GGAGCCACTTCTTGATGTGCT	0.383000													18	21					0	0	0.006122	0	0
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Translation_Start_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:70806253G>A	ENST00000380675.2	+	0	3597				BDP1_ENST00000358731.4_Missense_Mutation_p.G1112S			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.G1112S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGCCTCTAGGTGAAATGCA	0.433000													8	28					0	0	0.004482	0	0
HPS5	11234	broad.mit.edu	37	11	18327041	18327041	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18327041C>T	ENST00000396253.3	-	7	945		c.e7-1		HPS5_ENST00000438420.2_Splice_Site|HPS5_ENST00000349215.3_Splice_Site|HPS5_ENST00000531848.1_Splice_Site	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5							cytosol		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGATCTAGAAAGTAA	0.343000									Hermansky-Pudlak syndrome				4	24					0	0	0.009096	0	0
RIN2	54453	broad.mit.edu	37	20	19955398	19955398	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:19955398C>G	ENST00000255006.6	+	8	1025	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	243					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.L292L(1)|p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCGTCAGCTCTGCCTTATAA	0.552000													7	74					0	0	0.001984	0	0
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:43621828C>G	ENST00000398457.2	+	2	303	c.43C>G	c.(43-45)Cct>Gct	p.P15A	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.P15A(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	aaagccctgccctcaGGTGTG	0.552000													9	10					0	0	0.004482	0	0
PSG2	5670	broad.mit.edu	37	19	43576092	43576092	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:43576092G>T	ENST00000406487.1	-	4	822	c.724C>A	c.(724-726)Ccc>Acc	p.P242T		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGAATTCTGGGGAGGTCTGGA	0.498000													26	87					7.07758e-08	8.38421e-08	0.024334	1	0
SRCAP	10847	broad.mit.edu	37	16	30732216	30732216	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:30732216G>T	ENST00000262518.4	+	20	3555	c.3170G>T	c.(3169-3171)gGg>gTg	p.G1057V	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057V|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	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	p.G1057L(1)		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)			TCACCTGCCGGGCCCCCGCTT	0.642000													14	64					1.5842e-08	1.91126e-08	0.016723	1	0
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:55418972C>A	ENST00000312422.2	+	1	593	c.593C>A	c.(592-594)aCa>aAa	p.T198K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T198K(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGTTGTGACAGCCAACAGT	0.453000													25	83					2.21704e-12	2.83963e-12	0.016522	1	0
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:26094815G>T	ENST00000313735.6	-	18	2316	c.2083C>A	c.(2083-2085)Ccc>Acc	p.P695T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.P695T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TAGAGCTTGGGGATCTGAATG	0.567000													9	32					2.74318e-10	3.39077e-10	0.006214	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:106084040G>A	ENST00000357242.5	+	10	1819	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D549N|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D543N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D549N(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCAGAGTGATACTGGCAT	0.473000													21	32					0	0	0.010504	0	0
LILRP2	79166	broad.mit.edu	37	19	55221963	55221963	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55221963C>T	ENST00000413439.1	+	0	1490																											CGTGACCCTGCTGTGTCAGTC	0.622000													12	56					0	0	0.020292	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962399	235962399	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:235962399C>T	ENST00000409212.1	+	6	3338	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	SH3BP4_ENST00000344528.4_Missense_Mutation_p.S944F|SH3BP4_ENST00000392011.2_Missense_Mutation_p.S944F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	944					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.S944F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTGAACTCCCTGGACGTT	0.597000													14	107					0	0	0.016723	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:51872150G>C	ENST00000371497.5	+	2	3040	c.2153G>C	c.(2152-2154)tGc>tCc	p.C718S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.C715S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C715S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C718S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCTTCCTGCTCCAGCCCA	0.582000													22	49					0	0	0.012319	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:96454680C>T	ENST00000285979.6	+	4	687	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CYP2C18_ENST00000339022.5_Missense_Mutation_p.P163L|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.P163L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTAGCCTCACCCTGTGATCCC	0.328000													20	31					0	0	0.016522	0	0
ZNF407	55628	broad.mit.edu	37	18	72346391	72346391	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:72346391C>G	ENST00000299687.5	+	1	3416	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C	ZNF407_ENST00000582337.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1139C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1139C(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAGATATGTCTAAAGTGCTC	0.358000													6	27					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179407526	179407526	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179407526C>A	ENST00000589042.1	-	348	97279	c.97055G>T	c.(97054-97056)cGt>cTt	p.R32352L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23287L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29784L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23412L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30711L|TTN_ENST00000342175.6_Missense_Mutation_p.R23479L|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30711	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R23287L(1)|p.R29784L(1)|p.R23479H(1)|p.R29782H(1)|p.R23412L(1)|p.R23479L(1)|p.R29782L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGTGACACGCTCTGATTC	0.458000													18	115					7.81268e-19	1.06087e-18	0.004990	1	0
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52394608G>C	ENST00000354957.3	-	5	1065	c.781C>G	c.(781-783)Cca>Gca	p.P261A	ZNF649_ENST00000600738.1_Missense_Mutation_p.P233A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTATGGTTTCTCTCCT	0.502000													18	60					0	0	0.006122	0	0
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403000													70	64					0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:124431933C>T	ENST00000360013.3	+	58	8354	c.8227C>T	c.(8227-8229)Ctc>Ttc	p.L2743F	KALRN_ENST00000428018.2_Missense_Mutation_p.L1014F|KALRN_ENST00000291478.4_Missense_Mutation_p.L1046F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2742	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2743F(2)|p.L1046F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACATCACTCTCCATGACAC	0.488000													8	29					0	0	0.003080	0	0
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:12502558C>A	ENST00000419318.1	-	4	1307	c.558G>T	c.(556-558)acG>acT	p.T186T	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.T218T			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403000													26	32					1.64293e-13	2.13142e-13	0.018920	1	0
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:80546044A>G	ENST00000265361.3	-	2	615	c.54T>C	c.(52-54)tgT>tgC	p.C18C	SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.C18C|SEMA3C_ENST00000544525.1_Silent_p.C36C|SEMA3C_ENST00000487621.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					immune response|response to drug	membrane	receptor activity	p.C18C(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCTTTCACACAGATAGAAC	0.348000													14	26					0	0	0.024245	0	0
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:48428803C>T	ENST00000224605.2	-	2	1348	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	361					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.T361T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTTCTGCATCGTCTTCTCGT	0.612000													13	45					0	0	0.016723	0	0
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1434L(3)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGAAACATCGATATGCCAG	0.537000													42	47					0	0	0.010771	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:127651448C>A	ENST00000373555.4	-	18	2068	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	579						Golgi cisterna membrane		p.E579*(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGAGTGCTTCGGCCTGCAAT	0.657000													26	31					8.24728e-16	1.1016e-15	0.024334	1	0
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55523797C>A	ENST00000305377.5	+	1	333	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82K(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CGGCTGAACACACCAATGTAT	0.388000													29	78					6.38683e-12	8.12474e-12	0.008361	1	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:147230857C>G	ENST00000271348.2	-	2	651	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E164Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000													16	130					0	0	0.024245	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:63235916C>A	ENST00000540857.1	-	4	499	c.367G>T	c.(367-369)Gga>Tga	p.G123*	HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*|HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.G133*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133								p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443000													21	41					1.87028e-06	2.12887e-06	0.012319	1	0
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184801039G>C	ENST00000335012.2	-	2	699	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	170								p.S170*(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GCTCTCTTTTGAAATTAAGGC	0.463000													23	51					0	0	0.018920	0	0
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:53451395T>C	ENST00000314250.6	+	12	1180	c.890T>C	c.(889-891)aTg>aCg	p.M297T	TENC1_ENST00000549700.1_Missense_Mutation_p.M297T|TENC1_ENST00000379902.3_Missense_Mutation_p.M173T|TENC1_ENST00000546602.1_Missense_Mutation_p.M297T|TENC1_ENST00000451358.1_Missense_Mutation_p.M297T|TENC1_ENST00000552570.1_Missense_Mutation_p.M297T|TENC1_ENST00000314276.3_Missense_Mutation_p.M307T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	297					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.M307T(2)|p.M297T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCATCAGAATGAACAGCAGC	0.537000													213	183					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:56382250G>A	ENST00000301295.6	+	7	2834	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	NLRP4_ENST00000587891.1_Silent_p.L729L|NLRP4_ENST00000346986.5_Silent_p.L748L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804							ATP binding	p.L804L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATGCTTCTGCGTAACAAGA	0.527000													16	49					0	0	0.028581	0	0
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:125486593G>A	ENST00000259466.1	+	1	325	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATGGCATTTGGGAACACTGA	0.473000													39	50					0	0	0.023175	0	0
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:37098576C>T	ENST00000300105.6	-	1	1027	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	16					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G16S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGAAAGCACCAACGGTGGTT	0.473000													41	79					0	0	0.027894	0	0
ADAM12	8038	broad.mit.edu	37	10	127782626	127782626	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:127782626T>A	ENST00000368679.4	-	11	1391	c.1082A>T	c.(1081-1083)gAc>gTc	p.D361V	ADAM12_ENST00000368676.4_Missense_Mutation_p.D361V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	361	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.D361V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCAGTGTGTCATGATTCAT	0.517000													13	68					0	0	0.013537	0	0
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22133522G>T	ENST00000408935.1	+	1	226	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V76F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCACTCATCTGTCACTGTGCC	0.433000													33	168					5.60225e-13	7.21786e-13	0.009535	1	0
LCK	3932	broad.mit.edu	37	1	32739958	32739958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:32739958G>A	ENST00000333070.4	+	2	128	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	LCK_ENST00000336890.5_Missense_Mutation_p.E10K|LCK_ENST00000373564.3_Missense_Mutation_p.E10K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	10	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.E10K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCACACCCGGAAGATGACTG	0.562000			T	TRB@	T-ALL								8	64					0	0	0.004482	0	0
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:32438301C>T	ENST00000283365.9	+	15	1684	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512000													10	47					0	0	0.010729	0	0
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:73213554C>T	ENST00000377110.2	-	20	3036	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	TRPM3_ENST00000377105.1_Silent_p.Q790Q|TRPM3_ENST00000377106.1_Silent_p.Q803Q|TRPM3_ENST00000408909.2_Silent_p.Q790Q|TRPM3_ENST00000360823.2_Silent_p.Q793Q|TRPM3_ENST00000396280.5_Silent_p.Q780Q|TRPM3_ENST00000377111.2_Silent_p.Q931Q|TRPM3_ENST00000396285.1_Silent_p.Q778Q|TRPM3_ENST00000357533.2_Silent_p.Q935Q|TRPM3_ENST00000358082.3_Silent_p.Q793Q|TRPM3_ENST00000396292.4_Silent_p.Q803Q|TRPM3_ENST00000423814.3_Silent_p.Q958Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	956						integral to membrane	calcium channel activity	p.Q803Q(1)|p.Q935Q(1)|p.Q931Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTCACTTTCTGTAGCAACT	0.493000													12	56					0	0	0.013537	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31378209A>G	ENST00000297142.3	-	2	996	c.674T>C	c.(673-675)cTt>cCt	p.L225P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	225					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L225P(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAATTATCAAGAGTCCCATG	0.527000													39	70					0	0	0.027894	0	0
ZNF860	344787	broad.mit.edu	37	3	32031984	32031984	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:32031984T>A	ENST00000360311.4	+	2	1962	c.1413T>A	c.(1411-1413)atT>atA	p.I471I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I471I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.408000													6	22					0	0	0.001984	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779566	156779566	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156779566C>T	ENST00000392306.2	-	6	770	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SH2D2A_ENST00000368199.3_Missense_Mutation_p.E201K|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E183K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	201	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E211K(1)|p.E201K(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGATTCTTCGGTCCTCAGG	0.582000													37	213					0	0	0.025465	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706012	41706012	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:41706012C>A	ENST00000379485.1	-	1	870	c.636G>T	c.(634-636)gaG>gaT	p.E212D	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E146D	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	212							protein binding	p.E212D(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGCTAGAGTCTCCTCCCGAA	0.562000													17	107					6.49762e-13	8.35499e-13	0.006122	1	0
HMCN1	83872	broad.mit.edu	37	1	186014906	186014906	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:186014906C>T	ENST00000271588.4	+	41	6620	c.6391C>T	c.(6391-6393)Ccc>Tcc	p.P2131S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2131S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2131	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P2131S(1)		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						TGATGCTATTCCCCCACCTAC	0.418000													4	33					0	0	0.009096	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143995833A>G	ENST00000323110.2	-	5	803	c.799_splice	c.e5-1	p.G267_splice		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	267					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.G267G(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACAGTTGTCACCTGTCCAGG	0.577000									Familial Hyperaldosteronism type I				7	22					0	0	0.003080	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:75014929C>G	ENST00000379727.3	-	2	708	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CYP1A1_ENST00000395048.2_Silent_p.L170L|CYP1A1_ENST00000567032.1_Silent_p.L170L|CYP1A1_ENST00000395049.4_Silent_p.L170L|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	170					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.L170L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGTGCTTATCAGGACCTCAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				24	83					0	0	0.016522	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390760	208390760	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:208390760C>A	ENST00000367033.3	-	2	1265	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	170	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.G170W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAATCACCCCGTACATGGTG	0.587000													34	262					5.90632e-09	7.17862e-09	0.012213	1	0
RPRD1B	58490	broad.mit.edu	37	20	36694555	36694555	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36694555G>T	ENST00000373433.4	+	6	1130	c.728G>T	c.(727-729)cGc>cTc	p.R243L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	243								p.R243L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATAACGGGCGCCTGGCAGCA	0.448000													16	95					1.5739e-10	1.964e-10	0.028581	1	0
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:48543473G>T	ENST00000317697.3	-	4	712	c.543C>A	c.(541-543)aaC>aaA	p.N181K	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N181K	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	181					intracellular signal transduction	cytoplasm|nucleus		p.N181K(2)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGCCTATTAGGTTGATGACTC	0.522000													16	51					8.60227e-14	1.12379e-13	0.028581	1	0
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:114185958G>A	ENST00000297405.5	-	4	946	c.702C>T	c.(700-702)atC>atT	p.I234I	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.I234I|CSMD3_ENST00000352409.3_Silent_p.I234I|CSMD3_ENST00000343508.3_Silent_p.I194I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	234	Sushi 1.					integral to membrane|plasma membrane		p.I234I(2)|p.I194I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTCTACAGATAGGAACAG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	37					0	0	0.008871	0	0
EIF5B	9669	broad.mit.edu	37	2	99985017	99985017	+	Missense_Mutation	SNP	G	G	C	rs3205291		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:99985017G>C	ENST00000289371.5	+	7	1552	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	450					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K450N(1)		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						AAGATAAAAAGAGGAAAAAAA	0.353000													6	30					0	0	0.001984	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176995	140176995	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140176995A>T	ENST00000378132.1	+	1	2552	c.2446A>T	c.(2446-2448)Atg>Ttg	p.M816L	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031495.1	NP_113683.1												p.M816L(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATTCTATATGATTTCTAC	0.284000													8	13					0	0	0.003080	0	0
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:25861687A>C	ENST00000376351.3	+	7	1983	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	542						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I542L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGTTTCTCATTGGCTGGAC	0.453000													14	28					0	0	0.020292	0	0
PPM1L	151742	broad.mit.edu	37	3	160474243	160474243	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:160474243G>C	ENST00000498165.1	+	1	248	c.147G>C	c.(145-147)gtG>gtC	p.V49V	PPM1L_ENST00000497343.1_Silent_p.V49V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	49					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGACCATCGTGAAGTCCAGCC	0.562000													18	104					0	0	0.004990	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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.Q2741Q(3)|p.Q2742Q(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)		agcagcagcaacagcagcagc	0.602000													4	74					0	0	0.021553	0	0
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:5463332C>T	ENST00000345221.3	-	4	1238	c.684G>A	c.(682-684)gaG>gaA	p.E228E	NLRP1_ENST00000577119.1_Silent_p.E228E|NLRP1_ENST00000572272.1_Silent_p.E228E|NLRP1_ENST00000262467.5_Silent_p.E228E|NLRP1_ENST00000269280.4_Silent_p.E228E|NLRP1_ENST00000354411.3_Silent_p.E228E|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488000													6	27					0	0	0.021553	0	0
TRPC4	7223	broad.mit.edu	37	13	38266380	38266380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:38266380C>A	ENST00000379705.3	-	4	1847	c.990G>T	c.(988-990)atG>atT	p.M330I	TRPC4_ENST00000447043.1_Missense_Mutation_p.M330I|TRPC4_ENST00000426868.2_Missense_Mutation_p.M330I|TRPC4_ENST00000338947.5_Missense_Mutation_p.M157I|TRPC4_ENST00000379673.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379679.1_Missense_Mutation_p.M157I|TRPC4_ENST00000355779.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379681.3_Missense_Mutation_p.M330I|TRPC4_ENST00000358477.2_Missense_Mutation_p.M330I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	330					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.M330I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACATGTCACCATCTTCACTG	0.478000													4	28					0.00909568	0.009375	0.009096	1	0
FAM160A2	84067	broad.mit.edu	37	11	6238941	6238941	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6238941C>A	ENST00000265978.4	-	9	2275	c.1917G>T	c.(1915-1917)gaG>gaT	p.E639D	FAM160A2_ENST00000449352.2_Missense_Mutation_p.E625D|FAM160A2_ENST00000524416.1_Missense_Mutation_p.E625D	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	625					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACCAGGGccctcccctgcac	0.662000													5	24					0.014758	0.0151397	0.014758	1	0
INPPL1	3636	broad.mit.edu	37	11	71940249	71940249	+	Missense_Mutation	SNP	G	G	T	rs17847214	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:71940249G>T	ENST00000298229.2	+	5	838	c.634G>T	c.(634-636)Gct>Tct	p.A212S	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	212					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.A212S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTACCCTCGCTACCTCATG	0.622000													5	32					3.59834e-05	3.96817e-05	0.021553	1	0
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:31595220G>A	ENST00000379416.3	-	17	1778	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	577					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P577L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGGGGCAGGGGCCGGCCCAC	0.622000													39	182					0	0	0.027894	0	0
TENM1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:123556156G>A	ENST00000422452.2	-	24	4500	c.4437C>T	c.(4435-4437)gaC>gaT	p.D1479D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.D1472D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1474D(2)									CAATTTTGCAGTCACAGTCAG	0.448000													16	40					0	0	0.024245	0	0
ASXL3	80816	broad.mit.edu	37	18	31326136	31326136	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:31326136G>C	ENST00000269197.5	+	12	6324	c.6324G>C	c.(6322-6324)atG>atC	p.M2108I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAATGAAATGAAAGAACAGT	0.383000													3	79					0	0	0.004672	0	0
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	67										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602000													5	43					0	0	0.021553	0	0
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:29001982C>G	ENST00000282397.4	-	9	1434	c.1183G>C	c.(1183-1185)Gta>Cta	p.V395L	FLT1_ENST00000541932.1_Missense_Mutation_p.V395L|FLT1_ENST00000539099.1_Missense_Mutation_p.V395L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	395	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.V395L(4)|p.V395I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCAGTTACGTCCTTGATA	0.388000													15	39					0	0	0.024245	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219942919C>T	ENST00000356853.5	-	6	731	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NHEJ1_ENST00000409720.1_Missense_Mutation_p.E200K|NHEJ1_ENST00000483627.1_5'UTR	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	p.E200K(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTGCATGCCTCTGGCAGTTTC	0.478000								Non-homologous end-joining					21	39					0	0	0.012319	0	0
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44149840C>A	ENST00000223357.3	+	11	1600	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632000													13	40					2.27111e-07	2.64256e-07	0.013537	1	0
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54338891A>G	ENST00000243056.3	+	2	1000	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	282						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S282G(2)|p.S282R(1)		breast(1)|large_intestine(1)|skin(1)	3						ATACGCGGCTAGCAAGTTCAT	0.607000			T	NUP98	AML								27	109					0	0	0.027356	0	0
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:33292344C>G	ENST00000373475.5	+	3	898	c.644C>G	c.(643-645)tCa>tGa	p.S215*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.S215*|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.S215*|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	215						nucleus	calcium-dependent protein binding	p.S215*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCTCTTCTTCAAACAATAAC	0.443000													12	31					0	0	0.013537	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular region	protein binding	p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													7	47					0	0	0.018920	0	0
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:118532435G>C	ENST00000529101.1	-	6	573	c.528C>G	c.(526-528)gaC>gaG	p.D176E	TREH_ENST00000530256.1_Missense_Mutation_p.D53E|TREH_ENST00000397925.1_Intron|TREH_ENST00000264029.4_Missense_Mutation_p.D176E|TREH_ENST00000525958.1_Intron			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	176					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.D53E(2)|p.D176E(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CCCAGTAGGAGTCCCTGGGGA	0.632000													18	36					0	0	0.007413	0	0
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:40099000C>T	ENST00000261435.6	+	3	456	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	14						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.R14W(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATCCTTTTCGGAAGACTGC	0.413000													11	25					0	0	0.013537	0	0
PLCB1	23236	broad.mit.edu	37	20	8745806	8745806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:8745806G>A	ENST00000378641.3	+	26	3206	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E911K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E911K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	911					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E911K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGACCATCGAAGAACTAAA	0.418000													6	25					0	0	0.001984	0	0
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	G	T	rs113394891	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:194080147G>T	ENST00000347624.3	-	2	1711	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	LRRC15_ENST00000439944.2_Silent_p.A548A|LRRC15_ENST00000428839.1_Silent_p.A548A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542						integral to membrane		p.A542A(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597000													102	71					6.00224e-42	8.54014e-42	0.014410	1	0
MYLIP	29116	broad.mit.edu	37	6	16143378	16143378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:16143378C>T	ENST00000349606.4	+	3	553	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	MYLIP_ENST00000356840.3_Nonsense_Mutation_p.Q198*			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	198	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q198*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TAGCGAAGGGCAGAAACTGCT	0.443000													6	52					0	0	0.021553	0	0
GCK	2645	broad.mit.edu	37	7	44184835	44184835	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44184835C>T	ENST00000403799.3	-	10	1767	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	GCK_ENST00000395796.3_Missense_Mutation_p.S432N|GCK_ENST00000345378.2_Missense_Mutation_p.S434N|GCK_ENST00000437084.1_Missense_Mutation_p.S416N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.S433N(1)|p.S434N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCTCGCAGCTGGGCGTCAG	0.657000													8	18					0	0	0.003080	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886918	47886918	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:47886918G>C	ENST00000396105.1	-	3	1677	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	ZNFX1_ENST00000371752.1_Silent_p.L477L|ZNFX1_ENST00000371754.4_Silent_p.L477L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	477							metal ion binding	p.L477L(2)|p.L281L(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTCGGCAGAGATCTTCCT	0.483000													13	88					0	0	0.016723	0	0
LRRC31	79782	broad.mit.edu	37	3	169579498	169579498	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:169579498C>G	ENST00000316428.5	-	2	336	c.279G>C	c.(277-279)ttG>ttC	p.L93F	LRRC31_ENST00000523069.1_Missense_Mutation_p.L93F|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L93F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	93								p.L93F(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTATTCAAATCTAGAC	0.428000													33	272					0	0	0.013726	0	0
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:49373271C>T	ENST00000293549.3	+	2	161	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	42					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.S42F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AACGTAGCCTCCTCCACGAAC	0.552000													25	67					0	0	0.007291	0	0
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428000													14	23					2.32078e-09	2.83917e-09	0.024245	1	0
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:136512860A>T	ENST00000308191.6	+	13	1538	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q412L(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AACAAGGCCCAGTGGAAGAGC	0.637000													6	12					0	0	0.001984	0	0
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:150924904C>A	ENST00000261800.5	-	9	5796	c.5784G>T	c.(5782-5784)ctG>ctT	p.L1928L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1928					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.L1928L(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGGATTCAGCACAGATA	0.478000													24	84					2.21704e-12	2.83963e-12	0.016522	1	0
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:76343962T>A	ENST00000263187.3	+	11	1603	c.1499T>A	c.(1498-1500)aTa>aAa	p.I500K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	500					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I500K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTCTTGACATAGCAAGAAGA	0.348000								Mismatch excision repair (MMR)					9	14					0	0	0.006214	0	0
DDX17	10521	broad.mit.edu	37	22	38891885	38891885	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:38891885C>A	ENST00000396821.3	-	6	895	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.D187Y	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	187	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D266Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGCCATAGTCATCGGCCACC	0.438000													15	97					1.15088e-07	1.35112e-07	0.028581	1	0
IFI16	3428	broad.mit.edu	37	1	158988421	158988421	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:158988421G>T	ENST00000295809.7	+	5	1207	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	IFI16_ENST00000368132.3_Missense_Mutation_p.G318W|IFI16_ENST00000368131.4_Missense_Mutation_p.G318W|IFI16_ENST00000340979.6_Missense_Mutation_p.G318W|IFI16_ENST00000430894.2_Missense_Mutation_p.G266W|IFI16_ENST00000359709.3_Missense_Mutation_p.G262W|IFI16_ENST00000448393.2_Missense_Mutation_p.G318W			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	318	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.G318W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTGTATATGGGGTATTTAT	0.338000													8	66					5.4927e-09	6.68211e-09	0.004482	1	0
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:179077723C>G	ENST00000502732.1	-	12	2882	c.2679G>C	c.(2677-2679)aaG>aaC	p.K893N	ABL2_ENST00000504405.1_Missense_Mutation_p.K754N|ABL2_ENST00000344730.3_Missense_Mutation_p.K775N|ABL2_ENST00000511413.1_Missense_Mutation_p.K790N|ABL2_ENST00000367623.4_Missense_Mutation_p.K872N|ABL2_ENST00000408940.3_Missense_Mutation_p.K857N|ABL2_ENST00000512653.1_Missense_Mutation_p.K878N|ABL2_ENST00000507173.1_Missense_Mutation_p.K769N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	893	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K857N(2)|p.K893N(2)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCCACCATTCTTCTCTTTAC	0.617000			T	ETV6	AML								33	43					0	0	0.010818	0	0
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:119043108C>T	ENST00000334464.5	-	5	3375	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046					intracellular signal transduction		metal ion binding	p.E1046K(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATCAATTTCATTCTGTAGC	0.383000													16	59					0	0	0.024245	0	0
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149433914C>A	ENST00000286301.3	-	21	3025	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	912					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E912*(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGGCCTGCTCCTGAAGGAAG	0.612000													21	66					1.9806e-07	2.31897e-07	0.014323	1	0
IRS1	3667	broad.mit.edu	37	2	227661262	227661262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:227661262G>C	ENST00000305123.4	-	1	3213	c.2193C>G	c.(2191-2193)gaC>gaG	p.D731E		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGTTCATGTAGTCACCTGTGC	0.597000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	294					0	0	0.010729	0	0
SYT4	6860	broad.mit.edu	37	18	40851705	40851705	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:40851705C>A	ENST00000255224.3	-	3	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	SYT4_ENST00000590752.1_Silent_p.L296L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.L314L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATTTAGGCAGATGTCGAG	0.428000													5	23					0.00116845	0.00123049	0.021553	1	0
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	G	T	rs149030409		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:117491979G>T	ENST00000393203.2	+	4	1145	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGTTGGCGCGGCTTGACCGT	0.577000													18	55					3.41278e-10	4.21049e-10	0.004990	1	0
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:1930451A>T	ENST00000380815.4	-	7	926	c.657T>A	c.(655-657)gtT>gtA	p.V219V	GMDS_ENST00000530927.1_Silent_p.V189V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V219V(2)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTTCGAGTAACGAAATTAG	0.433000													31	18					0	0	0.008361	0	0
CLCF1	23529	broad.mit.edu	37	11	67132763	67132763	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:67132763G>T	ENST00000312438.7	-	3	719	c.522C>A	c.(520-522)gcC>gcA	p.A174A	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.A164A|CLCF1_ENST00000528474.1_Silent_p.A164A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	174					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTCACTGTGGGCAGGGCCAG	0.637000													8	53					2.17888e-05	2.41503e-05	0.006214	1	0
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50540459G>C	ENST00000267845.3	-	10	1525	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	375					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACATGTGCTTGAAGATTCTTC	0.507000													5	11					0	0	0.021553	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:103349497T>G	ENST00000357421.4	-	2	624	c.444A>C	c.(442-444)caA>caC	p.Q148H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	148					transport	integral to membrane|mitochondrial inner membrane		p.Q148H(2)									GGAAGCGAGCTTGCTTGCGAC	0.587000													36	109					0	0	0.017118	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:31769448A>G	ENST00000240587.4	-	2	1578	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S234S(2)|p.S417S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTCATAGCAGAGTTGGTGA	0.567000													45	102					0	0	0.008740	0	0
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:4199621C>A	ENST00000296358.4	-	5	964	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314					biomineral tissue development	extracellular space|integral to membrane		p.G314C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACTGCGCCCACCATGACC	0.577000													25	34					4.26978e-12	5.4369e-12	0.018920	1	0
SEMA3D	223117	broad.mit.edu	37	7	84628913	84628913	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:84628913C>G	ENST00000284136.6	-	17	2220	c.2177G>C	c.(2176-2178)aGc>aCc	p.S726T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	726					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGGTCGAGGCTGAAGTTTGG	0.512000													7	40					0	0	0.001984	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562000													23	70					0	0	0.016522	0	0
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248737412A>G	ENST00000328782.2	-	1	668	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216T(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACCATGATGGGGGTGAG	0.572000													26	94					0	0	0.027356	0	0
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:66467425A>G	ENST00000273854.3	-	3	1444	c.844T>C	c.(844-846)Tgg>Cgg	p.W282R	EPHA5_ENST00000511294.1_Missense_Mutation_p.W282R|EPHA5_ENST00000432638.2_Missense_Mutation_p.W282R|EPHA5_ENST00000354839.4_Missense_Mutation_p.W282R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	282	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.W282R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCACCAGCCACTCCCCTTCG	0.532000										TSP Lung(17;0.13)			12	18					0	0	0.013537	0	0
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:88482504C>T	ENST00000324166.5	+	6	2680	c.989C>T	c.(988-990)tCt>tTt	p.S330F	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.S330F|THNSL2_ENST00000402102.1_Missense_Mutation_p.S330F|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.S330F|THNSL2_ENST00000358591.2_Missense_Mutation_p.S330F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	330					threonine biosynthetic process		threonine synthase activity	p.S330F(2)|p.S330fs*2(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGGCTGCTCTCTGGCTCTGAC	0.547000													7	20					0	0	0.003080	0	0
BEST1	7439	broad.mit.edu	37	11	61730375	61730375	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61730375C>G	ENST00000449131.2	+	9	1655	c.1569C>G	c.(1567-1569)ctC>ctG	p.L523L	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000378043.4_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Silent_p.L211L|FTH1_ENST00000529191.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	583					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.L523L(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGTCTGTCCTCCACCTGAACC	0.517000													3	41					0	0	0.004672	0	0
CRHR1	1394	broad.mit.edu	37	17	43910522	43910522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:43910522G>T	ENST00000314537.5	+	9	1014	c.789G>T	c.(787-789)agG>agT	p.R263S	CRHR1_ENST00000577353.1_Missense_Mutation_p.R263S|CRHR1_ENST00000352855.5_Missense_Mutation_p.R223S|CRHR1_ENST00000398285.3_Missense_Mutation_p.R292S|CRHR1_ENST00000339069.5_Missense_Mutation_p.R162S|CRHR1_ENST00000293493.7_Missense_Mutation_p.R88S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	292					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGCAAAAGGCCTGGGGTGT	0.617000													12	133					1.36491e-13	1.77425e-13	0.016723	1	0
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:60889133G>A	ENST00000347785.3	+	6	1022	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	286	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.E286K(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCATCTGTGAAGGCACCGT	0.647000													33	57					0	0	0.013726	0	0
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:214551349G>A	ENST00000366956.5	-	14	2835	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	881					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R881W(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTCTTCCCGCCCTGAGACT	0.547000													28	45					0	0	0.006320	0	0
CTNND1	1500	broad.mit.edu	37	11	57572182	57572182	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:57572182G>A	ENST00000524630.1	+	9	2165	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	CTNND1_ENST00000399039.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.C551Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.C497Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	551					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.C551Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGGGAATGTGATGGTTTA	0.463000													5	22					0	0	0.021553	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250893	79250893	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:79250893C>T	ENST00000374759.3	-	7	1050	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.V223M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	223					amino acid transport|sodium ion transport	integral to membrane		p.V223M(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATGGTTTTCACTGACGGCTCA	0.572000													9	44					0	0	0.008291	0	0
NOX4	50507	broad.mit.edu	37	11	89184980	89184980	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:89184980G>A	ENST00000535633.1	-	3	475	c.165C>T	c.(163-165)ctC>ctT	p.L55L	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Silent_p.L54L|NOX4_ENST00000525196.1_Silent_p.L79L|NOX4_ENST00000263317.4_Silent_p.L79L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Silent_p.L79L|NOX4_ENST00000542487.1_Silent_p.L55L|NOX4_ENST00000527956.1_Silent_p.L55L|NOX4_ENST00000413594.2_Silent_p.L100L|NOX4_ENST00000343727.5_Silent_p.L55L|NOX4_ENST00000532825.1_Silent_p.L55L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Silent_p.L55L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	79					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAGCCAAGAGTGTTCGGC	0.413000													6	37					0	0	0.001984	0	0
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:214557780T>A	ENST00000366956.5	-	13	1612	c.1418A>T	c.(1417-1419)aAc>aTc	p.N473I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	473					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.N473I(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCATGGGTGTTGATAATGTT	0.562000													129	138					0	0	0.014410	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140558439A>G	ENST00000239444.2	+	1	1069	c.824A>G	c.(823-825)aAc>aGc	p.N275S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		275	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N275S(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGAGTCAACGGAGAGATT	0.423000													27	73					0	0	0.021523	0	0
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:1639197T>A	ENST00000252804.4	-	22	4353	c.4303A>T	c.(4303-4305)Acc>Tcc	p.T1435S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1435	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1435S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACAAATGGTGCATGCATCT	0.512000													6	4					0	0	0.001984	0	0
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:24593464C>A	ENST00000264463.4	-	2	643	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G46C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAATTTTGCCATCACTCCTT	0.418000										HNSCC(23;0.051)			6	22					0.0215528	0.0220239	0.021553	1	0
HDC	3067	broad.mit.edu	37	15	50534775	50534775	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:50534775G>T	ENST00000267845.3	-	12	2073	c.1671C>A	c.(1669-1671)gcC>gcA	p.A557A	HDC_ENST00000543581.1_Silent_p.A524A	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	557					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGGCATCTGGGGCCTCTTCTG	0.542000													45	98					2.35958e-20	3.22748e-20	0.009718	1	0
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:31016158C>A	ENST00000375687.4	+	6	828	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	ASXL1_ENST00000306058.5_Missense_Mutation_p.S130Y|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	135					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S135Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGAACGCATCCTGTTCTACA	0.493000			"""F, N, Mis"""		"""MDS, CMML"""								27	114					7.41945e-09	9.00098e-09	0.027356	1	0
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:62416029A>G	ENST00000330574.2	-	2	1575	c.1523T>C	c.(1522-1524)gTc>gCc	p.V508A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing	integral to membrane|integrator complex	protein binding	p.V508A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGGGTATAGACAGACAGCAG	0.577000													26	143					0	0	0.027356	0	0
KIF18B	146909	broad.mit.edu	37	17	43012664	43012664	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:43012664T>C	ENST00000587309.1	-	3	457	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	KIF18B_ENST00000438933.2_Missense_Mutation_p.Q145R|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q145R|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q145R|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q154R	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.Q145R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTTCTCCTGCTGGCGGGC	0.657000													3	33					0	0	0.004672	0	0
TSEN2	80746	broad.mit.edu	37	3	12558159	12558159	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:12558159A>T	ENST00000444864.1	+	6	1268	c.882_splice	c.e6+1	p.K294_splice	TSEN2_ENST00000284995.6_Splice_Site_p.K320_splice|TSEN2_ENST00000454502.2_Splice_Site_p.K261_splice|TSEN2_ENST00000415684.1_Splice_Site_p.K294_splice|TSEN2_ENST00000402228.3_Splice_Site_p.K320_splice|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000314571.7_Splice_Site_p.K294_splice|C3orf83_ENST00000567514.1_Intron	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	320					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.K320M(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TACTATGAGAAGGTAAGATGC	0.318000													4	31					0	0	0.014758	0	0
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:48761448C>G	ENST00000285238.8	+	28	4173	c.4093C>G	c.(4093-4095)Cag>Gag	p.Q1365E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2.		Q -> R (in dbSNP:rs11568590).		bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.Q1365E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCGCTCTCAGCTGACCAT	0.602000													12	32					0	0	0.010729	0	0
ACP5	54	broad.mit.edu	37	19	11687568	11687568	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11687568A>T	ENST00000592828.1	-	5	754	c.352T>A	c.(352-354)Tct>Act	p.S118T	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.S118T|ACP5_ENST00000412435.2_Missense_Mutation_p.S118T|ACP5_ENST00000218758.5_Missense_Mutation_p.S118T	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATCTGGGCAGAGACATTGCCA	0.567000													18	86					0	0	0.007413	0	0
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:114879140C>A	ENST00000274457.3	-	2	612	c.51G>T	c.(49-51)cgG>cgT	p.R17R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	17						cytoplasm		p.R17R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGGTGAGAAGCCGGAGTTTGC	0.468000													12	46					5.50884e-06	6.18976e-06	0.013537	1	0
OR2T6	254879	broad.mit.edu	37	1	248551236	248551236	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:248551236G>T	ENST00000355728.2	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTATGGGGGCTGAATTCT	0.562000													13	73					0.000151284	0.000163123	0.016723	1	0
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:18316688C>T	ENST00000396253.3	-	13	1783	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HPS5_ENST00000438420.2_Missense_Mutation_p.E441K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E555K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	555						cytosol		p.E555K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAATCTTCTCAGTAGTTTTA	0.398000									Hermansky-Pudlak syndrome				10	35					0	0	0.006214	0	0
PLXNA1	5361	broad.mit.edu	37	3	126746796	126746796	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:126746796A>G	ENST00000393409.2	+	23	4376	c.4376A>G	c.(4375-4377)gAg>gGg	p.E1459G	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1436G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1459					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGCTGGGGAGCCGCTGTTC	0.667000													6	34					0	0	0.004482	0	0
APOA5	116519	broad.mit.edu	37	11	116661394	116661394	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:116661394G>T	ENST00000542499.1	-	4	623	c.551C>A	c.(550-552)aCc>aAc	p.T184N	APOA5_ENST00000227665.4_Missense_Mutation_p.T184N	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	184					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.T184N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GAAGCGGCCGGTGTGGTGCAC	0.682000													11	35					1.33987e-11	1.69951e-11	0.008291	1	0
FOLR3	2352	broad.mit.edu	37	11	71850011	71850011	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:71850011G>C	ENST00000445078.2	+	3	366	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	FOLR3_ENST00000456237.1_Missense_Mutation_p.V101L|FOLR3_ENST00000442948.2_Missense_Mutation_p.S58T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	79					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAGTGCAGTCCCTGGAAG	0.572000													4	28					0	0	0.009096	0	0
COL4A6	1288	broad.mit.edu	37	X	107554022	107554022	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107554022C>A	ENST00000334504.7	-	3	333	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	COL4A6_ENST00000538570.1_Missense_Mutation_p.D34Y|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000394872.2_Missense_Mutation_p.D34Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.D35Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D34Y	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	35	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCACTGCAGTCCTGGCCCCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				10	42					6.40141e-05	6.9887e-05	0.010729	1	0
LSM5	23658	broad.mit.edu	37	7	32529942	32529942	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:32529942C>A	ENST00000450169.2	-	1	88	c.36G>T	c.(34-36)ctG>ctT	p.L12L	LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000409987.1_Silent_p.L12L|LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409909.3_Intron	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.L12L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CTAAGGGCAGCAGCTGCGACG	0.617000													11	61					4.3838e-07	5.06925e-07	0.016723	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:92927019T>C	ENST00000373079.3	-	1	1548	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly	chromatin assembly complex		p.I429V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTGGCTGGATTTCAATTTCT	0.433000													4	1					0	0	0.009096	0	0
OR6F1	343169	broad.mit.edu	37	1	247875710	247875710	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247875710T>A	ENST00000302084.2	-	1	395	c.348A>T	c.(346-348)gcA>gcT	p.A116A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCATGGCTGCCAGGAGGA	0.517000													6	43					0	0	0.021553	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49340593C>T	ENST00000263265.6	-	20	2848	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	765						cytoplasm|membrane	1-phosphatidylinositol binding	p.E765K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CATGCCCCCTCGTCTTGTGGC	0.677000													14	62					0	0	0.024245	0	0
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:32017941C>A	ENST00000375244.3	-	27	9474	c.9273G>T	c.(9271-9273)ctG>ctT	p.L3091L	TNXB_ENST00000375247.2_Silent_p.L3089L			P22105	TENX_HUMAN	tenascin XB	3136					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L3156L(2)|p.L3091L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGACCAGGAAGTGGT	0.642000													35	59					3.62531e-18	4.90747e-18	0.019004	1	0
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:171250036C>A	ENST00000354841.4	+	5	870	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	FMO1_ENST00000367750.3_Missense_Mutation_p.L247I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.L184I			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L247I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAATTCCCTCCCAACCCC	0.468000													11	48					5.16669e-11	6.50933e-11	0.010729	1	0
NDUFAF7	55471	broad.mit.edu	37	2	37464981	37464981	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:37464981A>G	ENST00000002125.4	+	4	419	c.379A>G	c.(379-381)Agg>Ggg	p.R127G	NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R100G	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7									p.R127G(1)									GGGCCCAGGTAGGGGAACCCT	0.423000													4	19					0	0	0.009096	0	0
FANCM	57697	broad.mit.edu	37	14	45644332	45644332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:45644332C>G	ENST00000267430.5	+	14	2460	c.2375C>G	c.(2374-2376)tCa>tGa	p.S792*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.S766*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	792					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S792*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGTTACCTCAACATTTATT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	24					0	0	0.021553	0	0
ZNF248	57209	broad.mit.edu	37	10	38126615	38126615	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:38126615C>T	ENST00000395867.3	-	5	718	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.V56V|ZNF248_ENST00000357328.4_Silent_p.V56V	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V56V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTTAAAGATCACTTCTGGTT	0.438000													5	38					0	0	0.014758	0	0
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247654775G>A	ENST00000522351.1	+	0	406							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V116I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGTCCTCCTGGTTGTCATGTC	0.607000													53	78					0	0	0.014410	0	0
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:45002126C>A	ENST00000372176.1	-	16	1532	c.1064G>T	c.(1063-1065)cGa>cTa	p.R355L	ELMO2_ENST00000290246.6_Missense_Mutation_p.R443L|ELMO2_ENST00000454865.2_Missense_Mutation_p.R175L|ELMO2_ENST00000396391.1_Missense_Mutation_p.R443L|ELMO2_ENST00000352077.2_Missense_Mutation_p.R441L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R260L|ELMO2_ENST00000439931.2_Missense_Mutation_p.R455L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.R443L(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCAAAGGCTCGGTCATGGGT	0.498000													18	52					5.3912e-06	6.068e-06	0.006122	1	0
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:89294166A>G	ENST00000370521.3	+	19	2781	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	PKN2_ENST00000370513.5_Missense_Mutation_p.M760V|PKN2_ENST00000370505.3_Missense_Mutation_p.M651V|PKN2_ENST00000544045.1_Missense_Mutation_p.M482V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.M808V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTCCAGGAATGGGATATGG	0.343000													5	21					0	0	0.021553	0	0
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	A	T	rs34236419		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:171715359A>T	ENST00000358196.3	+	16	2117	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	523					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R523W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACAAAGCCTCAGGGGTGTGCC	0.438000													15	13					0	0	0.028581	0	0
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:17431488C>A	ENST00000375486.4	-	2	224	c.161G>T	c.(160-162)cGt>cTt	p.R54L	PADI2_ENST00000375481.1_Missense_Mutation_p.R54L|PADI2_ENST00000444885.2_Missense_Mutation_p.R54L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R54L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCCCCATCACGCACCACCTC	0.662000													38	21					1.60099e-16	2.14943e-16	0.021022	1	0
SV2A	9900	broad.mit.edu	37	1	149882451	149882451	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:149882451G>A	ENST00000369146.3	-	4	1372	c.882C>T	c.(880-882)agC>agT	p.S294S	SV2A_ENST00000369145.1_Silent_p.S294S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	294					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S294S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCAGAGCCAGCTCAAATGCT	0.542000													9	55					0	0	0.004482	0	0
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:47193890C>A	ENST00000433867.1	-	14	2253	c.1776G>T	c.(1774-1776)gaG>gaT	p.E592D	PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D|PRKD2_ENST00000291281.4_Missense_Mutation_p.E592D|PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572000													16	83					2.35188e-11	2.97738e-11	0.006122	1	0
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:35804322G>C	ENST00000392213.3	+	11	2005	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.E591Q	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	616					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E616Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACGGAGGAGCTAGCTGA	0.652000													11	45					0	0	0.008291	0	0
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:78422045C>A	ENST00000274353.5	+	6	909	c.802C>A	c.(802-804)Cca>Aca	p.P268T	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.P115T	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P268T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCAGAATTCCCATTTGGTAA	0.433000													7	25					1.06961e-07	1.26251e-07	0.003080	1	0
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:7056721A>C	ENST00000310074.7	+	2	1392	c.1203A>C	c.(1201-1203)ctA>ctC	p.L401L	TADA2B_ENST00000515646.1_Silent_p.L309L|TADA2B_ENST00000512388.1_Silent_p.L326L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.L401L(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAAAGTCCTAAAGAAAAGGA	0.488000													11	32					0	0	0.008291	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743005	5743005	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:5743005A>C	ENST00000414202.2	+	9	1229	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	KIAA1432_ENST00000251879.6_Silent_p.G346G|KIAA1432_ENST00000449720.2_Silent_p.G267G|KIAA1432_ENST00000381532.2_Silent_p.G267G|KIAA1432_ENST00000418622.3_Silent_p.G267G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	346						integral to membrane		p.G267G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CACTTGGAGGAGATTTTGCGT	0.373000													4	16					0	0	0.014758	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:31813004G>A	ENST00000334067.3	+	1	408	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament		p.S120N(2)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTGGGTCCAGCTTCTACCAC	0.473000													18	60					0	0	0.006122	0	0
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:57490421G>C	ENST00000262507.6	+	4	453	c.384G>C	c.(382-384)ctG>ctC	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					ubiquinone biosynthetic process	mitochondrion		p.L128L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTAGTCTCTGGGTCTCTCCA	0.512000													42	55					0	0	0.009718	0	0
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184102332G>C	ENST00000204604.1	+	13	1694	c.1448G>C	c.(1447-1449)gGt>gCt	p.G483A	CHRD_ENST00000348986.3_Missense_Mutation_p.G443A|CHRD_ENST00000545352.1_Missense_Mutation_p.G113A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G483A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607000													189	159					0	0	0.014410	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:13717013G>T	ENST00000279593.3	-	13	3368	c.3159C>A	c.(3157-3159)gaC>gaA	p.D1053E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1053					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1053E(2)|p.D1053D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCAAGTCGTCGTGGCCAC	0.572000													13	19					0.00010058	0.000108809	0.013537	1	0
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:27135155C>A	ENST00000343060.4	-	1	438	c.377G>T	c.(376-378)tGc>tTc	p.C126F	HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGGAGCGCACTGGGGGTA	0.567000													19	81					5.35267e-07	6.16782e-07	0.007413	1	0
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:49458380C>T	ENST00000358791.5	+	4	532	c.432C>T	c.(430-432)gcC>gcT	p.A144A	BCAS4_ENST00000371608.2_Silent_p.A144A|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	144						cytoplasm		p.A144A(6)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACCATGGGGCCTTCCCTCAGG	0.652000													18	36					0	0	0.007413	0	0
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:61028318A>G	ENST00000373867.3	-	9	1153	c.688T>C	c.(688-690)Tac>Cac	p.Y230H	FAM13C_ENST00000435852.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000442566.3_Missense_Mutation_p.Y334H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Y334H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Y230H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	313								p.Y313H(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTACCCGGTATTTCTTTTCT	0.493000													17	26					0	0	0.006122	0	0
SPEF2	79925	broad.mit.edu	37	5	35654779	35654779	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:35654779G>C	ENST00000440995.2	+	7	929	c.929G>C	c.(928-930)aGa>aCa	p.R310T	SPEF2_ENST00000356031.3_Missense_Mutation_p.R310T|SPEF2_ENST00000282469.6_Missense_Mutation_p.R310T|SPEF2_ENST00000509059.1_Missense_Mutation_p.R310T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	310					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R310T(2)		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)			AGGGAGAAAAGACGGCGGAAA	0.388000													6	30					0	0	0.021553	0	0
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:125286264G>C	ENST00000296220.5	-	6	1131	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					lipid transport		lipid binding	p.S281*(2)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTCTGATGTGATGCATGCTG	0.418000													17	69					0	0	0.004990	0	0
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:10288575G>A	ENST00000296658.3	-	3	702	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	94						cytosol	hydrolase activity|protein binding	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GCCACTCAGGGAAGATAGACC	0.507000													16	38					0	0	0.028581	0	0
PLD1	5337	broad.mit.edu	37	3	171395480	171395480	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:171395480G>A	ENST00000342215.6	-	15	1659	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PLD1_ENST00000351298.4_Silent_p.T624T|PLD1_ENST00000356327.5_Silent_p.T586T|PLD1_ENST00000340989.4_Silent_p.T624T			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T624T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATGGACCCGGTATCTGTGA	0.488000													7	60					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:113697836G>C	ENST00000297405.5	-	15	2525	c.2281C>G	c.(2281-2283)Ctt>Gtt	p.L761V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L657V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	20					0	0	0.006214	0	0
UBC	7316	broad.mit.edu	37	12	125397990	125397990	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:125397990C>T	ENST00000536769.1	-	1	1904	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	UBC_ENST00000339647.5_Missense_Mutation_p.E110K|UBC_ENST00000538617.1_Missense_Mutation_p.E110K|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	110	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E110K(1)|p.I106fs*10(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAATGCCTTCCTTGTCCTGG	0.522000													28	209					0	0	0.008361	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:7805972A>G	ENST00000303635.7	+	18	4645	c.4438A>G	c.(4438-4440)Agt>Ggt	p.S1480G	CAMTA1_ENST00000476864.1_Missense_Mutation_p.S44G|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1466G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1480G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCTCCCGTCAGTGAAATCGC	0.478000			T	WWTR1	epitheliod hemangioendothelioma								29	95					0	0	0.009535	0	0
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:113539390T>C	ENST00000263339.3	-	4	265	c.110A>G	c.(109-111)cAt>cGt	p.H37R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	37					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.H37R(2)		breast(2)|large_intestine(1)|lung(9)	12						ATAGCTTACATGATAGAAGGA	0.443000													19	26					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179596652C>A	ENST00000589042.1	-	58	17174	c.16950G>T	c.(16948-16950)aaG>aaT	p.K5650N	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K4406N|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5333N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5333	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4406N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGTACTCCTTTAAGACTT	0.433000													18	57					1.67942e-08	2.01869e-08	0.006122	1	0
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113866313C>A	ENST00000383673.2	-	4	905	c.475G>T	c.(475-477)Gta>Tta	p.V159L	DRD3_ENST00000460779.1_Missense_Mutation_p.V159L|DRD3_ENST00000467632.1_Missense_Mutation_p.V159L|DRD3_ENST00000295881.7_Missense_Mutation_p.V159L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	159					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V159L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGGCCAGTACCCAGACGGCC	0.542000													71	65					2.165e-29	3.06046e-29	0.014410	1	0
PLXND1	23129	broad.mit.edu	37	3	129290610	129290610	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:129290610T>C	ENST00000393239.1	-	16	3333	c.3155A>G	c.(3154-3156)gAg>gGg	p.E1052G	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1052G			Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCGACGCTCGAAGCGCAC	0.662000													5	42					0	0	0.021553	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044535	179044535	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:179044535G>C	ENST00000356731.5	-	8	2572	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	HNRNPH1_ENST00000393432.4_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000442819.2_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000511300.2_Nonsense_Mutation_p.S76*|HNRNPH1_ENST00000329433.6_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000510411.1_Nonsense_Mutation_p.S346*			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	346	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGTCTTTTGACATAGCTGC	0.408000													5	69					0	0	0.021553	0	0
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:111147283C>G	ENST00000485317.1	-	3	795	c.122G>C	c.(121-123)gGg>gCg	p.G41A	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G41A|KCNA2_ENST00000316361.4_Missense_Mutation_p.G41A|KCNA2_ENST00000369770.3_Missense_Mutation_p.G41A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	41						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G41A(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAACCGCAGCCCTGAGATGTT	0.572000													49	161					0	0	0.014410	0	0
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:129996686G>A	ENST00000263574.5	+	8	1254	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	APLP2_ENST00000543137.1_Silent_p.K301K|APLP2_ENST00000539648.1_Silent_p.K182K|APLP2_ENST00000345598.5_Silent_p.K165K|APLP2_ENST00000338167.5_Silent_p.K394K|APLP2_ENST00000528499.1_Silent_p.K338K|APLP2_ENST00000278756.7_Silent_p.K404K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.K394K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGAAGGCTAAGGAGCAGCTGG	0.468000													52	105					0	0	0.014410	0	0
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:3822343C>G	ENST00000497571.1	-	3	1015	c.755G>C	c.(754-756)cGa>cCa	p.R252P	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation	nucleus	zinc ion binding	p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGTGTGCTTTCGGAAGTGCCT	0.542000													7	23					0	0	0.001984	0	0
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:142143645G>T	ENST00000262990.4	+	2	348	c.120_splice	c.e2+1	p.M40_splice	ZNF330_ENST00000421169.2_Splice_Site_p.W4_splice	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.M40I(2)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATGCCTCAATGGTATCAGCTT	0.363000													7	14					1.12685e-05	1.2575e-05	0.004482	1	0
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50945490C>A	ENST00000357701.5	+	9	873	c.822C>A	c.(820-822)atC>atA	p.I274I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I274I(2)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAACAAGATCAAGTTGATGG	0.522000													5	7					4.096e-09	4.99689e-09	0.021553	1	0
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:99308411G>T	ENST00000336374.2	-	10	972	c.970C>A	c.(970-972)Cac>Aac	p.H324N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACATCAGGGTGAGTGGCCAGT	0.448000													16	14					1.3612e-06	1.5521e-06	0.024245	1	0
ZEB2	9839	broad.mit.edu	37	2	145156847	145156847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:145156847A>T	ENST00000558170.2	-	8	3091	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.L636*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.L612*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.L636*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	636						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L636*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACAGATGACAAGAGGAGGGC	0.443000													5	55					0	0	0.021553	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport|sodium ion transport	integral to membrane		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677000													15	30					0	0	0.020292	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:220097894G>C	ENST00000323348.5	+	6	826	c.652G>C	c.(652-654)Gct>Cct	p.A218P	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A218P|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A8P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	218						intracellular	zinc ion binding	p.A218P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTTTGCTGGTGCTAT	0.557000													85	205					0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38770045	38770045	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:38770045T>C	ENST00000449082.2	-	15	2627	c.2628A>G	c.(2626-2628)ctA>ctG	p.L876L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	876					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGGTTCCCTAGCACCATCA	0.502000													4	36					0	0	0.009096	0	0
MARK1	4139	broad.mit.edu	37	1	220825366	220825366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:220825366G>C	ENST00000402574.1	+	15	2207	c.1205G>C	c.(1204-1206)gGc>gCc	p.G402A	MARK1_ENST00000366917.4_Missense_Mutation_p.G537A|MARK1_ENST00000366918.4_Missense_Mutation_p.G515A	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	537					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G537A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTCTGCAGGCTCTTCTGTG	0.463000													12	74					0	0	0.013537	0	0
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:108714382T>A	ENST00000361189.2	-	4	1045	c.806A>T	c.(805-807)cAa>cTa	p.Q269L	PJA2_ENST00000361557.3_Missense_Mutation_p.Q269L	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	269					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.Q269L(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTATTTTGTTGTTTCGTACT	0.403000													12	41					0	0	0.010729	0	0
PABPC3	5042	broad.mit.edu	37	13	25671037	25671037	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:25671037G>T	ENST00000281589.3	+	1	738	c.701G>T	c.(700-702)gGa>gTa	p.G234V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	234	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.G234V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGGATTTGGATTTGTAAGC	0.433000													13	62					0.0167234	0.0171424	0.016723	1	0
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	G	A	rs148297848	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:41010795G>A	ENST00000373161.1	+	2	316	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TSPO2_ENST00000470917.1_Missense_Mutation_p.R24H|TSPO2_ENST00000373158.2_Missense_Mutation_p.R24H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	24					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.R24H(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTTCACTCGTGATCACATG	0.552000													60	70					0	0	0.014410	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647906	56647906	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:56647906T>A	ENST00000267116.7	-	8	972	c.851A>T	c.(850-852)aAt>aTt	p.N284I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	284							protein binding	p.N284I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GAGAGCGCCATTGGTGGAGAC	0.552000													14	74					0	0	0.020292	0	0
NBEA	26960	broad.mit.edu	37	13	36241513	36241513	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:36241513G>T	ENST00000540320.1	+	56	8938	c.8404G>T	c.(8404-8406)Ggc>Tgc	p.G2802C	NBEA_ENST00000537702.1_Missense_Mutation_p.G595C|NBEA_ENST00000379922.3_Missense_Mutation_p.G380C|NBEA_ENST00000379939.2_Missense_Mutation_p.G2799C|NBEA_ENST00000400445.3_Missense_Mutation_p.G2802C|NBEA_ENST00000310336.4_Missense_Mutation_p.G2802C			Q8NFP9	NBEA_HUMAN	neurobeachin	2802						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.G2802C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTGCAGAGGGCCCTTGCCT	0.532000													7	51					1.06961e-07	1.26251e-07	0.003080	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54912725	54912725	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:54912725C>T	ENST00000293373.6	+	15	1527	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S433L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	483					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.S483L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTGAATTCTCAGGATTGAGG	0.388000													7	38					0	0	0.004482	0	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:4674254C>G	ENST00000396952.5	+	2	1148	c.498C>G	c.(496-498)atC>atG	p.I166M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTCATCAAGCAGCTGC	0.552000													25	99					0	0	0.021523	0	0
PATZ1	23598	broad.mit.edu	37	22	31722972	31722972	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:31722972C>G	ENST00000266269.5	-	5	2598	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.E611Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	657					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E657Q(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAAAGGACTCGAGGAGAGAC	0.582000													9	87					0	0	0.006214	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:61305166G>A	ENST00000341074.5	-	8	1075	c.960C>T	c.(958-960)agC>agT	p.S320S	SERPINB4_ENST00000356424.6_Silent_p.S268S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S320S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGACCGTGGCTCCAGGTCA	0.507000													9	26					0	0	0.004482	0	0
NES	10763	broad.mit.edu	37	1	156641485	156641485	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156641485G>A	ENST00000368223.3	-	4	2627	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	832	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTTGTCCCGCAGACTTCAG	0.413000													4	124					0	0	0.009096	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357156	37357156	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:37357156G>T	ENST00000217420.1	+	2	1715	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	484					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.K484N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCTGGCGCAAGCTGCTGTGGC	0.652000													25	42					4.72057e-08	5.61748e-08	0.021523	1	0
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27800886G>C	ENST00000408964.2	+	1	1498	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	483								p.D483H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACTAGATCAAGTCAC	0.423000													7	40					0	0	0.001984	0	0
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:34263448C>G	ENST00000607016.1	-	3	536	c.225G>C	c.(223-225)ggG>ggC	p.G75G	RP1-187N21.4_ENST00000605528.1_Silent_p.G194G	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3									p.G75G(2)		lung(2)	2						TTCCCAATGTCCCTTTTACTC	0.308000													8	27					0	0	0.004482	0	0
NEK9	91754	broad.mit.edu	37	14	75563845	75563845	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:75563845G>A	ENST00000238616.5	-	17	2289	c.2131C>T	c.(2131-2133)Ccg>Tcg	p.P711S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	711					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.P711S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GACAGGTCCGGGACATGATGC	0.522000													10	72					0	0	0.006214	0	0
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:228497784C>A	ENST00000409066.1	-	1	252	c.18G>T	c.(16-18)ctG>ctT	p.L6L	C2orf83_ENST00000264387.4_Silent_p.L6L	NM_001162483.1	NP_001155955.1	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	6						membrane	folic acid binding|reduced folate carrier activity	p.L6L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTCCAAACGTCAGGGCATAGT	0.428000													12	17					0.000151284	0.000163123	0.016723	1	0
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:101671405C>T	ENST00000360264.3	+	3	222	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CUX1_ENST00000393824.3_Silent_p.L31L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.L57L|CUX1_ENST00000546411.2_Silent_p.L57L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.L68L|CUX1_ENST00000437600.4_Silent_p.L68L|CUX1_ENST00000550008.2_Silent_p.L57L|CUX1_ENST00000292535.7_Silent_p.L57L|CUX1_ENST00000549414.2_Silent_p.L57L|CUX1_ENST00000292538.4_Silent_p.L68L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	57					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L57L(2)|p.L68L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGCCGCTGCTGAAGAGTTT	0.473000													9	27					0	0	0.008291	0	0
OR6K3	391114	broad.mit.edu	37	1	158687653	158687653	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:158687653G>T	ENST00000368146.1	-	1	300	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L85I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L101I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCACTGATGAGGTTGGAGAGC	0.453000													16	141					1.3612e-06	1.5521e-06	0.024245	1	0
CUL5	8065	broad.mit.edu	37	11	107965125	107965125	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:107965125G>A	ENST00000393094.2	+	14	2067	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	484					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.G484D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TAGGAAGTTGGTATGCCAGCG	0.289000													4	25					0	0	0.014758	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:77620118C>A	ENST00000521891.2	+	3	3376	c.2928C>A	c.(2926-2928)caC>caA	p.H976Q	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H950Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H950Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H950Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	950						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H976Q(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGTGGCTCACATTAAAGAAG	0.443000										HNSCC(33;0.089)			20	37					8.10497e-08	9.59259e-08	0.010504	1	0
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:145537167G>A	ENST00000394434.2	-	10	1030	c.864C>T	c.(862-864)ttC>ttT	p.F288F	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Silent_p.F261F|LARS_ENST00000510191.1_Silent_p.F234F|LARS_ENST00000545646.1_Silent_p.F242F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	288	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378000													5	19					0	0	0.014758	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071151	150071151	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:150071151G>C	ENST00000409642.3	+	7	952	c.551G>C	c.(550-552)aGa>aCa	p.R184T	LYPD6B_ENST00000409876.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.R184T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	160						anchored to membrane|plasma membrane		p.R184T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACGCTCAGAGAACATCTGGC	0.498000													21	169					0	0	0.010504	0	0
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:29609316G>T	ENST00000356870.3	+	12	2107	c.1997G>T	c.(1996-1998)gGg>gTg	p.G666V	PTPRU_ENST00000460170.2_Missense_Mutation_p.G666V|PTPRU_ENST00000345512.3_Missense_Mutation_p.G666V|PTPRU_ENST00000323874.8_Missense_Mutation_p.G666V|PTPRU_ENST00000428026.2_Missense_Mutation_p.G666V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.G666V	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G666V(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACTACTTCGGGGCCGAACTG	0.667000													46	62					3.77016e-25	5.25015e-25	0.013114	1	0
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:115769466A>T	ENST00000264363.2	-	9	2523	c.1845T>A	c.(1843-1845)ctT>ctA	p.L615L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	615	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L615L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGCATAAGAAGAAATA	0.318000													8	14					0	0	0.003080	0	0
POLR2D	5433	broad.mit.edu	37	2	128610524	128610524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128610524T>A	ENST00000272645.4	-	2	285	c.229A>T	c.(229-231)Aga>Tga	p.R77*	POLR2D_ENST00000409955.1_Nonsense_Mutation_p.R77*|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Nonsense_Mutation_p.R39*	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	77					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.R77*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		ATGGTCTCTCTGTTTTTGAAA	0.438000													20	125					0	0	0.010504	0	0
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:89890150G>C	ENST00000435811.1	-	8	1410	c.956C>G	c.(955-957)cCg>cGg	p.P319R	GABRR1_ENST00000454853.2_Missense_Mutation_p.P336R|GABRR1_ENST00000369451.3_Missense_Mutation_p.P249R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	336					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P330R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGACGCGCGGCATGGAGGC	0.532000													26	38					0	0	0.009535	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:155571195C>G	ENST00000392845.2	-	1	972	c.592G>C	c.(592-594)Gat>Cat	p.D198H	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D198H	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	198					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.D198H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCCAACCATCGACGGCAATG	0.473000													10	40					0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:168106754G>T	ENST00000409195.1	+	9	8941	c.8852G>T	c.(8851-8853)cGt>cTt	p.R2951L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2951L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2729L|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2776					actin cytoskeleton organization	cell junction	actin binding	p.R2951L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAGAAAACGTGAAGAACTG	0.373000													45	40					2.68985e-26	3.75775e-26	0.014410	1	0
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:92714702G>C	ENST00000257068.2	+	2	319	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	105					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.G105R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCTATGACGGCTGGGCCCT	0.572000													64	166					0	0	0.014410	0	0
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:7001425G>C	ENST00000256722.5	-	3	881	c.882C>G	c.(880-882)atC>atG	p.I294M	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Missense_Mutation_p.I294M|CMPK2_ENST00000404168.1_Missense_Mutation_p.I294M	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	294					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.I294M(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCATCAAAGATCTTCCTCC	0.448000													7	28					0	0	0.001984	0	0
TRIM23	373	broad.mit.edu	37	5	64910024	64910024	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:64910024C>T	ENST00000231524.9	-	3	638	c.267G>A	c.(265-267)ttG>ttA	p.L89L	TRIM23_ENST00000274327.7_Silent_p.L89L|TRIM23_ENST00000381018.3_Silent_p.L89L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	89					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTTTTTTTCAATCCCCAGA	0.353000													4	45					0	0	0.014758	0	0
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78574751C>A	ENST00000397909.2	+	30	5791	c.5618C>A	c.(5617-5619)aCc>aAc	p.T1873N	NAV3_ENST00000228327.6_Missense_Mutation_p.T1851N|NAV3_ENST00000536525.2_Missense_Mutation_p.T1851N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1674N|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1851N(2)		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						TCAAGCAGCACCTCCTCTTCA	0.448000										HNSCC(70;0.22)			6	18					0.00116845	0.00123049	0.021553	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748388	19748388	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:19748388C>G	ENST00000222567.5	-	1	322	c.252G>C	c.(250-252)gaG>gaC	p.E84D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	84						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E84D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATCGGTACCTCTCAGAATAGC	0.562000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	0.004482	0	0
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:55993190C>T	ENST00000391718.2	+	3	1183	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ZNF628_ENST00000598519.1_Silent_p.P210P			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	206						nucleus	DNA binding|zinc ion binding	p.P206P(4)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGCTCTGCCCCAAGACCTTCA	0.741000													4	7					0	0	0.009096	0	0
VDAC3	7419	broad.mit.edu	37	8	42259420	42259420	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:42259420C>T	ENST00000392935.3	+	7	584	c.441C>T	c.(439-441)ttC>ttT	p.F147F	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F147F|VDAC3_ENST00000022615.4_Silent_p.F146F	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	146					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.F146F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGTTGGCCTTCGAAGGGTGGC	0.463000													13	86					0	0	0.020292	0	0
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152733553A>T	ENST00000368773.1	+	2	1547	c.1489A>T	c.(1489-1491)Agc>Tgc	p.S497C	KPRP_ENST00000606109.1_Missense_Mutation_p.S497C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm		p.S497C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGGCGCAGCCCCAGCCC	0.647000													79	58					0	0	0.014410	0	0
NMT2	9397	broad.mit.edu	37	10	15210517	15210517	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:15210517G>C	ENST00000378165.4	-	1	175	c.95C>G	c.(94-96)aCg>aGg	p.T32R	NMT2_ENST00000378150.1_Missense_Mutation_p.R5G	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	32					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.T32R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGCGTGCTCCGTCTCCTCCTC	0.726000													9	63					0	0	0.008291	0	0
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:2832300G>A	ENST00000317243.5	+	4	451		c.e4-1		ZNF554_ENST00000591265.1_Splice_Site	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTTTTCAGAAGCCTTGAA	0.423000													39	25					0	0	0.023175	0	0
TTN	7273	broad.mit.edu	37	2	179451993	179451993	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179451993G>T	ENST00000589042.1	-	307	64169	c.63945C>A	c.(63943-63945)acC>acA	p.T21315T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T12250T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T18747T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T12375T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T19674T|TTN_ENST00000342175.6_Silent_p.T12442T|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19674	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18747T(1)|p.T12250T(1)|p.T18745T(1)|p.T12442T(1)|p.T12375T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGGTAACGGTCGACCATG	0.488000													12	63					0.000978159	0.00103509	0.010729	1	0
DIAPH2	1730	broad.mit.edu	37	X	96220166	96220166	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:96220166C>T	ENST00000324765.8	+	17	2357	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	DIAPH2_ENST00000373054.4_Silent_p.L666L|DIAPH2_ENST00000355827.4_Silent_p.L670L|DIAPH2_ENST00000373061.3_Silent_p.L670L|DIAPH2_ENST00000373049.4_Silent_p.L670L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	670	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.L670L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATCCAGATCTCTTTGCCAAAT	0.303000													3	6					0	0	0.009096	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100802561	100802561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:100802561C>G	ENST00000268070.4	-	5	974	c.869G>C	c.(868-870)cGt>cCt	p.R290P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	290	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R290P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTTACGGGACGTTGTCGTAG	0.473000													16	95					0	0	0.028581	0	0
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:98242849C>G	ENST00000430669.2	-	6	1155	c.570G>C	c.(568-570)tgG>tgC	p.W190C	PTCH1_ENST00000429896.2_Missense_Mutation_p.W105C|PTCH1_ENST00000375274.2_Missense_Mutation_p.W255C|PTCH1_ENST00000421141.1_Missense_Mutation_p.W105C|PTCH1_ENST00000418258.1_Missense_Mutation_p.W105C|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000437951.1_Missense_Mutation_p.W190C|PTCH1_ENST00000331920.6_Missense_Mutation_p.W256C			Q13635	PTC1_HUMAN	patched 1	256					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W256C(4)|p.W255C(4)|p.W256*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGAAGTTTGTCCACCGCAAAG	0.458000													12	34					0	0	0.010729	0	0
DAGLA	747	broad.mit.edu	37	11	61493493	61493493	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61493493C>G	ENST00000257215.5	+	6	691	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	192					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCAAGCCACCAGCTGGTCG	0.607000													5	147					0	0	0.001984	0	0
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:73567113G>T	ENST00000392550.3	+	17	2225	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	LLGL2_ENST00000577200.1_Missense_Mutation_p.R703L|LLGL2_ENST00000167462.5_Missense_Mutation_p.R703L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	703					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.R703L(4)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATCGAGGCTCGCTCGGCAGAG	0.657000													56	79					2.5401e-28	3.57525e-28	0.014410	1	0
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:141302217A>G	ENST00000394203.3	+	4	506	c.328A>G	c.(328-330)Agt>Ggt	p.S110G	SCOC_ENST00000512749.1_Missense_Mutation_p.S70G|SCOC_ENST00000502535.1_Missense_Mutation_p.S70G|SCOC_ENST00000506597.1_Missense_Mutation_p.S119G|SCOC_ENST00000394201.3_Missense_Mutation_p.S147G|SCOC_ENST00000506322.1_Missense_Mutation_p.S70G|SCOC_ENST00000394205.3_Missense_Mutation_p.S110G|SCOC_ENST00000338517.4_Missense_Mutation_p.S110G	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	147						Golgi apparatus|nucleus	protein binding	p.S147G(2)|p.S110G(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTCAGCTTCTAGTGTTTTTCA	0.338000													6	9					0	0	0.021553	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:35541202C>A	ENST00000287272.2	+	5	728	c.708C>A	c.(706-708)atC>atA	p.I236I	UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000404895.2_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000416672.1_Silent_p.I236I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000													9	11					0.000274275	0.000294284	0.004482	1	0
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:119170450G>T	ENST00000264033.4	+	16	3056	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	894	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E894*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATCCTCCGGGAATTTGTTTC	0.488000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				119	180					5.55186e-77	7.9425e-77	0.014410	1	0
OIT3	170392	broad.mit.edu	37	10	74660219	74660219	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:74660219G>T	ENST00000334011.5	+	3	739	c.521G>T	c.(520-522)gGc>gTc	p.G174V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	174						nuclear envelope	calcium ion binding	p.G174V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACTGTGCTAGGCCCTGACAGG	0.473000													4	25					1.23904e-05	1.37917e-05	0.014758	1	0
POT1	25913	broad.mit.edu	37	7	124499043	124499043	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:124499043C>G	ENST00000357628.3	-	9	1268	c.670G>C	c.(670-672)Gat>Cat	p.D224H	POT1_ENST00000393329.1_Missense_Mutation_p.D93H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	224					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.D224H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACATGGTTATCGTAGACTAAA	0.318000													4	16					0	0	0.006214	0	0
ZNF607	84775	broad.mit.edu	37	19	38190715	38190715	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:38190715C>T	ENST00000355202.4	-	5	912	c.317G>A	c.(316-318)aGa>aAa	p.R106K	ZNF607_ENST00000395835.3_Missense_Mutation_p.R105K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R106K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R106K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTATGAATTCTCTGATGGAG	0.348000													10	42					0	0	0.006214	0	0
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:5373536C>T	ENST00000380219.1	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P267S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCATGTTCCTCATGTCGT	0.408000													13	42					0	0	0.016723	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128066163G>C	ENST00000409947.1	-	16	1914	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	MAP3K2_ENST00000344908.5_Missense_Mutation_p.I544M			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	544	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.I544M(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		AAACCTACCAGATGTCTGCTT	0.453000													36	192					0	0	0.023175	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:48578088G>A	ENST00000354276.3	-	12	1269	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PLA2G4C_ENST00000599111.1_Silent_p.L324L|PLA2G4C_ENST00000599921.1_Silent_p.L314L|PLA2G4C_ENST00000413144.2_Silent_p.L314L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	314	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.L314L(3)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATTCTCGAGCATCTCAG	0.512000													32	148					0	0	0.010818	0	0
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:8982214G>T	ENST00000397910.4	-	70	42264	c.42061C>A	c.(42061-42063)Cat>Aat	p.H14021N	MUC16_ENST00000380951.5_Missense_Mutation_p.H662N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14046	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H14021N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCATGGGTCTGCTGG	0.632000													13	26					1.5842e-08	1.91126e-08	0.016723	1	0
RAPH1	65059	broad.mit.edu	37	2	204322288	204322288	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:204322288C>G	ENST00000319170.5	-	8	1422	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	RAPH1_ENST00000457812.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.E402Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.E427Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.E400Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.E402Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.E427Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.E400Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.E427Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	375					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGCCATCTCAGCTGTTTCT	0.383000													8	148					0	0	0.006214	0	0
SLC30A9	10463	broad.mit.edu	37	4	42024921	42024921	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:42024921A>G	ENST00000264451.6	+	5	681	c.501A>G	c.(499-501)gtA>gtG	p.V167V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	167					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.V167V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTTTACTGTATACTTGAGAT	0.323000													3	20					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:7578550G>C	ENST00000420246.2	-	5	512	c.380C>G	c.(379-381)tCc>tGc	p.S127C	TP53_ENST00000359597.4_Missense_Mutation_p.S127C|TP53_ENST00000455263.2_Missense_Mutation_p.S127C|TP53_ENST00000269305.4_Missense_Mutation_p.S127C|TP53_ENST00000445888.2_Missense_Mutation_p.S127C|TP53_ENST00000413465.2_Missense_Mutation_p.S127C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	14					0	0	0.006122	0	0
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:144124453C>A	ENST00000395172.1	+	2	387	c.35C>A	c.(34-36)tCa>tAa	p.S12*	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	12								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCTGCAATTCAGTGAGGCAG	0.607000													21	62					4.96729e-08	5.90571e-08	0.008871	1	0
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:172659655C>A	ENST00000329198.4	-	2	1165	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	298					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.G298W(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCAAGTCCCCGACGCCGAAG	0.667000													9	36					0.000442599	0.000472563	0.006214	1	0
IFT172	26160	broad.mit.edu	37	2	27706212	27706212	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:27706212C>T	ENST00000260570.3	-	7	617	c.514G>A	c.(514-516)Gca>Aca	p.A172T	IFT172_ENST00000416524.2_Missense_Mutation_p.A151T|IFT172_ENST00000359466.6_Missense_Mutation_p.A172T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	172					cilium assembly	cilium	binding	p.A172T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTACCATCTGCATGACCAGAG	0.423000													7	56					0	0	0.004482	0	0
BRINP3	339479	broad.mit.edu	37	1	190067152	190067152	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:190067152C>A	ENST00000367462.3	-	8	2528	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S664I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		766						extracellular region		p.S766I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATGGTTAACTACATAATTT	0.373000													9	87					0.000442599	0.000472563	0.006214	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:65676637G>T	ENST00000352385.2	-	20	3672	c.3463C>A	c.(3463-3465)Cct>Act	p.P1155T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1155						integral to membrane|plasma membrane		p.P1155T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCCTCAGGCTCCAGGTCT	0.612000													19	56					8.28177e-16	1.10508e-15	0.007413	1	0
CYP24A1	1591	broad.mit.edu	37	20	52774070	52774070	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:52774070C>T	ENST00000216862.3	-	10	1684	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D289N	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	431					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.D431N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGACTTGAATCTTCAAAATTG	0.393000													13	84					0	0	0.016723	0	0
FADS6	283985	broad.mit.edu	37	17	72875562	72875562	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:72875562G>A	ENST00000310226.6	-	5	892	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	299					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.P298L(1)|p.P293L(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAGAGCCTGGGGAATAGATG	0.582000													9	51					0	0	0.008291	0	0
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79616095C>G	ENST00000296739.4	+	1	306	c.61C>G	c.(61-63)Cct>Gct	p.P21A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P21A(2)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAACCCTACTCCTGATCCTCA	0.473000													30	121					0	0	0.009535	0	0
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:106848433A>G	ENST00000228347.4	+	20	2459	c.2237A>G	c.(2236-2238)tAt>tGt	p.Y746C	POLR3B_ENST00000539066.1_Missense_Mutation_p.Y688C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	746					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.Y746C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGATGAGCTATAGTGGCTAT	0.373000													7	17					0	0	0.003080	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:32217561G>A	ENST00000400246.1	+	23	2086	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Silent_p.Q648Q|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382112.3_Silent_p.Q648Q|DEPDC5_ENST00000400249.2_Silent_p.Q648Q|DEPDC5_ENST00000400248.1_Silent_p.Q648Q|DEPDC5_ENST00000382111.2_Silent_p.Q648Q			O75140	DEPD5_HUMAN	DEP domain containing 5	648					intracellular signal transduction			p.Q648Q(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAGCGGGCAGAGGGATCCAA	0.552000													53	110					0	0	0.014410	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870201	36870201	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:36870201G>T	ENST00000279024.4	-	3	603	c.332C>A	c.(331-333)cCc>cAc	p.P111H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCCTCCTGGGGCTCCACTTG	0.562000													19	102					2.94398e-08	3.51934e-08	0.007413	1	0
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:157820536G>T	ENST00000490689.2	-	2	1632	c.99C>A	c.(97-99)acC>acA	p.T33T	SHOX2_ENST00000389589.4_Silent_p.T186T|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Silent_p.T162T|SHOX2_ENST00000441443.2_Silent_p.T33T|SHOX2_ENST00000425436.3_Silent_p.T162T			O60902	SHOX2_HUMAN	short stature homeobox 2	162					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T33T(2)|p.T186T(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGGATAGTGGGTCTCGTCAA	0.597000													77	69					8.70598e-44	1.24006e-43	0.014410	1	0
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:26553192C>G	ENST00000381340.3	-	53	7816		c.e53-1		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTTCATCAGCTATAAAAACA	0.313000													8	23					0	0	0.003080	0	0
CCR2	729230	broad.mit.edu	37	3	46401302	46401302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:46401302C>A	ENST00000292301.4	+	3	1561	c.1076C>A	c.(1075-1077)tCa>tAa	p.S359*	CCR2_ENST00000400888.2_Nonsense_Mutation_p.S359*	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	359					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.S359*(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAAGGAAAGTCAATTGGCAGA	0.493000													6	49					0.0215528	0.0220239	0.021553	1	0
LY6K	54742	broad.mit.edu	37	8	143784660	143784660	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:143784660A>G	ENST00000292430.6	+	3	786	c.369A>G	c.(367-369)ttA>ttG	p.L123L	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Silent_p.L181L|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	123	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.L181L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTGCAATTTAGAGGGGCCAC	0.532000													11	74					0	0	0.008291	0	0
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:215279129A>G	ENST00000312504.5	+	2	1014	c.212A>G	c.(211-213)cAt>cGt	p.H71R	VWC2L_ENST00000427124.1_Missense_Mutation_p.H71R|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	71	VWFC 1.					extracellular region		p.H71R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCCCTGGGCATTCCAACTGT	0.453000													6	8					0	0	0.021553	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:140995104C>A	ENST00000285879.4	+	4	2200	c.1914C>A	c.(1912-1914)tcC>tcA	p.S638S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638							protein binding	p.S638S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATCCAGTCTTCCCC	0.567000										HNSCC(15;0.026)			69	167					1.84395e-34	2.61793e-34	0.014410	1	0
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:100934574G>A	ENST00000548884.1	+	9	1585	c.1044G>A	c.(1042-1044)ttG>ttA	p.L348L	NR1H4_ENST00000549996.1_Silent_p.L301L|NR1H4_ENST00000551379.1_Silent_p.L362L|NR1H4_ENST00000392986.3_Silent_p.L352L|NR1H4_ENST00000188403.7_Silent_p.L358L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.L362L(2)|p.L348L(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTGACCTATTGGAAGAAAGAA	0.423000													14	33					0	0	0.016723	0	0
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:53103731G>T	ENST00000408890.4	+	1	383	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123								p.G123W(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATGAAAGGGGGGCTGTGTCG	0.701000													12	42					7.93312e-07	9.08526e-07	0.020292	1	0
RBM47	54502	broad.mit.edu	37	4	40440598	40440598	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:40440598C>G	ENST00000319592.4	-	4	1022	c.313G>C	c.(313-315)Gac>Cac	p.D105H	RBM47_ENST00000514014.1_Missense_Mutation_p.D67H|RBM47_ENST00000295971.7_Missense_Mutation_p.D105H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.D105H|RBM47_ENST00000381793.2_Missense_Mutation_p.D105H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	105	RRM 1.					nucleus	nucleotide binding|RNA binding	p.D105H(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGTCAAAGTCCATCATGAGG	0.632000													12	61					0	0	0.020292	0	0
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:28578214G>T	ENST00000380982.4	-	24	3047	c.2966C>A	c.(2965-2967)cCg>cAg	p.P989Q	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.P986Q|FLT3_ENST00000537084.1_Missense_Mutation_p.P945Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	986					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P986Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGCGGAGAGAGTAG	0.463000			"""Mis, O"""		"""AML, ALL"""								17	26					1.15088e-07	1.35112e-07	0.028581	1	0
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:110551679G>A	ENST00000369799.5	+	2	511	c.144G>A	c.(142-144)atG>atA	p.M48I	AHCYL1_ENST00000359172.3_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Start_Codon_SNP_p.M1I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	48					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.M48I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGATGACATGCAGGAGTTCA	0.393000													8	28					0	0	0.003080	0	0
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:17893966C>A	ENST00000594202.1	+	24	2357	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	FCHO1_ENST00000539407.1_Missense_Mutation_p.A693D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700D|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693D|FCHO1_ENST00000596536.1_Missense_Mutation_p.A693D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	693								p.A693D(2)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCCCAACGCCGATCTGCTG	0.617000													23	29					7.88262e-20	1.07595e-19	0.018920	1	0
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	C	G	rs140307739		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:1508329C>G	ENST00000381401.5	-	2	1117	c.403G>C	c.(403-405)Gat>Cat	p.D135H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	135					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.D135H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTGGCGAAATCCAGCGGGTAC	0.657000													29	125					0	0	0.009535	0	0
PDE6A	5145	broad.mit.edu	37	5	149274852	149274852	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:149274852G>T	ENST00000255266.5	-	13	1741	c.1620_splice	c.e13-1	p.A541_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	541					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCGCACCAGGGCCTGTGAACA	0.542000													7	33					0.00198382	0.00207745	0.001984	1	0
ANGPT1	284	broad.mit.edu	37	8	108315484	108315484	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:108315484A>G	ENST00000520734.1	-	4	605	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ANGPT1_ENST00000520052.1_Missense_Mutation_p.M106T|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	307					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.M307T(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGGTTCTGGCATATTATTAAT	0.348000													3	24					0	0	0.004672	0	0
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:1271377G>A	ENST00000447027.1	+	31	13334	c.13276G>A	c.(13276-13278)Gag>Aag	p.E4426K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E4423K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.E4423K(2)|p.E4378K(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCCTCACAGAGCTGACCAC	0.647000													26	105					0	0	0.007291	0	0
TAPBP	6892	broad.mit.edu	37	6	33272866	33272866	+	Silent	SNP	G	G	A	rs145473025		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:33272866G>A	ENST00000434618.2	-	4	1113	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TAPBP_ENST00000426633.2_Silent_p.F256F|TAPBP_ENST00000489157.1_Silent_p.F169F|TAPBP_ENST00000475304.1_Silent_p.F274F|TAPBP_ENST00000456592.2_Silent_p.F256F	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	256					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	p.F256F(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGCAGCCAGAAGGTCCCAT	0.582000													20	109					0	0	0.014323	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:90161618C>T	ENST00000567960.1	+	0	354				TUBB8P7_ENST00000564451.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	35					0	0	0.014758	0	0
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:128843023T>A	ENST00000296468.3	-	11	1221	c.1094A>T	c.(1093-1095)cAg>cTg	p.Q365L	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACCTTCCCACTGTATTTTGGG	0.368000													8	12					0	0	0.004482	0	0
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512000													9	33					0	0	0.004482	0	0
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:143181690G>A	ENST00000513000.1	-	12	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	INPP4B_ENST00000508116.1_Missense_Mutation_p.P215S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215S|INPP4B_ENST00000308502.4_Missense_Mutation_p.P215S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279000													8	12					0	0	0.003080	0	0
RASA3	22821	broad.mit.edu	37	13	114773076	114773076	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:114773076C>G	ENST00000334062.7	-	18	1796	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	RASA3_ENST00000389544.4_Missense_Mutation_p.D527H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	559					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GAAATCAGATCCAAGAACTAA	0.552000													8	46					0	0	0.004482	0	0
OSBPL6	114880	broad.mit.edu	37	2	179209051	179209051	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179209051G>A	ENST00000392505.2	+	12	1570	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000190611.4_Intron|OSBPL6_ENST00000315022.2_Silent_p.R321R	NM_001201480.1	NP_001188409.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	329					lipid transport		lipid binding	p.R342R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCACAACTCGGCGCCGGCAGA	0.542000													29	47					0	0	0.006320	0	0
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:52869406C>T	ENST00000343457.3	-	2	655	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217						integral to membrane		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTGAGGTCCTTGAAGGCT	0.343000													16	17					0	0	0.024245	0	0
BRINP3	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:190068179G>T	ENST00000367462.3	-	8	1501	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.H322N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		424						extracellular region		p.H424N(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGCACGAGTGCGTCTCTTCT	0.552000													11	25					4.68919e-08	5.58521e-08	0.008291	1	0
ICA1L	130026	broad.mit.edu	37	2	203653590	203653590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:203653590G>A	ENST00000392237.2	-	12	1363	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	ICA1L_ENST00000358299.2_Silent_p.L402L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	402								p.L402L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAGGTCAAAGAGTTGTGAAG	0.483000													8	36					0	0	0.004482	0	0
OR13G1	441933	broad.mit.edu	37	1	247835786	247835786	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:247835786A>G	ENST00000359688.2	-	1	579	c.558T>C	c.(556-558)tgT>tgC	p.C186C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C186C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTACAGGGCTACAGGACAAAG	0.463000													6	48					0	0	0.001984	0	0
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:72123457C>A	ENST00000340726.3	-	17	2271	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	EYA1_ENST00000419131.1_Missense_Mutation_p.R509S|EYA1_ENST00000388742.4_Missense_Mutation_p.R544S|EYA1_ENST00000388741.2_Missense_Mutation_p.R510S|EYA1_ENST00000303824.7_Missense_Mutation_p.R538S|EYA1_ENST00000388743.2_Missense_Mutation_p.R543S|EYA1_ENST00000388740.3_Missense_Mutation_p.R511S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	544					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R544S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358000													18	31					9.7654e-05	0.000105906	0.007413	1	0
CTDP1	9150	broad.mit.edu	37	18	77473099	77473099	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:77473099G>T	ENST00000299543.7	+	7	1138	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S	CTDP1_ENST00000075430.7_Missense_Mutation_p.A331S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	331	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGATATGAATGCGCCCCCTGG	0.443000													4	17					0.00024832	0.000266873	0.009096	1	0
MEF2D	4209	broad.mit.edu	37	1	156437954	156437954	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156437954G>A	ENST00000348159.4	-	11	1865	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.A416V|MEF2D_ENST00000340875.5_Missense_Mutation_p.A461V|MEF2D_ENST00000360595.3_Missense_Mutation_p.A455V|MEF2D_ENST00000368240.2_Missense_Mutation_p.A455V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	462					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A462V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGGGCGGGCAGCTGGGAA	0.682000													13	102					0	0	0.013537	0	0
NRP2	8828	broad.mit.edu	37	2	206607987	206607987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:206607987C>T	ENST00000360409.3	+	9	2143	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NRP2_ENST00000540178.1_Missense_Mutation_p.S451F|NRP2_ENST00000355117.4_Missense_Mutation_p.S451F|NRP2_ENST00000412873.2_Missense_Mutation_p.S451F|NRP2_ENST00000357118.4_Missense_Mutation_p.S451F|NRP2_ENST00000357785.5_Missense_Mutation_p.S451F|NRP2_ENST00000272849.3_Missense_Mutation_p.S451F|NRP2_ENST00000417189.1_Missense_Mutation_p.S451F|NRP2_ENST00000540841.1_Missense_Mutation_p.S451F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	451	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.S451F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCAGATCTCCGCCTCTTCC	0.617000													41	289					0	0	0.010771	0	0
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:669766C>G	ENST00000281017.3	-	4	411	c.318G>C	c.(316-318)atG>atC	p.M106I	TMEM18_ENST00000405941.3_Missense_Mutation_p.M109I|TMEM18_ENST00000355654.2_Missense_Mutation_p.M93I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	106					cell migration	integral to membrane|nuclear membrane		p.M106I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCACAATGATCATGGCATTCA	0.358000													13	22					0	0	0.016723	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039092	184039092	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:184039092C>T	ENST00000342981.4	+	9	1134	c.720C>T	c.(718-720)atC>atT	p.I240I	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.I153I|EIF4G1_ENST00000352767.3_Silent_p.I247I|EIF4G1_ENST00000427845.1_Silent_p.I153I|EIF4G1_ENST00000411531.1_Silent_p.I200I|EIF4G1_ENST00000346169.2_Silent_p.I240I|EIF4G1_ENST00000424196.1_Silent_p.I247I|EIF4G1_ENST00000435046.2_Silent_p.I44I|EIF4G1_ENST00000350481.5_Silent_p.I76I|EIF4G1_ENST00000434061.2_Silent_p.I44I|EIF4G1_ENST00000441154.1_Silent_p.I76I|EIF4G1_ENST00000382330.3_Silent_p.I247I|EIF4G1_ENST00000414031.1_Silent_p.I200I|EIF4G1_ENST00000319274.6_Silent_p.I240I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	240					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I240I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAGCAATCATTGCTGACC	0.572000													24	152					0	0	0.021523	0	0
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:21234952T>C	ENST00000233242.1	-	26	4915	c.4788A>G	c.(4786-4788)gcA>gcG	p.A1596A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1596					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1596A(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGCAGCAGTGCATTTTGCT	0.408000													17	21					0	0	0.028581	0	0
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:72734212C>T	ENST00000333149.2	-	3	629	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TRIM50_ENST00000453152.1_Silent_p.L143L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	143						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	p.L143L(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTCCTGCTTCAGCTCAGAGA	0.597000													27	112					0	0	0.006320	0	0
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:30232608G>C	ENST00000376075.3	+	5	492	c.417G>C	c.(415-417)cgG>cgC	p.R139R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGACGAGCGGAAAGCCCAGC	0.582000													10	43					0	0	0.008291	0	0
NXPE4	54827	broad.mit.edu	37	11	114453161	114453161	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:114453161C>T	ENST00000375478.3	-	3	859	c.679G>A	c.(679-681)Gct>Act	p.A227T	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.A227T(1)									CACAATTCAGCATTTGTGTTT	0.488000													4	43					0	0	0.014758	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:12028689G>C	ENST00000415385.3	+	9	977		c.e9+1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCACATTGGTATGTTTATG	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								17	23					0	0	0.028581	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:140508500C>G	ENST00000371421.4	+	5	516	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151								p.S151C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACGTGGCCTCTGCCACCAAG	0.652000													24	78					0	0	0.018920	0	0
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:219920102G>A	ENST00000295731.5	-	3	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	355					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.H355Y(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCCAGGTGGTGGTCAGCC	0.647000													32	35					0	0	0.012213	0	0
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:51261234G>T	ENST00000395542.2	-	3	482	c.298C>A	c.(298-300)Cca>Aca	p.P100T	COBL_ENST00000395540.2_Missense_Mutation_p.P100T|COBL_ENST00000265136.7_Missense_Mutation_p.P100T|COBL_ENST00000441453.1_Missense_Mutation_p.P100T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGGGATGGATTCAGGTGG	0.423000													9	16					7.48243e-07	8.57662e-07	0.006214	1	0
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:76243112A>G	ENST00000298832.9	+	23	2511	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TTLL5_ENST00000557636.1_Missense_Mutation_p.K783R|TTLL5_ENST00000554510.1_Missense_Mutation_p.K278R|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.K320R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.K769R(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGCTGAAAAGAAATCAAAG	0.378000													29	20					0	0	0.009535	0	0
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:12374318G>A	ENST00000358136.3	+	30	7212	c.7082G>A	c.(7081-7083)tGt>tAt	p.C2361Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2361Y	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2361				C -> R (in Ref. 6; CAE46021).	protein localization			p.C2361Y(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGTTCAGCTGTATCTTTCAG	0.493000													11	14					0	0	0.016723	0	0
HSPA6	3310	broad.mit.edu	37	1	161496369	161496369	+	Missense_Mutation	SNP	G	G	A	rs144080022		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:161496369G>A	ENST00000309758.4	+	1	2334	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	641					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATCATTGAGGAGGTTGATTG	0.582000													5	48					0	0	0.021553	0	0
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:22068796G>T	ENST00000261200.4	-	5	621	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	ABCC9_ENST00000261201.4_Missense_Mutation_p.L208I|ABCC9_ENST00000345162.2_Missense_Mutation_p.L208I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L208I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATCCTGGAGGTCTTCAGGA	0.363000													6	12					0.00116845	0.00123049	0.021553	1	0
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:90346962G>A	ENST00000300060.6	-	8	1666	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	451	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S451S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCGGGTGGGAGGAGGCCAGTG	0.607000													19	59					0	0	0.010504	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	26					0	0	0.009096	0	0
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:155171561C>T	ENST00000262640.6	+	7	624	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	VAMP7_ENST00000286448.6_Silent_p.I203I|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Silent_p.I162I	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348000													5	24					0	0	0.014758	0	0
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:27086965C>A	ENST00000480456.1	+	10	1428	c.878C>A	c.(877-879)aCa>aAa	p.T293K	JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000425221.2_Missense_Mutation_p.T257K|JAM2_ENST00000312957.5_Missense_Mutation_p.T293K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.T293K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAAGCACACAAAATCCTTT	0.274000													10	15					0.000442599	0.000472563	0.006214	1	0
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:47882444G>T	ENST00000335071.2	+	1	701	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721000													7	48					8.12818e-05	8.8297e-05	0.001984	1	0
NEUROG3	50674	broad.mit.edu	37	10	71332433	71332433	+	Missense_Mutation	SNP	C	C	G	rs140128333		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:71332433C>G	ENST00000242462.4	-	2	396	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	123	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.E123Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCAGCGTCTCGATCTTGGTG	0.652000													5	38					0	0	0.014758	0	0
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:133403100T>A	ENST00000329321.3	+	2	1752	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L428H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGAGTCTCGAGTCACTA	0.532000													31	49					0	0	0.012213	0	0
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:23848711G>T	ENST00000303531.7	+	2	341	c.189G>T	c.(187-189)caG>caT	p.Q63H	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Missense_Mutation_p.Q63H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	63					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.Q63H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGGAAGCAGGGATTCCAGT	0.547000													36	174					3.33393e-15	4.42608e-15	0.021022	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:111519791C>A	ENST00000261486.5	-	18	1820	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.W515L(2)|p.W142L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TACAGCTTCCCACTGAGGCGC	0.453000													9	31					0.00829132	0.00856617	0.008291	1	0
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:112838147C>G	ENST00000280155.2	+	1	1358	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	116					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.F116L(2)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	ACGTGCTCTTCTGCACGTCGT	0.622000													8	28					0	0	0.003080	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140516601C>T	ENST00000231134.5	+	1	1802	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R529C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGAGC	0.682000													26	72					0	0	0.021523	0	0
BUB1	699	broad.mit.edu	37	2	111425235	111425235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:111425235G>C	ENST00000535254.1	-	7	675	c.608C>G	c.(607-609)tCa>tGa	p.S203*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.S223*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.S223*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	223					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.S223*(1)|p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCCAAAGATGAGTGCACAGA	0.378000													7	45					0	0	0.001984	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:122263423T>A	ENST00000398250.1	+	2	502	c.150T>A	c.(148-150)ccT>ccA	p.P50P	PPAPDC1A_ENST00000398248.1_Silent_p.P50P|PPAPDC1A_ENST00000369073.3_Silent_p.P40P|PPAPDC1A_ENST00000439221.1_Silent_p.P50P|PPAPDC1A_ENST00000541332.1_Silent_p.P50P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	50					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.P50P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATAACATACCTACCCGCCTCA	0.393000													15	43					0	0	0.028581	0	0
RBM19	9904	broad.mit.edu	37	12	114384250	114384250	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:114384250T>C	ENST00000545145.2	-	12	1516	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	RBM19_ENST00000392561.3_Missense_Mutation_p.I480V|RBM19_ENST00000261741.5_Missense_Mutation_p.I480V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.I480V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTTCTTGATGGTAGATGGT	0.562000													7	30					0	0	0.003080	0	0
MED12L	116931	broad.mit.edu	37	3	150881826	150881826	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:150881826G>T	ENST00000474524.1	+	8	1292	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	MED12L_ENST00000422248.2_Missense_Mutation_p.Q418H|MED12L_ENST00000309237.4_Missense_Mutation_p.Q418H|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	418					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q418H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCAATCAGCAGGTAGACT	0.512000													6	105					0.00116845	0.00123049	0.021553	1	0
SLC25A6	293	broad.mit.edu	37	X	1508207	1508207	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:1508207C>G	ENST00000381401.5	-	2	1239	c.525G>C	c.(523-525)caG>caC	p.Q175H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	175					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.Q175H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACTGAAGCCCTGGTACAGGC	0.632000													34	114					0	0	0.012213	0	0
PRMT10	90826	broad.mit.edu	37	4	148582162	148582162	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:148582162G>T	ENST00000322396.6	-	7	1223	c.981C>A	c.(979-981)atC>atA	p.I327I	PRMT10_ENST00000541232.1_Silent_p.I214I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	327						cytoplasm	binding|protein methyltransferase activity	p.I327I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGGCAAATGGATACCAGCAA	0.373000													6	34					8.12818e-05	8.8297e-05	0.001984	1	0
ISG20	3669	broad.mit.edu	37	15	89198743	89198743	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:89198743G>A	ENST00000306072.5	+	4	885	c.527G>A	c.(526-528)cGc>cAc	p.R176H	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.R176H	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	176					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	p.R176H(1)		large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GGGCTGCCCCGCCTGGCTGTG	0.572000													19	63					0	0	0.008871	0	0
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428000													11	34					2.27111e-07	2.64256e-07	0.013537	1	0
CEP152	22995	broad.mit.edu	37	15	49059597	49059597	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:49059597T>A	ENST00000380950.2	-	16	2269	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	CEP152_ENST00000325747.5_Missense_Mutation_p.L601F|CEP152_ENST00000399334.3_Missense_Mutation_p.L694F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	694					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATGCTTTGCTAATAGGCTTT	0.438000													7	15					0	0	0.003080	0	0
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:120916426C>T	ENST00000422003.2	+	2	215	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TBCEL_ENST00000529397.1_Silent_p.F9F	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm|cytoskeleton		p.F9F(2)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GAAGAAGTTTCATGCAAGTAT	0.383000													12	14					0	0	0.016723	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140788971A>T	ENST00000520790.1	+	1	1202	c.1202A>T	c.(1201-1203)tAc>tTc	p.Y401F	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.Y401F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATAACTACTACAAACTG	0.458000													12	27					0	0	0.010729	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522323	144522323	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:144522323C>T	ENST00000262577.5	-	11	2734	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	901					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTTGGAGCACGCTGCTGCTA	0.662000													3	9					0	0	0.009096	0	0
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:2535350C>T	ENST00000288709.6	-	11	1227	c.987G>A	c.(985-987)gaG>gaA	p.E329E	MMEL1_ENST00000378412.3_Silent_p.E338E|MMEL1_ENST00000502556.1_Silent_p.E181E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.E329E(2)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTGCAGCTCCTCCAGTCCCA	0.662000													21	80					0	0	0.018920	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:128060645C>T	ENST00000254730.6	+	5	1410	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	EEFSEC_ENST00000483457.1_Silent_p.H397H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	452						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.H452H(2)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCTGCTCCACGGGCTAGAGG	0.612000													23	40					0	0	0.014323	0	0
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473000													27	138					0	0	0.027356	0	0
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:62701953G>T	ENST00000361317.2	+	9	1145	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.G262C|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	262	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G262C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTTCACCTGCGGCAAGTGCAG	0.632000													10	18					1.76689e-08	2.11607e-08	0.006214	1	0
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:37821747C>T	ENST00000345060.3	-	2	1711	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	406					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	p.G406R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TAAGAAACTCCCCAAGAAGCC	0.507000													5	16					0	0	0.021553	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405157	61405157	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:61405157G>A	ENST00000496593.1	+	0	1761					NR_002775.2																						TGCaaaacaaggaaataaagg	0.333000													4	19					0	0	0.009096	0	0
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:148802277C>T	ENST00000378061.2	-	4	818	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G229E(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCGGACTTCCCTCTGGACGA	0.532000													33	26					0	0	0.013726	0	0
PTGER2	5732	broad.mit.edu	37	14	52781297	52781297	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:52781297G>A	ENST00000245457.5	+	1	185	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	11						integral to plasma membrane	prostaglandin E receptor activity	p.E11K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCCCAGTCTGAGGACTGCGA	0.627000													7	76					0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152187607	152187607	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152187607G>C	ENST00000368801.2	-	3	6573	c.6498C>G	c.(6496-6498)tcC>tcG	p.S2166S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2166					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACTGACGGGAGCCAGACC	0.632000													19	735					0	0	0.016522	0	0
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:15558333T>C	ENST00000344577.2	-	3	578	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	LIPI_ENST00000536861.1_Missense_Mutation_p.I164V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I185V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AATCCACTGATATGAGCCCCT	0.313000													83	50					0	0	0.014410	0	0
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:71800926T>C	ENST00000373545.3	-	32	3910	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	PHKA1_ENST00000373539.3_Missense_Mutation_p.M1217V|PHKA1_ENST00000373542.4_Missense_Mutation_p.M1200V|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1187V|PHKA1_ENST00000541944.1_Missense_Mutation_p.M1128V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1200					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M1200V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTAGGTCATGGTGCCAAAC	0.562000													5	13					0	0	0.021553	0	0
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:19491400G>C	ENST00000375267.2	-	32	4407	c.4404C>G	c.(4402-4404)ctC>ctG	p.L1468L	UBR4_ENST00000375217.2_Silent_p.L1468L|UBR4_ENST00000375254.3_Silent_p.L1468L|UBR4_ENST00000375226.2_Silent_p.L1468L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1468					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L1468L(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCGGGTGAGCCAGGCCT	0.567000													38	74					0	0	0.019004	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:209218694G>T	ENST00000264380.4	+	40	6075	c.5917G>T	c.(5917-5919)Gtc>Ttc	p.V1973F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1973	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.V1973F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTGATGTGGTCCTGCTAGA	0.393000													31	38					3.73148e-12	4.77469e-12	0.007291	1	0
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:235949751A>G	ENST00000409212.1	+	4	845	c.338A>G	c.(337-339)aAc>aGc	p.N113S	SH3BP4_ENST00000344528.4_Missense_Mutation_p.N113S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N113S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.N113S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTTGAACTACCGGAAC	0.552000													8	34					0	0	0.003080	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:89916936T>A	ENST00000548729.1	-	3	1684	c.1382A>T	c.(1381-1383)gAc>gTc	p.D461V	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.D464V|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.D292V	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.D464V(1)									GGGGTTGTTGTCAGGAGAATT	0.403000													9	41					0	0	0.004482	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798781	113798781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:113798781G>A	ENST00000281273.4	+	8	1032	c.775G>A	c.(775-777)Gag>Aag	p.E259K	QTRTD1_ENST00000479882.1_Missense_Mutation_p.E136K|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E271K|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E153K	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	259					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.E259K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TCGGCCAGATGAGGTGCTCGA	0.408000													14	114					0	0	0.028581	0	0
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:50368512G>C	ENST00000322344.3	-	4	479	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	PNKP_ENST00000600573.1_Missense_Mutation_p.L124V|PNKP_ENST00000596014.1_Missense_Mutation_p.L124V|PNKP_ENST00000600910.1_Missense_Mutation_p.L124V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572000								Other BER factors					11	53					0	0	0.010729	0	0
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:99227767G>T	ENST00000375249.4	+	3	736	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	221					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	p.G221W(2)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAGATATGGTGGGAATGACAA	0.418000													23	47					1.64293e-13	2.13142e-13	0.018920	1	0
GPRIN1	114787	broad.mit.edu	37	5	176025235	176025235	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:176025235T>A	ENST00000303991.4	-	2	1778	c.1601A>T	c.(1600-1602)aAg>aTg	p.K534M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	534						growth cone|plasma membrane		p.K534M(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGCCGCCTTTCCAGAGGC	0.662000													27	58					0	0	0.008361	0	0
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:42511835G>C	ENST00000318522.5	+	9	1265	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	EML4_ENST00000402711.2_Missense_Mutation_p.D277H|EML4_ENST00000401738.3_Missense_Mutation_p.D346H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.D335H(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGGATAAAGATGGAAGGGT	0.368000			T	ALK	NSCLC								6	24					0	0	0.021553	0	0
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:66357977T>A	ENST00000333861.3	-	1	2577	c.2510A>T	c.(2509-2511)cAc>cTc	p.H837L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837								p.H837L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGTTGACTGGTGGGGATCCTT	0.577000													97	193					0	0	0.014410	0	0
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:108778673C>T	ENST00000232603.5	-	12	1093	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000483760.1_Silent_p.K337K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	337					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363000													6	9					0	0	0.001984	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:113436310G>T	ENST00000313341.3	-	2	648	c.322C>A	c.(322-324)Cgc>Agc	p.R108S		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.R108S(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTCTTGATGCGCTGCACCGTC	0.687000													20	33					1.01871e-10	1.27485e-10	0.008871	1	0
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:52448768G>T	ENST00000545748.1	+	3	1813	c.818G>T	c.(817-819)gGg>gTg	p.G273V	NR4A1_ENST00000243050.1_Missense_Mutation_p.G219V|NR4A1_ENST00000360284.3_Missense_Mutation_p.G232V|NR4A1_ENST00000394825.1_Missense_Mutation_p.G219V|NR4A1_ENST00000394824.2_Missense_Mutation_p.G219V|NR4A1_ENST00000550082.1_Missense_Mutation_p.G232V|NR4A1_ENST00000548232.1_Missense_Mutation_p.G219V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	p.G219V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CACCAGCTGGGGGAGGGAGAG	0.632000													77	145					8.6982e-55	1.2403e-54	0.014410	1	0
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:52257047C>A	ENST00000597542.1	-	9	2314	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	TLR9_ENST00000494383.1_Missense_Mutation_p.R582L|TLR9_ENST00000360658.2_Nonsense_Mutation_p.G429*			Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCGAAGCTCCGCTGATGCGG	0.642000													45	132					3.61183e-13	4.67182e-13	0.014410	1	0
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Missense_Mutation	SNP	C	C	G	rs113587125	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:71507232C>G	ENST00000528685.1	+	3	329	c.329C>G	c.(328-330)cCg>cGg	p.P110R	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612000													6	185					0	0	0.006214	0	0
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:42176906G>T	ENST00000520810.1	+	14	1669	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E272*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E436*|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E493*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	495					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.E495*(2)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GATTGACCTGGAGAAGTACAG	0.428000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	38					8.24728e-16	1.1016e-15	0.024334	1	0
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:31793152A>T	ENST00000396193.1	-	19	2749	c.2156T>A	c.(2155-2157)tTg>tAg	p.L719*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.L659*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.L659*	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L659*(2)|p.L719*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAAATGACGCAAAGGAGGCTT	0.483000													16	44					0	0	0.028581	0	0
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:160209914G>C	ENST00000368073.3	-	4	730	c.296C>G	c.(295-297)tCa>tGa	p.S99*	DCAF8_ENST00000326837.2_Nonsense_Mutation_p.S99*|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.S253*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99						CUL4 RING ubiquitin ligase complex	protein binding	p.S99*(2)|p.S253*(2)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctcttcctctGAGCGGTCATG	0.527000													21	26					0	0	0.008871	0	0
SLC38A9	153129	broad.mit.edu	37	5	54960619	54960619	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:54960619G>A	ENST00000539768.1	-	6	598	c.599C>T	c.(598-600)tCg>tTg	p.S200L	SLC38A9_ENST00000416547.2_Missense_Mutation_p.S76L|SLC38A9_ENST00000396865.2_Missense_Mutation_p.S200L|SLC38A9_ENST00000515629.1_Missense_Mutation_p.S137L|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S200L|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S173L			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAGGAGACTCGACCACTGCCC	0.368000													3	24					0	0	0.009096	0	0
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:19785946C>T	ENST00000341998.2	-	1	980	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A307T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	307					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A307T(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTGCTTGGGCTTCTGGTGCT	0.378000													13	37					0	0	0.016723	0	0
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:170112651T>A	ENST00000263816.3	-	19	3020	c.2735A>T	c.(2734-2736)cAg>cTg	p.Q912L	LRP2_ENST00000443831.1_Missense_Mutation_p.Q775L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	912					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Q912L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTGTCATCTGCTCTATATG	0.363000													23	23					0	0	0.018920	0	0
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:26533740C>T	ENST00000333478.6	-	8	2841	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR113_ENST00000311519.1_Silent_p.L952L|GPR113_ENST00000421160.2_Silent_p.L883L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.L555L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L952L(2)|p.L753L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAAGGTCTCAGCAACTTCA	0.582000													10	16					0	0	0.006214	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336924	42336924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:42336924G>A	ENST00000262418.6	-	8	790	c.635C>T	c.(634-636)tCa>tTa	p.S212L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	212					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.S212L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCAGATGGTGAGTGCCCTTC	0.602000													11	59					0	0	0.010729	0	0
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:31422674C>A	ENST00000389202.2	+	14	1592	c.1543C>A	c.(1543-1545)Cac>Aac	p.H515N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	515					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H515N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGCAGGGCCACCCCTGGGG	0.622000													49	141					5.7616e-29	8.12709e-29	0.014410	1	0
MYO9A	4649	broad.mit.edu	37	15	72122611	72122611	+	Silent	SNP	C	C	A	rs146276674	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:72122611C>A	ENST00000356056.5	-	40	7351	c.6879G>T	c.(6877-6879)tcG>tcT	p.S2293S	MYO9A_ENST00000564571.1_Silent_p.S2293S|MYO9A_ENST00000424560.1_Silent_p.S2364S|MYO9A_ENST00000444904.1_Silent_p.S2274S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAACAGGAGACGATGGACCTG	0.468000													3	40					6.4e-05	6.9887e-05	0.004672	1	0
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:151520208A>C	ENST00000535741.1	-	38	6470	c.5997T>G	c.(5995-5997)ccT>ccG	p.P1999P	LRBA_ENST00000510413.1_Silent_p.P1999P|LRBA_ENST00000507224.1_Silent_p.P1999P|LRBA_ENST00000357115.3_Silent_p.P1999P			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.P1999P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGATCCTAGAGGGTTACGCA	0.502000													15	44					0	0	0.020292	0	0
PROS1	5627	broad.mit.edu	37	3	93646105	93646105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:93646105C>A	ENST00000394236.3	-	2	539	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTTTCCGGGTCATTTTCAAAG	0.393000													14	110					1.00905e-13	1.31427e-13	0.008871	1	0
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:33673054C>G	ENST00000354992.2	-	15	2636	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	LARGE_ENST00000397394.2_Missense_Mutation_p.D689H|LARGE_ENST00000402320.1_Missense_Mutation_p.D637H|LARGE_ENST00000452586.2_Missense_Mutation_p.D488H|LARGE_ENST00000437602.2_Missense_Mutation_p.D640H|LARGE_ENST00000337431.2_Missense_Mutation_p.D637H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	689					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.D689H(1)		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)				ACCTGCACATCCAGCTCCATG	0.532000													10	44					0	0	0.006214	0	0
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:117552698A>T	ENST00000256652.4	+	2	328	c.270A>T	c.(268-270)cgA>cgT	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													6	38					0	0	0.001984	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751805	140751805	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140751805G>T	ENST00000576222.1	+	1	1975	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCCGGGCTGTTCAGC	0.687000													14	85					9.31168e-06	1.04269e-05	0.016723	1	0
KCTD1	284252	broad.mit.edu	37	18	24035815	24035815	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:24035815C>T	ENST00000417602.1	-	5	2489	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	KCTD1_ENST00000579973.1_Silent_p.G222G|KCTD1_ENST00000317932.7_Silent_p.G222G|KCTD1_ENST00000408011.3_Silent_p.G222G|KCTD1_ENST00000580059.1_Silent_p.G222G	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	222					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	p.G830G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTACTCCTCCCCCACAGGAGC	0.572000													7	66					0	0	0.003080	0	0
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:6129473G>T	ENST00000316529.3	+	1	560	c.465G>T	c.(463-465)atG>atT	p.M155I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M155I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCATCATGCTCAGGAATG	0.502000													20	57					5.03518e-11	6.36202e-11	0.007413	1	0
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:116599299C>A	ENST00000395715.3	-	5	3206	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	TRPS1_ENST00000519674.1_Missense_Mutation_p.G864W|TRPS1_ENST00000520276.1_Missense_Mutation_p.G868W|TRPS1_ENST00000220888.5_Missense_Mutation_p.G864W|TRPS1_ENST00000519076.1_Missense_Mutation_p.G618W	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	864					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G877W(2)|p.G864W(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGAGGGCCCCAGACTTCTCT	0.547000									Langer-Giedion syndrome				20	67					8.00594e-06	8.9801e-06	0.007413	1	0
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:22843099G>C	ENST00000360412.2	-	4	1400	c.625C>G	c.(625-627)Cat>Gat	p.H209D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.H209D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H209D(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTCATTGTATGAAAGGTATCT	0.393000													17	80					0	0	0.006122	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28216601	28216601	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr21:28216601C>G	ENST00000284984.2	-	1	1127	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	225					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGAGCCCCTTCGTCCTCGCCC	0.652000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0.004672	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:67829219T>A	ENST00000433211.1	-	15	2180	c.2006A>T	c.(2005-2007)gAa>gTa	p.E669V	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E669V|CTNNA3_ENST00000373735.1_Missense_Mutation_p.E8V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	669					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.E669V(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTTCTTTTTCTGCCTCAGG	0.348000													9	29					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106321585	106321585	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:106321585C>T	ENST00000390559.2	-	0	648																											GGTCACTCACCGGGGCCACAC	0.637000													5	17					0	0	0.014758	0	0
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55846499G>C	ENST00000322678.1	+	1	502	c.502G>C	c.(502-504)Gac>Cac	p.D168H	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D168H(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CGAATTCTGTGACTCCAATGC	0.448000													13	23					0	0	0.016723	0	0
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:109055932T>C	ENST00000261401.3	-	4	493	c.321A>G	c.(319-321)gtA>gtG	p.V107V	CORO1C_ENST00000549772.1_Silent_p.V113V|CORO1C_ENST00000421578.2_Silent_p.V2V|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Silent_p.V160V|CORO1C_ENST00000541050.1_Silent_p.V107V	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	107					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.V107V(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGATCTGCCATACCTGTTGGA	0.438000													10	19					0	0	0.006214	0	0
PCDH1	5097	broad.mit.edu	37	5	141233739	141233739	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:141233739G>C	ENST00000287008.3	-	5	3729	c.3582C>G	c.(3580-3582)ttC>ttG	p.F1194L	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.F1194L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TACTGTGGGAGAAGGCACTGT	0.677000													6	15					0	0	0.021553	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:202207129C>A	ENST00000405148.2	-	7	931	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.C163F|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.C163F|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.C163F|ALS2CR12_ENST00000448967.1_5'UTR	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	163					regulation of GTPase activity		protein binding	p.C163F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CATCTCAGCACAGCGGAGATC	0.483000													15	11					2.23348e-06	2.53128e-06	0.028581	1	0
ZNF232	7775	broad.mit.edu	37	17	5012590	5012590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:5012590G>A	ENST00000416429.2	-	3	794	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ZNF232_ENST00000575898.1_Intron|ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000250076.3_Intron			Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCTGGCCCAAGAGAGGTTTGA	0.532000													19	23					0	0	0.006122	0	0
ADCY10	55811	broad.mit.edu	37	1	167830153	167830153	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:167830153C>G	ENST00000367848.1	-	15	1986	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	ADCY10_ENST00000545172.1_Missense_Mutation_p.D436H|ADCY10_ENST00000367851.4_Missense_Mutation_p.D589H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.D589H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTTTTCATCCAACAGTGTC	0.403000													11	67					0	0	0.013537	0	0
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:60566883G>T	ENST00000373886.3	+	17	2345	c.2341G>T	c.(2341-2343)Gtg>Ttg	p.V781L	BICC1_ENST00000263103.1_Missense_Mutation_p.V407L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	781					multicellular organismal development		RNA binding	p.V781L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCCAATCATGTGTCCTATAA	0.468000													27	62					1.77063e-15	2.35544e-15	0.027356	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144923746	144923746	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:144923746C>T	ENST00000529945.1	-	2	1640	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D375N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D375N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D304N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D401N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D25N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	238				R -> Q (in Ref. 4; CAD91152).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.D238N(2)|p.D401N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGTGGGAATCAGATACAGAC	0.438000			T	PDGFRB	MPD								10	137					0	0	0.006214	0	0
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:25589787C>A	ENST00000269141.3	-	5	1019	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CDH2_ENST00000399380.3_Missense_Mutation_p.G168V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	199	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G199V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTCCTGGCCCAGTTACACT	0.488000													13	46					1.5842e-08	1.91126e-08	0.016723	1	0
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156776986A>C	ENST00000392306.2	-	8	1323	c.1184T>G	c.(1183-1185)cTt>cGt	p.L395R	SH2D2A_ENST00000368199.3_Missense_Mutation_p.L385R|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L367R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	385					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.L385R(2)|p.L395R(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGCCCAAGGGGAAGCCA	0.582000													55	76					0	0	0.014410	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756552	15756552	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:15756552C>G	ENST00000221307.7	+	3	270	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000591058.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.L74L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGAAGGTCTCCTATACACAC	0.557000													11	80					0	0	0.013537	0	0
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:4892412G>T	ENST00000328908.5	+	4	783	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDYL_ENST00000449732.2_Nonsense_Mutation_p.E32*|CDYL_ENST00000343762.5_Nonsense_Mutation_p.E32*|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E164*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	218					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.E218*(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGAGCCCTGAGAAACTGGA	0.597000													15	23					1.49906e-05	1.66718e-05	0.020292	1	0
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:51742776C>A	ENST00000262262.4	+	7	949	c.928C>A	c.(928-930)Cac>Aac	p.H310N	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.H183N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	310					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.H310N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCATAAGAAACACCAGAAGAA	0.512000													9	13					0.00448238	0.00466039	0.004482	1	0
METTL13	51603	broad.mit.edu	37	1	171756899	171756899	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:171756899G>A	ENST00000361735.3	+	4	1404	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	METTL13_ENST00000362019.3_Missense_Mutation_p.D294N|METTL13_ENST00000367737.5_Missense_Mutation_p.D224N|METTL13_ENST00000458517.1_Missense_Mutation_p.D379N	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	380							methyltransferase activity|protein binding	p.D380N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGTGGGTGGGGACATTGGGGT	0.502000													5	43					0	0	0.001984	0	0
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:178040602C>G	ENST00000316308.4	-	7	866	c.698G>C	c.(697-699)gGt>gCt	p.G233A		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G233A(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACAAACATGACCATGATGATC	0.348000													9	33					0	0	0.004482	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140308879G>A	ENST00000253807.2	+	1	2402	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R801K|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2												p.R801K(2)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGGAATAGGAAAGGGGAT	0.448000													14	50					0	0	0.004990	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594296	136594296	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:136594296G>A	ENST00000531224.1	-	7	2134	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L	BCLAF1_ENST00000527759.1_Silent_p.L626L|BCLAF1_ENST00000530767.1_Silent_p.L455L|BCLAF1_ENST00000527536.1_Silent_p.L628L|BCLAF1_ENST00000353331.4_Silent_p.L626L|BCLAF1_ENST00000392348.2_Silent_p.L626L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	628					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.L628L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCTCGTTTAGGGTCATTGCA	0.408000													4	81					0	0	0.009096	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175510	19175510	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr22:19175510C>G	ENST00000263200.10	-	28	4489	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1473Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1473	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCTCCTCCTCTGTCAGCAGG	0.592000			T	?	ALCL								22	137					0	0	0.014323	0	0
FPR2	2358	broad.mit.edu	37	19	52272003	52272003	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:52272003T>A	ENST00000598776.1	+	2	864	c.92T>A	c.(91-93)gTg>gAg	p.V31E	FPR2_ENST00000598953.1_Missense_Mutation_p.V31E|FPR2_ENST00000340023.6_Missense_Mutation_p.V31E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	31					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V31E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCATTGGTGGTGCTTGGG	0.537000													13	75					0	0	0.016723	0	0
TTN	7273	broad.mit.edu	37	2	179612234	179612234	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:179612234G>C	ENST00000360870.5	-	46	15115	c.14893C>G	c.(14893-14895)Cct>Gct	p.P4965A	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1082	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACTCAGGAGAAAGTGGA	0.393000													11	69					0	0	0.008291	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													8	749	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259961	16259973	+	Frame_Shift_Del	DEL	AGAATTCGTCCCA	AGAATTCGTCCCA	-	rs149855157	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:16259961_16259973delAGAATTCGTCCCA	ENST00000375759.3	+	11	7430_7442	c.7226_7238delAGAATTCGTCCCA	c.(7225-7239)gafs	p.ENSSQ2409fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2409	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCCACAGAGAATTCGTCCCAAGAAATCAGT	0.554													10	78	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16914221	16914222	+	Splice_Site	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:16914221_16914222insG	ENST00000430580.2	-	10	1451_1452	c.566_splice	c.e10+1	p.PG188_splice		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	188	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGATG	0.441													9	1835	---	---	---	---					
DHDDS	79947	broad.mit.edu	37	1	26774120	26774121	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:26774120_26774121insG	ENST00000360009.2	+	6	588_589	c.511_512insG	c.(511-513)gggfs	p.G171fs	DHDDS_ENST00000526219.1_Frame_Shift_Ins_p.G132fs|DHDDS_ENST00000525682.2_Intron|DHDDS_ENST00000374185.3_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000427245.2_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000236342.7_Frame_Shift_Ins_p.G171fs	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	171							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGAGATGGCCTGGGGGGTGGAG	0.505													7	166	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27097629	27097629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27097629delG	ENST00000324856.7	+	12	3589	c.3218delG	c.(3217-3219)tgfs	p.W1073fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.W690fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.W1073fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1073	ARID.				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)		AACAAAAAATGGCGGGAACTT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								54	77	---	---	---	---					
KIAA0319L	79932	broad.mit.edu	37	1	35928291	35928292	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:35928291_35928292insG	ENST00000325722.3	-	8	1458_1459	c.1224_1225insC	c.(1222-1227)ccttgcfs	p.C409fs	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	409	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAATAGCAATGGGGGGCCGAT	0.450													8	430	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:40777384delC	ENST00000372748.3	-	9	517	c.421delG	c.(421-423)acfs	p.D141fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX		p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622													7	20	---	---	---	---					
FOXJ3	22887	broad.mit.edu	37	1	42657204	42657205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:42657204_42657205insG	ENST00000372572.1	-	11	1431_1432	c.1120_1121insC	c.(1120-1122)gatfs	p.D374fs	FOXJ3_ENST00000372573.1_Frame_Shift_Ins_p.D374fs|FOXJ3_ENST00000361776.1_Frame_Shift_Ins_p.D340fs|FOXJ3_ENST00000361346.1_Frame_Shift_Ins_p.D374fs|FOXJ3_ENST00000545068.1_Frame_Shift_Ins_p.D374fs	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	374					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTGTGCATCTGGGGGTGAGAC	0.584													7	1211	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													9	517	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													8	1105	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													8	206	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								8	257	---	---	---	---					
WLS	79971	broad.mit.edu	37	1	68624901	68624901	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:68624901delA	ENST00000262348.4	-	3	662	c.409delT	c.(409-411)ccfs	p.S137fs	WLS_ENST00000354777.2_Frame_Shift_Del_p.S135fs|WLS_ENST00000540432.1_Frame_Shift_Del_p.S137fs|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Frame_Shift_Del_p.S46fs	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	137	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TAAGCCAGGGAAACGTCCATG	0.438													32	164	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86919069	86919070	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86919069_86919070delGC	ENST00000370565.4	+	13	2335_2336	c.2173_2174delGC	c.(2173-2175)tfs	p.A725fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	725					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGATGAATGCTCCAAGGAAA	0.436													18	85	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													13	146	---	---	---	---					
CDC14A	8556	broad.mit.edu	37	1	100964709	100964710	+	Frame_Shift_Ins	INS	-	-	C	rs35385659	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:100964709_100964710insC	ENST00000336454.3	+	15	2001_2002	c.1646_1647insC	c.(1645-1647)accfs	p.T549fs	CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T549fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T549fs|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T491fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	549					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACCTGAACAGCCCCCCAGGCC	0.559													11	239	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103352560	103352561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:103352560_103352561insT	ENST00000358392.2	-	63	5013_5014	c.4696_4697insA	c.(4696-4698)gagfs	p.E1566fs	COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.E1515fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.E1438fs|COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.E1554fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1554					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGTCTTCTCGTTTTTTTGGAG	0.386													7	206	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													11	189	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													18	474	---	---	---	---					
LCE1F	353137	broad.mit.edu	37	1	152748933	152748934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152748933_152748934insC	ENST00000334371.2	+	1	86_87	c.86_87insC	c.(85-87)tccfs	p.S29fs		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaagt	0.658													7	210	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				16	282	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													16	384	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158059509	158059510	+	Splice_Site	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158059509_158059510insC	ENST00000368172.1	+	6	627_628	c.613_splice	c.e6-1	p.GP205_splice	KIRREL_ENST00000392272.2_Splice_Site_p.GP288_splice|KIRREL_ENST00000360089.4_Splice_Site_p.GP227_splice|KIRREL_ENST00000416935.2_Splice_Site_p.GP291_splice|KIRREL_ENST00000368173.3_Splice_Site_p.GP407_splice|KIRREL_ENST00000359209.6_Splice_Site_p.GP391_splice			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	391	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGCTTGCAGGGCCCCCCATCAT	0.579													8	397	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													41	1161	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													9	753	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													12	192	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169838144	169838155	+	In_Frame_Del	DEL	AAGGTCTGTTGA	AAGGTCTGTTGA	-	rs142479162		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:169838144_169838155delAAGGTCTGTTGA	ENST00000367772.4	-	7	848_859	c.651_662delTCAACAGACCTT	c.(649-663)ttg>tt	p.FQQTL217del	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_In_Frame_Del_p.FQQTL217del|SCYL3_ENST00000367771.5_In_Frame_Del_p.FQQTL217del	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	217	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.T220T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTTGAGTGCAAGGTCTGTTGAAAGCTGGAGA	0.495													9	83	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													9	507	---	---	---	---					
CAMSAP2	23271	broad.mit.edu	37	1	200776601	200776602	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200776601_200776602insT	ENST00000358823.2	+	3	767_768	c.497_498insT	c.(496-498)gttfs	p.V166fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Ins_p.V166fs|CAMSAP2_ENST00000236925.4_Frame_Shift_Ins_p.V166fs	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	166						cytoplasm|microtubule	protein binding										CAGTATTCAGCTTTTTTTCAAG	0.401													11	918	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													8	326	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	297	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													19	261	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													10	554	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													8	410	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													9	709	---	---	---	---					
OR2B11	127623	broad.mit.edu	37	1	247614423	247614424	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247614423_247614424insG	ENST00000318749.6	-	1	884_885	c.861_862insC	c.(859-864)ccctctfs	p.S288fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGATTGAGAGTGGGGGTGATTA	0.485													7	589	---	---	---	---					
RRM2	6241	broad.mit.edu	37	2	10262943	10262944	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:10262943_10262944delCC	ENST00000360566.2	+	1	489_490	c.198_199delCC	c.(196-201)gtcgfs	p.VP66fs	RRM2_ENST00000304567.5_Frame_Shift_Del_p.VP6fs	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	6					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCCTCCGTGTCCCGCTCGCGCC	0.698													2	4	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-585)gccfs	p.A195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589													11	101	---	---	---	---					
SOCS5	9655	broad.mit.edu	37	2	46986404	46986405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:46986404_46986405insT	ENST00000306503.5	+	2	907_908	c.735_736insT	c.(733-738)acttttfs	p.TF245fs	SOCS5_ENST00000394861.2_Frame_Shift_Ins_p.TF245fs	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	245					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CACATTCAACATTTTTTGATAC	0.411													7	202	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:51255156_51255157delCG	ENST00000404971.1	-	2	1594_1595	c.255_256delCG	c.(253-258)cggcfs	p.RG85fs	NRXN1_ENST00000405472.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405581.1_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.RG85fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	85	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGCGGCCGCCGCGCGTCAGAA	0.663													5	7	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													7	613	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													10	458	---	---	---	---					
MRPS5	64969	broad.mit.edu	37	2	95753232	95753233	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:95753232_95753233insG	ENST00000272418.2	-	12	1370_1371	c.1162_1163insC	c.(1162-1164)gggfs	p.G388fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	388					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.R388L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGGGCCCCCGGGGGGACGCA	0.559													7	185	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													8	556	---	---	---	---					
NPHP1	4867	broad.mit.edu	37	2	110926097	110926098	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:110926097_110926098insT	ENST00000316534.4	-	6	628_629	c.555_556insA	c.(553-558)aactgafs	p.N*185fs	NPHP1_ENST00000417665.1_Frame_Shift_Ins_p.N*185fs|NPHP1_ENST00000393272.3_Frame_Shift_Ins_p.N*185fs|NPHP1_ENST00000355301.4_Frame_Shift_Ins_p.N*123fs|NPHP1_ENST00000445609.2_Frame_Shift_Ins_p.N*185fs			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	185	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAACCATCAGGTTTTTTTTCAA	0.342													7	378	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128699612	128699613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128699612_128699613insT	ENST00000357702.5	-	21	3350_3351	c.3219_3220insA	c.(3217-3222)aatgtcfs	p.NV1073fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.NV1046fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.NV1038fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1038					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATTTGGACACTTTTTTGACAG	0.431													13	696	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													8	1354	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													11	221	---	---	---	---					
MCM6	4175	broad.mit.edu	37	2	136622724	136622725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:136622724_136622725insC	ENST00000264156.2	-	7	996_997	c.936_937insG	c.(934-939)ggaagafs	p.R313fs		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	313					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|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTGAGCTCTTTCCCCCCAAACT	0.376													9	328	---	---	---	---					
BAZ2B	29994	broad.mit.edu	37	2	160229586	160229587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:160229586_160229587insC	ENST00000392783.2	-	27	4677_4678	c.4182_4183insG	c.(4180-4185)ggttttfs	p.GF1394fs	BAZ2B_ENST00000392782.1_Frame_Shift_Ins_p.GF1358fs|BAZ2B_ENST00000355831.2_Frame_Shift_Ins_p.GF1360fs|BAZ2B_ENST00000343439.5_Frame_Shift_Ins_p.GF1294fs	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTACAAAAATCCCCCCACATT	0.406													7	474	---	---	---	---					
BAZ2B	29994	broad.mit.edu	37	2	160303484	160303484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:160303484delC	ENST00000392783.2	-	6	1000	c.505delG	c.(505-507)tafs	p.V169fs	BAZ2B_ENST00000392782.1_Frame_Shift_Del_p.V167fs|BAZ2B_ENST00000355831.2_Frame_Shift_Del_p.V169fs|BAZ2B_ENST00000343439.5_Frame_Shift_Del_p.V167fs	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	169	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GACCCATTTACACCTTGAAAA	0.294													22	139	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													9	417	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													12	418	---	---	---	---					
HOXD11	3237	broad.mit.edu	37	2	176973637	176973638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:176973637_176973638insC	ENST00000249504.5	+	2	854_855	c.784_785insC	c.(784-786)cccfs	p.P262fs	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTTGCAGTTGCCCCCCAGCGG	0.619			T	NUP98	AML								8	189	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													8	210	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:197171262_197171263insG	ENST00000260983.2	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cctgaafs	p.E922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.530													8	648	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													7	228	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													17	222	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													7	166	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)cccfs	p.P618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.500													10	599	---	---	---	---					
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)gatfs	p.D250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													9	294	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													12	367	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:9100069delC	ENST00000383836.3	-	7	1316	c.889delG	c.(889-891)aafs	p.E297fs	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.E297fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552			T	RAF1	pilocytic astrocytoma								163	487	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	63	---	---	---	---					
MKRN2	23609	broad.mit.edu	37	3	12623348	12623349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12623348_12623349insC	ENST00000170447.7	+	7	1147_1148	c.1010_1011insC	c.(1009-1011)tccfs	p.S337fs	MKRN2_ENST00000448482.1_Frame_Shift_Ins_p.S335fs|MKRN2_ENST00000411987.1_Frame_Shift_Ins_p.S294fs	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	337						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AAGGGGACCTGCCCATTTGGAA	0.495													98	308	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19554727	19554728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:19554727_19554728insC	ENST00000328405.2	+	13	2611_2612	c.2345_2346insC	c.(2344-2346)gccfs	p.A782fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.470													7	78	---	---	---	---					
SNRK	54861	broad.mit.edu	37	3	43345163	43345166	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:43345163_43345166delGACA	ENST00000296088.7	+	3	772_775	c.468_471delGACA	c.(466-471)ttfs	p.LT156fs	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Frame_Shift_Del_p.LT156fs|SNRK_ENST00000454177.1_Frame_Shift_Del_p.LT156fs	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	156	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTAAAGTTGACAGACTTTGGGT	0.397													23	179	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													7	166	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													7	528	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													8	329	---	---	---	---					
ROBO1	6091	broad.mit.edu	37	3	78988050	78988050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:78988050delG	ENST00000436010.2	-	2	1080	c.83delC	c.(82-84)cafs	p.P29fs	ROBO1_ENST00000464233.1_Frame_Shift_Del_p.P68fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.P29fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.P29fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	68					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATGCGAGGTGGAAAATCTTC	0.433													25	153	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													9	476	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													12	766	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													8	1872	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													7	658	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													7	444	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													10	115	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880881	137880881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:137880881delC	ENST00000260803.4	-	8	1638	c.1485delG	c.(1483-1485)ggfs	p.G495fs	DBR1_ENST00000505015.2_Frame_Shift_Del_p.G261fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	495						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACTCCACAGTCCCACCAGGTT	0.453													86	404	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													7	545	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													17	676	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													8	242	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194147849	194147850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:194147849_194147850insA	ENST00000439040.1	-	29	3870_3871	c.3079_3080insT	c.(3079-3081)ggtfs	p.G1027fs	ATP13A3_ENST00000256031.4_Frame_Shift_Ins_p.G1027fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTGTTTGACCCAAAAAAAACCC	0.381													9	288	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:197427914_197427915insG	ENST00000273582.5	-	7	1195_1196	c.650_651insC	c.(649-651)cgtfs	p.R217fs	KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													7	229	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:15067857_15067858insT	ENST00000538197.1	+	12	2958_2959	c.2958_2959insT	c.(2956-2961)ccttttfs	p.PF986fs	CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|RP11-665G4.1_ENST00000513384.1_RNA|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441													7	725	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													7	174	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								18	282	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													8	815	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													12	346	---	---	---	---					
DKK2	27123	broad.mit.edu	37	4	107845256	107845257	+	Frame_Shift_Ins	INS	-	-	C	rs34666785		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:107845256_107845257insC	ENST00000285311.3	-	4	1339_1340	c.634_635insG	c.(634-636)agtfs	p.S212fs	DKK2_ENST00000510463.1_Frame_Shift_Ins_p.S166fs|DKK2_ENST00000513208.1_Frame_Shift_Ins_p.S112fs	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	212	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGTACAGACTTCCCCCTGATGG	0.505													7	479	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	245	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			10	787	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487951	24487952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:24487951_24487952insG	ENST00000264463.4	-	12	2694_2695	c.2187_2188insC	c.(2185-2190)ccacgafs	p.R730fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGAGTCGTAGGGGGGTGCGG	0.460										HNSCC(23;0.051)			9	408	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													7	145	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													17	578	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													9	148	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	339	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													12	243	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													11	125	---	---	---	---					
DHFR	1719	broad.mit.edu	37	5	79950244	79950244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79950244delT	ENST00000439211.2	-	1	558	c.65delA	c.(64-66)gcfs	p.D22fs	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000504396.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	22	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CCAGGGCAGGTCCCCGTTCTT	0.682													19	64	---	---	---	---					
SSBP2	23635	broad.mit.edu	37	5	80716338	80716338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:80716338delC	ENST00000320672.4	-	17	1281	c.1071delG	c.(1069-1071)atfs	p.M357fs	SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_Frame_Shift_Del_p.M327fs|SSBP2_ENST00000505980.1_Frame_Shift_Del_p.M337fs|SSBP2_ENST00000515395.1_Frame_Shift_Del_p.M335fs|SSBP2_ENST00000509053.1_Frame_Shift_Del_p.M294fs	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	357					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CGCTCATTGTCATGCTAGGGG	0.383													36	123	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1230	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132437501	132437501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:132437501delA	ENST00000304858.2	+	17	2377	c.2088delA	c.(2086-2088)ccfs	p.P696fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	696					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAACGACCAAAATTATTTG	0.343													15	47	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													7	215	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													7	87	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													7	178	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													9	364	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													13	256	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													30	1804	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323424	29323425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:29323424_29323425insG	ENST00000377154.1	-	4	847_848	c.548_549insC	c.(547-549)cttfs	p.L183fs	OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183H(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATCAGCAAAGGGGGGATGTC	0.455													7	770	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													12	278	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													21	170	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													10	503	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													11	360	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													9	1212	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					23	341	---	---	---	---					
TAB2	23118	broad.mit.edu	37	6	149700166	149700167	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:149700166_149700167insC	ENST00000367456.1	+	4	1692_1693	c.1115_1116insC	c.(1114-1116)accfs	p.T372fs	TAB2_ENST00000286332.5_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000392282.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.T340fs			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	372					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.S372S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATAGCTGCCAGCCCCCCAAATA	0.495													10	174	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													9	90	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													10	337	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65439604	65439604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:65439604delG	ENST00000304895.4	-	7	1283	c.1153delC	c.(1153-1155)acfs	p.H385fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.H239fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.H334fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	385					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGGGGTAGTGGCTGGTACGG	0.592													13	54	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								9	283	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													9	575	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													9	78	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235724	127235726	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:127235724_127235726delGCA	ENST00000265825.5	+	2	727_729	c.508_510delGCA	c.(508-510)del	p.A171del	FSCN3_ENST00000420086.2_In_Frame_Del_p.A37del	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	171						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCCCT	0.611													31	143	---	---	---	---					
TRBV5-7	28608	broad.mit.edu	37	7	142111844	142111845	+	RNA	DEL	GG	GG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142111844_142111845delGG	ENST00000390378.1	-	0	14_15																											ACCCAGCAGAGGAGCCCGGGGC	0.604													31	50	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													4	8	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:3265561delC	ENST00000520002.1	-	15	2489	c.1934delG	c.(1933-1935)gcfs	p.G645fs	CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G645fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	645	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCAGAAATGCCATCATCCTT	0.458													115	146	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													8	904	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													8	279	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57390530	57390531	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:57390530_57390531insC	ENST00000518662.1	+	0	694																											AATTCCAGTTTCCCCCACACAG	0.376													39	72	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													7	389	---	---	---	---					
KLF10	7071	broad.mit.edu	37	8	103664486	103664487	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:103664486_103664487delTA	ENST00000395884.3	-	2	1044_1045	c.142_143delTA	c.(142-144)cfs	p.Y48fs	KLF10_ENST00000285407.6_Frame_Shift_Del_p.Y59fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	59					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTTTTCAACGTATTTCTTAAAA	0.391											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	141	---	---	---	---					
ENPP2	5168	broad.mit.edu	37	8	120577193	120577193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:120577193delC	ENST00000427067.2	-	24	2377	c.2197delG	c.(2197-2199)tcfs	p.V733fs	ENPP2_ENST00000522826.1_Frame_Shift_Del_p.V737fs|ENPP2_ENST00000522167.1_Frame_Shift_Del_p.V347fs|ENPP2_ENST00000075322.6_Frame_Shift_Del_p.V712fs|ENPP2_ENST00000259486.6_Frame_Shift_Del_p.V764fs			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	712					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAATTCCAGACCCCTGTGCAA	0.383													75	210	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													7	162	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													7	281	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					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)		CGGACCTCGGAGGGGGGAAGAT	0.510													7	475	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35092522	35092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35092522_35092523insC	ENST00000378617.3	-	7	1755_1756	c.1361_1362insG	c.(1360-1362)gacfs	p.D454fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.D454fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCAT	0.594													7	296	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35606843delG	ENST00000336395.5	+	4	650	c.400delG	c.(400-402)ggfs	p.G135fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	135	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTATATGAATGGGGGGACATT	0.577													26	70	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													14	782	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:77377691_77377692insC	ENST00000451710.3	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)actfs	p.T1299fs	TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.480													7	324	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581246	99581246	+	Frame_Shift_Del	DEL	G	G	-	rs35483372		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99581246delG	ENST00000481138.1	-	6	1720	c.1059delC	c.(1057-1059)ttfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACACTGAAAGTTGACT	0.408													165	769	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													8	685	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117187363	117187364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:117187363_117187364insA	ENST00000374059.3	-	1	987_988	c.54_55insT	c.(52-57)ctcccafs	p.LP18fs	DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000362057.3_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	369	Ala/Gly/Ser-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCGTGGGCAAGGGACAGGG	0.535													38	57	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													20	639	---	---	---	---					
TBC1D13	54662	broad.mit.edu	37	9	131559379	131559380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:131559379_131559380insA	ENST00000372648.5	+	7	579_580	c.429_430insA	c.(427-432)tacttgfs	p.Y143fs	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Ins_p.Y143fs|TBC1D13_ENST00000539497.1_5'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCACTGACTACCCTTGCCTCCT	0.510													7	177	---	---	---	---					
MAP3K8	1326	broad.mit.edu	37	10	30728217	30728218	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30728217_30728218delCG	ENST00000375322.2	+	3	739_740	c.350_351delCG	c.(349-351)cfs	p.P117fs	MAP3K8_ENST00000375321.1_Intron|MAP3K8_ENST00000542547.1_Intron|MAP3K8_ENST00000263056.1_Intron			P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	0					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CGTTTCTTTCCGATCAGTTGGG	0.406													18	55	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													8	447	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	56128900	56128900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:56128900delA	ENST00000373965.2	-	5	848	c.454delT	c.(454-456)acfs	p.Y153fs	PCDH15_ENST00000437009.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000373955.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000414778.1_Frame_Shift_Del_p.Y158fs|PCDH15_ENST00000395430.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395438.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000361849.3_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395446.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000320301.6_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395433.1_Frame_Shift_Del_p.Y131fs|PCDH15_ENST00000395445.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000373957.3_Frame_Shift_Del_p.Y131fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	153	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGCATAGTAGCTTTCATGC	0.368										HNSCC(58;0.16)			58	270	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													16	315	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5638-5643)ccccccfs	p.PP1880fs	KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCATGACCCCACCCCCCAACCT	0.535													7	299	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													8	780	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99212032	99212036	+	Frame_Shift_Del	DEL	CCCAC	CCCAC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:99212032_99212036delCCCAC	ENST00000393760.1	+	4	778_782	c.429_433delCCCAC	c.(427-435)taccfs	p.YPP143fs	ZDHHC16_ENST00000352634.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370846.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370842.2_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370854.3_Frame_Shift_Del_p.YPP143fs	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	143					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCCTGGGTACCCACCCCAGGTGGG	0.546													8	51	---	---	---	---					
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(751-756)gtggggfs	p.VG251fs	ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	251					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599													10	331	---	---	---	---					
SFXN2	118980	broad.mit.edu	37	10	104486427	104486428	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:104486427_104486428insC	ENST00000369893.4	+	2	201_202	c.34_35insC	c.(34-36)cccfs	p.P12fs	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	12					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TAACATCGATGCCCCCCGTTGG	0.535													7	275	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													11	242	---	---	---	---					
OR51M1	390059	broad.mit.edu	37	11	5411244	5411244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5411244delT	ENST00000328611.3	+	1	638	c.616delT	c.(616-618)tcfs	p.F206fs	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	206						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATATCACCTTCAATAATCT	0.512													118	430	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													17	955	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-873)accfs	p.T291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406													9	1574	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				8	91	---	---	---	---					
CSTF3	1479	broad.mit.edu	37	11	33106678	33106679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:33106678_33106679insG	ENST00000323959.4	-	21	2247_2248	c.2108_2109insC	c.(2107-2109)cgtfs	p.R703fs	TCP11L1_ENST00000324357.9_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	703					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCATGAACAGGGGGGACAAC	0.520													7	205	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													13	1122	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													66	1687	---	---	---	---					
NUP160	23279	broad.mit.edu	37	11	47861432	47861433	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:47861432_47861433insC	ENST00000378460.2	-	4	756_757	c.710_711insG	c.(709-711)gatfs	p.D237fs	NUP160_ENST00000530326.1_Frame_Shift_Ins_p.D123fs|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Ins_p.D123fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	237					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GAACAAAGATTCCCCCAGAAGC	0.450													10	2273	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													7	963	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													8	408	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													10	89	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								7	365	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													17	1274	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113235648	113235649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113235648_113235649insA	ENST00000529221.1	+	21	2013_2014	c.1908_1909insA	c.(1906-1911)ccacgtfs	p.R637fs	TTC12_ENST00000483239.2_Frame_Shift_Ins_p.R643fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.R637fs|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	637							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGAGGTGCCCAACGTTGCGTC	0.559													18	579	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113860407	113860407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113860407delA	ENST00000504030.2	+	9	1804	c.1359delA	c.(1357-1359)ctfs	p.L453fs	HTR3A_ENST00000299961.5_Frame_Shift_Del_p.L438fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.L197fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.L459fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.L485fs|HTR3A_ENST00000355556.2_Frame_Shift_Del_p.L491fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	453					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAAGCTGCTATTCCACATTT	0.592													59	324	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													17	367	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													11	309	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													13	620	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20522956	20522956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:20522956delG	ENST00000359062.3	+	1	778	c.738delG	c.(736-738)gtfs	p.V246fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	246					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGGCGTGCTGGGGATCC	0.607													7	14	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													10	2951	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794773	55794773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55794773delT	ENST00000379665.2	+	1	560	c.461delT	c.(460-462)atfs	p.I154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTCTCATTATTTTTCCCCCC	0.433													10	170	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945160	55945160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55945160delC	ENST00000394256.2	+	1	178	c.150delC	c.(148-150)gafs	p.D50fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACTAGACCCCCACCTCC	0.418													74	566	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								15	524	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	A	-	rs35015855		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400665delA	ENST00000397909.2	+	8	1520	c.1347delA	c.(1345-1347)ccfs	p.P449fs	NAV3_ENST00000266692.7_Frame_Shift_Del_p.P449fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P449fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.P449fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						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						TGGCCCCTCCAAAAGCTGGAA	0.398										HNSCC(70;0.22)			54	120	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													11	324	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													7	953	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)ctcfs	p.L722fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L972fs					HECT domain containing E3 ubiquitin protein ligase 4																		AATTTAAGGAAGGGGGGGAAAT	0.396													8	200	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													10	142	---	---	---	---					
HNF1A	6927	broad.mit.edu	37	12	121432117	121432118	+	Frame_Shift_Ins	INS	-	-	C	rs56348580	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:121432117_121432118insC	ENST00000257555.6	+	4	1090_1091	c.864_865insC	c.(862-867)ggccccfs	p.GP288fs	HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.GP171fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.GP288fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	288					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGTACAGCGGGCCCCCCCCAGG	0.663									Hepatic Adenoma, Familial Clustering of				9	19	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25169014	25169015	+	RNA	INS	-	-	TAG			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:25169014_25169015insTAG	ENST00000453498.1	+	0	1173																											actgactggaaagagagttagg	0.470													5	5	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)ccaaagfs	p.PK121fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	121						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366													9	279	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													15	439	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						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)		TCACGTTGAGAGGGGGGCGTGA	0.450													7	1106	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436													10	751	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	617	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		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)		CAGCTGCCACACCCCCCCACTC	0.584													15	304	---	---	---	---					
OR4E2	26686	broad.mit.edu	37	14	22133745	22133746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22133745_22133746insG	ENST00000408935.1	+	1	449_450	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCTCTCTGGTTGGGGGGTACTG	0.480													9	557	---	---	---	---					
TRAV10	28676	broad.mit.edu	37	14	22293965	22293980	+	RNA	DEL	CCAAGTGGAGCAGAGT	CCAAGTGGAGCAGAGT	-	rs147582086	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22293965_22293980delCCAAGTGGAGCAGAGT	ENST00000390432.2	+	0	105_120																											ATGGCAAAAACCAAGTGGAGCAGAGTCCTCAGTCCC	0.440													11	162	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													15	763	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35596756	35596769	+	Frame_Shift_Del	DEL	AGGGAAAAATCATG	AGGGAAAAATCATG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:35596756_35596769delAGGGAAAAATCATG	ENST00000557565.1	+	4	1487_1500	c.1106_1119delAGGGAAAAATCATG	c.(1105-1119)afs	p.KGKIM369fs	KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.KGKIM353fs|KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000605870.1_Start_Codon_Del|KIAA0391_ENST00000604948.1_Frame_Shift_Del_p.KGKIM274fs|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.KGKIM353fs|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.KGKIM369fs|KIAA0391_ENST00000250377.7_Frame_Shift_Del_p.KGKIM274fs			O15091	MRRP3_HUMAN	KIAA0391	369					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GAATGTCTTAAGGGAAAAATCATGAGGGATGTGA	0.388													8	273	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:64606758delG	ENST00000357395.3	+	81	15242	c.4098delG	c.(4096-4098)ttfs	p.L1366fs	SYNE2_ENST00000344113.4_Frame_Shift_Del_p.L4981fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L4898fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L4981fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L1615fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L1366fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCAGGACTTGGATACAATCA	0.358													222	235	---	---	---	---					
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs149471226		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1041)gggfs	p.G347fs	CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta									p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599													12	108	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													16	1537	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													12	768	---	---	---	---					
NPC2	10577	broad.mit.edu	37	14	74947387	74947388	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:74947387_74947388insC	ENST00000557510.1	-	4	530_531	c.458_459insG	c.(457-459)ggafs	p.G153fs	NPC2_ENST00000238633.2_Intron|NPC2_ENST00000555619.1_Intron|NPC2_ENST00000541064.1_Intron|NPC2_ENST00000434013.2_Intron			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	0					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ATGCCCTCTCACCCCCAGATAG	0.450													8	850	---	---	---	---					
ZC3H14	79882	broad.mit.edu	37	14	89069237	89069238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:89069237_89069238insC	ENST00000251038.5	+	12	1805_1806	c.1580_1581insC	c.(1579-1581)accfs	p.T527fs	ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	527						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.470													8	288	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													20	727	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31355449	31355450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:31355449_31355450insC	ENST00000542188.1	-	7	1200_1201	c.887_888insG	c.(886-888)gccfs	p.A296fs	TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	257					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCAC	0.614													9	268	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42731523	42731524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:42731523_42731524insC	ENST00000263805.4	-	8	4508_4509	c.4182_4183insG	c.(4180-4185)ggaagtfs	p.S1395fs	ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.S580fs|ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.S623fs	NM_022473.1	NP_071918.1			zinc finger protein 106																		GTTGTTACTTTCCCCCCTTTAA	0.465													8	371	---	---	---	---					
RORA	6095	broad.mit.edu	37	15	60919560	60919561	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:60919560_60919561insC	ENST00000261523.5	-	1	101_102	c.13_14insG	c.(13-15)cccfs	p.P5fs	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000335670.6_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Frame_Shift_Ins_p.P5fs|RORA_ENST00000560004.1_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	5	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCTCCTGGGGCCCCCTCATTC	0.540													7	459	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													8	121	---	---	---	---					
CSNK1G1	53944	broad.mit.edu	37	15	64499783	64499783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:64499783delC	ENST00000303052.7	-	7	1113	c.690delG	c.(688-690)cgfs	p.R231fs	CTD-2116N17.1_ENST00000606793.1_Frame_Shift_Del_p.R213fs|CSNK1G1_ENST00000607537.1_Frame_Shift_Del_p.R231fs|CSNK1G1_ENST00000303032.6_Frame_Shift_Del_p.R231fs	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	231	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AATCATCTCTCCGGCTTTGCT	0.453													60	141	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)gggfs	p.G1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411													9	449	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													10	791	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	270	---	---	---	---					
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:58030897delC	ENST00000299237.2	-	2	1895	c.1273delG	c.(1273-1275)agfs	p.E425fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGGCCGCTCGGCCGCGCCG	0.662													3	4	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													13	432	---	---	---	---					
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)cccfs	p.P301fs	WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564													9	665	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													8	574	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279284	20279284	+	RNA	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:20279284delC	ENST00000578315.1	-	0	263																											CAGGTCCTTTCCCCCATCTCT	0.612													12	29	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000361253.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				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)	TAATCTGGATGCCCCCCAGCTG	0.495													10	563	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													7	219	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													8	466	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42157800_42157801insG	ENST00000225983.6	-	22	3119_3120	c.2796_2797insC	c.(2794-2799)ccttggfs	p.W933fs	HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609													7	121	---	---	---	---					
ABCC3	8714	broad.mit.edu	37	17	48746263	48746264	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48746263_48746264insC	ENST00000285238.8	+	15	2000_2001	c.1920_1921insC	c.(1918-1923)ctccccfs	p.LP640fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	640	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCAGGACCTGCCCCCCACTCT	0.609													7	189	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													18	1320	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													7	798	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													21	1291	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													10	220	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28576866	28576867	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:28576866_28576867insC	ENST00000434452.1	-	15	2537_2538	c.2383_2384insG	c.(2383-2385)tggfs	p.W795fs	DSC3_ENST00000360428.4_Frame_Shift_Ins_p.W795fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	795					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGCCCAGCCCCCCGGCAG	0.515													9	174	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47802344	47802344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:47802344delC	ENST00000591416.1	-	7	955	c.524delG	c.(523-525)gcfs	p.G175fs	MBD1_ENST00000353909.3_Intron|MBD1_ENST00000457839.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.G175fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.G175fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.G201fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.G175fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.G175fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000590208.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.G175fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	175					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCCCACAGCCCACACGCTG	0.617													13	43	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358470	54358471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:54358470_54358471insT	ENST00000254442.3	+	8	952_953	c.741_742insT	c.(739-744)tctgttfs	p.V248fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.V248fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	248										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAGACTATTCCTTGTTGTGTTC	0.401													37	198	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547767	63547767	+	Frame_Shift_Del	DEL	G	G	-	rs150661165		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:63547767delG	ENST00000397968.2	+	12	2421	c.1995delG	c.(1993-1995)gcfs	p.A665fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A665fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	665					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACACGGAAGCGTTTGACATGG	0.488													29	95	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8175742	8175743	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:8175742_8175743insC	ENST00000600128.1	-	34	4733_4734	c.4319_4320insG	c.(4318-4320)gggfs	p.G1440fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G1440fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G1440fs			Q75N90	FBN3_HUMAN	fibrillin 3	1440	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCAGTTGCCACCCCCTCGGTC	0.599													8	466	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													10	325	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11138587_11138588insA	ENST00000358026.2	+	24	3627_3628	c.3343_3344insA	c.(3343-3345)cttfs	p.L1115fs	SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.L1115fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1115	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATGGAAGATTACTTTGCGTAT	0.465			"""F, N, Mis"""		NSCLC								24	52	---	---	---	---					
LDLR	3949	broad.mit.edu	37	19	11238690	11238691	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11238690_11238691delGC	ENST00000558518.1	+	16	2505_2506	c.2318_2319delGC	c.(2317-2319)gfs	p.G773fs	LDLR_ENST00000558013.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000545707.1_Frame_Shift_Del_p.G595fs|LDLR_ENST00000535915.1_Frame_Shift_Del_p.G732fs|LDLR_ENST00000557933.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000455727.2_Frame_Shift_Del_p.G605fs|LDLR_ENST00000560628.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	773					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCAGCTCTGGGCGACGTTGCTG	0.624													9	42	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													9	239	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													14	557	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	371	---	---	---	---					
PPFIA3	8541	broad.mit.edu	37	19	49646213	49646225	+	Frame_Shift_Del	DEL	GGAGATGGTCTCG	GGAGATGGTCTCG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49646213_49646225delGGAGATGGTCTCG	ENST00000334186.4	+	21	3046_3058	c.2697_2709delGGAGATGGTCTCG	c.(2695-2709)cafs	p.QEMVS899fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.QEMVS899fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	899	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC	0.648													17	78	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													12	190	---	---	---	---					
ZNF749	388567	broad.mit.edu	37	19	57955493	57955505	+	Frame_Shift_Del	DEL	ATGAATGCAACAA	ATGAATGCAACAA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57955493_57955505delATGAATGCAACAA	ENST00000334181.4	+	3	1227_1239	c.977_989delATGAATGCAACAA	c.(976-990)tgfs	p.YECNK326fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAACAGCCCTATGAATGCAACAAGTGTGGGAAG	0.451													7	458	---	---	---	---					
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	CCCGGGA	-	rs144536843	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58565262_58565268delCCCGGGA	ENST00000282326.1	+	6	1317_1323	c.1070_1076delCCCGGGA	c.(1069-1077)cgfs	p.PRE357fs		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGGGCCCCCGGGAGTCCGTCCCA	0.657													10	16	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													8	179	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													7	1000	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													41	525	---	---	---	---					
BPIFA1	51297	broad.mit.edu	37	20	31829196	31829197	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:31829196_31829197insC	ENST00000354297.4	+	6	658_659	c.587_588insC	c.(586-588)gccfs	p.A196fs	BPIFA1_ENST00000375422.2_Frame_Shift_Ins_p.A196fs|BPIFA1_ENST00000375413.4_Frame_Shift_Ins_p.A196fs	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	196					innate immune response	extracellular region	lipid binding										TTCAGACTTGGCCCCCTCCCCA	0.545													7	1203	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													13	240	---	---	---	---					
SEMG1	6406	broad.mit.edu	37	20	43836371	43836371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43836371delG	ENST00000372781.3	+	2	490	c.433delG	c.(433-435)atfs	p.D145fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.D145fs	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCTTCTCAAGATCAGGGGAA	0.418													143	300	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													16	410	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)tgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323													9	223	---	---	---	---					
AP001347.6	0	broad.mit.edu	37	21	15399926	15399927	+	RNA	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15399926_15399927insG	ENST00000428809.1	+	0	177																											ATGGTGAGTGTGGGGGGCAGGG	0.604													11	473	---	---	---	---					
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31691917_31691918insG	ENST00000360542.3	-	1	689_690	c.436_437insC	c.(436-438)attfs	p.I146fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	146						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGCAGAATTGGGGGCGATAG	0.550													9	833	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													11	200	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				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	p.E1093K(1)		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)				TGGACATTTTCGGGGGGGTAAC	0.406													15	1017	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													13	208	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													15	352	---	---	---	---					
RP1-288L1.4	0	broad.mit.edu	37	22	35111781	35111783	+	RNA	DEL	TCC	TCC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:35111781_35111783delTCC	ENST00000440858.1	-	0	64																											ctcctcttcttcctcctcctcct	0.567													4	4	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													13	640	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.480													7	983	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	77	---	---	---	---					
FIGF	2277	broad.mit.edu	37	X	15373323	15373324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:15373323_15373324insG	ENST00000297904.3	-	4	1018_1019	c.589_590insC	c.(589-591)ccafs	p.P197fs		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	197					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GTATGGATGGCGGGGGGCTGTT	0.406													9	317	---	---	---	---					
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:27997961_27997962delCG	ENST00000441525.1	-	1	1604_1605	c.1490_1491delCG	c.(1489-1491)gfs	p.A497fs		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497								p.A497V(1)|p.A497G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCACTGGTCGCCAACACAGG	0.485													58	115	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													8	124	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													10	464	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													9	543	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													9	628	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977860	107977861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107977860_107977861insA	ENST00000372129.2	-	1	1790_1791	c.1714_1715insT	c.(1714-1716)tggfs	p.W572fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	572						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCCTGGCCACCACCTGAGCCA	0.629													12	44	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													7	172	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)gggfs	p.G2570fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.530													13	1671	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27097629	27097629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27097629delG	ENST00000324856.7	+	12	3589	c.3218delG	c.(3217-3219)tgfs	p.W1073fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.W1073fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.W690fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1073	ARID.				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)		AACAAAAAATGGCGGGAACTT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	27	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:40777384delC	ENST00000372748.3	-	9	517	c.421delG	c.(421-423)acfs	p.D141fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX		p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622													43	59	---	---	---	---					
WLS	79971	broad.mit.edu	37	1	68624901	68624901	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:68624901delA	ENST00000262348.4	-	3	662	c.409delT	c.(409-411)ccfs	p.S137fs	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Frame_Shift_Del_p.S135fs|WLS_ENST00000540432.1_Frame_Shift_Del_p.S137fs|WLS_ENST00000370976.3_Frame_Shift_Del_p.S46fs|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	137	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TAAGCCAGGGAAACGTCCATG	0.438													11	54	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86919069	86919070	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86919069_86919070delGC	ENST00000370565.4	+	13	2335_2336	c.2173_2174delGC	c.(2173-2175)tfs	p.A725fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	725					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGATGAATGCTCCAAGGAAA	0.436													9	35	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:51255156_51255157delCG	ENST00000404971.1	-	2	1594_1595	c.255_256delCG	c.(253-258)cggcfs	p.RG85fs	NRXN1_ENST00000405472.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405581.1_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.RG85fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	85	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGCGGCCGCCGCGCGTCAGAA	0.663													12	10	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:9100069delC	ENST00000383836.3	-	7	1316	c.889delG	c.(889-891)aafs	p.E297fs	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.E297fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552			T	RAF1	pilocytic astrocytoma								35	119	---	---	---	---					
MKRN2	23609	broad.mit.edu	37	3	12623348	12623349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12623348_12623349insC	ENST00000170447.7	+	7	1147_1148	c.1010_1011insC	c.(1009-1011)tccfs	p.S337fs	MKRN2_ENST00000411987.1_Frame_Shift_Ins_p.S294fs|MKRN2_ENST00000448482.1_Frame_Shift_Ins_p.S335fs	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	337						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AAGGGGACCTGCCCATTTGGAA	0.495													33	99	---	---	---	---					
ROBO1	6091	broad.mit.edu	37	3	78988050	78988050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:78988050delG	ENST00000436010.2	-	2	1080	c.83delC	c.(82-84)cafs	p.P29fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.P29fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.P29fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.P68fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	68					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATGCGAGGTGGAAAATCTTC	0.433													8	41	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880881	137880881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:137880881delC	ENST00000260803.4	-	8	1638	c.1485delG	c.(1483-1485)ggfs	p.G495fs	DBR1_ENST00000505015.2_Frame_Shift_Del_p.G261fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	495						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACTCCACAGTCCCACCAGGTT	0.453													23	75	---	---	---	---					
DHFR	1719	broad.mit.edu	37	5	79950244	79950244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79950244delT	ENST00000439211.2	-	1	558	c.65delA	c.(64-66)gcfs	p.D22fs	DHFR_ENST00000505337.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	22	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CCAGGGCAGGTCCCCGTTCTT	0.682													14	36	---	---	---	---					
FAM172A	83989	broad.mit.edu	37	5	92956752	92956757	+	In_Frame_Del	DEL	TGGTCT	TGGTCT	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:92956752_92956757delTGGTCT	ENST00000395965.3	-	11	1329_1334	c.1187_1192delAGACCA	c.(1186-1194)agc>a	p.KTS396del	FAM172A_ENST00000509739.1_In_Frame_Del_p.KTS249del|FAM172A_ENST00000509163.1_In_Frame_Del_p.KTS350del|FAM172A_ENST00000505869.1_In_Frame_Del_p.KTS286del	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	396						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TTCAGGGAGCTGGTCTTGGCCTCTGA	0.597													8	54	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132437501	132437501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:132437501delA	ENST00000304858.2	+	17	2377	c.2088delA	c.(2086-2088)ccfs	p.P696fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	696					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAACGACCAAAATTATTTG	0.343													7	21	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)cag>ca	p.HQ211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665													23	9	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65439604	65439604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:65439604delG	ENST00000304895.4	-	7	1283	c.1153delC	c.(1153-1155)acfs	p.H385fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.H239fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.H334fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	385					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGGGGTAGTGGCTGGTACGG	0.592													16	76	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235724	127235726	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:127235724_127235726delGCA	ENST00000265825.5	+	2	727_729	c.508_510delGCA	c.(508-510)del	p.A171del	FSCN3_ENST00000420086.2_In_Frame_Del_p.A37del	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	171						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCCCT	0.611													11	75	---	---	---	---					
TRBV5-7	28608	broad.mit.edu	37	7	142111844	142111845	+	RNA	DEL	GG	GG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142111844_142111845delGG	ENST00000390378.1	-	0	14_15																											ACCCAGCAGAGGAGCCCGGGGC	0.604													17	18	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:3265561delC	ENST00000520002.1	-	15	2489	c.1934delG	c.(1933-1935)gcfs	p.G645fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G645fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	645	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCAGAAATGCCATCATCCTT	0.458													10	13	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57390530	57390531	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:57390530_57390531insC	ENST00000518662.1	+	0	694																											AATTCCAGTTTCCCCCACACAG	0.376													25	38	---	---	---	---					
KLF10	7071	broad.mit.edu	37	8	103664486	103664487	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:103664486_103664487delTA	ENST00000395884.3	-	2	1044_1045	c.142_143delTA	c.(142-144)cfs	p.Y48fs	KLF10_ENST00000285407.6_Frame_Shift_Del_p.Y59fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	59					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTTTTCAACGTATTTCTTAAAA	0.391											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	79	---	---	---	---					
ENPP2	5168	broad.mit.edu	37	8	120577193	120577193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:120577193delC	ENST00000427067.2	-	24	2377	c.2197delG	c.(2197-2199)tcfs	p.V733fs	ENPP2_ENST00000075322.6_Frame_Shift_Del_p.V712fs|ENPP2_ENST00000259486.6_Frame_Shift_Del_p.V764fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.V737fs|ENPP2_ENST00000522167.1_Frame_Shift_Del_p.V347fs			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	712					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAATTCCAGACCCCTGTGCAA	0.383													7	27	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35606843delG	ENST00000336395.5	+	4	650	c.400delG	c.(400-402)ggfs	p.G135fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	135	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTATATGAATGGGGGGACATT	0.577													12	68	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581246	99581246	+	Frame_Shift_Del	DEL	G	G	-	rs35483372		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99581246delG	ENST00000481138.1	-	6	1720	c.1059delC	c.(1057-1059)ttfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACACTGAAAGTTGACT	0.408													27	84	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117187363	117187364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:117187363_117187364insA	ENST00000374059.3	-	1	987_988	c.54_55insT	c.(52-57)ctcccafs	p.LP18fs	DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000362057.3_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	369	Ala/Gly/Ser-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCGTGGGCAAGGGACAGGG	0.535													20	25	---	---	---	---					
MAP3K8	1326	broad.mit.edu	37	10	30728217	30728218	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30728217_30728218delCG	ENST00000375322.2	+	3	739_740	c.350_351delCG	c.(349-351)cfs	p.P117fs	MAP3K8_ENST00000263056.1_Intron|MAP3K8_ENST00000375321.1_Intron|MAP3K8_ENST00000542547.1_Intron			P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	0					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CGTTTCTTTCCGATCAGTTGGG	0.406													13	37	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99212032	99212036	+	Frame_Shift_Del	DEL	CCCAC	CCCAC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:99212032_99212036delCCCAC	ENST00000393760.1	+	4	778_782	c.429_433delCCCAC	c.(427-435)taccfs	p.YPP143fs	ZDHHC16_ENST00000353979.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000352634.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370846.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370842.2_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370854.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	143					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCCTGGGTACCCACCCCAGGTGGG	0.546													11	92	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509593	102509593	+	Frame_Shift_Del	DEL	C	C	-	rs76675173		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102509593delC	ENST00000370296.2	+	2	684	c.134delC	c.(133-135)gcfs	p.A45fs	PAX2_ENST00000361791.3_Frame_Shift_Del_p.A45fs|PAX2_ENST00000428433.1_Frame_Shift_Del_p.A45fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Frame_Shift_Del_p.A44fs|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A45fs			Q02962	PAX2_HUMAN	paired box 2	45	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GTGGAGCTGGCCCACCAGGGT	0.687													9	68	---	---	---	---					
OR51M1	390059	broad.mit.edu	37	11	5411244	5411244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5411244delT	ENST00000328611.3	+	1	638	c.616delT	c.(616-618)tcfs	p.F206fs	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	206						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATATCACCTTCAATAATCT	0.512													18	86	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113860407	113860407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113860407delA	ENST00000504030.2	+	9	1804	c.1359delA	c.(1357-1359)ctfs	p.L453fs	HTR3A_ENST00000299961.5_Frame_Shift_Del_p.L438fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.L197fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.L459fs|HTR3A_ENST00000355556.2_Frame_Shift_Del_p.L491fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.L485fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	453					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAAGCTGCTATTCCACATTT	0.592													22	113	---	---	---	---					
CACNA1C	775	broad.mit.edu	37	12	2659197	2659197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:2659197delG	ENST00000399655.1	+	10	1744	c.1479delG	c.(1477-1479)ctfs	p.L493fs	CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.L518fs|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.L493fs	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCAGGCTGGCGTGAGTAG	0.592													2	4	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20522956	20522956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:20522956delG	ENST00000359062.3	+	1	778	c.738delG	c.(736-738)gtfs	p.V246fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	246					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGGCGTGCTGGGGATCC	0.607													14	50	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945160	55945160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55945160delC	ENST00000394256.2	+	1	178	c.150delC	c.(148-150)gafs	p.D50fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACTAGACCCCCACCTCC	0.418													17	111	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	A	-	rs35015855		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400665delA	ENST00000397909.2	+	8	1520	c.1347delA	c.(1345-1347)ccfs	p.P449fs	NAV3_ENST00000266692.7_Frame_Shift_Del_p.P449fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P449fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.P449fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						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						TGGCCCCTCCAAAAGCTGGAA	0.398										HNSCC(70;0.22)			33	49	---	---	---	---					
ARHGEF7	8874	broad.mit.edu	37	13	111767915	111767915	+	Frame_Shift_Del	DEL	G	G	-	rs144455445		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:111767915delG	ENST00000375741.2	+	1	292	c.42delG	c.(40-42)ctfs	p.L14fs	ARHGEF7_ENST00000370623.3_Frame_Shift_Del_p.L14fs|ARHGEF7-AS2_ENST00000425094.2_RNA|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.L14fs|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.L14fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	14	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATCACTCTGGGGGTGCTGG	0.682													14	46	---	---	---	---					
CPNE6	9362	broad.mit.edu	37	14	24546933	24546933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24546933delC	ENST00000397016.2	+	17	1979	c.1668delC	c.(1666-1668)agfs	p.S556fs	CPNE6_ENST00000537691.1_Frame_Shift_Del_p.S611fs|CPNE6_ENST00000216775.2_Frame_Shift_Del_p.S556fs			O95741	CPNE6_HUMAN	copine VI (neuronal)	556					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCAGCCCTAGCCCGTGACTGC	0.657													9	49	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:64606758delG	ENST00000357395.3	+	81	15242	c.4098delG	c.(4096-4098)ttfs	p.L1366fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L4898fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L4981fs|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L1615fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L1366fs|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.L4981fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCAGGACTTGGATACAATCA	0.358													39	59	---	---	---	---					
ULK4P2	100288380	broad.mit.edu	37	15	30875077	30875078	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:30875077_30875078insC	ENST00000569682.1	+	0	173																											CTCAAAAGTTTTTTTTTTTTTT	0.297													9	22	---	---	---	---					
CSNK1G1	53944	broad.mit.edu	37	15	64499783	64499783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:64499783delC	ENST00000303052.7	-	7	1113	c.690delG	c.(688-690)cgfs	p.R231fs	CTD-2116N17.1_ENST00000606793.1_Frame_Shift_Del_p.R213fs|CSNK1G1_ENST00000303032.6_Frame_Shift_Del_p.R231fs|CSNK1G1_ENST00000607537.1_Frame_Shift_Del_p.R231fs	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	231	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AATCATCTCTCCGGCTTTGCT	0.453													13	32	---	---	---	---					
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:58030897delC	ENST00000299237.2	-	2	1895	c.1273delG	c.(1273-1275)agfs	p.E425fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGGCCGCTCGGCCGCGCCG	0.662													17	26	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279284	20279284	+	RNA	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:20279284delC	ENST00000578315.1	-	0	263																											CAGGTCCTTTCCCCCATCTCT	0.612													6	9	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358470	54358471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:54358470_54358471insT	ENST00000254442.3	+	8	952_953	c.741_742insT	c.(739-744)tctgttfs	p.V248fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.V248fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	248										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAGACTATTCCTTGTTGTGTTC	0.401													16	66	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547767	63547767	+	Frame_Shift_Del	DEL	G	G	-	rs150661165		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:63547767delG	ENST00000397968.2	+	12	2421	c.1995delG	c.(1993-1995)gcfs	p.A665fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A665fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	665					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACACGGAAGCGTTTGACATGG	0.488													10	29	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11138587_11138588insA	ENST00000358026.2	+	24	3627_3628	c.3343_3344insA	c.(3343-3345)cttfs	p.L1115fs	SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.L1115fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1115	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATGGAAGATTACTTTGCGTAT	0.465			"""F, N, Mis"""		NSCLC								101	126	---	---	---	---					
LDLR	3949	broad.mit.edu	37	19	11238690	11238691	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11238690_11238691delGC	ENST00000558518.1	+	16	2505_2506	c.2318_2319delGC	c.(2317-2319)gfs	p.G773fs	LDLR_ENST00000558013.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000535915.1_Frame_Shift_Del_p.G732fs|LDLR_ENST00000557933.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000545707.1_Frame_Shift_Del_p.G595fs|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Frame_Shift_Del_p.G605fs	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	773					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCAGCTCTGGGCGACGTTGCTG	0.624													10	78	---	---	---	---					
PPFIA3	8541	broad.mit.edu	37	19	49646213	49646225	+	Frame_Shift_Del	DEL	GGAGATGGTCTCG	GGAGATGGTCTCG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49646213_49646225delGGAGATGGTCTCG	ENST00000334186.4	+	21	3046_3058	c.2697_2709delGGAGATGGTCTCG	c.(2695-2709)cafs	p.QEMVS899fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.QEMVS899fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	899	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC	0.648													24	92	---	---	---	---					
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	CCCGGGA	-	rs144536843	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58565262_58565268delCCCGGGA	ENST00000282326.1	+	6	1317_1323	c.1070_1076delCCCGGGA	c.(1069-1077)cgfs	p.PRE357fs		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGGGCCCCCGGGAGTCCGTCCCA	0.657													22	34	---	---	---	---					
SEMG1	6406	broad.mit.edu	37	20	43836371	43836371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43836371delG	ENST00000372781.3	+	2	490	c.433delG	c.(433-435)atfs	p.D145fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.D145fs	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCTTCTCAAGATCAGGGGAA	0.418													23	54	---	---	---	---					
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:27997961_27997962delCG	ENST00000441525.1	-	1	1604_1605	c.1490_1491delCG	c.(1489-1491)gfs	p.A497fs		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497								p.A497V(1)|p.A497G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCACTGGTCGCCAACACAGG	0.485													12	26	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977860	107977861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107977860_107977861insA	ENST00000372129.2	-	1	1790_1791	c.1714_1715insT	c.(1714-1716)tggfs	p.W572fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	572						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCCTGGCCACCACCTGAGCCA	0.629													65	156	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8073803	8073804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:8073803_8073804insG	ENST00000377482.5	-	4	1078_1079	c.855_856insC	c.(853-858)ccgagtfs	p.S286fs	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	286					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGAACTCTGGGGGGAACCT	0.475													7	288	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259961	16259973	+	Frame_Shift_Del	DEL	AGAATTCGTCCCA	AGAATTCGTCCCA	-	rs149855157	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:16259961_16259973delAGAATTCGTCCCA	ENST00000375759.3	+	11	7430_7442	c.7226_7238delAGAATTCGTCCCA	c.(7225-7239)gafs	p.ENSSQ2409fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2409	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCCACAGAGAATTCGTCCCAAGAAATCAGT	0.554													10	78	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27097629	27097629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:27097629delG	ENST00000324856.7	+	12	3589	c.3218delG	c.(3217-3219)tgfs	p.W1073fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.W1073fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.W690fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1073	ARID.				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)		AACAAAAAATGGCGGGAACTT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								54	77	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:40777384delC	ENST00000372748.3	-	9	517	c.421delG	c.(421-423)acfs	p.D141fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX		p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622													7	20	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86919069	86919070	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86919069_86919070delGC	ENST00000370565.4	+	13	2335_2336	c.2173_2174delGC	c.(2173-2175)tfs	p.A725fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	725					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGATGAATGCTCCAAGGAAA	0.436													18	85	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													7	121	---	---	---	---					
FAM78B	149297	broad.mit.edu	37	1	166039571	166039572	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:166039571_166039572insG	ENST00000338353.3	-	3	1281_1282	c.692_693insC	c.(691-693)caafs	p.Q231fs	FAM78B_ENST00000354422.3_Frame_Shift_Ins_p.Q231fs			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	231										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTAGTGCATTAGGGGGGATGGG	0.619													9	551	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169838144	169838155	+	In_Frame_Del	DEL	AAGGTCTGTTGA	AAGGTCTGTTGA	-	rs142479162		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:169838144_169838155delAAGGTCTGTTGA	ENST00000367772.4	-	7	848_859	c.651_662delTCAACAGACCTT	c.(649-663)ttg>tt	p.FQQTL217del	SCYL3_ENST00000367770.1_In_Frame_Del_p.FQQTL217del|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_In_Frame_Del_p.FQQTL217del	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	217	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.T220T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTTGAGTGCAAGGTCTGTTGAAAGCTGGAGA	0.495													9	83	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:51255156_51255157delCG	ENST00000404971.1	-	2	1594_1595	c.255_256delCG	c.(253-258)cggcfs	p.RG85fs	NRXN1_ENST00000401669.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405581.1_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.RG85fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	85	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGCGGCCGCCGCGCGTCAGAA	0.663													5	7	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													8	1354	---	---	---	---					
HOXD11	3237	broad.mit.edu	37	2	176973637	176973638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:176973637_176973638insC	ENST00000249504.5	+	2	854_855	c.784_785insC	c.(784-786)cccfs	p.P262fs	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTTGCAGTTGCCCCCCAGCGG	0.619			T	NUP98	AML								8	189	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:9100069delC	ENST00000383836.3	-	7	1316	c.889delG	c.(889-891)aafs	p.E297fs	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.E297fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552			T	RAF1	pilocytic astrocytoma								163	487	---	---	---	---					
MKRN2	23609	broad.mit.edu	37	3	12623348	12623349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:12623348_12623349insC	ENST00000170447.7	+	7	1147_1148	c.1010_1011insC	c.(1009-1011)tccfs	p.S337fs	MKRN2_ENST00000448482.1_Frame_Shift_Ins_p.S335fs|MKRN2_ENST00000411987.1_Frame_Shift_Ins_p.S294fs	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	337						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AAGGGGACCTGCCCATTTGGAA	0.495													98	308	---	---	---	---					
SNRK	54861	broad.mit.edu	37	3	43345163	43345166	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:43345163_43345166delGACA	ENST00000296088.7	+	3	772_775	c.468_471delGACA	c.(466-471)ttfs	p.LT156fs	SNRK_ENST00000429705.2_Frame_Shift_Del_p.LT156fs|SNRK_ENST00000454177.1_Frame_Shift_Del_p.LT156fs|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	156	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTAAAGTTGACAGACTTTGGGT	0.397													23	179	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880881	137880881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:137880881delC	ENST00000260803.4	-	8	1638	c.1485delG	c.(1483-1485)ggfs	p.G495fs	DBR1_ENST00000505015.2_Frame_Shift_Del_p.G261fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	495						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACTCCACAGTCCCACCAGGTT	0.453													86	404	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													12	32	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487951	24487952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:24487951_24487952insG	ENST00000264463.4	-	12	2694_2695	c.2187_2188insC	c.(2185-2190)ccacgafs	p.R730fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGAGTCGTAGGGGGGTGCGG	0.460										HNSCC(23;0.051)			9	408	---	---	---	---					
DHFR	1719	broad.mit.edu	37	5	79950244	79950244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79950244delT	ENST00000439211.2	-	1	558	c.65delA	c.(64-66)gcfs	p.D22fs	DHFR_ENST00000511032.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	22	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CCAGGGCAGGTCCCCGTTCTT	0.682													19	64	---	---	---	---					
SSBP2	23635	broad.mit.edu	37	5	80716338	80716338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:80716338delC	ENST00000320672.4	-	17	1281	c.1071delG	c.(1069-1071)atfs	p.M357fs	SSBP2_ENST00000505980.1_Frame_Shift_Del_p.M337fs|SSBP2_ENST00000514493.1_Frame_Shift_Del_p.M327fs|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000515395.1_Frame_Shift_Del_p.M335fs|SSBP2_ENST00000509053.1_Frame_Shift_Del_p.M294fs	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	357					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CGCTCATTGTCATGCTAGGGG	0.383													36	123	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132437501	132437501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:132437501delA	ENST00000304858.2	+	17	2377	c.2088delA	c.(2086-2088)ccfs	p.P696fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	696					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAACGACCAAAATTATTTG	0.343													15	47	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													7	215	---	---	---	---					
PGK2	5232	broad.mit.edu	37	6	49753782	49753783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr6:49753782_49753783insC	ENST00000304801.3	-	1	1270_1271	c.1118_1119insG	c.(1117-1119)gggfs	p.G373fs		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	373					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CAGTGTCTCCACCCCCTATAAC	0.480													7	751	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65439604	65439604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:65439604delG	ENST00000304895.4	-	7	1283	c.1153delC	c.(1153-1155)acfs	p.H385fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.H239fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.H334fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	385					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGGGGTAGTGGCTGGTACGG	0.592													13	54	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235724	127235726	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:127235724_127235726delGCA	ENST00000265825.5	+	2	727_729	c.508_510delGCA	c.(508-510)del	p.A171del	FSCN3_ENST00000420086.2_In_Frame_Del_p.A37del	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	171						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCCCT	0.611													31	143	---	---	---	---					
TRBV5-7	28608	broad.mit.edu	37	7	142111844	142111845	+	RNA	DEL	GG	GG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142111844_142111845delGG	ENST00000390378.1	-	0	14_15																											ACCCAGCAGAGGAGCCCGGGGC	0.604													31	50	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:3265561delC	ENST00000602557.1	-	15	2489	c.1934delG	c.(1933-1935)gcfs	p.G645fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000520002.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G644fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	645	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCAGAAATGCCATCATCCTT	0.458													115	146	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57390530	57390531	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:57390530_57390531insC	ENST00000518662.1	+	0	694																											AATTCCAGTTTCCCCCACACAG	0.376													39	72	---	---	---	---					
KLF10	7071	broad.mit.edu	37	8	103664486	103664487	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:103664486_103664487delTA	ENST00000395884.3	-	2	1044_1045	c.142_143delTA	c.(142-144)cfs	p.Y48fs	KLF10_ENST00000285407.6_Frame_Shift_Del_p.Y59fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	59					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTTTTCAACGTATTTCTTAAAA	0.391											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	141	---	---	---	---					
ENPP2	5168	broad.mit.edu	37	8	120577193	120577193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:120577193delC	ENST00000427067.2	-	24	2377	c.2197delG	c.(2197-2199)tcfs	p.V733fs	ENPP2_ENST00000259486.6_Frame_Shift_Del_p.V764fs|ENPP2_ENST00000522167.1_Frame_Shift_Del_p.V347fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.V737fs|ENPP2_ENST00000075322.6_Frame_Shift_Del_p.V712fs			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	712					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAATTCCAGACCCCTGTGCAA	0.383													75	210	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35606843delG	ENST00000336395.5	+	4	650	c.400delG	c.(400-402)ggfs	p.G135fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	135	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTATATGAATGGGGGGACATT	0.577													26	70	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581246	99581246	+	Frame_Shift_Del	DEL	G	G	-	rs35483372		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:99581246delG	ENST00000481138.1	-	6	1720	c.1059delC	c.(1057-1059)ttfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACACTGAAAGTTGACT	0.408													165	769	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117187363	117187364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:117187363_117187364insA	ENST00000374059.3	-	1	987_988	c.54_55insT	c.(52-57)ctcccafs	p.LP18fs	DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	369	Ala/Gly/Ser-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCGTGGGCAAGGGACAGGG	0.535													38	57	---	---	---	---					
TBC1D13	54662	broad.mit.edu	37	9	131559379	131559380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:131559379_131559380insA	ENST00000372648.5	+	7	579_580	c.429_430insA	c.(427-432)tacttgfs	p.Y143fs	TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Ins_p.Y143fs	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCACTGACTACCCTTGCCTCCT	0.510													7	177	---	---	---	---					
MAP3K8	1326	broad.mit.edu	37	10	30728217	30728218	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:30728217_30728218delCG	ENST00000375322.2	+	3	739_740	c.350_351delCG	c.(349-351)cfs	p.P117fs	MAP3K8_ENST00000542547.1_Intron|MAP3K8_ENST00000263056.1_Intron|MAP3K8_ENST00000375321.1_Intron			P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	0					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CGTTTCTTTCCGATCAGTTGGG	0.406													18	55	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	56128900	56128900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:56128900delA	ENST00000373965.2	-	5	848	c.454delT	c.(454-456)acfs	p.Y153fs	PCDH15_ENST00000395446.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000361849.3_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395430.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000437009.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000414778.1_Frame_Shift_Del_p.Y158fs|PCDH15_ENST00000395445.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395433.1_Frame_Shift_Del_p.Y131fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000373957.3_Frame_Shift_Del_p.Y131fs|PCDH15_ENST00000373955.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000395442.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Frame_Shift_Del_p.Y153fs|PCDH15_ENST00000320301.6_Frame_Shift_Del_p.Y153fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	153	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGCATAGTAGCTTTCATGC	0.368										HNSCC(58;0.16)			58	270	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98192565	98192566	+	Splice_Site	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:98192565_98192566insG	ENST00000357947.3	-	4	743_744	c.520_splice	c.e4+1	p.R173_splice	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	173	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTACTGACCAGTGAAGTTCCC	0.569													34	236	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99212032	99212036	+	Frame_Shift_Del	DEL	CCCAC	CCCAC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:99212032_99212036delCCCAC	ENST00000393760.1	+	4	778_782	c.429_433delCCCAC	c.(427-435)taccfs	p.YPP143fs	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000352634.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370854.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370846.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370842.2_Frame_Shift_Del_p.YPP143fs	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	143					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCCTGGGTACCCACCCCAGGTGGG	0.546													8	51	---	---	---	---					
LOC101928989	101928989	broad.mit.edu	37	11	81726830	81726830	+	RNA	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:81726830delG	ENST00000500502.1	-	0	813																											ATCAACTGTTGGAAGGCTGGT	0.438													2	4	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113235648	113235649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113235648_113235649insA	ENST00000529221.1	+	21	2013_2014	c.1908_1909insA	c.(1906-1911)ccacgtfs	p.R637fs	TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.R643fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.R637fs	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	637							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGAGGTGCCCAACGTTGCGTC	0.559													18	579	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113860407	113860407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113860407delA	ENST00000504030.2	+	9	1804	c.1359delA	c.(1357-1359)ctfs	p.L453fs	HTR3A_ENST00000355556.2_Frame_Shift_Del_p.L491fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.L459fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.L197fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.L485fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.L438fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	453					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAAGCTGCTATTCCACATTT	0.592													59	324	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20522956	20522956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:20522956delG	ENST00000359062.3	+	1	778	c.738delG	c.(736-738)gtfs	p.V246fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	246					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGGCGTGCTGGGGATCC	0.607													7	14	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794773	55794773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55794773delT	ENST00000379665.2	+	1	560	c.461delT	c.(460-462)atfs	p.I154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTCTCATTATTTTTCCCCCC	0.433													10	170	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945160	55945160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55945160delC	ENST00000394256.2	+	1	178	c.150delC	c.(148-150)gafs	p.D50fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACTAGACCCCCACCTCC	0.418													74	566	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	A	-	rs35015855		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78400665delA	ENST00000397909.2	+	8	1520	c.1347delA	c.(1345-1347)ccfs	p.P449fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P449fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P449fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P449fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						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						TGGCCCCTCCAAAAGCTGGAA	0.398										HNSCC(70;0.22)			54	120	---	---	---	---					
UBE3B	89910	broad.mit.edu	37	12	109939222	109939223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:109939222_109939223insG	ENST00000342494.3	+	13	1760_1761	c.1165_1166insG	c.(1165-1167)gggfs	p.G389fs	UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGTTCTTGTGGGGGGTGCCT	0.554													8	434	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436													10	751	---	---	---	---					
TRAV10	28676	broad.mit.edu	37	14	22293965	22293980	+	RNA	DEL	CCAAGTGGAGCAGAGT	CCAAGTGGAGCAGAGT	-	rs147582086	by1000genomes	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:22293965_22293980delCCAAGTGGAGCAGAGT	ENST00000390432.2	+	0	105_120																											ATGGCAAAAACCAAGTGGAGCAGAGTCCTCAGTCCC	0.440													11	162	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35596756	35596769	+	Frame_Shift_Del	DEL	AGGGAAAAATCATG	AGGGAAAAATCATG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:35596756_35596769delAGGGAAAAATCATG	ENST00000557565.1	+	4	1487_1500	c.1106_1119delAGGGAAAAATCATG	c.(1105-1119)afs	p.KGKIM369fs	KIAA0391_ENST00000604948.1_Frame_Shift_Del_p.KGKIM274fs|KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000605870.1_Start_Codon_Del|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.KGKIM353fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.KGKIM353fs|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.KGKIM369fs|KIAA0391_ENST00000250377.7_Frame_Shift_Del_p.KGKIM274fs			O15091	MRRP3_HUMAN	KIAA0391	369					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GAATGTCTTAAGGGAAAAATCATGAGGGATGTGA	0.388													8	273	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:64606758delG	ENST00000357395.3	+	81	15242	c.4098delG	c.(4096-4098)ttfs	p.L1366fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L4898fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L1615fs|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.L4981fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L4981fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L1366fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCAGGACTTGGATACAATCA	0.358													222	235	---	---	---	---					
ZC3H14	79882	broad.mit.edu	37	14	89069237	89069238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:89069237_89069238insC	ENST00000251038.5	+	12	1805_1806	c.1580_1581insC	c.(1579-1581)accfs	p.T527fs	ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	527						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.470													8	288	---	---	---	---					
CSNK1G1	53944	broad.mit.edu	37	15	64499783	64499783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:64499783delC	ENST00000303052.7	-	7	1113	c.690delG	c.(688-690)cgfs	p.R231fs	CTD-2116N17.1_ENST00000606793.1_Frame_Shift_Del_p.R213fs|CSNK1G1_ENST00000607537.1_Frame_Shift_Del_p.R231fs|CSNK1G1_ENST00000303032.6_Frame_Shift_Del_p.R231fs	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	231	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AATCATCTCTCCGGCTTTGCT	0.453													60	141	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)gggfs	p.G1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.550													7	387	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													7	168	---	---	---	---					
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:58030897delC	ENST00000299237.2	-	2	1895	c.1273delG	c.(1273-1275)agfs	p.E425fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGGCCGCTCGGCCGCGCCG	0.662													3	4	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279284	20279284	+	RNA	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:20279284delC	ENST00000578315.1	-	0	263																											CAGGTCCTTTCCCCCATCTCT	0.612													12	29	---	---	---	---					
KIAA0195	9772	broad.mit.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:73493880_73493881insC	ENST00000314256.7	+	27	3820_3821	c.3426_3427insC	c.(3424-3429)aaccccfs	p.NP1142fs	KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1142					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGGGAAGCCCCCCCATAG	0.520													20	570	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47802344	47802344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:47802344delC	ENST00000591416.1	-	7	955	c.524delG	c.(523-525)gcfs	p.G175fs	MBD1_ENST00000353909.3_Intron|MBD1_ENST00000349085.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.G175fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.G201fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.G175fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.G175fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.G175fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.G175fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.G175fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.G175fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.G175fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	175					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCCCACAGCCCACACGCTG	0.617													13	43	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358470	54358471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:54358470_54358471insT	ENST00000254442.3	+	8	952_953	c.741_742insT	c.(739-744)tctgttfs	p.V248fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.V248fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	248										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAGACTATTCCTTGTTGTGTTC	0.401													37	198	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547767	63547767	+	Frame_Shift_Del	DEL	G	G	-	rs150661165		TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:63547767delG	ENST00000397968.2	+	12	2421	c.1995delG	c.(1993-1995)gcfs	p.A665fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A665fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	665					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACACGGAAGCGTTTGACATGG	0.488													29	95	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11138587_11138588insA	ENST00000358026.2	+	24	3627_3628	c.3343_3344insA	c.(3343-3345)cttfs	p.L1115fs	SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.L1115fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1115	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATGGAAGATTACTTTGCGTAT	0.465			"""F, N, Mis"""		NSCLC								24	52	---	---	---	---					
LDLR	3949	broad.mit.edu	37	19	11238690	11238691	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11238690_11238691delGC	ENST00000558518.1	+	16	2505_2506	c.2318_2319delGC	c.(2317-2319)gfs	p.G773fs	LDLR_ENST00000558013.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000545707.1_Frame_Shift_Del_p.G595fs|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Frame_Shift_Del_p.G605fs|LDLR_ENST00000535915.1_Frame_Shift_Del_p.G732fs|LDLR_ENST00000557933.1_Frame_Shift_Del_p.G773fs	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	773					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCAGCTCTGGGCGACGTTGCTG	0.624													9	42	---	---	---	---					
PPFIA3	8541	broad.mit.edu	37	19	49646213	49646225	+	Frame_Shift_Del	DEL	GGAGATGGTCTCG	GGAGATGGTCTCG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49646213_49646225delGGAGATGGTCTCG	ENST00000334186.4	+	21	3046_3058	c.2697_2709delGGAGATGGTCTCG	c.(2695-2709)cafs	p.QEMVS899fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.QEMVS899fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	899	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC	0.648													17	78	---	---	---	---					
ZNF749	388567	broad.mit.edu	37	19	57955493	57955505	+	Frame_Shift_Del	DEL	ATGAATGCAACAA	ATGAATGCAACAA	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:57955493_57955505delATGAATGCAACAA	ENST00000334181.4	+	3	1227_1239	c.977_989delATGAATGCAACAA	c.(976-990)tgfs	p.YECNK326fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAACAGCCCTATGAATGCAACAAGTGTGGGAAG	0.451													7	458	---	---	---	---					
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	CCCGGGA	-	rs144536843	byFrequency	TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:58565262_58565268delCCCGGGA	ENST00000282326.1	+	6	1317_1323	c.1070_1076delCCCGGGA	c.(1069-1077)cgfs	p.PRE357fs		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGGGCCCCCGGGAGTCCGTCCCA	0.657													10	16	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													8	179	---	---	---	---					
SEMG1	6406	broad.mit.edu	37	20	43836371	43836371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:43836371delG	ENST00000372781.3	+	2	490	c.433delG	c.(433-435)atfs	p.D145fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.D145fs	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCTTCTCAAGATCAGGGGAA	0.418													143	300	---	---	---	---					
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:27997961_27997962delCG	ENST00000441525.1	-	1	1604_1605	c.1490_1491delCG	c.(1489-1491)gfs	p.A497fs		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497								p.A497V(1)|p.A497G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCACTGGTCGCCAACACAGG	0.485													58	115	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977860	107977861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01W-0928-08	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b850bfc1-7926-4bee-a0c4-e6e964765a6b	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107977860_107977861insA	ENST00000372129.2	-	1	1790_1791	c.1714_1715insT	c.(1714-1716)tggfs	p.W572fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	572						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCCTGGCCACCACCTGAGCCA	0.629													12	44	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27097629	27097629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:27097629delG	ENST00000324856.7	+	12	3589	c.3218delG	c.(3217-3219)tgfs	p.W1073fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.W1073fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.W690fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1073	ARID.				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)		AACAAAAAATGGCGGGAACTT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	27	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:40777384delC	ENST00000372748.3	-	9	517	c.421delG	c.(421-423)acfs	p.D141fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX		p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622													43	59	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86919069	86919070	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:86919069_86919070delGC	ENST00000370565.4	+	13	2335_2336	c.2173_2174delGC	c.(2173-2175)tfs	p.A725fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	725					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGATGAATGCTCCAAGGAAA	0.436													9	35	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				7	1358	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:51255156_51255157delCG	ENST00000404971.1	-	2	1594_1595	c.255_256delCG	c.(253-258)cggcfs	p.RG85fs	NRXN1_ENST00000402717.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.RG85fs|NRXN1_ENST00000405581.1_Frame_Shift_Del_p.RG85fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	85	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGCGGCCGCCGCGCGTCAGAA	0.663													12	10	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atg>a	p.ML6del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	6						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													8	95	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:9100069delC	ENST00000383836.3	-	7	1316	c.889delG	c.(889-891)aafs	p.E297fs	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.E297fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552			T	RAF1	pilocytic astrocytoma								35	119	---	---	---	---					
MKRN2	23609	broad.mit.edu	37	3	12623348	12623349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:12623348_12623349insC	ENST00000170447.7	+	7	1147_1148	c.1010_1011insC	c.(1009-1011)tccfs	p.S337fs	MKRN2_ENST00000448482.1_Frame_Shift_Ins_p.S335fs|MKRN2_ENST00000411987.1_Frame_Shift_Ins_p.S294fs	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	337						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AAGGGGACCTGCCCATTTGGAA	0.495													33	99	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125642892	125642893	+	RNA	INS	-	-	AGAC	rs56865221		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:125642892_125642893insAGAC	ENST00000485843.1	+	0	332					NR_024251.1																						ACTGCCAACTTAGCCCCAGAGT	0.554													11	24	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880881	137880881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr3:137880881delC	ENST00000260803.4	-	8	1638	c.1485delG	c.(1483-1485)ggfs	p.G495fs	DBR1_ENST00000505015.2_Frame_Shift_Del_p.G261fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	495						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACTCCACAGTCCCACCAGGTT	0.453													23	75	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													8	23	---	---	---	---					
DHFR	1719	broad.mit.edu	37	5	79950244	79950244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:79950244delT	ENST00000439211.2	-	1	558	c.65delA	c.(64-66)gcfs	p.D22fs	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.D22fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	22	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CCAGGGCAGGTCCCCGTTCTT	0.682													14	36	---	---	---	---					
FAM172A	83989	broad.mit.edu	37	5	92956752	92956757	+	In_Frame_Del	DEL	TGGTCT	TGGTCT	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:92956752_92956757delTGGTCT	ENST00000395965.3	-	11	1329_1334	c.1187_1192delAGACCA	c.(1186-1194)agc>a	p.KTS396del	FAM172A_ENST00000509163.1_In_Frame_Del_p.KTS350del|FAM172A_ENST00000505869.1_In_Frame_Del_p.KTS286del|FAM172A_ENST00000509739.1_In_Frame_Del_p.KTS249del	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	396						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TTCAGGGAGCTGGTCTTGGCCTCTGA	0.597													8	54	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132437501	132437501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:132437501delA	ENST00000304858.2	+	17	2377	c.2088delA	c.(2086-2088)ccfs	p.P696fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	696					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAACGACCAAAATTATTTG	0.343													7	21	---	---	---	---					
PCDHB10	56126	broad.mit.edu	37	5	140574170	140574175	+	In_Frame_Del	DEL	AGGCCG	AGGCCG	-	rs58244182	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr5:140574170_140574175delAGGCCG	ENST00000239446.4	+	1	2229_2234	c.2045_2050delAGGCCG	c.(2044-2052)cag>c	p.QAE682del		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		682					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAGGCCCAGGCCGAGGCCGACTT	0.704													22	117	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													7	50	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65439604	65439604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:65439604delG	ENST00000304895.4	-	7	1283	c.1153delC	c.(1153-1155)acfs	p.H385fs	GUSB_ENST00000345660.6_Frame_Shift_Del_p.H334fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.H239fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	385					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGGGGTAGTGGCTGGTACGG	0.592													16	76	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235724	127235726	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:127235724_127235726delGCA	ENST00000265825.5	+	2	727_729	c.508_510delGCA	c.(508-510)del	p.A171del	FSCN3_ENST00000420086.2_In_Frame_Del_p.A37del	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	171						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCCCT	0.611													11	75	---	---	---	---					
TRBV5-7	28608	broad.mit.edu	37	7	142111844	142111845	+	RNA	DEL	GG	GG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr7:142111844_142111845delGG	ENST00000390378.1	-	0	14_15																											ACCCAGCAGAGGAGCCCGGGGC	0.604													17	18	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:3265561delC	ENST00000520002.1	-	15	2489	c.1934delG	c.(1933-1935)gcfs	p.G645fs	CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G644fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	645	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCAGAAATGCCATCATCCTT	0.458													10	13	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57390530	57390531	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:57390530_57390531insC	ENST00000518662.1	+	0	694																											AATTCCAGTTTCCCCCACACAG	0.376													25	38	---	---	---	---					
KLF10	7071	broad.mit.edu	37	8	103664486	103664487	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:103664486_103664487delTA	ENST00000395884.3	-	2	1044_1045	c.142_143delTA	c.(142-144)cfs	p.Y48fs	KLF10_ENST00000285407.6_Frame_Shift_Del_p.Y59fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	59					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTTTTCAACGTATTTCTTAAAA	0.391											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	79	---	---	---	---					
ENPP2	5168	broad.mit.edu	37	8	120577193	120577193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr8:120577193delC	ENST00000427067.2	-	24	2377	c.2197delG	c.(2197-2199)tcfs	p.V733fs	ENPP2_ENST00000075322.6_Frame_Shift_Del_p.V712fs|ENPP2_ENST00000522167.1_Frame_Shift_Del_p.V347fs|ENPP2_ENST00000259486.6_Frame_Shift_Del_p.V764fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.V737fs			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	712					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAATTCCAGACCCCTGTGCAA	0.383													7	27	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													6	4	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:35606843delG	ENST00000336395.5	+	4	650	c.400delG	c.(400-402)ggfs	p.G135fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	135	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTATATGAATGGGGGGACATT	0.577													12	68	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581246	99581246	+	Frame_Shift_Del	DEL	G	G	-	rs35483372		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:99581246delG	ENST00000481138.1	-	6	1720	c.1059delC	c.(1057-1059)ttfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACACTGAAAGTTGACT	0.408													27	84	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117187363	117187364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr9:117187363_117187364insA	ENST00000374059.3	-	1	987_988	c.54_55insT	c.(52-57)ctcccafs	p.LP18fs	DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000362057.3_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	369	Ala/Gly/Ser-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCGTGGGCAAGGGACAGGG	0.535													20	25	---	---	---	---					
MAP3K8	1326	broad.mit.edu	37	10	30728217	30728218	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:30728217_30728218delCG	ENST00000375322.2	+	3	739_740	c.350_351delCG	c.(349-351)cfs	p.P117fs	MAP3K8_ENST00000263056.1_Intron|MAP3K8_ENST00000375321.1_Intron|MAP3K8_ENST00000542547.1_Intron			P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	0					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CGTTTCTTTCCGATCAGTTGGG	0.406													13	37	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98192565	98192566	+	Splice_Site	INS	-	-	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:98192565_98192566insG	ENST00000357947.3	-	4	743_744	c.520_splice	c.e4+1	p.R173_splice	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	173	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTACTGACCAGTGAAGTTCCC	0.569													15	59	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99212032	99212036	+	Frame_Shift_Del	DEL	CCCAC	CCCAC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:99212032_99212036delCCCAC	ENST00000393760.1	+	4	778_782	c.429_433delCCCAC	c.(427-435)taccfs	p.YPP143fs	ZDHHC16_ENST00000352634.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370846.4_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370842.2_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000353979.3_Frame_Shift_Del_p.YPP143fs|ZDHHC16_ENST00000370854.3_Frame_Shift_Del_p.YPP143fs	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	143					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCCTGGGTACCCACCCCAGGTGGG	0.546													11	92	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509593	102509593	+	Frame_Shift_Del	DEL	C	C	-	rs76675173		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr10:102509593delC	ENST00000370296.2	+	2	684	c.134delC	c.(133-135)gcfs	p.A45fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Del_p.A45fs|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A45fs|PAX2_ENST00000556085.1_Frame_Shift_Del_p.A44fs|PAX2_ENST00000428433.1_Frame_Shift_Del_p.A45fs			Q02962	PAX2_HUMAN	paired box 2	45	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GTGGAGCTGGCCCACCAGGGT	0.687													9	68	---	---	---	---					
OR51M1	390059	broad.mit.edu	37	11	5411244	5411244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:5411244delT	ENST00000328611.3	+	1	638	c.616delT	c.(616-618)tcfs	p.F206fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	206						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATATCACCTTCAATAATCT	0.512													17	78	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113860407	113860407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr11:113860407delA	ENST00000504030.2	+	9	1804	c.1359delA	c.(1357-1359)ctfs	p.L453fs	HTR3A_ENST00000355556.2_Frame_Shift_Del_p.L491fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.L459fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.L197fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.L438fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.L485fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	453					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAAGCTGCTATTCCACATTT	0.592													22	113	---	---	---	---					
CACNA1C	775	broad.mit.edu	37	12	2659197	2659197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:2659197delG	ENST00000399655.1	+	10	1744	c.1479delG	c.(1477-1479)ctfs	p.L493fs	CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.L518fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.L493fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.L493fs	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCAGGCTGGCGTGAGTAG	0.592													2	4	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20522956	20522956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:20522956delG	ENST00000359062.3	+	1	778	c.738delG	c.(736-738)gtfs	p.V246fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	246					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGGCGTGCTGGGGATCC	0.607													14	50	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945160	55945160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:55945160delC	ENST00000394256.2	+	1	178	c.150delC	c.(148-150)gafs	p.D50fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACTAGACCCCCACCTCC	0.418													17	111	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	A	-	rs35015855		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:78400665delA	ENST00000397909.2	+	8	1520	c.1347delA	c.(1345-1347)ccfs	p.P449fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P449fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P449fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P449fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						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						TGGCCCCTCCAAAAGCTGGAA	0.398										HNSCC(70;0.22)			33	49	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	200	---	---	---	---					
ARHGEF7	8874	broad.mit.edu	37	13	111767915	111767915	+	Frame_Shift_Del	DEL	G	G	-	rs144455445		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr13:111767915delG	ENST00000375741.2	+	1	292	c.42delG	c.(40-42)ctfs	p.L14fs	ARHGEF7-AS2_ENST00000425094.2_RNA|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.L14fs|ARHGEF7_ENST00000370623.3_Frame_Shift_Del_p.L14fs|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.L14fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	14	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATCACTCTGGGGGTGCTGG	0.682													14	46	---	---	---	---					
CPNE6	9362	broad.mit.edu	37	14	24546933	24546933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:24546933delC	ENST00000397016.2	+	17	1979	c.1668delC	c.(1666-1668)agfs	p.S556fs	CPNE6_ENST00000537691.1_Frame_Shift_Del_p.S611fs|CPNE6_ENST00000216775.2_Frame_Shift_Del_p.S556fs			O95741	CPNE6_HUMAN	copine VI (neuronal)	556					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCAGCCCTAGCCCGTGACTGC	0.657													9	49	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr14:64606758delG	ENST00000357395.3	+	81	15242	c.4098delG	c.(4096-4098)ttfs	p.L1366fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L4981fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L1366fs|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L1615fs|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.L4981fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L4898fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCAGGACTTGGATACAATCA	0.358													39	59	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													13	47	---	---	---	---					
ULK4P2	100288380	broad.mit.edu	37	15	30875077	30875078	+	RNA	INS	-	-	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:30875077_30875078insC	ENST00000569682.1	+	0	173																											CTCAAAAGTTTTTTTTTTTTTT	0.297													9	22	---	---	---	---					
CSNK1G1	53944	broad.mit.edu	37	15	64499783	64499783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr15:64499783delC	ENST00000303052.7	-	7	1113	c.690delG	c.(688-690)cgfs	p.R231fs	CSNK1G1_ENST00000303032.6_Frame_Shift_Del_p.R231fs|CSNK1G1_ENST00000607537.1_Frame_Shift_Del_p.R231fs|CTD-2116N17.1_ENST00000606793.1_Frame_Shift_Del_p.R213fs	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	231	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AATCATCTCTCCGGCTTTGCT	0.453													13	32	---	---	---	---					
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr16:58030897delC	ENST00000299237.2	-	2	1895	c.1273delG	c.(1273-1275)agfs	p.E425fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGGCCGCTCGGCCGCGCCG	0.662													17	26	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													7	60	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279284	20279284	+	RNA	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:20279284delC	ENST00000578315.1	-	0	263																											CAGGTCCTTTCCCCCATCTCT	0.612													6	9	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs72376816	by1000genomes	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(97-102)ccaacc>ccGAACCCaacc	p.32_33insPN		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	32	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													6	10	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358470	54358471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:54358470_54358471insT	ENST00000254442.3	+	8	952_953	c.741_742insT	c.(739-744)tctgttfs	p.V248fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.V248fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	248										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAGACTATTCCTTGTTGTGTTC	0.401													16	66	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547767	63547767	+	Frame_Shift_Del	DEL	G	G	-	rs150661165		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr18:63547767delG	ENST00000397968.2	+	12	2421	c.1995delG	c.(1993-1995)gcfs	p.A665fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A665fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	665					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACACGGAAGCGTTTGACATGG	0.488													10	29	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11138587_11138588insA	ENST00000358026.2	+	24	3627_3628	c.3343_3344insA	c.(3343-3345)cttfs	p.L1115fs	SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.L1115fs|SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.L1115fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1115	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATGGAAGATTACTTTGCGTAT	0.465			"""F, N, Mis"""		NSCLC								101	126	---	---	---	---					
LDLR	3949	broad.mit.edu	37	19	11238690	11238691	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:11238690_11238691delGC	ENST00000558518.1	+	16	2505_2506	c.2318_2319delGC	c.(2317-2319)gfs	p.G773fs	LDLR_ENST00000545707.1_Frame_Shift_Del_p.G595fs|LDLR_ENST00000535915.1_Frame_Shift_Del_p.G732fs|LDLR_ENST00000455727.2_Frame_Shift_Del_p.G605fs|LDLR_ENST00000558013.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000557933.1_Frame_Shift_Del_p.G773fs	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	773					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCAGCTCTGGGCGACGTTGCTG	0.624													10	78	---	---	---	---					
PPFIA3	8541	broad.mit.edu	37	19	49646213	49646225	+	Frame_Shift_Del	DEL	GGAGATGGTCTCG	GGAGATGGTCTCG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:49646213_49646225delGGAGATGGTCTCG	ENST00000334186.4	+	21	3046_3058	c.2697_2709delGGAGATGGTCTCG	c.(2695-2709)cafs	p.QEMVS899fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.QEMVS899fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	899	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC	0.648													24	92	---	---	---	---					
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	CCCGGGA	-	rs144536843	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr19:58565262_58565268delCCCGGGA	ENST00000282326.1	+	6	1317_1323	c.1070_1076delCCCGGGA	c.(1069-1077)cgfs	p.PRE357fs		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGGGCCCCCGGGAGTCCGTCCCA	0.657													22	34	---	---	---	---					
SEMG1	6406	broad.mit.edu	37	20	43836371	43836371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chr20:43836371delG	ENST00000372781.3	+	2	490	c.433delG	c.(433-435)atfs	p.D145fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.D145fs	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCTTCTCAAGATCAGGGGAA	0.418													23	54	---	---	---	---					
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:27997961_27997962delCG	ENST00000441525.1	-	1	1604_1605	c.1490_1491delCG	c.(1489-1491)gfs	p.A497fs		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497								p.A497V(1)|p.A497G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCACTGGTCGCCAACACAGG	0.485													12	26	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977860	107977861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a715d783-38f1-4f6d-991b-983fb907cc9f	4e71d336-b90c-48cc-9548-4b96de91adb1	g.chrX:107977860_107977861insA	ENST00000372129.2	-	1	1790_1791	c.1714_1715insT	c.(1714-1716)tggfs	p.W572fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	572						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCCTGGCCACCACCTGAGCCA	0.629													65	156	---	---	---	---					
