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
TTLL7	79739	broad.mit.edu	37	1	84373315	84373315	+	Missense_Mutation	SNP	G	G	A	rs143330409		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:84373315G>A	ENST00000260505.8	-	16	2193	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	606					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.R606W(1)		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)		GAGATGGACCGAGGGCAGCTG	0.468000													5	34					0	0	0.021553	0	0
ITGA9	3680	broad.mit.edu	37	3	37826549	37826549	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:37826549G>C	ENST00000264741.5	+	26	3125	c.2869G>C	c.(2869-2871)Ggg>Cgg	p.G957R	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	957					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G957R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATAGCTCATGGGAACCCAGA	0.562000													21	67					0	0	0.014323	0	0
ACVRL1	94	broad.mit.edu	37	12	52307405	52307405	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:52307405G>A	ENST00000550683.1	+	3	519	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	ACVRL1_ENST00000388922.4_Missense_Mutation_p.V126M|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	126					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.V126M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGGGCCCCGTGCTGGCCTT	0.682000													24	10					0	0	0.027356	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746199	37746199	+	Silent	SNP	C	C	T	rs147765962		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:37746199C>T	ENST00000539465.1	+	16	4763	c.4170C>T	c.(4168-4170)acC>acT	p.T1390T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.T1390T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1390						cytoskeleton|cytosol|plasma membrane		p.T1390T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTGCACCACCGCACCCCTGT	0.662000													66	71					0	0	0.014410	0	0
C9orf41	138199	broad.mit.edu	37	9	77642970	77642970	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642970C>T	ENST00000376834.3	-	1	340	c.188G>A	c.(187-189)cGt>cAt	p.R63H	C9orf41_ENST00000376830.3_Missense_Mutation_p.R63H|C9orf41_ENST00000376837.3_Missense_Mutation_p.R63H	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	63								p.R63H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAAGTGCTCACGCTCAAGCCT	0.706000													4	10					0	0	0.009096	0	0
ASB3	51130	broad.mit.edu	37	2	53992709	53992709	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:53992709T>C	ENST00000406625.2	-	2	346	c.106A>G	c.(106-108)Atg>Gtg	p.M36V	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000263634.3_Start_Codon_SNP_p.M1V|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.M39V					ankyrin repeat and SOCS box containing 3									p.M1V(1)		endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAAATCCATTTGTTTGACC	0.443000													16	107					0	0	0.004990	0	0
AC015849.16	0	broad.mit.edu	37	17	34235862	34235862	+	RNA	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:34235862C>T	ENST00000587132.1	-	0	2165																											GTTGAGGTCTCCTCCATGGTT	0.463000													6	66					0	0	0.021553	0	0
RNF133	168433	broad.mit.edu	37	7	122338738	122338738	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:122338738C>G	ENST00000340112.2	-	1	472	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	79	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.E79Q(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTTTTCCCTCTGGTGGCACT	0.448000													38	94					0	0	0.019004	0	0
C2orf78	388960	broad.mit.edu	37	2	74043846	74043846	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:74043846G>T	ENST00000409561.1	+	3	2617	c.2496G>T	c.(2494-2496)gtG>gtT	p.V832V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	832								p.V802V(1)|p.V832V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCACTGCTGTGACCAGTCTCC	0.527000													9	69					0.000442599	0.000476909	0.006214	1	0
CREBBP	1387	broad.mit.edu	37	16	3788647	3788647	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3788647C>T	ENST00000262367.5	-	26	5116	c.4307G>A	c.(4306-4308)aGt>aAt	p.S1436N	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S1436N(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAAATGAATACTATCCAGATA	0.423000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						33	11					0	0	0.010818	0	0
ATP5B	506	broad.mit.edu	37	12	57039660	57039660	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:57039660G>C	ENST00000262030.3	-	1	138	c.88C>G	c.(88-90)Cag>Gag	p.Q30E	ATP5B_ENST00000552919.1_Missense_Mutation_p.Q30E	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	30					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.Q30E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTAAGAGCTGAGCTGGGGGC	0.657000													3	13					0	0	0.004672	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6876136	6876136	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:6876136G>C	ENST00000419673.2	+	9	959	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E407Q|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.E355Q|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E407Q|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E248Q|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.E230Q|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E243Q|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.E248Q	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	230					signal transduction	intracellular		p.E407Q(1)|p.E248Q(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)				CTAGTTTTTTGAGAAAGTTGA	0.338000													9	96					0	0	0.006214	0	0
ZNF230	7773	broad.mit.edu	37	19	44514476	44514476	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:44514476C>G	ENST00000429154.2	+	5	513	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	95	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I95M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCCAGCAAATCTGGGAACAAA	0.468000													10	62					0	0	0.010729	0	0
COL4A4	1286	broad.mit.edu	37	2	227953429	227953429	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:227953429G>T	ENST00000396625.3	-	22	1770	c.1563C>A	c.(1561-1563)ggC>ggA	p.G521G	COL4A4_ENST00000329662.7_Silent_p.G521G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	521	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G521G(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCAAGCCAGCCAGGGAGCC	0.587000													111	71					9.4957e-49	1.15781e-48	0.014410	1	0
KDM3B	51780	broad.mit.edu	37	5	137761206	137761206	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:137761206G>T	ENST00000314358.5	+	17	4546	c.4346G>T	c.(4345-4347)aGg>aTg	p.R1449M	KDM3B_ENST00000394866.1_Missense_Mutation_p.R1105M|KDM3B_ENST00000542866.1_Missense_Mutation_p.R481M	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R1449M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGAACTGCAGGAACTGTGCT	0.448000													33	111					1.61788e-16	1.84332e-16	0.012213	1	0
CD163	9332	broad.mit.edu	37	12	7656275	7656275	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:7656275G>A	ENST00000359156.4	-	1	214	c.12C>T	c.(10-12)ctC>ctT	p.L4L	CD163_ENST00000432237.2_Silent_p.L4L|CD163_ENST00000396620.3_Silent_p.L4L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	4					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.L4L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCACCATTCTGAGTTTGCTCA	0.318000													10	68					0	0	0.013537	0	0
NFKBID	84807	broad.mit.edu	37	19	36387690	36387690	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:36387690A>T	ENST00000396901.1	-	6	769	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	NFKBID_ENST00000606253.1_Missense_Mutation_p.Y66N|NFKBID_ENST00000352614.2_Missense_Mutation_p.Y218N	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	66					inflammatory response	nucleus		p.Y66N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GCCGCAGCATATGCCGCCCAG	0.632000													20	25					0	0	0.012319	0	0
FTO	79068	broad.mit.edu	37	16	53967950	53967950	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:53967950G>A	ENST00000471389.1	+	8	1515	c.1293G>A	c.(1291-1293)agG>agA	p.R431R	FTO_ENST00000460382.1_Silent_p.R32R|FTO_ENST00000394647.3_Silent_p.R135R|FTO_ENST00000463855.1_Silent_p.R53R|FTO_ENST00000431610.2_Silent_p.R32R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	431					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R431R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGAACAAAGGAATGAAATCT	0.428000													4	64					0	0	0.009096	0	0
LSM10	84967	broad.mit.edu	37	1	36859515	36859515	+	Silent	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:36859515G>C	ENST00000315732.2	-	2	365	c.216C>G	c.(214-216)ctC>ctG	p.L72L	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	72					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding	p.L72L(1)		upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				CTGTCACAAAGAGGTCATCCA	0.552000													21	83					0	0	0.010504	0	0
C9orf41	138199	broad.mit.edu	37	9	77642968	77642968	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642968C>T	ENST00000376834.3	-	1	342	c.190G>A	c.(190-192)Gag>Aag	p.E64K	C9orf41_ENST00000376830.3_Missense_Mutation_p.E64K|C9orf41_ENST00000376837.3_Missense_Mutation_p.E64K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	64								p.E64K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CAGAAGTGCTCACGCTCAAGC	0.706000													4	10					0	0	0.009096	0	0
KDM5B	10765	broad.mit.edu	37	1	202710600	202710600	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:202710600C>T	ENST00000367265.3	-	19	4004	c.2840G>A	c.(2839-2841)gGg>gAg	p.G947E	KDM5B_ENST00000367264.2_Missense_Mutation_p.G983E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	947					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.G947E(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGGGGCCAGCCCTACCCCTAG	0.547000													35	61					0	0	0.015359	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30873763	30873763	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:30873763C>A	ENST00000251071.5	-	12	2880	c.2130G>T	c.(2128-2130)atG>atT	p.M710I	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.M377I|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.M710I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.M710I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	710					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.M710I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTGAGGTCATAAACTCTG	0.378000													36	118					6.97489e-18	8.07924e-18	0.021022	1	0
STXBP5L	9515	broad.mit.edu	37	3	120973778	120973778	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:120973778A>T	ENST00000273666.6	+	16	1749	c.1478A>T	c.(1477-1479)aAa>aTa	p.K493I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.K493I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	493					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.K493I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAACTTCAAAAGTGTTTGAA	0.348000													11	21					0	0	0.013537	0	0
CNTN1	1272	broad.mit.edu	37	12	41421677	41421677	+	Missense_Mutation	SNP	G	G	A	rs143121881		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:41421677G>A	ENST00000551295.2	+	22	2846	c.2729G>A	c.(2728-2730)aGg>aAg	p.R910K	CNTN1_ENST00000347616.1_Missense_Mutation_p.R910K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R899K|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	910	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.R910K(1)		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)				CAGCCTCCAAGGATCATCAGT	0.393000													49	26					0	0	0.014410	0	0
ZNF211	10520	broad.mit.edu	37	19	58152819	58152819	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58152819T>C	ENST00000544273.1	+	5	1328	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	ZNF211_ENST00000420680.1_Missense_Mutation_p.F326S|ZNF211_ENST00000391703.3_Missense_Mutation_p.F261S|ZNF211_ENST00000299871.5_Missense_Mutation_p.F387S|ZNF211_ENST00000254182.7_Missense_Mutation_p.F313S|ZNF211_ENST00000240731.4_Missense_Mutation_p.F335S|ZNF211_ENST00000541801.1_Missense_Mutation_p.F313S|ZNF211_ENST00000347302.3_Missense_Mutation_p.F322S			Q13398	ZN211_HUMAN	zinc finger protein 211	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F335S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAATCGTTTAGTCAGATA	0.418000													49	75					0	0	0.014410	0	0
CCDC27	148870	broad.mit.edu	37	1	3672130	3672130	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:3672130C>T	ENST00000294600.2	+	3	636	c.552C>T	c.(550-552)gaC>gaT	p.D184D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	184								p.D184D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAACGTGGACGGTGAGGGAG	0.647000													21	228					0	0	0.012319	0	0
LZTS3	9762	broad.mit.edu	37	20	3147630	3147630	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:3147630C>T	ENST00000329152.3	-	1	1577	c.180G>A	c.(178-180)ggG>ggA	p.G60G	LZTS3_ENST00000360342.3_Silent_p.G60G|LZTS3_ENST00000337576.5_Silent_p.G60G														p.G60G(1)									TGCCCCCACCCCCTGTGCGGG	0.716000													11	19					0	0	0.010729	0	0
GCNT1	2650	broad.mit.edu	37	9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:79118499A>C	ENST00000442371.1	+	3	2141	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	GCNT1_ENST00000376730.4_Missense_Mutation_p.K401T|GCNT1_ENST00000536223.1_Missense_Mutation_p.K401T|GCNT1_ENST00000444201.2_Missense_Mutation_p.K401T	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	401	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.K401T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGCCAATAAGTTTGACGTG	0.488000													19	142					0	0	0.007413	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	77					0.000673444	0.000720067	0.008291	1	0
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:175067712C>T	ENST00000239462.4	+	9	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A700A(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572000													33	91					0	0	0.015359	0	0
CDH1	999	broad.mit.edu	37	16	68842337	68842337	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:68842337C>T	ENST00000261769.5	+	4	589	c.398C>T	c.(397-399)tCt>tTt	p.S133F	CDH1_ENST00000422392.2_Missense_Mutation_p.S133F|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	133					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.S133F(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCCGTTTCTGGAATCCAA	0.478000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				51	78					0	0	0.014410	0	0
GP2	2813	broad.mit.edu	37	16	20337750	20337750	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:20337750G>C	ENST00000302555.5	-	2	153	c.4C>G	c.(4-6)Cct>Gct	p.P2A	GP2_ENST00000341642.5_Missense_Mutation_p.P2A|GP2_ENST00000381362.4_Missense_Mutation_p.P2A|GP2_ENST00000381360.5_Missense_Mutation_p.P2A			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	2						anchored to membrane|extracellular region|plasma membrane		p.P2A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATAAGGTGAGGCATGCAGGTC	0.498000													68	30					0	0	0.014410	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													7	20					0.00198382	0.00210497	0.001984	1	0
INPP5F	22876	broad.mit.edu	37	10	121557048	121557048	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:121557048A>G	ENST00000361976.2	+	8	1110	c.944A>G	c.(943-945)cAt>cGt	p.H315R	INPP5F_ENST00000369083.3_Missense_Mutation_p.H315R	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	315	SAC.						phosphoric ester hydrolase activity	p.H315R(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGTTGATTCATGTTCATAAT	0.423000													12	16					0	0	0.020292	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782206	22782206	+	RNA	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:22782206C>A	ENST00000390300.2	+	0	209																											CCAGGTATCTCCTGTACTACT	0.522000													31	81					1.06801e-11	1.19721e-11	0.009535	1	0
CAMTA1	23261	broad.mit.edu	37	1	7798119	7798119	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:7798119C>G	ENST00000303635.7	+	16	3966	c.3759C>G	c.(3757-3759)ttC>ttG	p.F1253L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F1253L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.F1253L(1)		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)		CTGAGTACTTCCAGACAAGGC	0.488000			T	WWTR1	epitheliod hemangioendothelioma								26	103					0	0	0.027356	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499322	40499322	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:40499322A>C	ENST00000280871.4	-	1	339	c.289T>G	c.(289-291)Tat>Gat	p.Y97D	SLC2A13_ENST00000380858.1_Missense_Mutation_p.Y97D	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	97						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	p.Y78D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCGGTGTCATAGCCAAACAGG	0.697000										HNSCC(50;0.14)			6	3					0	0	0.004482	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992445	39992445	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:39992445A>T	ENST00000332312.3	-	3	539	c.347T>A	c.(346-348)cTc>cAc	p.L116H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	116	EMI.					proteinaceous extracellular matrix		p.L116H(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)				ACGCCAGGCGAGGTCTGTCAC	0.617000													61	136					0	0	0.014410	0	0
PCNT	5116	broad.mit.edu	37	21	47783573	47783573	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:47783573C>G	ENST00000359568.5	+	14	2440	c.2333C>G	c.(2332-2334)gCt>gGt	p.A778G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	778	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.A778G(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGAAAAGGCTGAATCCGAG	0.463000													15	149					0	0	0.024245	0	0
PADI4	23569	broad.mit.edu	37	1	17690129	17690129	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:17690129G>A	ENST00000375448.4	+	16	1897	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	624					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.G624D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCCACTGGGCCTCCAGTGC	0.617000													7	47					0	0	0.003080	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596720	11596720	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:11596720C>T	ENST00000294484.6	+	21	4294	c.4156C>T	c.(4156-4158)Ctg>Ttg	p.L1386L	PTCHD2_ENST00000389575.3_Silent_p.L1386L|PTCHD2_ENST00000304391.6_3'UTR	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1386					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L1603L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TAAGATTCCCCTGCCCGCAGG	0.672000													3	10					0	0	0.004672	0	0
TLK2	11011	broad.mit.edu	37	17	60673977	60673977	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:60673977G>C	ENST00000582809.1	+	18	1748	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	TLK2_ENST00000343388.7_Missense_Mutation_p.E466Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E498Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E520Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E466Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	520					cell cycle|chromatin modification|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.E498Q(1)|p.E520Q(1)|p.E497Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GATTCATAAAGAGCTGGATCA	0.373000													40	118					0	0	0.009718	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647856	32647856	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:32647856G>A	ENST00000266086.4	-	3	224	c.213C>T	c.(211-213)ggC>ggT	p.G71G	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	71					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.G71G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAGAGAGGCGCCCATCTGGA	0.517000													44	35					0	0	0.014410	0	0
DSC3	1825	broad.mit.edu	37	18	28576944	28576944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:28576944G>C	ENST00000434452.1	-	15	2460	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.S769*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	769					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.S769*(2)		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)			TTTCATTCCTGATCCCATAGT	0.433000													22	64					0	0	0.012319	0	0
INTU	27152	broad.mit.edu	37	4	128632073	128632073	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:128632073C>T	ENST00000335251.6	+	14	2478	c.2375C>T	c.(2374-2376)aCa>aTa	p.T792I		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein									p.T792I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTAAGACTGACATCTGGTCCT	0.333000													48	30					0	0	0.014410	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212007	90212007	+	RNA	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:90212007G>A	ENST00000390277.2	+	0	196																											CCCTGTCTTTGTCTCCAGGGG	0.512000													5	57					0	0	0.008291	0	0
AHR	196	broad.mit.edu	37	7	17378759	17378759	+	Missense_Mutation	SNP	G	G	T	rs138430398		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:17378759G>T	ENST00000242057.4	+	10	1953	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	437					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.G437V(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)					GGCACTAGTGGAAAAGACTCT	0.438000													35	65					3.03874e-20	3.54945e-20	0.015359	1	0
FBXW7	55294	broad.mit.edu	37	4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:153253770C>T	ENST00000281708.4	-	6	2192	c.963G>A	c.(961-963)tgG>tgA	p.W321*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W145*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W241*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W321*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W203*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W321*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	321	F-box.				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.W321*(2)|p.W82*(1)|p.W241*(1)|p.?(1)|p.W203*(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)				ATTTCTCTCTCCAGAGAAGGT	0.393000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								32	19					0	0	0.013726	0	0
CCL25	6370	broad.mit.edu	37	19	8122718	8122718	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:8122718G>C	ENST00000253451.4	+	5	462	c.356G>C	c.(355-357)gGa>gCa	p.G119A	CCL25_ENST00000315626.4_Missense_Mutation_p.W75C|CCL25_ENST00000390669.3_Missense_Mutation_p.G120A	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	120					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	p.G120A(1)		NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ttgagttctggaaactccaag	0.468000													17	68					0	0	0.009535	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	147					0	0	0.014758	0	0
RELN	5649	broad.mit.edu	37	7	103243875	103243875	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:103243875A>G	ENST00000424685.2	-	24	3368	c.3209T>C	c.(3208-3210)aTg>aCg	p.M1070T	RELN_ENST00000428762.1_Missense_Mutation_p.M1070T|RELN_ENST00000343529.5_Missense_Mutation_p.M1070T			P78509	RELN_HUMAN	reelin	1070					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.M1070T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAATCTGACATAATTGTGGA	0.507000													31	93					0	0	0.009535	0	0
CD93	22918	broad.mit.edu	37	20	23066316	23066316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:23066316C>T	ENST00000246006.4	-	1	661	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	172	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.G172R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ATGTTACTTCCGGGGGAGCCT	0.652000													12	111					0	0	0.016723	0	0
ATP10A	57194	broad.mit.edu	37	15	25925012	25925012	+	Missense_Mutation	SNP	C	C	A	rs141308074		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:25925012C>A	ENST00000356865.6	-	21	4087	c.3976G>T	c.(3976-3978)Gct>Tct	p.A1326S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1326					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1326S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCCCTGAGCAAAGGTCTCT	0.597000													50	50					1.02067e-35	1.22304e-35	0.014410	1	0
GPR128	84873	broad.mit.edu	37	3	100364943	100364943	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:100364943T>C	ENST00000273352.3	+	9	1369	c.1101T>C	c.(1099-1101)ttT>ttC	p.F367F	GPR128_ENST00000475887.1_Silent_p.F72F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	367					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F367F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACATGGTCTTTAGTCCAAAGG	0.378000													29	51					0	0	0.012213	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88272367	88272367	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:88272367G>A	ENST00000357081.3	-	10	1036	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	AGTPBP1_ENST00000432218.1_Silent_p.L136L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.L350L|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L298L|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	298					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.L298L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTATTATACAGAATTTTCATC	0.289000													7	52					0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	31912954	31912954	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:31912954A>G	ENST00000396184.3	-	7	764	c.560T>C	c.(559-561)tTt>tCt	p.F187S	PDE1C_ENST00000396191.1_Missense_Mutation_p.F187S|PDE1C_ENST00000321453.7_Missense_Mutation_p.F187S|PDE1C_ENST00000396182.2_Missense_Mutation_p.F187S|PDE1C_ENST00000396193.1_Missense_Mutation_p.F247S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	187					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F187S(2)|p.F247S(1)		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)			ATAGAAAATAAATTTCAGTGC	0.398000													25	32					0	0	0.007291	0	0
ZNF639	51193	broad.mit.edu	37	3	179050893	179050893	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:179050893C>T	ENST00000326361.3	+	6	731	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	ZNF639_ENST00000484866.1_Missense_Mutation_p.H96Y|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.H96Y	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	96					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.H96Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			aattctagaccacactgcctT	0.363000													7	13					0	0	0.001984	0	0
FMO3	2328	broad.mit.edu	37	1	171086316	171086316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:171086316C>T	ENST00000367755.4	+	9	1444	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S	FMO3_ENST00000542847.1_Missense_Mutation_p.P425S|FMO3_ENST00000392085.2_Missense_Mutation_p.P445S|FMO3_ENST00000538429.1_Missense_Mutation_p.P382S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	445				KP -> T (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.P445S(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGGCAAAGCCCAACATCCC	0.483000													39	51					0	0	0.025465	0	0
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:72399971G>A	ENST00000340595.3	+	15	2372	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.V770I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.V770I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V770I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	770						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGTTGGTTCGTTCCACCGTT	0.423000													19	32					0	0	0.008871	0	0
ABCC9	10060	broad.mit.edu	37	12	21997778	21997778	+	Silent	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:21997778A>G	ENST00000261200.4	-	25	3167	c.3168T>C	c.(3166-3168)acT>acC	p.T1056T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.T1020T|ABCC9_ENST00000261201.4_Silent_p.T1056T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1056	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.T1056T(2)		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)	TCCATTCTACAGTGAGGGATG	0.418000													53	69					0	0	0.014410	0	0
USP47	55031	broad.mit.edu	37	11	11913616	11913616	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:11913616C>T	ENST00000339865.5	+	3	1018	c.255C>T	c.(253-255)agC>agT	p.S85S	USP47_ENST00000527733.1_Silent_p.S153S|USP47_ENST00000399455.2_Silent_p.S173S|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	173					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCAGCCAAAGCTACTCCTACT	0.393000													26	171					0	0	0.024334	0	0
OR10C1	442194	broad.mit.edu	37	6	29408490	29408490	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:29408490G>A	ENST00000444197.2	+	1	1408	c.698G>A	c.(697-699)cGc>cAc	p.R233H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGCGGGCCGCCGCAAGGCC	0.587000													32	313					0	0	0.017118	0	0
MMP9	4318	broad.mit.edu	37	20	44640354	44640354	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:44640354G>A	ENST00000372330.3	+	6	984	c.965G>A	c.(964-966)cGg>cAg	p.R322Q		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	322	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.R322Q(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AACTACGACCGGGACAAGCTC	0.627000											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	0.006214	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275517	77275517	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:77275517T>C	ENST00000251089.2	-	2	646	c.534A>G	c.(532-534)ccA>ccG	p.P178P		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	178								p.P178P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCAACACCGCTGGGTCCTCTT	0.652000													15	37					0	0	0.004990	0	0
OR5D18	219438	broad.mit.edu	37	11	55587220	55587220	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:55587220A>T	ENST00000333976.4	+	1	135	c.115A>T	c.(115-117)Act>Tct	p.T39S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T39S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTACAATGTCACTGTGCTAGG	0.453000													102	101					0	0	0.014410	0	0
LMO7	4008	broad.mit.edu	37	13	76427232	76427232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:76427232G>T	ENST00000357063.3	+	29	5785	c.4525G>T	c.(4525-4527)Gaa>Taa	p.E1509*	LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1509*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E1175*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1224*|LMO7_ENST00000321797.8_Nonsense_Mutation_p.E1224*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.E1101*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1509						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.E1509*(1)|p.E1175*(1)|p.E1224*(1)		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)		TTTCAGAGGCGAATCTTTAGA	0.378000													27	81					1.55811e-20	1.8354e-20	0.008361	1	0
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:131861957G>C	ENST00000286355.5	-	10	4395	c.2303C>G	c.(2302-2304)cCc>cGc	p.P768R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	768					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.P768R(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)			GAGGATGAGGGGCAAACATTT	0.473000										HNSCC(32;0.087)			15	41					0	0	0.020292	0	0
OR2T1	26696	broad.mit.edu	37	1	248570286	248570286	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:248570286C>T	ENST00000366474.1	+	1	991	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L331F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTACACCATTCTCACACCCAT	0.527000													60	210					0	0	0.014410	0	0
TMEM123	114908	broad.mit.edu	37	11	102272686	102272686	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102272686G>A	ENST00000398136.2	-	3	829	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.H118Y|TMEM123_ENST00000532161.1_Missense_Mutation_p.H49Y	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	137	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity	p.H137Y(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GAACTATTGTGGGTTACGGTC	0.373000													4137	214					0	0	0.014410	0	0
ZNF714	148206	broad.mit.edu	37	19	21300901	21300901	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:21300901G>A	ENST00000596143.1	+	5	1756	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E477E(1)|p.E582E(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATACTGGAGAGAAATCTTACA	0.388000													14	42					0	0	0.020292	0	0
CCP110	9738	broad.mit.edu	37	16	19547561	19547561	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:19547561C>G	ENST00000396212.2	+	5	1006	c.570C>G	c.(568-570)acC>acG	p.T190T	CCP110_ENST00000381396.5_Silent_p.T190T|CCP110_ENST00000396208.2_Silent_p.T190T	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	190	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	p.T190T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCCAAAGACCTCTTCAGCAA	0.393000													126	66					0	0	0.014410	0	0
FAM98C	147965	broad.mit.edu	37	19	38893808	38893808	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:38893808G>A	ENST00000252530.5	+	1	34	c.15G>A	c.(13-15)aaG>aaA	p.K5K	FAM98C_ENST00000588262.1_Silent_p.K5K|FAM98C_ENST00000343358.7_Silent_p.K5K	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	5								p.K5K(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGTGAAGGCGGAAGCGT	0.726000													4	22					0	0	0.021553	0	0
NBPF1	55672	broad.mit.edu	37	1	16914278	16914278	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:16914278C>G	ENST00000430580.2	-	10	1395	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	170	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)		TCTTCATCCTCATCTTCGTCA	0.428000													14	586					0	0	0.008871	0	0
CDK20	23552	broad.mit.edu	37	9	90584799	90584799	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:90584799C>A	ENST00000375883.3	-	5	842	c.536G>T	c.(535-537)gGg>gTg	p.G179V	CDK20_ENST00000336654.5_Missense_Mutation_p.G192V|CDK20_ENST00000605159.1_Missense_Mutation_p.G179V|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000325303.8_Missense_Mutation_p.G200V	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	200	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.G192V(1)|p.G200V(1)		skin(1)	1						AAGGGGGGACCCATTCAACAG	0.577000													60	103					4.88506e-25	5.80361e-25	0.014410	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145770746	145770746	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:145770746C>T	ENST00000276826.5	-	5	2609	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R803H|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R803H			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	803	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.R803H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTCCCAGCCGCGGGCCAGGCT	0.662000													10	99					0	0	0.008291	0	0
POTEH	23784	broad.mit.edu	37	22	16279260	16279260	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:16279260T>C	ENST00000343518.6	-	4	1014	c.963A>G	c.(961-963)aaA>aaG	p.K321K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	321								p.K321K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCACTTGCTGTTTTTGCTCAT	0.323000													32	446					0	0	0.015359	0	0
ST20	400410	broad.mit.edu	37	15	80191455	80191455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:80191455C>T	ENST00000478497.1	-	3	737	c.58G>A	c.(58-60)Gta>Ata	p.V20I	ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.V20I|ST20_ENST00000562759.1_Missense_Mutation_p.V20I	NM_001100879.1	NP_001094349.1			suppressor of tumorigenicity 20									p.V20I(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AGCTTCTTTACAAAGCCATTT	0.318000													18	44					0	0	0.008871	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459679	21459679	+	RNA	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:21459679C>T	ENST00000607545.1	+	0	15					NR_027026.1																						ATGGAGCGCTCTGGGCCCAGC	0.632000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	111					0	0	0.001984	0	0
FBXO22	26263	broad.mit.edu	37	15	76225291	76225291	+	Missense_Mutation	SNP	T	T	G	rs150074021		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:76225291T>G	ENST00000308275.3	+	7	1165	c.1060T>G	c.(1060-1062)Tta>Gta	p.L354V	FBXO22_ENST00000540507.1_Missense_Mutation_p.L250V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	354					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.L354V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAGTGTTCCCTTATTCGGCTT	0.408000													49	87					0	0	0.014410	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453976	48453976	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48453976G>A	ENST00000358536.4	-	26	5177	c.4908C>T	c.(4906-4908)taC>taT	p.Y1636Y	PLXNB1_ENST00000358459.4_Silent_p.Y1453Y|PLXNB1_ENST00000448774.2_Silent_p.Y247Y|PLXNB1_ENST00000456774.1_Silent_p.Y1453Y|PLXNB1_ENST00000296440.6_Silent_p.Y1636Y	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1636					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.Y1636Y(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGATGCCACGTAGGCACGGT	0.572000													18	58					0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488000													67	94					0	0	0.014410	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675657	83675657	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:83675657T>A	ENST00000265362.4	-	6	964	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D217V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity	p.D217V(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCACCTGGAATCATGCTGCTC	0.428000													17	139					0	0	0.008871	0	0
FBLN2	2199	broad.mit.edu	37	3	13669333	13669333	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:13669333C>T	ENST00000404922.3	+	11	2552	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D	FBLN2_ENST00000535798.1_Splice_Site_p.D790D|FBLN2_ENST00000492059.1_Splice_Site_p.D811D|FBLN2_ENST00000295760.7_Splice_Site_p.D764D	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	810	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.D230D(1)|p.D811D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCTGCAGACGTGGATGAGT	0.652000													12	24					0	0	0.016723	0	0
SON	6651	broad.mit.edu	37	21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:34926719A>G	ENST00000356577.4	+	3	5657	c.5182A>G	c.(5182-5184)Att>Gtt	p.I1728V	SON_ENST00000381679.4_Missense_Mutation_p.I1728V|SON_ENST00000300278.4_Missense_Mutation_p.I1728V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.I1728V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1728					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.I1728V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TATTGAGGATATTAATGAAGC	0.433000													78	150					0	0	0.014410	0	0
CLUAP1	23059	broad.mit.edu	37	16	3556338	3556338	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3556338C>G	ENST00000571025.1	+	3	192	c.142C>G	c.(142-144)Ccc>Gcc	p.P48A	CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.P48A|CLUAP1_ENST00000576634.1_Missense_Mutation_p.P48A|LA16c-306E5.3_ENST00000574423.2_RNA			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	48						nucleus	protein binding	p.P48A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGATATGAGCCCCAGACTGA	0.483000													80	48					0	0	0.014410	0	0
ANK1	286	broad.mit.edu	37	8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:41615618G>A	ENST00000396942.1	-	2	148	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L|ANK1_ENST00000347528.4_Missense_Mutation_p.S22L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	22	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S22L(1)|p.S55L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507000													63	297					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:70917863G>A	ENST00000393567.2	-	59	10089	c.9939C>T	c.(9937-9939)gcC>gcT	p.A3313A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3313								p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522000													13	59					0	0	0.016723	0	0
MAP1B	4131	broad.mit.edu	37	5	71494957	71494957	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:71494957C>G	ENST00000296755.7	+	5	6073	c.5775C>G	c.(5773-5775)acC>acG	p.T1925T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1925						microtubule|microtubule associated complex	structural molecule activity	p.T1925T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTATGAGACCATTGGGAAAA	0.463000													8	71					0	0	0.003080	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777338	66777338	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:66777338T>A	ENST00000307102.5	+	7	1235	c.704T>A	c.(703-705)cTc>cAc	p.L235H	MAP2K1_ENST00000566326.1_Missense_Mutation_p.L59H	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	235	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L235H(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCAGAAAGACTCCAGGGGACT	0.517000													86	143					0	0	0.014410	0	0
BCOR	54880	broad.mit.edu	37	X	39933138	39933138	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:39933138T>C	ENST00000342274.4	-	4	1823	c.1461A>G	c.(1459-1461)ctA>ctG	p.L487L	BCOR_ENST00000397354.3_Silent_p.L487L|BCOR_ENST00000378444.4_Silent_p.L487L|BCOR_ENST00000378455.4_Silent_p.L487L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	487					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L487L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGAGGAGATAGTGTTTCTT	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						44	18					0	0	0.009718	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													5	75					1.76689e-08	1.94919e-08	0.006214	1	0
DCC	1630	broad.mit.edu	37	18	50450132	50450132	+	Silent	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:50450132C>A	ENST00000442544.2	+	4	1369	c.753C>A	c.(751-753)gcC>gcA	p.A251A	DCC_ENST00000412726.1_Silent_p.A99A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	251	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.A251A(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTAGTAGCCATTGAAGGAA	0.418000													35	53					1.08052e-11	1.20154e-11	0.019004	1	0
GPR111	222611	broad.mit.edu	37	6	47649716	47649716	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:47649716A>T	ENST00000398742.2	+	5	1266	c.1217A>T	c.(1216-1218)cAa>cTa	p.Q406L	GPR111_ENST00000296862.1_Missense_Mutation_p.Q474L|GPR111_ENST00000507065.1_Missense_Mutation_p.Q406L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	474	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q406L(1)|p.Q474L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCTGGAGCCAAGTGACAAAG	0.448000													68	63					0	0	0.014410	0	0
TMEM47	83604	broad.mit.edu	37	X	34657461	34657461	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:34657461G>T	ENST00000275954.3	-	2	528	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	90						integral to membrane		p.A90A(2)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGAGAATGATGGCAGCGCCGC	0.448000													8	7					3.09899e-07	3.3653e-07	0.004482	1	0
ABCD1	215	broad.mit.edu	37	X	152994806	152994806	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:152994806C>T	ENST00000218104.3	+	2	1419	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	ABCD1_ENST00000370129.4_Silent_p.S155S	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	340	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.S340S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597000													14	110					0	0	0.028581	0	0
KRT32	3882	broad.mit.edu	37	17	39623211	39623211	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:39623211C>T	ENST00000225899.3	-	1	470	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	123	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.E123K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCTCCAGCTCCGCATTCTCC	0.572000													49	148					0	0	0.013114	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789447	6789447	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:6789447C>T	ENST00000338569.2	-	1	839	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACATCCCGACCACAATCAGG	0.483000													23	17					0	0	0.012319	0	0
MFSD12	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:3550991G>A	ENST00000355415.2	-	2	669	c.500C>T	c.(499-501)aCg>aTg	p.T167M	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.T167M|MFSD12_ENST00000389395.3_Missense_Mutation_p.T167M	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	167					transmembrane transport	integral to membrane		p.T167M(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGAGTGCCGTGAGCTCCAC	0.627000													23	15					0	0	0.014323	0	0
ACPP	55	broad.mit.edu	37	3	132050577	132050577	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:132050577G>A	ENST00000336375.5	+	3	393	c.303G>A	c.(301-303)caG>caA	p.Q101Q	ACPP_ENST00000475741.1_Splice_Site_p.Q101Q|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Splice_Site_p.Q101Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	101						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.Q101Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AACATGAACAGGCAAGTTGGG	0.348000													8	21					0	0	0.004482	0	0
USP38	84640	broad.mit.edu	37	4	144134859	144134859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:144134859G>A	ENST00000307017.4	+	9	2236	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	USP38_ENST00000510377.1_Missense_Mutation_p.R577H	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	577					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R577H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GAGACCCCTCGTACAAGTGAC	0.413000													7	43					0	0	0.003080	0	0
HCN1	348980	broad.mit.edu	37	5	45303773	45303773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:45303773G>A	ENST00000303230.4	-	6	1603	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	516						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.Q516*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACACCGTGTTGAATGAAATAC	0.388000													10	116					0	0	0.006214	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117480	99117480	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:99117480C>T	ENST00000394170.2	+	4	835	c.584C>T	c.(583-585)cCc>cTc	p.P195L	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P195L|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P195L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P195L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTCCCTTCCCCTGAAGGAC	0.532000													28	91					0	0	0.012213	0	0
FBXO24	26261	broad.mit.edu	37	7	100189393	100189393	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:100189393C>T	ENST00000241071.6	+	4	748	c.426C>T	c.(424-426)acC>acT	p.T142T	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.T180T|FBXO24_ENST00000360609.2_Silent_p.T128T|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.T128T|FBXO24_ENST00000468962.1_Silent_p.T130T	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	142						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.T180T(1)|p.T142T(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCCCACCAAGGATCACG	0.607000													41	66					0	0	0.014410	0	0
BMP4	652	broad.mit.edu	37	14	54418914	54418914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:54418914C>A	ENST00000245451.4	-	3	420	c.27G>T	c.(25-27)atG>atT	p.M9I	BMP4_ENST00000417573.1_Missense_Mutation_p.M9I|BMP4_ENST00000559087.1_Missense_Mutation_p.M9I|BMP4_ENST00000558984.1_Missense_Mutation_p.M9I	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	9					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.M9I(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						ATAAAACGACCATCAGCATTC	0.493000													42	65					2.45108e-15	2.76992e-15	0.008740	1	0
COL7A1	1294	broad.mit.edu	37	3	48605196	48605196	+	Splice_Site	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48605196C>A	ENST00000328333.8	-	107	8037	c.7930G>T	c.(7930-7932)Gga>Tga	p.G2644*	COL7A1_ENST00000454817.1_Splice_Site_p.G2612*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2644	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2644*(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCTTCTCCCTGCAGGCAT	0.672000													54	139					5.99346e-17	6.88504e-17	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179597433	179597433	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:179597433A>G	ENST00000589042.1	-	56	16579	c.16355T>C	c.(16354-16356)tTt>tCt	p.F5452S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F4208S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F5135S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5135	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F4208S(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)			TTTAGTTACAAAACTGGGTGG	0.403000													11	13					0	0	0.008291	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	82					0	0	0.021553	0	0
LRIG1	26018	broad.mit.edu	37	3	66430809	66430809	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:66430809A>G	ENST00000383703.3	-	20	3694	c.3091T>C	c.(3091-3093)Tac>Cac	p.Y1031H	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.Y1054H|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1054			P -> R (in dbSNP:rs332374).			integral to membrane		p.Y1054H(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAAGCAAGTACTGGGCTTCC	0.567000													38	131					0	0	0.025465	0	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:48947629G>T	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			66	54					1.17004e-41	1.41423e-41	0.014410	1	0
LHX9	56956	broad.mit.edu	37	1	197881675	197881675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:197881675delC	ENST00000367390.3	+	1	41	c.14delC	c.(13-15)accfs	p.T6fs	LHX9_ENST00000367391.1_Frame_Shift_Del_p.T6fs|LHX9_ENST00000606127.1_3'UTR	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	0					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGAACGGTACCACTCTAGAG	0.567													91	139	---	---	---	---					
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Frame_Shift_Del	DEL	G	G	-	rs117404602	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:247835572delG	ENST00000359688.2	-	1	793	c.772delC	c.(772-774)cgcfs	p.R258fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GAAGCAGGGCGGATATAGGTG	0.463													62	70	---	---	---	---					
FAM126B	285172	broad.mit.edu	37	2	201846351	201846351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:201846351delG	ENST00000418596.3	-	12	1422	c.1235delC	c.(1234-1236)ccafs	p.P412fs	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAGATCAGTTGGTTGCTGTAC	0.478													9	67	---	---	---	---					
EHHADH	1962	broad.mit.edu	37	3	184971824	184971833	+	Translation_Start_Site	DEL	CCGAGGGCAC	CCGAGGGCAC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:184971824_184971833delCCGAGGGCAC	ENST00000231887.3	-	0	53_62				EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCCTCTATCACCGAGGGCACCTCTGCCTCT	0.681													7	33	---	---	---	---					
FAM21A	387680	broad.mit.edu	37	10	51855357	51855359	+	Splice_Site	DEL	AGG	AGG	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:51855357_51855359delAGG	ENST00000351071.6	+	15	1358_1359	c.1240_1241delAGG	c.(1240-1242)agg>g	p.R414del	FAM21A_ENST00000399339.2_Splice_Site_p.R326del|FAM21A_ENST00000314664.7_Splice_Site_p.R414del|FAM21A_ENST00000282633.5_Splice_Site_p.R414del			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	414					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTCCACCCACAGGAGACACGGAT	0.512													17	38	---	---	---	---					
OR52K1	390036	broad.mit.edu	37	11	4510227	4510227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:4510227delT	ENST00000307632.3	+	1	119	c.97delT	c.(97-99)ttcfs	p.F33fs		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCATCCCCTTCTGCTTTGC	0.498													99	63	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													15	221	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6973255	6973287	+	In_Frame_Del	DEL	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	ENST00000229268.8	+	17	2192_2224	c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	c.(2140-2172)ggctccacaagcgcagcagccgacccccctcctdel	p.GSTSAAADPPP714del	USP5_ENST00000389231.5_In_Frame_Del_p.GSTSAAADPPP691del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	714					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.D698N(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG	0.635													7	188	---	---	---	---					
AVPR1A	552	broad.mit.edu	37	12	63543915	63543926	+	In_Frame_Del	DEL	GGTACCCAAGAT	GGTACCCAAGAT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:63543915_63543926delGGTACCCAAGAT	ENST00000299178.2	-	1	796_807	c.691_702delATCTTGGGTACC	c.(691-702)atcttgggtaccdel	p.ILGT231del		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	231					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGCCGTAGCAGGTACCCAAGATGACCACGGGC	0.632													36	74	---	---	---	---					
VPS33A	65082	broad.mit.edu	37	12	122745915	122745919	+	Frame_Shift_Del	DEL	TCAAC	TCAAC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:122745915_122745919delTCAAC	ENST00000267199.4	-	4	484_488	c.372_376delGTTGA	c.(370-378)cggttgaagfs	p.LK125fs	VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Frame_Shift_Del_p.LK125fs|RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.LK125fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	125					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCAGATCCTTCAACCGCTGTTCGC	0.478													55	131	---	---	---	---					
NEK3	4752	broad.mit.edu	37	13	52707832	52707832	+	Frame_Shift_Del	DEL	C	C	-	rs34488913	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:52707832delC	ENST00000452082.2	-	13	2671	c.1441delG	c.(1441-1443)gagfs	p.E481fs	NEK3_ENST00000339406.3_Frame_Shift_Del_p.E477fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.E477fs|NEK3_ENST00000400357.2_Frame_Shift_Del_p.E460fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	477					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACGTGTCCTCCTCATCTAGC	0.488													2	4	---	---	---	---					
SMTNL2	342527	broad.mit.edu	37	17	4510756	4510756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:4510756delT	ENST00000389313.4	+	8	1427	c.1360delT	c.(1360-1362)tacfs	p.Y454fs	SMTNL2_ENST00000338859.4_Frame_Shift_Del_p.Y310fs	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	454	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCAGTCGCTGTACAACCACCT	0.612													117	91	---	---	---	---					
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704													4	8	---	---	---	---					
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs142406301	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function					5	10	---	---	---	---					
CSNK1E	1454	broad.mit.edu	37	22	38696882	38696883	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:38696882_38696883delGC	ENST00000396832.1	-	5	671_672	c.411_412delGC	c.(409-414)gggctgfs	p.L138fs	CSNK1E_ENST00000405675.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000400206.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000359867.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000413574.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000403904.1_Frame_Shift_Del_p.L138fs	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	138	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTCTTCCCCAGCCCCATGAGGA	0.584													72	68	---	---	---	---					
CACNA1F	778	broad.mit.edu	37	X	49089732	49089749	+	In_Frame_Del	DEL	GAAGGATTCTCTCACCTT	GAAGGATTCTCTCACCTT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT	ENST00000376251.1	-	1	22_39	c.23_40delAAGGTGAGAGAATCCTTC	c.(22-42)aaaggtgagagaatccttcca>aca	p.8_14KGERILP>T	CACNA1F_ENST00000323022.5_Splice_Site_p.KG8del|CACNA1F_ENST00000376265.2_Splice_Site_p.KG8del	NM_001256790.1	NP_001243719.1	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	8					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC	0.578													11	26	---	---	---	---					
