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
MUC16	94025	broad.mit.edu	37	19	9062546	9062546	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:9062546G>A	ENST00000397910.4	-	3	25103	c.24900C>T	c.(24898-24900)ctC>ctT	p.L8300L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8302	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAGGGTTGAGAAGAGAAG	0.512000													35	31					0	0	0.000953801	0	0
RSBN1L	222194	broad.mit.edu	37	7	77408174	77408174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:77408174C>T	ENST00000334955.7	+	8	2257	c.2230C>T	c.(2230-2232)Cat>Tat	p.H744Y	RSBN1L_ENST00000445288.1_Missense_Mutation_p.H474Y	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	744						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGATAAACTTCATTCTAAATA	0.358000													28	25					0	0	0.000878237	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256742	32256742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:32256742G>A	ENST00000360482.2	-	16	3242	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	SPOCD1_ENST00000533231.1_Missense_Mutation_p.S1025F|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S518F	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1038					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ACTGTTGAAGGAGACCATCTT	0.582000													15	11					0	0	0.000566183	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542775	26542775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:26542775G>A	ENST00000381655.2	+	35	3477	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R1047Q	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1072					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCAAGTCTCGAGTCCTGGGA	0.537000													10	24					0	0	0.000978159	0	0
ITGAD	3681	broad.mit.edu	37	16	31424248	31424248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:31424248G>A	ENST00000389202.2	+	15	1846	c.1797G>A	c.(1795-1797)atG>atA	p.M599I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	599					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGACTGATGGACCTGGCCG	0.667000													26	36					0	0	0.000720815	0	0
CORO2B	10391	broad.mit.edu	37	15	69007647	69007647	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:69007647C>T	ENST00000543950.1	+	8	1303	c.949C>T	c.(949-951)Cta>Tta	p.L317L	CORO2B_ENST00000261861.5_Silent_p.L317L|CORO2B_ENST00000540068.1_Silent_p.L317L|CORO2B_ENST00000566799.1_Silent_p.L322L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	322					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCAGAAAGGCCTAGGTAAGTG	0.592000													30	26					0	0	0.001512	0	0
GALNT8	26290	broad.mit.edu	37	12	4872486	4872486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:4872486C>T	ENST00000252318.2	+	8	1764	c.1427C>T	c.(1426-1428)aCt>aTt	p.T476I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	476						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAATGTAAAACTTTTGACTGG	0.388000													26	37					0	0	0.000586117	0	0
GAB3	139716	broad.mit.edu	37	X	153908421	153908421	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:153908421G>A	ENST00000369575.3	-	9	1663	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	GAB3_ENST00000424127.2_Silent_p.A545A|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	544										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGCATGGGGGCTGGTGATG	0.478000													103	33					0	0	0.000781405	0	0
ACADL	33	broad.mit.edu	37	2	211068111	211068111	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:211068111T>C	ENST00000233710.3	-	8	1155	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	310					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TAGTTCCTGGTTTCTTCAAAC	0.348000													10	18					0	0	0.000978159	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652481	45652481	+	RNA	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:45652481G>A	ENST00000427229.2	+	0	1995																											GAAAGACCTAGGAAGATCACA	0.368000													11	13					0	0	0.000151284	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054846	72054846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr14:72054846G>A	ENST00000555818.1	+	2	605	c.257G>A	c.(256-258)aGa>aAa	p.R86K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R86K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R86K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	86					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGGCCCCCAAGAAAGGAAAAC	0.502000													37	31					0	0	0.000437636	0	0
KIFC3	3801	broad.mit.edu	37	16	57793672	57793672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57793672G>A	ENST00000379655.4	-	18	2701	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	KIFC3_ENST00000540079.2_Missense_Mutation_p.P713L|KIFC3_ENST00000541240.1_Missense_Mutation_p.P837L|KIFC3_ENST00000445690.2_Missense_Mutation_p.P815L|KIFC3_ENST00000421376.2_Missense_Mutation_p.P676L|KIFC3_ENST00000539578.1_Missense_Mutation_p.P757L|KIFC3_ENST00000465878.2_Missense_Mutation_p.P676L|KIFC3_ENST00000562903.1_Missense_Mutation_p.P676L|KIFC3_ENST00000543930.1_Missense_Mutation_p.P673L	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	815					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GATGGATCCAGGGCGGCTACT	0.672000													11	21					0	0	0.000978159	0	0
MIIP	60672	broad.mit.edu	37	1	12089851	12089851	+	Silent	SNP	C	C	T	rs2295290	by1000genomes	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:12089851C>T	ENST00000235332.4	+	7	914	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.L249L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	249	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAACCGGCGCCTGTTCCCGGT	0.692000													8	14					0	0	0.000274275	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			44	79					3.05275e-18	2.34281e-17	0.000680045	1	0
TMIGD2	126259	broad.mit.edu	37	19	4298316	4298316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:4298316C>T	ENST00000301272.2	-	2	118	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.V25M|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	25	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGCACGCTCAGGCTT	0.622000													12	12					0	0	0.000151284	0	0
DCHS2	54798	broad.mit.edu	37	4	155157701	155157701	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:155157701G>A	ENST00000357232.3	-	25	6737	c.6738C>T	c.(6736-6738)atC>atT	p.I2246I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2246	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATGTTGTAGATGATTTCTG	0.408000													24	56					0	0	0.000295444	0	0
FAM81B	153643	broad.mit.edu	37	5	94764394	94764394	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:94764394C>T	ENST00000283357.5	+	6	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	248								p.F248F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTCAAGAATTCGTGCCCGCCC	0.408000													25	51					0	0	0.000878237	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140222821G>A	ENST00000531613.1	+	1	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E639K	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647000													26	61					0	0	0.000409698	0	0
RP1L1	94137	broad.mit.edu	37	8	10466270	10466270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:10466270C>T	ENST00000382483.3	-	4	5561	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1780					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACTGGTTTCACTGTTGTGG	0.567000													67	54					0	0	0.000781405	0	0
UBR1	197131	broad.mit.edu	37	15	43244481	43244481	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:43244481G>A	ENST00000290650.4	-	45	5079	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1667					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTCACTTTAGGAAAATGCAGA	0.458000													40	82					0	0	0.00170553	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147735	100147735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:100147735C>T	ENST00000231461.5	-	5	1206	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	299					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGGCCAGAATCCATACAGGTG	0.393000													23	32					0	0	0.000375601	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808469	100808469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:100808469C>T	ENST00000372829.3	+	4	927	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	186						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TACAACATGGCCTGTCCGGAG	0.532000													60	11					0	0	0.000781405	0	0
FRMPD2	143162	broad.mit.edu	37	10	49431253	49431253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:49431253C>T	ENST00000374201.3	-	11	1531	c.1229G>A	c.(1228-1230)tGg>tAg	p.W410*	FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.W379*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.W386*	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	410	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGCTCTCTCCAGCCTTCAGG	0.468000													21	36					0	0	0.000375601	0	0
HECTD4	283450	broad.mit.edu	37	12	112622260	112622260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:112622260C>T	ENST00000550722.1	-	61	10467	c.10072G>A	c.(10072-10074)Gtc>Atc	p.V3358I	HECTD4_ENST00000377560.5_Missense_Mutation_p.V3332I|HECTD4_ENST00000430131.2_Missense_Mutation_p.V3082I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGTCGCTGACGGTTTGGGAG	0.687000													6	16					0	0	8.12818e-05	0	0
C3orf20	84077	broad.mit.edu	37	3	14744697	14744697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:14744697C>T	ENST00000253697.3	+	6	1258	c.806C>T	c.(805-807)cCt>cTt	p.P269L	C3orf20_ENST00000412910.1_Missense_Mutation_p.P147L|C3orf20_ENST00000435614.1_Missense_Mutation_p.P147L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	269						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTGGGAACCCCTGCCAACAGC	0.592000													42	87					0	0	0.000781405	0	0
OR5H6	79295	broad.mit.edu	37	3	97983134	97983134	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:97983134C>T	ENST00000383696.2	+	1	47	c.6C>T	c.(4-6)ttC>ttT	p.F2F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGCAAATGTTCCTTTACCTTT	0.363000													22	35					0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179485350	179485350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:179485350C>T	ENST00000589042.1	-	248	46122	c.45898G>A	c.(45898-45900)Gaa>Aaa	p.E15300K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12732K|TTN_ENST00000359218.5_Missense_Mutation_p.E6360K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6427K|TTN_ENST00000460472.2_Missense_Mutation_p.E6235K|TTN_ENST00000591111.1_Missense_Mutation_p.E13659K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13659	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAGGTCTTCCTCTGTTGTA	0.313000													27	21					0	0	0.000878237	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433515	69433515	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:69433515G>A	ENST00000317746.2	-	1	730	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	230					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTTCTTCAGATCATATGCT	0.333000													67	95					0	0	0.000781405	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817061	69817061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:69817061C>T	ENST00000251566.4	-	1	448	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	140						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGTTGGTTTCCTGTAGCTTC	0.368000													11	25					0	0	0.000978159	0	0
PKP4	8502	broad.mit.edu	37	2	159497153	159497153	+	Missense_Mutation	SNP	G	G	A	rs144253065		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:159497153G>A	ENST00000389757.3	+	10	1702	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	PKP4_ENST00000389759.3_Missense_Mutation_p.R526H	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	526					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTGCCTGGCGTGATCCTGAG	0.468000										HNSCC(62;0.18)			35	61					0	0	0.00128727	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503831	140503831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140503831G>A	ENST00000194152.1	+	1	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.597000													42	67					0	0	0.000509022	0	0
LELP1	149018	broad.mit.edu	37	1	153177401	153177401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:153177401C>T	ENST00000368747.1	+	2	328	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	73	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCCCAGCCCTGCACCAAG	0.617000													16	37					0	0	0.000422831	0	0
RYR3	6263	broad.mit.edu	37	15	34021145	34021145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:34021145G>A	ENST00000389232.4	+	47	7191	c.7121G>A	c.(7120-7122)gGc>gAc	p.G2374D	RYR3_ENST00000415757.3_Missense_Mutation_p.G2374D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGCGTTTATGGCATTAAGGAT	0.468000													11	25					0	0	0.000978159	0	0
EXD1	161829	broad.mit.edu	37	15	41476472	41476472	+	Missense_Mutation	SNP	C	C	T	rs143293058	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:41476472C>T	ENST00000314992.5	-	10	1392	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E	EXD1_ENST00000458580.2_Missense_Mutation_p.G459E	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	401					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ACTGGTTTCCCCTTCCTCTGT	0.403000													38	72					0	0	0.00128727	0	0
NEB	4703	broad.mit.edu	37	2	152510568	152510568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:152510568C>T	ENST00000397345.3	-	52	7055	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	NEB_ENST00000603639.1_Missense_Mutation_p.D2285N|NEB_ENST00000604864.1_Missense_Mutation_p.D2285N|NEB_ENST00000427231.2_Missense_Mutation_p.D2285N|NEB_ENST00000172853.10_Missense_Mutation_p.D2285N|NEB_ENST00000409198.1_Missense_Mutation_p.D2285N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2285					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGGAGATCATAGCCTTTC	0.323000													14	37					0	0	0.000566183	0	0
SPEN	23013	broad.mit.edu	37	1	16265266	16265266	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:16265266G>A	ENST00000375759.3	+	14	10962	c.10758G>A	c.(10756-10758)gaG>gaA	p.E3586E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3586	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGACCAAGAGGATGTTGTGA	0.602000													14	25					0	0	0.000219431	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201761	96201761	+	Silent	SNP	C	C	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:96201761C>A	ENST00000225235.4	+	2	1190	c.1080C>A	c.(1078-1080)tcC>tcA	p.S360S		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	360						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGAAAACATCCAAAATCATTC	0.348000													15	34					2.23348e-06	1.69827e-05	0.000422831	1	0
PTCHD1	139411	broad.mit.edu	37	X	23411489	23411489	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:23411489G>A	ENST00000379361.4	+	3	2714	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	618					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.L618L(1)|p.L513L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATTCCTTTCTGAAAGCCCCTC	0.388000													38	16					0	0	0.00148497	0	0
FHDC1	85462	broad.mit.edu	37	4	153896869	153896869	+	Missense_Mutation	SNP	C	C	T	rs141856992	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:153896869C>T	ENST00000511601.1	+	12	2614	c.2426C>T	c.(2425-2427)tCc>tTc	p.S809F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S809F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	809					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCTCCATGTCCTCTGGGGTT	0.652000													29	44					0	0	0.00127121	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557806	9557806	+	RNA	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:9557806G>A	ENST00000408348.1	-	0	131					NR_031688.1																						GATCAGGGACGAACTTTGTTA	0.383000													28	64					0	0	0.00127121	0	0
NACA	4666	broad.mit.edu	37	12	57112329	57112329	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:57112329G>A	ENST00000454682.1	-	3	3266	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTCCTTTGGGGGAGGGAGGAG	0.657000			T	BCL6	NHL								12	25					0	0	0.00136819	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287589	160287589	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:160287589T>C	ENST00000392783.2	-	10	2474	c.1979A>G	c.(1978-1980)gAt>gGt	p.D660G	BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D658G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D660G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	660	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGTATCACTATCTGATTCATC	0.373000													24	43					0	0	0.00047179	0	0
OR10C1	442194	broad.mit.edu	37	6	29408527	29408527	+	Silent	SNP	C	C	T	rs138514441	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:29408527C>T	ENST00000444197.2	+	1	1445	c.735C>T	c.(733-735)atC>atT	p.I245I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCACCTGATCATGGTCTCCC	0.582000													130	242					0	0	0.000781405	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261292	21261292	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:21261292G>A	ENST00000311620.5	+	2	478	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	135										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TCACCAGGCTGAAGGAGCAGG	0.542000													14	17					0	0	0.000219431	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													5	97					0	0	0.000602214	0	0
GPR19	2842	broad.mit.edu	37	12	12814919	12814919	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:12814919A>G	ENST00000540510.1	-	2	656	c.464T>C	c.(463-465)gTt>gCt	p.V155A	GPR19_ENST00000332427.2_Missense_Mutation_p.V155A			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	155						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GGAGAGGAGAACGTAGATCTG	0.502000													18	46					0	0	0.00074312	0	0
NAA15	80155	broad.mit.edu	37	4	140278564	140278564	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:140278564C>G	ENST00000296543.5	+	11	1435	c.1112C>G	c.(1111-1113)aCc>aGc	p.T371S	NAA15_ENST00000398947.1_Missense_Mutation_p.T371S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	371					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAACCACCAACCACATTACTT	0.408000													18	33					0	0	0.000958276	0	0
CRISP3	10321	broad.mit.edu	37	6	49696475	49696475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:49696475C>T	ENST00000433368.2	-	8	844	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CRISP3_ENST00000423399.2_Missense_Mutation_p.A146T|CRISP3_ENST00000393666.1_Missense_Mutation_p.A236T|CRISP3_ENST00000263045.4_Missense_Mutation_p.A249T|CRISP3_ENST00000371159.4_Missense_Mutation_p.A267T	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	236					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCAGGAGGCCTTGCAACTG	0.403000													30	58					0	0	0.000409698	0	0
KATNB1	10300	broad.mit.edu	37	16	57787310	57787310	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57787310G>A	ENST00000379661.3	+	12	1448	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	352	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGGTGAAGCAGAACTCAGAGA	0.662000													6	13					0	0	0.00116845	0	0
ADRA2C	152	broad.mit.edu	37	4	3769530	3769530	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:3769530C>T	ENST00000330055.5	+	1	1406	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	399					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCCCCTTCTTCTTCAGCTACA	0.632000													6	14					0	0	8.12818e-05	0	0
FNDC4	64838	broad.mit.edu	37	2	27717446	27717446	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:27717446A>G	ENST00000264703.3	-	2	492	c.101T>C	c.(100-102)cTg>cCg	p.L34P		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	34						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACAGCTGACCAGCAGGAGGAC	0.602000													4	8					0	0	0.00024832	0	0
STEAP3	55240	broad.mit.edu	37	2	120003519	120003519	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:120003519C>T	ENST00000354888.5	+	3	951	c.447C>T	c.(445-447)atC>atT	p.I149I	STEAP3_ENST00000393110.2_Silent_p.I159I|STEAP3_ENST00000450943.2_Silent_p.I149I|STEAP3_ENST00000393107.2_Silent_p.I149I|STEAP3_ENST00000393108.2_Silent_p.I149I|STEAP3_ENST00000409811.1_Silent_p.I149I|STEAP3_ENST00000393106.2_Silent_p.I149I|STEAP3_ENST00000425223.2_Silent_p.I149I|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	149					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCAATGTCATCTCTGCCTGGA	0.507000													32	60					0	0	0.00058488	0	0
DNAH5	1767	broad.mit.edu	37	5	13759068	13759068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:13759068G>A	ENST00000265104.4	-	61	10410	c.10306C>T	c.(10306-10308)Cgc>Tgc	p.R3436C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGAGATGGCGATTCTCTTGC	0.547000									Kartagener syndrome				38	86					0	0	0.000374591	0	0
DFNA5	1687	broad.mit.edu	37	7	24738856	24738856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:24738856C>T	ENST00000545231.1	-	12	1938	c.788G>A	c.(787-789)gGa>gAa	p.G263E	DFNA5_ENST00000409970.1_Missense_Mutation_p.G263E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G427E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G263E|DFNA5_ENST00000342947.3_Missense_Mutation_p.G427E			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	427					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ATCAGATACTCCATCATCAGA	0.408000													15	63					0	0	0.000308642	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140109	57140109	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:57140109G>A	ENST00000371244.4	+	2	216	c.150G>A	c.(148-150)caG>caA	p.Q50Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	50	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TAAATAGACAGAAGATTCGCA	0.289000													32	52					0	0	0.000692331	0	0
ALX4	60529	broad.mit.edu	37	11	44286626	44286626	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:44286626G>A	ENST00000329255.3	-	4	1117	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	338					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAGCCAGGGGGGTGGGCAT	0.687000													13	10					0	0	0.00136819	0	0
GBP5	115362	broad.mit.edu	37	1	89732656	89732656	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:89732656G>A	ENST00000343435.5	-	6	1145	c.609C>T	c.(607-609)tcC>tcT	p.S203S	GBP5_ENST00000370459.3_Silent_p.S203S|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	203						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGCCTTAGGGAATTCTCCA	0.388000													43	93					0	0	0.000781405	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690205	84690205	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:84690205C>T	ENST00000286744.5	+	26	4541	c.4317C>T	c.(4315-4317)acC>acT	p.T1439T	ADAMTSL3_ENST00000567476.1_Silent_p.T1439T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1439	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTTCTGCCACCTGTGGTCATT	0.527000													48	94					0	0	0.000781405	0	0
TMEM196	256130	broad.mit.edu	37	7	19765299	19765299	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:19765299G>A	ENST00000405844.1	-	3	992	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TMEM196_ENST00000433641.1_Silent_p.S31S|TMEM196_ENST00000422233.1_Silent_p.S31S|TMEM196_ENST00000405764.3_Silent_p.S99S|TMEM196_ENST00000493519.1_Silent_p.S31S			Q5HYL7	TM196_HUMAN	transmembrane protein 196	105						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTGGGTATAGGGAGGAAGTTT	0.512000													18	98					0	0	0.00121646	0	0
FAM178A	55719	broad.mit.edu	37	10	102705132	102705132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:102705132C>T	ENST00000238961.3	+	13	2951	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	FAM178A_ENST00000370269.3_Missense_Mutation_p.R935C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	935																	TTACCAGGATCGTGAAATAAT	0.313000													12	39					0	0	0.00136819	0	0
GDPD4	220032	broad.mit.edu	37	11	76990378	76990378	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:76990378G>A	ENST00000315938.4	-	3	370	c.120C>T	c.(118-120)atC>atT	p.I40I	GDPD4_ENST00000376217.2_Silent_p.I40I|GDPD4_ENST00000527489.1_Intron	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	40					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGCAGTCAGGATCCTAGCTA	0.398000													11	21					0	0	0.000308642	0	0
AFF4	27125	broad.mit.edu	37	5	132270456	132270456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:132270456C>T	ENST00000265343.5	-	3	680	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	AFF4_ENST00000378595.3_Missense_Mutation_p.G101S|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	101					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGAGAGCCTCCATGTCTC	0.468000													20	36					0	0	0.000229342	0	0
DYNAP	284254	broad.mit.edu	37	18	52265075	52265075	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr18:52265075T>G	ENST00000321600.1	+	3	378	c.332T>G	c.(331-333)aTg>aGg	p.M111R	DYNAP_ENST00000585973.1_Missense_Mutation_p.M59R	NM_173629.1	NP_775900.1			dynactin associated protein																		GACTGGTCTATGTGGAAAGTC	0.343000													42	34					0	0	0.000781405	0	0
ALX4	60529	broad.mit.edu	37	11	44286625	44286625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:44286625G>A	ENST00000329255.3	-	4	1118	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	339					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGAGCCAGGGGGGTGGGCA	0.692000													12	10					0	0	0.000978159	0	0
PALM2	114299	broad.mit.edu	37	9	112694226	112694226	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:112694226C>T	ENST00000448454.2	+	7	420	c.420C>T	c.(418-420)tcC>tcT	p.S140S	PALM2_ENST00000314527.4_Silent_p.S138S|PALM2-AKAP2_ENST00000374530.3_Silent_p.S138S|PALM2-AKAP2_ENST00000302798.7_Silent_p.S138S|PALM2_ENST00000374531.2_Intron|AKAP2_ENST00000555236.1_Silent_p.S138S|AKAP2_ENST00000510514.5_Silent_p.S138S|PALM2_ENST00000483909.1_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ATTACATTTCCTCCCAGCTTC	0.542000													55	74					0	0	0.000781405	0	0
C5orf20	140947	broad.mit.edu	37	5	134782686	134782686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:134782686G>A	ENST00000503143.2	-	1	352	c.113C>T	c.(112-114)cCa>cTa	p.P38L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	38						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCACCCTGGGAACTCTGG	0.612000													7	15					0	0	8.12818e-05	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950834	127950834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:127950834C>T	ENST00000335247.7	-	7	968	c.838G>A	c.(838-840)Gat>Aat	p.D280N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.D280N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	280						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AAGTTCTCATCCTGGTACGAT	0.537000													24	47					0	0	0.00106085	0	0
KRT15	3866	broad.mit.edu	37	17	39673078	39673078	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:39673078C>T	ENST00000254043.3	-	3	4305	c.720G>A	c.(718-720)ctG>ctA	p.L240L	KRT15_ENST00000393974.3_Silent_p.L75L|KRT15_ENST00000393976.2_Silent_p.L240L|KRT15_ENST00000393981.3_Silent_p.L75L	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	240	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTTCTTCTTCAGGTAGGCTA	0.577000													19	39					0	0	0.000229342	0	0
CFAP54	144535	broad.mit.edu	37	12	97078996	97078996	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:97078996C>T	ENST00000524981.3	+	9	1347	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V				Q6ZTY8	CL063_HUMAN		423										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGGAGCAGTCATATCAGCAA	0.498000													15	24					0	0	0.000422831	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744219	234744219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:234744219G>A	ENST00000366609.3	-	1	1052	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Intron	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GGCCCCGTTGGCCTCGAAACC	0.627000													6	16					0	0	8.12818e-05	0	0
AFAP1	60312	broad.mit.edu	37	4	7780554	7780554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:7780554C>T	ENST00000420658.1	-	14	2104	c.1832G>A	c.(1831-1833)gGg>gAg	p.G611E	AFAP1_ENST00000358461.2_Missense_Mutation_p.G527E|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.G611E|AFAP1_ENST00000360265.4_Missense_Mutation_p.G527E	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	564	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAGAGTCTTCCCTTTTCCTGT	0.453000													50	79					0	0	0.000781405	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435568	145435568	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:145435568C>T	ENST00000511217.1	+	7	1399	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	SH3RF2_ENST00000359120.4_Silent_p.S449S|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	449							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGACTCCCGGAGCCCTG	0.438000													110	155					0	0	0.000781405	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525537	150525537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:150525537G>A	ENST00000271643.4	+	5	478	c.242G>A	c.(241-243)aGt>aAt	p.S81N	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S81N|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S81N|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S81N	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	81	TSP type-1 1.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCCGAGTCTGCCCCTC	0.687000													10	24					0	0	0.000442599	0	0
PLAG1	5324	broad.mit.edu	37	8	57079566	57079566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:57079566G>A	ENST00000316981.3	-	5	1218	c.739C>T	c.(739-741)Cca>Tca	p.P247S	PLAG1_ENST00000423799.2_Missense_Mutation_p.P165S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P247S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	247	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAATCCACTGGTTCTGTTTTG	0.448000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								58	161					0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10078752	10078752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:10078752G>A	ENST00000264828.3	-	60	4403	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1440	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGACCAGGGGGACCCTAGGAA	0.587000													13	38					0	0	0.000151284	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949971	235949971	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:235949971C>T	ENST00000409212.1	+	4	1065	c.558C>T	c.(556-558)ccC>ccT	p.P186P	SH3BP4_ENST00000392011.2_Silent_p.P186P|SH3BP4_ENST00000344528.4_Silent_p.P186P			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	186					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCTGAATCCCAAAAGTACTG	0.502000													24	53					0	0	0.000375601	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656197	167656197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:167656197G>A	ENST00000357154.3	-	12	1323	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	SPOCK3_ENST00000541637.1_Missense_Mutation_p.H298Y|SPOCK3_ENST00000421836.2_Missense_Mutation_p.H345Y|SPOCK3_ENST00000534949.1_Missense_Mutation_p.H300Y|SPOCK3_ENST00000357545.4_Missense_Mutation_p.H393Y|SPOCK3_ENST00000511531.1_Missense_Mutation_p.H396Y|SPOCK3_ENST00000535728.1_Missense_Mutation_p.H264Y|SPOCK3_ENST00000506886.1_Missense_Mutation_p.H396Y|SPOCK3_ENST00000504953.1_Missense_Mutation_p.H393Y|SPOCK3_ENST00000512681.1_Missense_Mutation_p.H298Y|SPOCK3_ENST00000541354.1_Missense_Mutation_p.H276Y|SPOCK3_ENST00000510741.1_Missense_Mutation_p.H353Y|SPOCK3_ENST00000502330.1_Missense_Mutation_p.H396Y|SPOCK3_ENST00000511269.1_Missense_Mutation_p.H393Y|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	396	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		gtccattcatgaaaatcgcca	0.348000													21	41					0	0	0.000586117	0	0
DNAH7	56171	broad.mit.edu	37	2	196640651	196640651	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:196640651G>A	ENST00000312428.6	-	60	11221	c.11121C>T	c.(11119-11121)atC>atT	p.I3707I	DNAH7_ENST00000409063.1_Silent_p.I190I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3707					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCCCAAAGATTTCTGGTG	0.408000													15	33					0	0	0.000308642	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455982	110455982	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:110455982A>G	ENST00000378402.5	+	37	4746	c.4642A>G	c.(4642-4644)Acc>Gcc	p.T1548A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1548					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGAACAATACCAGGGTTAA	0.433000										HNSCC(38;0.096)			8	40					0	0	0.000157383	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													9	41					0	0	0.000219431	0	0
GZF1	64412	broad.mit.edu	37	20	23345626	23345626	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:23345626G>A	ENST00000338121.5	+	2	683	c.606G>A	c.(604-606)aaG>aaA	p.K202K	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Silent_p.K202K			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	202					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGAAGTCCAAGGACAAACTAG	0.522000													26	32					0	0	0.000878237	0	0
EVPL	2125	broad.mit.edu	37	17	74005145	74005145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74005145C>T	ENST00000301607.3	-	22	4394	c.4141G>A	c.(4141-4143)Gac>Aac	p.D1381N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1403N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1381	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCTTCGGGTCCTTCTGGGTG	0.687000													32	115					0	0	0.000409698	0	0
MUC5B	727897	broad.mit.edu	37	11	1263109	1263109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:1263109G>A	ENST00000447027.1	+	31	5066	c.5008G>A	c.(5008-5010)Ggt>Agt	p.G1670S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1667S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1667	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGCACCCTTGGTACAGCCAC	0.657000													8	1					0	0	0.000442599	0	0
RBM34	23029	broad.mit.edu	37	1	235299069	235299069	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:235299069G>A	ENST00000408888.3	-	10	1136	c.906C>T	c.(904-906)gcC>gcT	p.A302A	RBM34_ENST00000366606.3_Silent_p.A297A|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	302	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GCTTCTCAATGGCAGATTCTT	0.413000													67	47					0	0	0.000781405	0	0
LRIG1	26018	broad.mit.edu	37	3	66434512	66434512	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:66434512G>A	ENST00000273261.3	-	14	2498	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	LRIG1_ENST00000383703.3_Intron|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	658	Ig-like C2-type 2.					integral to membrane				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)		CATCAGTGATGAAAAACACGT	0.527000													19	35					0	0	0.00074312	0	0
JMJD6	23210	broad.mit.edu	37	17	74719857	74719857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74719857G>A	ENST00000445478.2	-	3	1005	c.802C>T	c.(802-804)Cca>Tca	p.P268S	JMJD6_ENST00000397625.4_Missense_Mutation_p.P268S|JMJD6_ENST00000585429.1_Missense_Mutation_p.P268S	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	268	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCTATACCTGGTACAAAGACA	0.493000													37	84					0	0	0.00148497	0	0
NRP1	8829	broad.mit.edu	37	10	33481310	33481310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:33481310C>T	ENST00000265371.4	-	14	2486	c.1961G>A	c.(1960-1962)tGg>tAg	p.W654*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.W654*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.W654*			O14786	NRP1_HUMAN	neuropilin 1	654	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTGAGAGCCCCAGCCAAATTC	0.453000													98	168					0	0	0.000781405	0	0
GPR110	266977	broad.mit.edu	37	6	46979926	46979926	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:46979926G>A	ENST00000371253.2	-	10	1148	c.933C>T	c.(931-933)ttC>ttT	p.F311F	GPR110_ENST00000283297.5_Silent_p.F114F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCATACTGAAATTCTAGA	0.393000													29	38					0	0	0.00178596	0	0
COBL	23242	broad.mit.edu	37	7	51097022	51097022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:51097022C>T	ENST00000395542.2	-	12	2201	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	COBL_ENST00000265136.7_Missense_Mutation_p.E591K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	591										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGCCTTTTCATGGGGCTGG	0.537000													12	39					0	0	0.00136819	0	0
MYO5A	4644	broad.mit.edu	37	15	52656776	52656776	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:52656776A>G	ENST00000399231.3	-	24	3527	c.3284T>C	c.(3283-3285)cTc>cCc	p.L1095P	MYO5A_ENST00000356338.6_Missense_Mutation_p.L1095P|MYO5A_ENST00000553916.1_Missense_Mutation_p.L1095P|MYO5A_ENST00000358212.6_Missense_Mutation_p.L1095P|MYO5A_ENST00000399233.2_Missense_Mutation_p.L1095P	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1095					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCCTTGAGGTCATCATA	0.343000													34	59					0	0	0.000692331	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:23937634C>T	ENST00000402377.3	-	3	358	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E4K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000													37	55					0	0	0.00170553	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463794	24463794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:24463794C>T	ENST00000270800.1	-	3	220	c.182G>A	c.(181-183)gGa>gAa	p.G61E		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	61	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTCCCTCTCTCCGTACCTGCA	0.562000													23	32					0	0	0.000295444	0	0
ATM	472	broad.mit.edu	37	11	108199955	108199955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:108199955C>T	ENST00000278616.4	+	49	7682	c.7297C>T	c.(7297-7299)Cag>Tag	p.Q2433*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Nonsense_Mutation_p.Q2433*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2433	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACATAAAATTCAGACAAACAG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	3					0	0	0.000157383	0	0
CBL	867	broad.mit.edu	37	11	119155775	119155775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:119155775C>T	ENST00000264033.4	+	10	1904	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	510	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AGTATGTGTTCCCTCAAGTGC	0.507000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	23					0	0	0.000374591	0	0
QRICH2	84074	broad.mit.edu	37	17	74287236	74287236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74287236G>A	ENST00000262765.5	-	4	3253	c.3074C>T	c.(3073-3075)cCc>cTc	p.P1025L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1025							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CACTGCCGTGGGGAAACTAGA	0.532000													75	99					0	0	0.000781405	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948635	133948635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:133948635G>A	ENST00000298622.4	+	4	1078	c.940G>A	c.(940-942)Gca>Aca	p.A314T		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGACCGCAATGCATTGCTGTC	0.567000													9	28					0	0	0.000442599	0	0
PCDH17	27253	broad.mit.edu	37	13	58206800	58206800	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:58206800G>A	ENST00000377918.3	+	1	146	c.120G>A	c.(118-120)agG>agA	p.R40R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	40	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACATCGGCAGGGATGCTCGAC	0.667000													8	18					0	0	0.000274275	0	0
ITGA8	8516	broad.mit.edu	37	10	15729985	15729985	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:15729985G>A	ENST00000378076.3	-	3	749	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	132					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCACTGATTGGATTTGAACT	0.428000													33	68					0	0	0.000814825	0	0
NFYA	4800	broad.mit.edu	37	6	41051789	41051789	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:41051789A>T	ENST00000341376.6	+	4	368	c.167A>T	c.(166-168)cAa>cTa	p.Q56L	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.Q27L	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	56	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTAGGTCCAAGGGCAGCCA	0.443000													19	12					0	0	0.00152264	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:52941587C>T	ENST00000332323.6	+	4	974	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H292Y|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000													12	30					0	0	0.00136819	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													6	108					0	0	0.000274275	0	0
CXCL14	9547	broad.mit.edu	37	5	134907551	134907551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:134907551C>T	ENST00000337225.5	-	4	792	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CXCL14_ENST00000512158.1_Missense_Mutation_p.E98K|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	110					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	p.E110K(1)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTATTCTTCGTAGACCCTG	0.428000													7	15					0	0	0.000442599	0	0
KATNB1	10300	broad.mit.edu	37	16	57790379	57790379	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57790379G>A	ENST00000379661.3	+	19	2222	c.1830G>A	c.(1828-1830)gaG>gaA	p.E610E		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	610	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TCAGCAGGGAGGAGAGGTGAG	0.642000													22	43					0	0	0.00152264	0	0
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:189068016C>T	ENST00000332517.3	+	6	1037	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512000													60	102					0	0	0.000781405	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762210	24762210	+	Silent	SNP	C	C	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:24762210C>A	ENST00000376451.2	+	2	314	c.54C>A	c.(52-54)ccC>ccA	p.P18P	KIAA1217_ENST00000376452.3_Silent_p.P300P|KIAA1217_ENST00000430453.2_Silent_p.P221P|KIAA1217_ENST00000307544.6_Silent_p.P18P|KIAA1217_ENST00000396445.1_Silent_p.P18P|KIAA1217_ENST00000458595.1_Silent_p.P300P|KIAA1217_ENST00000396446.1_Silent_p.P18P|KIAA1217_ENST00000376462.1_Silent_p.P220P|KIAA1217_ENST00000376454.3_Silent_p.P300P			Q5T5P2	SKT_HUMAN	KIAA1217	300					embryonic skeletal system development	cytoplasm		p.P300P(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCCTCGCCCCGGATCTACTG	0.527000													39	47					5.78141e-17	4.41636e-16	0.000680045	1	0
CRB1	23418	broad.mit.edu	37	1	197390437	197390437	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:197390437C>T	ENST00000367400.3	+	6	1614	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.F381F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.F424F|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.F493F|CRB1_ENST00000543483.1_Silent_p.F192F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	493	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCGATGGCTTCCTGTGGGTCA	0.507000													18	68					0	0	0.000566183	0	0
COL7A1	1294	broad.mit.edu	37	3	48630291	48630291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:48630291C>T	ENST00000328333.8	-	6	870	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A255T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	255	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		GGGCCACTGGCCGCTGTCCAC	0.617000													11	26					0	0	0.000673444	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212086	26212086	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:26212086C>T	ENST00000379034.1	+	2	272	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	41	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCCACTCTTCCTCATCCTCTT	0.572000													22	2					0	0	0.00047179	0	0
NID1	4811	broad.mit.edu	37	1	236148724	236148724	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:236148724T>C	ENST00000264187.6	-	15	3092	c.3010A>G	c.(3010-3012)Aga>Gga	p.R1004G	NID1_ENST00000366595.3_Missense_Mutation_p.R871G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1004					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGACTAGCTCTCCCAATGGAA	0.458000													24	76					0	0	0.000375601	0	0
SCLT1	132320	broad.mit.edu	37	4	129965185	129965185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:129965185C>T	ENST00000281142.5	-	3	627	c.124G>A	c.(124-126)Gga>Aga	p.G42R	SCLT1_ENST00000503215.1_Missense_Mutation_p.G19R|SCLT1_ENST00000503401.1_Missense_Mutation_p.G19R|SCLT1_ENST00000439369.2_Missense_Mutation_p.G42R|SCLT1_ENST00000434680.1_Missense_Mutation_p.G42R|SCLT1_ENST00000511426.1_Missense_Mutation_p.G42R|SCLT1_ENST00000506368.1_Missense_Mutation_p.G42R	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	42						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTGTCGTCTCCTTCTCCTTGG	0.284000													19	28					0	0	0.000720815	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714454	138714454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:138714454G>A	ENST00000389532.4	-	11	2117	c.2053C>T	c.(2053-2055)Ctt>Ttt	p.L685F	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L407F|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L696F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	685						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATCCGCCAAGGGCCAGAGGC	0.587000													6	20					0	0	8.12818e-05	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432366	140432366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140432366G>A	ENST00000306549.3	+	1	1388	c.1311G>A	c.(1309-1311)atG>atA	p.M437I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGACTATGATAGAGGTGC	0.448000													47	56					0	0	0.000781405	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453352	22453352	+	RNA	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:22453352C>T	ENST00000390283.2	+	0	144																											CAGGAGCCATCGTTCTCAGTG	0.522000													10	27					0	0	0.000978159	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467575	129467575	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:129467575G>A	ENST00000442111.2	+	12	1069	c.981G>A	c.(979-981)caG>caA	p.Q327Q	GLT1D1_ENST00000542193.1_Silent_p.Q244Q|GLT1D1_ENST00000537468.1_Silent_p.Q332Q|GLT1D1_ENST00000281703.6_Silent_p.Q247Q			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	327					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATTCATGGCAGGTGGAAAGAG	0.483000													51	84					0	0	0.000781405	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216153	140216153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140216153G>A	ENST00000525929.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTCCTCTGAGGGCGCATG	0.617000													20	34					0	0	0.00121646	0	0
CD163L1	283316	broad.mit.edu	37	12	7528574	7528574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:7528574G>A	ENST00000313599.3	-	10	2465	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P803L|CD163L1_ENST00000416109.2_Missense_Mutation_p.P813L|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	803	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCAGAGCAGGGCATATCAGC	0.453000													28	36					0	0	0.00058488	0	0
CD300E	342510	broad.mit.edu	37	17	72610156	72610156	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:72610156C>T	ENST00000392619.1	-	3	521	c.486G>A	c.(484-486)agG>agA	p.R162R	CD300E_ENST00000426295.2_Silent_p.R176R|CD300E_ENST00000328630.3_Silent_p.R135R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	135						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGTGGTCCTCCTTGGGGTTG	0.542000													14	41					0	0	0.000308642	0	0
MCMBP	79892	broad.mit.edu	37	10	121618605	121618605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:121618605G>A	ENST00000360003.3	-	3	402	c.233C>T	c.(232-234)cCt>cTt	p.P78L	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.P78L	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	78					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTAAAACTCAGGGTCAAACAT	0.333000													20	25					0	0	0.00121646	0	0
EPHA3	2042	broad.mit.edu	37	3	89480458	89480458	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:89480458C>T	ENST00000336596.2	+	13	2520	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	EPHA3_ENST00000494014.1_Silent_p.F765F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	765	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTCTGATTTCGGACTTTCGC	0.438000										TSP Lung(6;0.00050)			12	26					0	0	0.000151284	0	0
OAZ2	4947	broad.mit.edu	37	15	64982719	64982719	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:64982719G>A	ENST00000326005.6	-	4	439	c.207C>T	c.(205-207)ctC>ctT	p.L69L	OAZ2_ENST00000560258.2_Silent_p.L69L|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	69					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	CATTCACAGGGAGGTCCTGGG	0.542000													21	39					0	0	0.00121646	0	0
ERBB4	2066	broad.mit.edu	37	2	212288939	212288939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:212288939C>T	ENST00000342788.4	-	23	3117	c.2807G>A	c.(2806-2808)gGa>gAa	p.G936E	ERBB4_ENST00000402597.1_Missense_Mutation_p.G926E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G936E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	936	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAACGTTCTCCTTTCTCTAA	0.398000										TSP Lung(8;0.080)			14	36					0	0	0.000151284	0	0
TRPM1	4308	broad.mit.edu	37	15	31295094	31295094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:31295094C>T	ENST00000542188.1	-	27	4173	c.3860G>A	c.(3859-3861)cGg>cAg	p.R1287Q	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1248Q|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1270Q|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1248					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGAAGAAGCCCGGGACCGTGC	0.473000													20	53					0	0	0.000229342	0	0
CNBD1	168975	broad.mit.edu	37	8	88297023	88297023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:88297023G>A	ENST00000518476.1	+	7	940	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	297										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCCAGCAAAGGGATATGCAAA	0.358000													9	9					0	0	0.000442599	0	0
SORCS1	114815	broad.mit.edu	37	10	108439087	108439087	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:108439087T>C	ENST00000263054.6	-	12	1674	c.1667A>G	c.(1666-1668)aAt>aGt	p.N556S	SORCS1_ENST00000344440.6_Missense_Mutation_p.N556S|SORCS1_ENST00000369698.1_Missense_Mutation_p.N91S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	556						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAACCTATATTACCTAGAAA	0.428000													17	40					0	0	0.00121646	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963709	39963709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:39963709C>T	ENST00000599117.1	+	24	2580	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	SUPT5H_ENST00000432763.2_Missense_Mutation_p.S738F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S734F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S738F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S734F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	738					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTGCACTCCACCTGCCAG	0.667000													14	29					0	0	0.000308642	0	0
LPAR1	1902	broad.mit.edu	37	9	113637908	113637908	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:113637908G>A	ENST00000374431.3	-	5	1271	c.888C>T	c.(886-888)ttC>ttT	p.F296F	LPAR1_ENST00000358883.4_Silent_p.F296F|LPAR1_ENST00000538760.1_Silent_p.F297F|LPAR1_ENST00000541779.1_Silent_p.F297F|LPAR1_ENST00000374430.2_Silent_p.F296F	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	296					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAAGGAGAAGGAAGAATTTCT	0.498000													32	48					0	0	0.00178596	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880736	15880736	+	RNA	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:15880736G>A	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							CAAACATGAAGGTGTCAGCCT	0.507000													10	24					0	0	0.000442599	0	0
PCSK5	5125	broad.mit.edu	37	9	78601118	78601118	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:78601118C>G	ENST00000545128.1	+	3	906	c.368C>G	c.(367-369)tCt>tGt	p.S123C	PCSK5_ENST00000376752.4_Missense_Mutation_p.S123C|PCSK5_ENST00000376767.3_Missense_Mutation_p.S123C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	123	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGCCCAGTCTACCTATTTC	0.468000													40	54					0	0	0.000781405	0	0
NR2C1	7181	broad.mit.edu	37	12	95422272	95422272	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:95422272T>G	ENST00000333003.5	-	12	1752	c.1422A>C	c.(1420-1422)ttA>ttC	p.L474F	NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	474					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GCTCCATCAATAATTTTCTTC	0.313000													17	36					0	0	0.000422831	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142198029	142198029	+	RNA	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:142198029G>A	ENST00000471935.1	-	0	40																											GGGAAGGATGGGAGCTTTGCC	0.577000													11	29					0	0	0.00136819	0	0
SPEG	10290	broad.mit.edu	37	2	220355284	220355284	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:220355284G>A	ENST00000312358.7	+	37	9207	c.9075G>A	c.(9073-9075)ctG>ctA	p.L3025L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3025	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCATGTCCCTGCACGAGGCCT	0.627000													5	50					0	0	0.000602214	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229694	140229694	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140229694C>T	ENST00000378122.3	+	1	2338	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.R538R|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.672000													39	90					0	0	0.000437636	0	0
GPLD1	2822	broad.mit.edu	37	6	24454254	24454254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:24454254C>T	ENST00000230036.1	-	14	1434	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	442						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGGAAGCCTTCAAGGATCCTG	0.527000													34	84					0	0	0.00111076	0	0
WWOX	51741	broad.mit.edu	37	16	78458916	78458916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:78458916C>T	ENST00000566780.1	+	7	1121	c.755C>T	c.(754-756)cCt>cTt	p.P252L	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P252L	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	252	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGCTCAGCTCCTGCCCGTGTC	0.502000													42	66					0	0	0.000781405	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856078	130856078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:130856078C>T	ENST00000245255.3	+	21	2793	c.2521C>T	c.(2521-2523)Ctt>Ttt	p.L841F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	841	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTGGCTTTTCTTGTTGGCCA	0.458000													34	57					0	0	0.00128727	0	0
LAMB3	3914	broad.mit.edu	37	1	209799004	209799004	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:209799004G>A	ENST00000391911.1	-	13	2354	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	LAMB3_ENST00000367030.3_Silent_p.I655I|LAMB3_ENST00000356082.4_Silent_p.I655I	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	655	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAGGGAGAGGATGGCACTGG	0.542000													29	90					0	0	0.000409698	0	0
MYO6	4646	broad.mit.edu	37	6	76558070	76558070	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:76558070C>T	ENST00000369981.3	+	11	1179	c.900C>T	c.(898-900)taC>taT	p.Y300Y	MYO6_ENST00000369975.1_Silent_p.Y300Y|MYO6_ENST00000369985.4_Silent_p.Y300Y|MYO6_ENST00000369977.3_Silent_p.Y300Y			Q9UM54	MYO6_HUMAN	myosin VI	300	Myosin head-like.|Responsible for slow ATPase activity (By similarity).				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTGTAGTACCTTAAGGCAG	0.338000													27	40					0	0	0.001512	0	0
ZNF217	7764	broad.mit.edu	37	20	52198037	52198037	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:52198037G>A	ENST00000371471.2	-	2	1754	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	ZNF217_ENST00000302342.3_Silent_p.D443D			O75362	ZN217_HUMAN	zinc finger protein 217	443					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCAGATCCGTCTTCAGAAC	0.622000													21	37					0	0	0.00047179	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490773	141490773	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:141490773C>T	ENST00000247883.4	+	1	757	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	204					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGATGAAGGTCCATTCAGCTG	0.473000													27	48					0	0	0.00106085	0	0
SCLT1	132320	broad.mit.edu	37	4	129965184	129965184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:129965184C>T	ENST00000281142.5	-	3	628	c.125G>A	c.(124-126)gGa>gAa	p.G42E	SCLT1_ENST00000503215.1_Missense_Mutation_p.G19E|SCLT1_ENST00000503401.1_Missense_Mutation_p.G19E|SCLT1_ENST00000439369.2_Missense_Mutation_p.G42E|SCLT1_ENST00000434680.1_Missense_Mutation_p.G42E|SCLT1_ENST00000511426.1_Missense_Mutation_p.G42E|SCLT1_ENST00000506368.1_Missense_Mutation_p.G42E	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	42						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTGTCGTCTCCTTCTCCTTG	0.289000													19	28					0	0	0.000586117	0	0
C2orf16	84226	broad.mit.edu	37	2	27800346	27800346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:27800346G>A	ENST00000408964.2	+	1	958	c.907G>A	c.(907-909)Gga>Aga	p.G303R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	303										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAAGCCACTGGATTTGCAGA	0.453000													29	48					0	0	0.000409698	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618204	8618204	+	Silent	SNP	G	G	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:8618204G>C	ENST00000382073.3	+	4	534	c.348G>C	c.(346-348)gtG>gtC	p.V116V		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	116	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ATTTGGTTGTGTTCAACACAG	0.363000													19	43					0	0	0.00047179	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883539	12883539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:12883539C>T	ENST00000379672.5	+	19	2228	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T637I|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T643I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	643					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGTCCTCACACCCTCCGGAAA	0.627000													7	6					0	0	0.000157383	0	0
PRB4	5545	broad.mit.edu	37	12	11461664	11461664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:11461664C>T	ENST00000279575.1	-	3	286	c.253G>A	c.(253-255)Gga>Aga	p.G85R	PRB4_ENST00000535904.1_Missense_Mutation_p.G85R|PRB4_ENST00000445719.2_Missense_Mutation_p.G85R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	85	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTGCCTCCTTGTGGGGGT	0.612000										HNSCC(22;0.051)			55	294					0	0	0.000781405	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr21:38390367G>A	ENST00000329553.2	+	4	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGGTCGGCAGGAAAATGGCCC	0.632000													15	8					0	0	0.000422831	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408639	80408639	+	Silent	SNP	C	C	A	rs142772897	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:80408639C>A	ENST00000265080.4	+	14	2116	c.2049C>A	c.(2047-2049)tcC>tcA	p.S683S		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	683	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGAAACTCTCCGACATATACA	0.493000													5	84					1.23904e-05	9.37806e-05	0.000602214	1	0
CSMD2	114784	broad.mit.edu	37	1	33998708	33998708	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:33998708G>A	ENST00000373381.4	-	64	10289	c.10113C>T	c.(10111-10113)tcC>tcT	p.S3371S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3227						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCGGTGCTCGGAGCCACCCT	0.662000													14	17					0	0	0.000219431	0	0
ECM2	1842	broad.mit.edu	37	9	95256409	95256409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:95256409C>T	ENST00000444490.2	-	10	1954	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	CENPP_ENST00000375587.3_Intron	NM_001197296.1	NP_001184225.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	0					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTCACTGTCTCTAGAACAGCA	0.423000													19	37					0	0	0.00152264	0	0
OR10H4	126541	broad.mit.edu	37	19	16060184	16060184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:16060184C>T	ENST00000322107.1	+	1	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGGCTATGATCGCTATGTGGC	0.537000													63	121					0	0	0.000781405	0	0
MYH11	4629	broad.mit.edu	37	16	15813103	15813103	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:15813103C>T	ENST00000338282.6	-	36	5251	c.5145G>A	c.(5143-5145)gaG>gaA	p.E1715E	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Silent_p.E1722E|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000300036.5_Silent_p.E1715E|MYH11_ENST00000452625.2_Silent_p.E1722E|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Silent_p.E1715E	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1715					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGCCAGCTCCTCTGCCAGTT	0.612000			T	CBFB	AML								22	27					0	0	0.000878237	0	0
FSIP1	161835	broad.mit.edu	37	15	39910373	39910373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:39910373G>A	ENST00000350221.3	-	11	1471	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	421										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTAATGATGGATTTTTGTTT	0.363000													17	36					0	0	0.000422831	0	0
OR13C4	138804	broad.mit.edu	37	9	107289113	107289113	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:107289113G>A	ENST00000277216.3	-	1	377	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GAGGGTTACAGATGGCCACAT	0.453000													31	48					0	0	0.001512	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571920	139571920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:139571920G>A	ENST00000371696.2	-	2	336	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	AGPAT2_ENST00000538402.1_Missense_Mutation_p.P91S|AGPAT2_ENST00000371694.3_Missense_Mutation_p.P91S	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	91					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		ATGACACAGGGACGGGCCTCC	0.652000													125	221					0	0	0.000781405	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659737	121659737	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:121659737C>T	ENST00000489711.1	+	22	2461	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	SLC15A2_ENST00000295605.2_Silent_p.I660I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	691					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTCCATCATGGGCTACT	0.463000													32	54					0	0	0.000953801	0	0
GLDN	342035	broad.mit.edu	37	15	51687050	51687050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:51687050G>A	ENST00000335449.6	+	5	616	c.560G>A	c.(559-561)gGa>gAa	p.G187E	GLDN_ENST00000396399.2_Missense_Mutation_p.G63E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	187	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.G187E(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGAGCTGCAGGAAATCCAGGG	0.488000													9	19					0	0	0.000274275	0	0
SETD2	29072	broad.mit.edu	37	3	47098526	47098526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:47098526G>A	ENST00000409792.3	-	15	6790	c.6748C>T	c.(6748-6750)Caa>Taa	p.Q2250*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2250	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGGAGTCTTGGTGTACTACA	0.547000			"""N, F, S, Mis"""		clear cell renal carcinoma								25	29					0	0	0.000586117	0	0
KIFC3	3801	broad.mit.edu	37	16	57794744	57794744	+	Missense_Mutation	SNP	G	G	A	rs147963864		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57794744G>A	ENST00000379655.4	-	16	2383	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	KIFC3_ENST00000540079.2_Missense_Mutation_p.A607V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A731V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A709V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A570V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A651V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A570V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A570V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A567V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	709					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCGCAGGGCAGCAATGACGTC	0.672000													10	21					0	0	0.000978159	0	0
SLC5A4	6527	broad.mit.edu	37	22	32626959	32626959	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:32626959G>A	ENST00000266086.4	-	10	1136	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	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	375					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			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						TCCTACCTTGGGGCATCAGTT	0.532000													10	72					0	0	0.000673444	0	0
SACS	26278	broad.mit.edu	37	13	23907292	23907292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:23907292G>A	ENST00000382298.3	-	10	11311	c.10723C>T	c.(10723-10725)Cat>Tat	p.H3575Y	SACS_ENST00000402364.1_Missense_Mutation_p.H2825Y|SACS_ENST00000382292.3_Missense_Mutation_p.H3575Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3575					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGTAACATGATTTTTGGGT	0.308000													14	24					0	0	0.000219431	0	0
BTBD9	114781	broad.mit.edu	37	6	38565687	38565687	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:38565687G>A	ENST00000481247.1	-	2	335	c.185_splice	c.e2+1	p.R62_splice	BTBD9_ENST00000403056.1_Splice_Site_p.R62_splice	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	62	BTB.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CACACTTACCGAAAATATTGG	0.363000													27	74					0	0	0.000878237	0	0
MIR381HG	378881	broad.mit.edu	37	14	101513689	101513689	+	RNA	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr14:101513689C>T	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA																							TTGGTGTGTTCGCTTTATTTA	0.443000													14	7					0	0	0.000566183	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													7	40					0	0	8.12818e-05	0	0
ZBP1	81030	broad.mit.edu	37	20	56179658	56179658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:56179658C>T	ENST00000340462.4	-	7	1472	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	ZBP1_ENST00000371173.3_Missense_Mutation_p.E421K|ZBP1_ENST00000395822.3_Missense_Mutation_p.E346K			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	421						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CAGCTCCCCTCGTGTGAGGCT	0.592000													28	55					0	0	0.000339439	0	0
POGK	57645	broad.mit.edu	37	1	166819622	166819622	+	Silent	SNP	C	C	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:166819622C>G	ENST00000367875.1	+	5	2166	c.1806C>G	c.(1804-1806)acC>acG	p.T602T	POGK_ENST00000367876.4_Silent_p.T602T|POGK_ENST00000537173.1_Silent_p.T484T|POGK_ENST00000536514.1_Silent_p.T517T			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	602					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ATTGTGACACCGAAAGCATGG	0.493000													10	21					0	0	0.000151284	0	0
OR4C6	219432	broad.mit.edu	37	11	55433545	55433545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:55433545G>A	ENST00000314259.3	+	1	932	c.903G>A	c.(901-903)atG>atA	p.M301I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AACTCTGGATGAAATGGGAGG	0.413000													13	3					0	0	0.000151284	0	0
MAST4	375449	broad.mit.edu	37	5	66449399	66449399	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:66449399C>T	ENST00000404260.3	+	26	3956	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	MAST4_ENST00000403666.1_Silent_p.L1024L|MAST4_ENST00000405643.1_Silent_p.L1034L|MAST4_ENST00000261569.7_Silent_p.L1019L|MAST4_ENST00000403625.2_Silent_p.L1213L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1216	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTATAGAACTCCTACTGAAGG	0.493000													4	6					0	0	0.00024832	0	0
TTBK1	84630	broad.mit.edu	37	6	43227376	43227376	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:43227376G>A	ENST00000259750.4	+	12	1439	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	TTBK1_ENST00000304139.5_Silent_p.R401R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	452						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGCGCTACCGGAGGGTGAACA	0.682000													5	6					0	0	0.000602214	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461264	48461264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:48461264G>A	ENST00000358536.4	-	11	2700	c.2431C>T	c.(2431-2433)Cat>Tat	p.H811Y	PLXNB1_ENST00000296440.6_Missense_Mutation_p.H811Y|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	811	Pro-rich.				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			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)		ACTGTGGGATGAAGAGCCTCG	0.672000													7	5					0	0	8.12818e-05	0	0
C2orf16	84226	broad.mit.edu	37	2	27800347	27800347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:27800347G>A	ENST00000408964.2	+	1	959	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	303										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAGCCACTGGATTTGCAGAG	0.448000													29	49					0	0	0.000409698	0	0
PNPLA7	375775	broad.mit.edu	37	9	140357203	140357203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:140357203A>T	ENST00000406427.1	-	30	3762	c.3426T>A	c.(3424-3426)taT>taA	p.Y1142*	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Nonsense_Mutation_p.Y723*|PNPLA7_ENST00000277531.4_Nonsense_Mutation_p.Y1117*	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1117					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGCATCCCCATAGTTGGTGA	0.637000													17	16					0	0	0.000958276	0	0
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													4	73					0	0	0.000602214	0	0
ACTL6B	51412	broad.mit.edu	37	7	100243896	100243896	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:100243896G>A	ENST00000160382.5	-	13	1282	c.1176C>T	c.(1174-1176)atC>atT	p.I392I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	392					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGAACCCCCGATCCAGGGGC	0.602000													5	19					0	0	0.000602214	0	0
ADCY1	107	broad.mit.edu	37	7	45662343	45662343	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:45662343G>A	ENST00000297323.7	+	4	1042		c.e4+1		ADCY1_ENST00000432715.1_Splice_Site	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATTAGCCACGGTAAGTGCAGC	0.478000													7	18					0	0	0.000157383	0	0
THSD7B	80731	broad.mit.edu	37	2	137814542	137814542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:137814542C>T	ENST00000409968.1	+	3	870	c.692C>T	c.(691-693)tCc>tTc	p.S231F	THSD7B_ENST00000543459.1_Missense_Mutation_p.S90F|THSD7B_ENST00000413152.2_Missense_Mutation_p.S200F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S231F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCCCATTTCCTGTCCTCTT	0.458000													60	131					0	0	0.000781405	0	0
NUDT17	200035	broad.mit.edu	37	1	145587474	145587474	+	Silent	SNP	T	T	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:145587474T>C	ENST00000334513.5	-	6	617	c.606A>G	c.(604-606)caA>caG	p.Q202Q		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	202	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGGGTTTGGTTGGATCCGGG	0.582000													30	85					0	0	0.000814825	0	0
BANK1	55024	broad.mit.edu	37	4	102981499	102981499	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:102981499T>A	ENST00000504592.1	+	16	2474	c.2056T>A	c.(2056-2058)Ttt>Att	p.F686I	BANK1_ENST00000322953.4_Missense_Mutation_p.F701I|BANK1_ENST00000508653.1_Missense_Mutation_p.F568I|BANK1_ENST00000428908.1_Missense_Mutation_p.F568I|BANK1_ENST00000444316.2_Missense_Mutation_p.F671I			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	701					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCTGGAGAAATTTAAACACTG	0.463000													21	36					0	0	0.000229342	0	0
PSD4	23550	broad.mit.edu	37	2	113941069	113941069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:113941069C>T	ENST00000245796.6	+	2	1231	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	PSD4_ENST00000441564.2_Missense_Mutation_p.P346S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	346					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCAGCACCTCCTGGTCACGG	0.627000													10	21					0	0	0.000442599	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829983	26829983	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:26829983C>T	ENST00000215906.5	+	2	840	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	134					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						AGGAGTACGCCAAGCGCTACT	0.637000													10	23					0	0	0.000673444	0	0
SCN11A	11280	broad.mit.edu	37	3	38889195	38889195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:38889195G>A	ENST00000450244.1	-	26	4564	c.4366C>T	c.(4366-4368)Cct>Tct	p.P1456S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1418S|SCN11A_ENST00000302328.3_Missense_Mutation_p.P1456S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1456					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAGGGAAAGGAATGTGCTCC	0.502000													8	14					0	0	0.000274275	0	0
CES1	1066	broad.mit.edu	37	16	55862760	55862760	+	Missense_Mutation	SNP	G	G	A	rs75463934		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:55862760G>A	ENST00000422046.2	-	2	457	c.176C>T	c.(175-177)cCt>cTt	p.P59L	CES1_ENST00000361503.4_Missense_Mutation_p.P59L|CES1_ENST00000360526.3_Missense_Mutation_p.P60L			P23141	EST1_HUMAN	carboxylesterase 1	59					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGGTCCAAGAGGCGGCTTGGC	0.552000													18	35					0	0	0.00074312	0	0
LST1	7940	broad.mit.edu	37	6	31556496	31556496	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:31556496C>T	ENST00000376111.4	+	5	574	c.171C>T	c.(169-171)gtC>gtT	p.V57V	LST1_ENST00000376102.3_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000438075.2_3'UTR|LST1_ENST00000376110.3_3'UTR|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000339530.4_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000376089.2_3'UTR			O00453	LST1_HUMAN	leukocyte specific transcript 1	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						TGGACAGGGTCCCCCTGTGGT	0.547000													7	25					0	0	0.000157383	0	0
BOC	91653	broad.mit.edu	37	3	113004374	113004374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:113004374C>T	ENST00000495514.1	+	19	3823	c.3119C>T	c.(3118-3120)cCt>cTt	p.P1040L	BOC_ENST00000355385.3_Missense_Mutation_p.P1040L|BOC_ENST00000273395.4_Missense_Mutation_p.P1041L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1040					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCGACAGTCCTGTCCTGGAA	0.617000													8	18					0	0	0.000157383	0	0
HMMR	3161	broad.mit.edu	37	5	162917552	162917552	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:162917552A>G	ENST00000416990.2	+	17	2271	c.1774A>G	c.(1774-1776)Aaa>Gaa	p.K592E	HMMR_ENST00000393915.4_Missense_Mutation_p.K707E|HMMR_ENST00000353866.3_Missense_Mutation_p.K691E|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.K620E|HMMR_ENST00000358715.3_Missense_Mutation_p.K706E			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	706						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GACCCCATTAAAAGAAGGTAA	0.318000													38	50					0	0	0.00128727	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714455	138714455	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:138714455G>A	ENST00000389532.4	-	11	2116	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.A406A|CAMSAP1_ENST00000409386.3_Silent_p.A695A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	684						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCCGCCAAGGGCCAGAGGCC	0.587000													6	20					0	0	8.12818e-05	0	0
EPHX1	2052	broad.mit.edu	37	1	226033024	226033024	+	Silent	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:226033024C>T	ENST00000366837.4	+	9	1540	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.F448F	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	448					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCGCAAGTTCCTGTCGGTGC	0.607000													40	18					0	0	0.000437636	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:120022371G>A	ENST00000379551.2	+	3	1170	c.813G>A	c.(811-813)acG>acA	p.T271T	PRR16_ENST00000407149.2_Silent_p.T294T|PRR16_ENST00000505123.1_Silent_p.T224T|PRR16_ENST00000446965.1_Silent_p.T224T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	294	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000													22	31					0	0	0.000878237	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:36288274G>A	ENST00000539424.1	+	2	1785	c.120G>A	c.(118-120)atG>atA	p.M40I	TBC1D3F_ENST00000327454.6_Missense_Mutation_p.M120I|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.M120I|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.M120I			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	120						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						CTGAGGAAATGAAGTTGAAAA	0.557000													47	511					0	0	0.000781405	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321458	42321458	+	Silent	SNP	T	T	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:42321458T>G	ENST00000291232.3	-	3	512	c.468A>C	c.(466-468)ccA>ccC	p.P156P		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	156						integral to membrane	receptor activity	p.P156P(1)		lung(2)|urinary_tract(1)	3						TGTGGCCAGGTGGGGTGGTTC	0.637000													8	80					0	0	0.000958276	0	0
CDH26	60437	broad.mit.edu	37	20	58545215	58545215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:58545215G>A	ENST00000348616.4	+	3	505	c.205G>A	c.(205-207)Gga>Aga	p.G69R	CDH26_ENST00000244047.5_Missense_Mutation_p.G69R	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	69	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGAAGACCCGGGACCCTTTCC	0.512000													26	45					0	0	0.000586117	0	0
PTCD2	79810	broad.mit.edu	37	5	71622508	71622508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:71622508C>T	ENST00000380639.5	+	3	306	c.290C>T	c.(289-291)aCc>aTc	p.T97I	PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000543322.1_Missense_Mutation_p.T97I|PTCD2_ENST00000503868.1_Intron	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	97										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGTTGATAACCTTACTACAT	0.423000													32	60					0	0	0.000491102	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953953	161953953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:161953953C>T	ENST00000294794.3	-	8	2188	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N	OLFML2B_ENST00000367940.2_Missense_Mutation_p.D590N|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D72N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	589	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTTCAGGTCGTACTTGATG	0.602000													28	32					0	0	0.00106085	0	0
COL19A1	1310	broad.mit.edu	37	6	70856749	70856749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:70856749G>A	ENST00000322773.4	+	27	1963	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	COL19A1_ENST00000393344.1_Missense_Mutation_p.G243S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	621	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGGACATAGGCCCACAAGG	0.433000													14	31					0	0	0.000422831	0	0
ALDOB	229	broad.mit.edu	37	9	104187160	104187160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:104187160C>A	ENST00000374855.4	-	8	1088	c.964G>T	c.(964-966)Gag>Tag	p.E322*		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	322					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGGTTGCCTCCTTGTTTGCA	0.537000													28	39					2.46105e-21	1.89754e-20	0.000339439	1	0
SLIT2	9353	broad.mit.edu	37	4	20544138	20544138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:20544138C>T	ENST00000504154.1	+	21	2417	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	SLIT2_ENST00000503837.1_Missense_Mutation_p.S718F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S714F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S726F|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	722	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATAGTTGCTCCCCACTTTCT	0.418000													62	105					0	0	0.000781405	0	0
ELAVL2	1993	broad.mit.edu	37	9	23705064	23705064	+	Silent	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:23705064G>A	ENST00000397312.2	-	4	613	c.339C>T	c.(337-339)tcC>tcT	p.S113S	ELAVL2_ENST00000380117.1_Silent_p.S113S|ELAVL2_ENST00000544538.1_Silent_p.S113S|ELAVL2_ENST00000380110.4_Silent_p.S142S|ELAVL2_ENST00000223951.6_Silent_p.S113S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	113	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCGAGCATAGGAAACCTGGA	0.408000													26	15					0	0	0.00047179	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:9417698G>A	ENST00000378501.2	+	26	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000													9	9					0	0	0.000274275	0	0
GRID2	2895	broad.mit.edu	37	4	94436462	94436462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:94436462C>T	ENST00000282020.4	+	13	2351	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	GRID2_ENST00000510992.1_Missense_Mutation_p.P603L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTGAATCCTTTTGAGAGG	0.483000													11	27					0	0	0.000978159	0	0
TXNIP	10628	broad.mit.edu	37	1	145441200	145441202	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:145441200_145441202delCAA	ENST00000369317.4	+	8	1492_1494	c.1158_1160delCAA	c.(1156-1161)ctc>ct	p.LN386del	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATGTG	0.394													22	28	---	---	---	---					
SLC29A1	2030	broad.mit.edu	37	6	44198607	44198608	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:44198607_44198608insT	ENST00000393841.1	+	9	1238_1239	c.747_748insT	c.(745-750)aatggafs	p.G250fs	SLC29A1_ENST00000371713.1_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000427851.2_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000371724.1_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000371708.1_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000313248.7_Frame_Shift_Ins_p.G329fs|SLC29A1_ENST00000371755.3_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000371740.5_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000371731.1_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000393844.1_Frame_Shift_Ins_p.G250fs|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	250					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGGAGACCAAGTTGGACCTCAT	0.540													50	173	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													7	300	---	---	---	---