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
ALK	238	broad.mit.edu	37	2	29451860	29451860	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:29451860C>T	ENST00000389048.3	-	16	3611	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	902	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAATGTCCTCCGGTGGCACC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	18					0	0	0.009096	0	0
A2ML1	144568	broad.mit.edu	37	12	8995903	8995903	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:8995903T>A	ENST00000299698.7	+	12	1602	c.1422T>A	c.(1420-1422)taT>taA	p.Y474*		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	318						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGTGGATTATTACATCGACC	0.572000													28	38					0	0	0.009535	0	0
COL6A2	1292	broad.mit.edu	37	21	47546096	47546096	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:47546096C>T	ENST00000300527.4	+	26	2471	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	COL6A2_ENST00000357838.4_Silent_p.F789F|COL6A2_ENST00000409416.1_Silent_p.F789F|COL6A2_ENST00000310645.5_Silent_p.F789F|COL6A2_ENST00000397763.1_Silent_p.F789F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	789	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGACGCTGTTCTCCGACCTGG	0.627000													97	181					0	0	0.003610	0	0
METAP1D	254042	broad.mit.edu	37	2	172926242	172926242	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:172926242C>T	ENST00000315796.4	+	2	444	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	19					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATAGAATTTTCTCTTCACCAC	0.343000													52	74					0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51174325	51174325	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51174325C>T	ENST00000440970.1	-	2	1948	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R603K|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	603					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTAGGTTTCTTGTGGCTGA	0.612000													18	24					0	0	0.008871	0	0
FBXO40	51725	broad.mit.edu	37	3	121340369	121340369	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121340369C>T	ENST00000338040.4	+	3	507	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	31					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AACCCAACACCTCCTGCCTGG	0.597000													32	55					0	0	0.009535	0	0
TRIO	7204	broad.mit.edu	37	5	14462946	14462946	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:14462946G>A	ENST00000344204.4	+	36	5603	c.5579G>A	c.(5578-5580)gGc>gAc	p.G1860D	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.G1860D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1860					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGAGGAAGGCGAGGAGGGG	0.622000													17	55					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179558399	179558399	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179558399C>T	ENST00000589042.1	-	119	31755	c.31531G>A	c.(31531-31533)Gaa>Aaa	p.E10511K	TTN_ENST00000342992.6_Missense_Mutation_p.E9267K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10194K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10194	Glu-rich.|Pro-rich.						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)			GTAACAATTTCCTTTTGTACC	0.299000													9	17					0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152191721C>T	ENST00000368801.2	-	3	2459	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	795					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCAGACCCGTGTTGGCC	0.602000													17	78					0	0	0.004990	0	0
DMBT1	1755	broad.mit.edu	37	10	124402818	124402818	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:124402818G>A	ENST00000338354.3	+	53	7252	c.7146G>A	c.(7144-7146)tcG>tcA	p.S2382S	DMBT1_ENST00000368955.3_Silent_p.S2372S|DMBT1_ENST00000344338.3_Silent_p.S2372S|DMBT1_ENST00000368956.2_Silent_p.S1754S|DMBT1_ENST00000330163.4_Silent_p.S1754S|DMBT1_ENST00000368909.3_Silent_p.S2382S|DMBT1_ENST00000359586.6_Silent_p.S1102S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2382					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTTGAGGTCGAAGAGGGATG	0.612000													43	54					0	0	0.009718	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045354	142045354	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:142045354G>A	ENST00000390392.3	+	0	103																											TCTCAGACCCGAGGCTAGCAT	0.577000													58	91					0	0	0.003610	0	0
GRM5	2915	broad.mit.edu	37	11	88301112	88301112	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:88301112G>A	ENST00000418177.2	-	8	2106	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM5_ENST00000455756.2_Missense_Mutation_p.P580L|GRM5_ENST00000305447.4_Missense_Mutation_p.P580L|GRM5_ENST00000305432.5_Missense_Mutation_p.P580L|GRM5_ENST00000393297.1_Missense_Mutation_p.P580L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	580					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCTGCAATGGGTTCAGGGTC	0.488000													23	6					0	0	0.012319	0	0
DMPK	1760	broad.mit.edu	37	19	46282618	46282618	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:46282618C>T	ENST00000600757.1	-	3	1054		c.e3-1		DMPK_ENST00000458663.2_Splice_Site|DMPK_ENST00000291270.4_Splice_Site|DMPK_ENST00000447742.2_Splice_Site|DMPK_ENST00000354227.5_Splice_Site|DMPK_ENST00000343373.4_Splice_Site			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGCACGACACCTGCAGGGCAC	0.662000													30	67					0	0	0.007291	0	0
RPH3A	22895	broad.mit.edu	37	12	113266162	113266162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:113266162G>A	ENST00000389385.4	+	3	536	c.39G>A	c.(37-39)tgG>tgA	p.W13*	RPH3A_ENST00000420983.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.W13*|RPH3A_ENST00000447659.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.W13*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.W13*	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	13					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTAACCGTTGGATGTACCCCA	0.473000													43	66					0	0	0.003610	0	0
GRIA3	2892	broad.mit.edu	37	X	122528859	122528859	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:122528859G>A	ENST00000264357.5	+	6	1083	c.791G>A	c.(790-792)gGa>gAa	p.G264E	GRIA3_ENST00000371256.5_Missense_Mutation_p.G264E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G248E|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G264E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G264E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATGCATGGGGGAGCCAACATT	0.428000													82	10					0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57326176	57326176	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57326176G>A	ENST00000326441.9	-	10	3997	c.3634C>T	c.(3634-3636)Cgt>Tgt	p.R1212C	PEG3_ENST00000598410.1_Missense_Mutation_p.R1088C|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1086C|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1212C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1212					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGCAGCACGATTCCTCCGT	0.488000													17	37					0	0	0.006122	0	0
GPR142	350383	broad.mit.edu	37	17	72363867	72363867	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72363867G>A	ENST00000335666.4	+	1	271	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	75						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCCATCCAAGGACTCCAGCAG	0.567000													24	21					0	0	0.003954	0	0
ZNF530	348327	broad.mit.edu	37	19	58118305	58118305	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58118305C>T	ENST00000332854.6	+	3	1632	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGAAAAATCATTTAGTTGC	0.418000													17	31					0	0	0.008871	0	0
SPINT1	6692	broad.mit.edu	37	15	41145988	41145988	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41145988C>T	ENST00000344051.4	+	5	1056	c.822C>T	c.(820-822)atC>atT	p.I274I	SPINT1_ENST00000431806.1_Silent_p.I274I|SPINT1_ENST00000562057.1_Silent_p.I274I			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	274	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGGAGCAGATCTGCAAGAGTT	0.562000													53	81					0	0	0.003610	0	0
PCSK2	5126	broad.mit.edu	37	20	17462516	17462516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:17462516G>A	ENST00000262545.2	+	12	2033	c.1718G>A	c.(1717-1719)gGa>gAa	p.G573E	PCSK2_ENST00000536609.1_Missense_Mutation_p.G538E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.G554E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	573					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGAGCTGGGATTTGTCGGC	0.627000													11	21					0	0	0.008291	0	0
TCL6	27004	broad.mit.edu	37	14	96129986	96129986	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:96129986C>T	ENST00000467865.1	+	0	394				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AGGCCAGTTTCATGTCTTGTG	0.443000			T	TRA@	T-ALL								19	31					0	0	0.006122	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119242	18119242	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:18119242C>T	ENST00000222250.4	+	1	266	c.123C>T	c.(121-123)gcC>gcT	p.A41A	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	41										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGTCAAGCGCCGCGCGTGTGG	0.751000													4	9					0	0	0.009096	0	0
BAHD1	22893	broad.mit.edu	37	15	40758311	40758311	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40758311C>T	ENST00000561234.1	+	7	2581	c.2322C>T	c.(2320-2322)atC>atT	p.I774I	BAHD1_ENST00000416165.1_Silent_p.I775I|BAHD1_ENST00000560846.1_Silent_p.I772I|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	775	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACGGGCGCATCCTTAAGAACC	0.617000													38	77					0	0	0.006230	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675049	40675049	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40675049G>A	ENST00000416151.2	+	1	128	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	KNSTRN_ENST00000249776.8_Missense_Mutation_p.E5K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.E5K	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		GGCGGCTCCCGAAGCCCCGCC	0.582000													13	13					0	0	0.001855	0	0
MYBPC1	4604	broad.mit.edu	37	12	102023306	102023306	+	Translation_Start_Site	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:102023306A>T	ENST00000551300.1	+	0	443				MYBPC1_ENST00000361466.2_Silent_p.G91G|MYBPC1_ENST00000361685.2_Silent_p.G91G|MYBPC1_ENST00000541119.1_Silent_p.G54G|MYBPC1_ENST00000550270.1_Silent_p.G66G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Silent_p.G79G|MYBPC1_ENST00000360610.2_Silent_p.G66G|MYBPC1_ENST00000553190.1_Silent_p.G66G|MYBPC1_ENST00000441232.1_Silent_p.G66G|MYBPC1_ENST00000545503.2_Silent_p.G66G|MYBPC1_ENST00000536007.1_Silent_p.G66G|MYBPC1_ENST00000392934.3_Silent_p.G53G|MYBPC1_ENST00000452455.2_Silent_p.G66G|MYBPC1_ENST00000547405.1_Silent_p.G40G|MYBPC1_ENST00000547509.1_Silent_p.G52G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACCTCAAGGAGGAACAGTGA	0.488000													15	29					0	0	0.002450	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323702	145323702	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:145323702C>T	ENST00000342960.5	+	27	3574	c.3539C>T	c.(3538-3540)cCc>cTc	p.P1180L	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1180										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCACCATGCCCCAGGTAACTG	0.453000													69	1102					0	0	0.003610	0	0
PDE4D	5144	broad.mit.edu	37	5	58511757	58511757	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:58511757G>A	ENST00000340635.6	-	2	668	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PDE4D_ENST00000405755.2_Missense_Mutation_p.P43S|PDE4D_ENST00000503258.1_Missense_Mutation_p.P35S|PDE4D_ENST00000502575.1_Missense_Mutation_p.P101S|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Missense_Mutation_p.P29S|PDE4D_ENST00000507116.1_Missense_Mutation_p.P101S|PDE4D_ENST00000546160.1_Missense_Mutation_p.P104S|PDE4D_ENST00000502484.2_Missense_Mutation_p.P104S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	165					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGATCCAAGGGACTCCGTCCC	0.473000													5	20					0	0	0.000602	0	0
WFDC1	58189	broad.mit.edu	37	16	84353060	84353060	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:84353060G>A	ENST00000219454.5	+	4	771	c.445G>A	c.(445-447)Gat>Aat	p.D149N	WFDC1_ENST00000568638.1_Missense_Mutation_p.D149N			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	149					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CACCACGGAGGATGGGGCCGA	0.637000													16	26					0	0	0.004990	0	0
CCL7	6354	broad.mit.edu	37	17	32598743	32598743	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:32598743C>T	ENST00000394630.3	+	2	171	c.104C>T	c.(103-105)tCt>tTt	p.S35F	CCL7_ENST00000200307.4_Silent_p.I84I|CCL7_ENST00000378569.2_Silent_p.I74I|CCL7_ENST00000394627.1_3'UTR			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAAGGAGATCTGTGCTGACC	0.483000													23	66					0	0	0.003954	0	0
CDH23	64072	broad.mit.edu	37	10	73545396	73545396	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73545396C>T	ENST00000224721.6	+	43	5741	c.5736C>T	c.(5734-5736)atC>atT	p.I1912I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1907	Cadherin 18.		R -> W (in USH1D).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGGGATCGTCACTGTGA	0.582000													3	8					0	0	0.004672	0	0
C17orf49	124944	broad.mit.edu	37	17	6920597	6920597	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6920597G>A	ENST00000546495.1	+	6	899	c.536G>A	c.(535-537)gGc>gAc	p.G179D	MIR497HG_ENST00000572453.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.G153D|RNASEK-C17orf49_ENST00000607129.1_3'UTR|C17orf49_ENST00000547709.1_3'UTR|RNASEK-C17orf49_ENST00000606880.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000546760.1_Missense_Mutation_p.G144D|C17orf49_ENST00000439424.2_3'UTR|MIR497HG_ENST00000443997.1_RNA			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						CTGGATTCTGGCCTTCTCATG	0.582000													51	78					0	0	0.003610	0	0
KLHL22	84861	broad.mit.edu	37	22	20825682	20825682	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:20825682G>A	ENST00000328879.4	-	3	504	c.348C>T	c.(346-348)agC>agT	p.S116S	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	116	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CATTGCTCAGGCTGAGCTCCA	0.537000													33	43					0	0	0.010818	0	0
SSPO	23145	broad.mit.edu	37	7	149513089	149513089	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149513089G>A	ENST00000378016.2	+	0	10992							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGGGCGGGGAGCAGCTGC	0.687000													7	2					0	0	0.001984	0	0
NDST4	64579	broad.mit.edu	37	4	115767138	115767138	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:115767138G>A	ENST00000264363.2	-	10	2634	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	652	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGGTGTAGGGAAAAAGTCCA	0.358000													12	27					0	0	0.001855	0	0
DHX15	1665	broad.mit.edu	37	4	24543617	24543617	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:24543617G>A	ENST00000336812.4	-	8	1520	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	455	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CACCAAAAGGGACTCAACTCT	0.418000													17	26					0	0	0.006122	0	0
HNF1A	6927	broad.mit.edu	37	12	121437150	121437150	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121437150C>T	ENST00000257555.6	+	8	1807	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	HNF1A_ENST00000541395.1_Silent_p.T527T|HNF1A_ENST00000544413.1_Silent_p.T527T			P20823	HNF1A_HUMAN	HNF1 homeobox A	527					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCGACACCACCAACCTGA	0.677000									Hepatic Adenoma, Familial Clustering of				58	221					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9058524	9058524	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9058524G>A	ENST00000397910.4	-	3	29125	c.28922C>T	c.(28921-28923)tCc>tTc	p.S9641F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9643	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						AACTTCATCGGAGATGTCTAG	0.512000													24	31					0	0	0.003954	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059122	11059122	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:11059122G>A	ENST00000287766.4	+	3	646	c.225G>A	c.(223-225)ggG>ggA	p.G75G	SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCTCTGCGGGAAAAATGGTG	0.607000													14	33					0	0	0.004007	0	0
PSAP	5660	broad.mit.edu	37	10	73588778	73588778	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73588778G>A	ENST00000394936.3	-	5	579	c.432C>T	c.(430-432)caC>caT	p.H144H	PSAP_ENST00000394934.1_Silent_p.H144H			P07602	SAP_HUMAN	prosaposin	144					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTCTGCTAGGTGCTTCTGGA	0.572000													24	57					0	0	0.007291	0	0
NEDD1	121441	broad.mit.edu	37	12	97311490	97311490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:97311490C>T	ENST00000266742.4	+	5	662	c.323C>T	c.(322-324)tCa>tTa	p.S108L	NEDD1_ENST00000457368.2_Missense_Mutation_p.S19L|NEDD1_ENST00000411739.2_Missense_Mutation_p.S19L|NEDD1_ENST00000557644.1_Missense_Mutation_p.S115L|NEDD1_ENST00000429527.2_Missense_Mutation_p.S108L|NEDD1_ENST00000555114.1_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	108					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GATTTAAAATCAAAAAGAGTT	0.279000													52	113					0	0	0.003610	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327576	21327576	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21327576G>A	ENST00000256958.2	+	4	388	c.292G>A	c.(292-294)Gga>Aga	p.G98R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	98					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAAGTTAATTGGAATCGGTTG	0.343000													21	24					0	0	0.012319	0	0
PDE1C	5137	broad.mit.edu	37	7	31867923	31867923	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:31867923A>T	ENST00000396184.3	-	13	1472	c.1268T>A	c.(1267-1269)gTt>gAt	p.V423D	PDE1C_ENST00000321453.7_Missense_Mutation_p.V423D|PDE1C_ENST00000396182.2_Missense_Mutation_p.V423D|PDE1C_ENST00000396193.1_Missense_Mutation_p.V483D|PDE1C_ENST00000396191.1_Missense_Mutation_p.V423D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	423	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGACTGAGCAACCATAGTGGA	0.458000													21	54					0	0	0.003330	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458139	51458139	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:51458139T>C	ENST00000228515.1	-	5	1319	c.1022A>G	c.(1021-1023)gAt>gGt	p.D341G		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	341					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCCGCTGGAATCTTCTTCTGC	0.587000													27	52					0	0	0.007291	0	0
XKR6	286046	broad.mit.edu	37	8	10756377	10756377	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:10756377G>A	ENST00000416569.2	-	3	1037	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	XKR6_ENST00000304437.2_Silent_p.S58S	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	337						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCTTGTGATAGGAGGCTAGCA	0.562000													69	24					0	0	0.003610	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526703	106526703	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:106526703G>A	ENST00000359195.3	+	10	3306	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	PIK3CG_ENST00000496166.1_Missense_Mutation_p.G999E|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G999E	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	999	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGAACTTCTGGAAAGAAGACA	0.478000													35	57					0	0	0.006999	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12887980	12887980	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12887980G>A	ENST00000379672.5	+	20	2372	c.2072G>A	c.(2071-2073)gGa>gAa	p.G691E	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G691E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G685E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	691					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						TCACCCTATGGACTGAGCTAC	0.667000													9	16					0	0	0.004482	0	0
PKD1	5310	broad.mit.edu	37	16	2168111	2168111	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2168111G>A	ENST00000262304.4	-	5	1090	c.882C>T	c.(880-882)atC>atT	p.I294I	PKD1_ENST00000423118.1_Silent_p.I294I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	294	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGGGCAGCGATGTGGAAGG	0.711000													11	10					0	0	0.010729	0	0
ASTL	431705	broad.mit.edu	37	2	96789943	96789943	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:96789943C>T	ENST00000342380.2	-	9	941	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	314					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGACAGTGCCTCCAAAAGCC	0.657000													12	20					0	0	0.001368	0	0
FAM227B	196951	broad.mit.edu	37	15	49882096	49882096	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:49882096C>T	ENST00000299338.6	-	4	517	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	FAM227B_ENST00000561064.1_Missense_Mutation_p.E72K|FAM227B_ENST00000558594.1_Missense_Mutation_p.E72K|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Missense_Mutation_p.E72K	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGAACATTTTCCCATAGGTGT	0.308000													25	34					0	0	0.003330	0	0
GPX6	257202	broad.mit.edu	37	6	28472125	28472125	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:28472125C>T	ENST00000361902.1	-	5	659	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	GPX6_ENST00000474923.1_Silent_p.Q170Q	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	204					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTGTGCTGACTGGAGCCTGG	0.522000													49	53					0	0	0.003610	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129668	150129668	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:150129668C>T	ENST00000369124.4	+	5	791	c.513C>T	c.(511-513)caC>caT	p.H171H	PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Intron	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	171	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGGGGACACCTAATGGCTG	0.522000													66	36					0	0	0.003610	0	0
ZNF709	163051	broad.mit.edu	37	19	12576517	12576517	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:12576517C>T	ENST00000397732.3	-	4	390	c.219G>A	c.(217-219)agG>agA	p.R73R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.R73R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCTTCTTTCCTTTCACAGA	0.318000													9	13					0	0	0.008291	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663158	167663158	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:167663158C>T	ENST00000357154.3	-	10	1130	c.993G>A	c.(991-993)aaG>aaA	p.K331K	SPOCK3_ENST00000502330.1_Silent_p.K331K|SPOCK3_ENST00000541354.1_Silent_p.K211K|SPOCK3_ENST00000421836.2_Silent_p.K280K|SPOCK3_ENST00000357545.4_Silent_p.K328K|SPOCK3_ENST00000541637.1_Silent_p.K233K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Silent_p.K235K|SPOCK3_ENST00000511531.1_Silent_p.K331K|SPOCK3_ENST00000511269.1_Silent_p.K328K|SPOCK3_ENST00000504953.1_Silent_p.K328K|SPOCK3_ENST00000512681.1_Silent_p.K233K|SPOCK3_ENST00000510741.1_Silent_p.K288K|SPOCK3_ENST00000506886.1_Silent_p.K331K|SPOCK3_ENST00000535728.1_Silent_p.K199K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	331	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.K328N(1)		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)		CTAGGAGCTTCTTTACCCCTT	0.378000													33	71					0	0	0.003755	0	0
TBR1	10716	broad.mit.edu	37	2	162273514	162273514	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:162273514G>A	ENST00000389554.3	+	1	910	c.593G>A	c.(592-594)gGg>gAg	p.G198E		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCAGCCGGGGCTGGTGCCC	0.612000													29	62					0	0	0.006320	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748789	43748789	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:43748789G>A	ENST00000263801.3	-	12	2254	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P673S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P673S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P673S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	668					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTCTCAGGGATTTCTTCC	0.458000								Other conserved DNA damage response genes					40	54					0	0	0.006999	0	0
BIK	638	broad.mit.edu	37	22	43524620	43524620	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:43524620C>T	ENST00000216115.2	+	4	442	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	127					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				ATCCCCGAACCCCGGGTCCTG	0.577000													33	49					0	0	0.004289	0	0
CREB5	9586	broad.mit.edu	37	7	28758481	28758481	+	Silent	SNP	C	C	T	rs150680376	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:28758481C>T	ENST00000357727.2	+	6	966	c.576C>T	c.(574-576)tcC>tcT	p.S192S	CREB5_ENST00000396298.2_Silent_p.S53S|CREB5_ENST00000409603.1_Silent_p.S159S|CREB5_ENST00000396300.2_Silent_p.S185S|CREB5_ENST00000396299.2_Silent_p.S159S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	192					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S192S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGGATCTTCCGCCGTCTTGA	0.517000													251	363					0	0	0.003610	0	0
TRIM36	55521	broad.mit.edu	37	5	114483050	114483050	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:114483050G>A	ENST00000513154.1	-	3	630	c.304C>T	c.(304-306)Cct>Tct	p.P102S	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.P114S			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	114						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCAGGGCAAGGGAAAACAGTT	0.413000													27	70					0	0	0.003271	0	0
SLC6A17	388662	broad.mit.edu	37	1	110719356	110719356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:110719356C>T	ENST00000331565.4	+	6	1344	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	287					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATGTTCACTCCCAAGGTAAG	0.562000													32	66					0	0	0.002836	0	0
SUGP2	10147	broad.mit.edu	37	19	19121000	19121000	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19121000G>A	ENST00000601879.1	-	5	2299	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	SUGP2_ENST00000452918.2_Missense_Mutation_p.R668C|SUGP2_ENST00000600377.1_Missense_Mutation_p.R682C|SUGP2_ENST00000337018.6_Missense_Mutation_p.R668C|SUGP2_ENST00000456085.2_Missense_Mutation_p.R437C			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	668					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTGAGGTTGCGGACAGCCCGG	0.652000													46	76					0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29509639	29509639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:29509639C>T	ENST00000358273.4	+	8	1227	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q282*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q282*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	282					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAATAATCCAGGATATATC	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	18					0	0	0.006214	0	0
COA6	388753	broad.mit.edu	37	1	234509472	234509472	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:234509472C>T	ENST00000366613.1	+	1	44	c.8C>T	c.(7-9)cCg>cTg	p.P3L	COA6_ENST00000366615.4_Intron|COA6_ENST00000366612.1_5'UTR	NM_001012985.2	NP_001013003.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		ACTATGGGCCCGGGAGGTCCC	0.647000													52	137					0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56321439	56321439	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56321439C>T	ENST00000443188.1	-	5	1247	c.537G>A	c.(535-537)atG>atA	p.M179I	NLRP11_ENST00000360133.3_Missense_Mutation_p.M179I|NLRP11_ENST00000589093.1_Missense_Mutation_p.M179I|NLRP11_ENST00000592953.1_Missense_Mutation_p.M80I|NLRP11_ENST00000589824.2_Missense_Mutation_p.M179I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	179	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGTACGAGATCATGTTCTGCC	0.493000													13	19					0	0	0.001855	0	0
DUS3L	56931	broad.mit.edu	37	19	5789332	5789332	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:5789332G>A	ENST00000309061.7	-	3	882	c.786C>T	c.(784-786)gcC>gcT	p.A262A	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	262					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGACCTGCTGGGCACCACAGT	0.746000													6	13					0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826141	43826141	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:43826141G>A	ENST00000389420.3	-	21	3061	c.3062C>T	c.(3061-3063)tCc>tTc	p.S1021F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1021F|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S175F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1021	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGGGACAGGAAAATTCATT	0.393000													18	31					0	0	0.004990	0	0
TG	7038	broad.mit.edu	37	8	133920503	133920503	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:133920503G>A	ENST00000220616.4	+	18	3960	c.3920G>A	c.(3919-3921)aGt>aAt	p.S1307N	TG_ENST00000377869.1_Missense_Mutation_p.S1307N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1307					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGATGTGCAGTGCTGACTAC	0.592000													37	22					0	0	0.006230	0	0
R3HDM1	23518	broad.mit.edu	37	2	136437804	136437804	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:136437804T>C	ENST00000264160.4	+	20	2634	c.2264T>C	c.(2263-2265)tTc>tCc	p.F755S	R3HDM1_ENST00000409478.1_Missense_Mutation_p.F627S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.F626S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.F756S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.F700S	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	755							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGTTATGTTCCCTAATCAG	0.378000													28	56					0	0	0.012213	0	0
XPO1	7514	broad.mit.edu	37	2	61709610	61709610	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:61709610A>G	ENST00000401558.2	-	23	3604	c.2877T>C	c.(2875-2877)agT>agC	p.S959S	RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Silent_p.S959S|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|XPO1_ENST00000406957.1_Silent_p.S959S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	959					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTAATGATGTACTTATTTTTC	0.328000			Mis		CLL								21	20					0	0	0.012319	0	0
BRINP1	1620	broad.mit.edu	37	9	121930073	121930073	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:121930073G>A	ENST00000265922.3	-	8	2036	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		525					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGAGAGTGAGGGACATGCGCT	0.572000													9	6					0	0	0.006214	0	0
SLC5A12	159963	broad.mit.edu	37	11	26705386	26705386	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:26705386G>A	ENST00000396005.3	-	11	1535	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	409					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGCTGAGGGAAGCCTGTGG	0.517000													5	5					0	0	0.000602	0	0
LAMA5	3911	broad.mit.edu	37	20	60902993	60902993	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:60902993G>A	ENST00000252999.3	-	36	4792	c.4726C>T	c.(4726-4728)Ccc>Tcc	p.P1576S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1576	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTCACAGGGGCGGCAGCGG	0.687000													21	33					0	0	0.003330	0	0
NCOA3	8202	broad.mit.edu	37	20	46280002	46280002	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:46280002C>T	ENST00000372004.3	+	20	4132	c.3916C>T	c.(3916-3918)Cca>Tca	p.P1306S	NCOA3_ENST00000371998.3_Missense_Mutation_p.P1310S|NCOA3_ENST00000371997.3_Missense_Mutation_p.P1301S|NCOA3_ENST00000341724.6_Missense_Mutation_p.P1236S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1310					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAACAGTTTCCATATCAACC	0.448000													13	31					0	0	0.003163	0	0
SMCHD1	23347	broad.mit.edu	37	18	2750448	2750448	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:2750448C>T	ENST00000320876.6	+	32	4446	c.4108C>T	c.(4108-4110)Cgt>Tgt	p.R1370C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1370C|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1370					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAACCCGTTCGTCTCAATGT	0.348000													6	20					0	0	0.001984	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363194	22363194	+	RNA	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:22363194T>C	ENST00000390438.2	+	0	453																											GGCTGAGTACTTCTGTGCTGT	0.483000													25	29					0	0	0.009535	0	0
OR8B4	283162	broad.mit.edu	37	11	124293956	124293956	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124293956C>T	ENST00000356130.3	-	1	833	c.812G>A	c.(811-813)aGa>aAa	p.R271K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGGCAAATCTGCCATGGTT	0.453000													35	5					0	0	0.003755	0	0
P2RX4	5025	broad.mit.edu	37	12	121660807	121660807	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121660807C>G	ENST00000337233.4	+	5	793	c.485C>G	c.(484-486)gCg>gGg	p.A162G	P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000543171.1_Missense_Mutation_p.A61G|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000359949.7_Missense_Mutation_p.A178G	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	162					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGAGGTGGCGGCCTGGTGC	0.562000													53	196					0	0	0.003610	0	0
PTF1A	256297	broad.mit.edu	37	10	23481535	23481535	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:23481535T>A	ENST00000376504.3	+	1	280	c.76T>A	c.(76-78)Ttc>Atc	p.F26I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	26					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGAGGACGACTTCTTCACCGA	0.657000													113	186					0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036398	21036398	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21036398G>A	ENST00000381545.3	+	13	1763	c.1544G>A	c.(1543-1545)aGa>aAa	p.R515K	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R515K|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R515K|LST3_ENST00000540229.1_Missense_Mutation_p.R515K	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	515					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTCCAGAACAGAAATTACTCA	0.333000													14	39					0	0	0.006122	0	0
CASC3	22794	broad.mit.edu	37	17	38296815	38296815	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38296815G>C	ENST00000264645.7	+	1	240	c.14G>C	c.(13-15)cGg>cCg	p.R5P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	5					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCGGACCGGCGGCGGCAGCGC	0.706000													12	66					0	0	0.003163	0	0
PLEK	5341	broad.mit.edu	37	2	68622819	68622819	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:68622819G>C	ENST00000234313.7	+	9	1103	c.924G>C	c.(922-924)aaG>aaC	p.K308N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	308	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGGCAGGAAGAGTGAGGAAG	0.512000													36	78					0	0	0.006230	0	0
CRNN	49860	broad.mit.edu	37	1	152383340	152383340	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152383340T>C	ENST00000271835.3	-	3	280	c.218A>G	c.(217-219)gAa>gGa	p.E73G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCAGGAATTCCTTGAATTC	0.537000													33	142					0	0	0.009535	0	0
ARID1A	8289	broad.mit.edu	37	1	27100165	27100165	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:27100165C>T	ENST00000324856.7	+	16	4332	c.3961C>T	c.(3961-3963)Cct>Tct	p.P1321S	ARID1A_ENST00000374152.2_Missense_Mutation_p.P938S|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1321S|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1321					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGTATTCTCCTAGCCGCTA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								30	51					0	0	0.010818	0	0
SHOC2	8036	broad.mit.edu	37	10	112769567	112769567	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:112769567A>T	ENST00000369452.4	+	8	1864	c.1519A>T	c.(1519-1521)Act>Tct	p.T507S	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.T461S	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	507					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAACCTACTTACTCACCTTCC	0.398000													11	36					0	0	0.008291	0	0
LILRA3	11026	broad.mit.edu	37	19	54803737	54803737	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:54803737G>A	ENST00000391745.1	-	7	454	c.138C>T	c.(136-138)ccC>ccT	p.P46P	LILRA3_ENST00000251390.3_Silent_p.P29P|LILRA3_ENST00000391744.3_Silent_p.P29P					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCAGAGGGTGGGCTTGGGGA	0.577000													33	58					0	0	0.006999	0	0
ST13	6767	broad.mit.edu	37	22	41244318	41244318	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:41244318G>A	ENST00000216218.3	-	3	705	c.224C>T	c.(223-225)tCa>tTa	p.S75L		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	75							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTCCTCACTTGATGGTTCGTC	0.348000													13	30					0	0	0.003163	0	0
LRIF1	55791	broad.mit.edu	37	1	111494808	111494808	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:111494808G>A	ENST00000369763.4	-	2	1088	c.698C>T	c.(697-699)tCt>tTt	p.S233F	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATTTACAGGAGATACATAAAT	0.398000													21	43					0	0	0.002780	0	0
FCRL6	343413	broad.mit.edu	37	1	159778028	159778028	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:159778028G>A	ENST00000321935.6	+	4	220	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	FCRL6_ENST00000339348.5_Missense_Mutation_p.R38Q|FCRL6_ENST00000368106.3_Missense_Mutation_p.R38Q|FCRL6_ENST00000392235.3_Missense_Mutation_p.R38Q			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	38	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CTGACTCTGCGATGTCAGGGA	0.512000													12	58					0	0	0.010729	0	0
MCUR1	63933	broad.mit.edu	37	6	13801538	13801538	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:13801538G>A	ENST00000379170.4	-	4	861	c.723C>T	c.(721-723)gcC>gcT	p.A241A		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		CTGCTCTGAGGGCTGAAAATT	0.333000													32	151					0	0	0.004878	0	0
VPS28	51160	broad.mit.edu	37	8	145649393	145649393	+	Silent	SNP	G	G	A	rs149066828	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145649393G>A	ENST00000377348.2	-	9	668	c.579C>T	c.(577-579)ccC>ccT	p.P193P	VPS28_ENST00000292510.4_Intron|VPS28_ENST00000526054.1_Intron|VPS28_ENST00000529182.1_Silent_p.P193P	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGGGCACTGCGGGGCTCTGCC	0.701000													63	18					0	0	0.003610	0	0
GABRE	2564	broad.mit.edu	37	X	151124192	151124192	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:151124192G>A	ENST00000370325.1	-	7	978	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GABRE_ENST00000370328.3_Missense_Mutation_p.R309W|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	309					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGAGGTCCGGGCTGGAGCA	0.522000													83	16					0	0	0.003610	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929547	240929547	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:240929547G>A	ENST00000252711.2	-	9	1043	c.943C>T	c.(943-945)Ccg>Tcg	p.P315S	NDUFA10_ENST00000307300.4_Missense_Mutation_p.P345S|NDUFA10_ENST00000404554.1_Missense_Mutation_p.P315S	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	315					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTGACTTCCGGGAGAAAGATA	0.428000													23	52					0	0	0.003330	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142224037	142224037	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:142224037G>A	ENST00000390367.3	-	0	146																											CCAGAAATAGGATCACACCAA	0.488000													30	38					0	0	0.009535	0	0
HYDIN	54768	broad.mit.edu	37	16	70926270	70926270	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:70926270G>A	ENST00000393567.2	-	56	9561	c.9411C>T	c.(9409-9411)cgC>cgT	p.R3137R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3137										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTACCTGACAGCGCAGAACAG	0.493000													12	27					0	0	0.001855	0	0
ZIM2	23619	broad.mit.edu	37	19	57286781	57286781	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57286781C>T	ENST00000391708.3	-	12	1401	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.E287K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E287K|ZIM2_ENST00000601070.1_Missense_Mutation_p.E287K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E287K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCTCAAATTCATCACTGCCA	0.463000													25	48					0	0	0.005443	0	0
MCUR1	63933	broad.mit.edu	37	6	13801539	13801539	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:13801539G>A	ENST00000379170.4	-	4	860	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		TGCTCTGAGGGCTGAAAATTC	0.333000													32	149					0	0	0.004289	0	0
SV2C	22987	broad.mit.edu	37	5	75490882	75490882	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:75490882G>A	ENST00000502798.2	+	3	1161	c.719G>A	c.(718-720)gGt>gAt	p.G240D	SV2C_ENST00000322285.7_Missense_Mutation_p.G240D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	240					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTTGTCCAAGGTTATGGCTTC	0.403000													90	155					0	0	0.003610	0	0
KRBA1	84626	broad.mit.edu	37	7	149428761	149428761	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149428761G>A	ENST00000255992.10	+	17	2542		c.e17-1		KRBA1_ENST00000485033.2_Splice_Site|KRBA1_ENST00000319551.8_Splice_Site|KRBA1_ENST00000479560.1_Splice_Site	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTTCTATAGGTACAGCTCA	0.502000													7	11					0	0	0.001984	0	0
CD86	942	broad.mit.edu	37	3	121822563	121822563	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121822563C>T	ENST00000330540.2	+	3	385	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.S84L|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.S8L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	90	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTTTTGATTCGGACAGTTGG	0.433000													31	46					0	0	0.010818	0	0
OR6C6	283365	broad.mit.edu	37	12	55688381	55688381	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:55688381C>T	ENST00000358433.2	-	1	635	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAGAGAGAATCACTAATACCA	0.413000													15	27					0	0	0.002450	0	0
ABCB9	23457	broad.mit.edu	37	12	123444367	123444367	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:123444367G>A	ENST00000542678.1	-	2	3254	c.416C>T	c.(415-417)aCc>aTc	p.T139I	ABCB9_ENST00000392439.3_Missense_Mutation_p.T139I|ABCB9_ENST00000540285.1_Missense_Mutation_p.T139I|ABCB9_ENST00000442833.2_Missense_Mutation_p.T139I|ABCB9_ENST00000442028.2_Missense_Mutation_p.T139I|ABCB9_ENST00000344275.7_Missense_Mutation_p.T139I|ABCB9_ENST00000280560.8_Missense_Mutation_p.T139I|ABCB9_ENST00000346530.5_Missense_Mutation_p.T139I			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	139					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		TGGCCGCACGGTGGACAGCAG	0.716000													11	21					0	0	0.001368	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097730	121097730	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121097730G>A	ENST00000273666.6	+	22	2687	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E782K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E782K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E806K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	806					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTTACAACAGAAGGTATGTT	0.383000													13	18					0	0	0.002450	0	0
KIF13B	23303	broad.mit.edu	37	8	28980985	28980985	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:28980985C>T	ENST00000524189.1	-	28	3415	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1126					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGCGCTTCACGGTCAGCATC	0.493000													52	81					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2857600	2857600	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:2857600C>T	ENST00000602557.1	-	54	8641	c.8086G>A	c.(8086-8088)Ggc>Agc	p.G2696S	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2637S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2695S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2638S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2638S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2696S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2696	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACTGAAGCCATCTCCACTA	0.468000													46	17					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9083300	9083300	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9083300C>T	ENST00000397910.4	-	1	8718	c.8515G>A	c.(8515-8517)Gct>Act	p.A2839T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2839	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						GATTGAGTAGCTGTCAGTCTG	0.512000													12	11					0	0	0.010729	0	0
MYO18A	399687	broad.mit.edu	37	17	27493258	27493258	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27493258G>A	ENST00000527372.1	-	2	881	c.701C>T	c.(700-702)tCc>tTc	p.S234F	MYO18A_ENST00000533112.1_Missense_Mutation_p.S234F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S234F|MYO18A_ENST00000531253.1_Missense_Mutation_p.S234F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	234	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGCCGCAGGGAGAAGCCAAA	0.697000													24	38					0	0	0.003330	0	0
ATP11B	23200	broad.mit.edu	37	3	182554169	182554169	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:182554169C>T	ENST00000323116.5	+	6	723	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ATP11B_ENST00000482794.1_3'UTR|ATP11B_ENST00000493826.1_Missense_Mutation_p.P155S	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	155					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAATTTTTCCTGCAGACTT	0.393000													34	68					0	0	0.003271	0	0
TMCC3	57458	broad.mit.edu	37	12	94975610	94975610	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:94975610C>T	ENST00000261226.4	-	2	914	c.783G>A	c.(781-783)acG>acA	p.T261T	TMCC3_ENST00000551457.1_Silent_p.T230T	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	261						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCGAGCCTGACGTGCCACTCG	0.597000													40	57					0	0	0.008740	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532385	40532385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:40532385G>A	ENST00000297737.6	-	5	561	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	139						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCTCTTCTTTGATAGGGAGAT	0.507000													132	40					0	0	0.003610	0	0
WNT8B	7479	broad.mit.edu	37	10	102222948	102222948	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:102222948T>C	ENST00000343737.5	+	1	151	c.23T>C	c.(22-24)gTg>gCg	p.V8A		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	8					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AAGCCTTCTGTGTACATCTGT	0.433000													31	54					0	0	0.004289	0	0
C2orf54	79919	broad.mit.edu	37	2	241835039	241835039	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:241835039C>T	ENST00000388934.4	-	1	534	c.376G>A	c.(376-378)Gag>Aag	p.E126K		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	126										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AAGGTATCCTCGGTGGTCCAC	0.622000													10	16					0	0	0.008291	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225311	50225311	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:50225311C>T	ENST00000002829.3	+	19	2605	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	SEMA3F_ENST00000413852.1_Silent_p.F608F|SEMA3F_ENST00000434342.1_Silent_p.F676F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	707					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTGCCCTCTTCCCACCACTGT	0.652000													5	22					0	0	0.000602	0	0
SCN5A	6331	broad.mit.edu	37	3	38622599	38622599	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38622599C>T	ENST00000413689.1	-	17	3244	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	SCN5A_ENST00000449557.2_Silent_p.E1017E|SCN5A_ENST00000414099.2_Silent_p.E1017E|SCN5A_ENST00000455624.2_Silent_p.E1017E|SCN5A_ENST00000450102.2_Silent_p.E1017E|SCN5A_ENST00000451551.2_Silent_p.E1017E|SCN5A_ENST00000425664.1_Silent_p.E1017E|SCN5A_ENST00000443581.1_Silent_p.E1017E|SCN5A_ENST00000333535.4_Silent_p.E1017E|SCN5A_ENST00000423572.2_Silent_p.E1017E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1017					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGCACCTTCTCCGTCTCTG	0.697000													8	12					0	0	0.006214	0	0
CD300LG	146894	broad.mit.edu	37	17	41939261	41939261	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:41939261G>A	ENST00000317310.4	+	7	1022	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	327						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGGCTTCTCGAAGTTTGTCT	0.607000													16	19					0	0	0.006122	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594957	41594957	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41594957G>A	ENST00000330436.3	+	2	304	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	102					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAGCGGGCGAGGCGAGCAGGC	0.642000													12	25					0	0	0.004007	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159904	167159904	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:167159904G>A	ENST00000476257.1	-	10	1509	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S404L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S404L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S404L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	404					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CATTCACAGTGAATCTAAATC	0.318000													5	17					0	0	0.001168	0	0
VPS13C	54832	broad.mit.edu	37	15	62228933	62228933	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:62228933T>A	ENST00000261517.5	-	48	5691	c.5618A>T	c.(5617-5619)gAt>gTt	p.D1873V	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1830V|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1873V|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1830V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1873					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTCAAGTCATCTTCACTGAG	0.353000													15	15					0	0	0.006122	0	0
TAF3	83860	broad.mit.edu	37	10	8007004	8007004	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:8007004G>C	ENST00000344293.5	+	3	1737	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	511	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGTGTATGAGGAGAAAACCAA	0.443000													45	69					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26388449	26388449	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26388449G>A	ENST00000335473.7	+	40	6527	c.6277G>A	c.(6277-6279)Gat>Aat	p.D2093N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2094N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2093N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2093						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTGACAGTGATACTGAGAG	0.622000													16	19					0	0	0.007413	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482417	102482417	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:102482417C>T	ENST00000360184.4	+	36	7631	c.7467C>T	c.(7465-7467)taC>taT	p.Y2489Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2489					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGCGCTACATTCAGGTCA	0.612000													5	6					0	0	0.000602	0	0
SORBS1	10580	broad.mit.edu	37	10	97096832	97096832	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:97096832G>A	ENST00000371247.2	-	30	3274	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	SORBS1_ENST00000361941.3_Missense_Mutation_p.P1029S|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P983S|SORBS1_ENST00000353505.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1029					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GACAGGGAGGGACTGGCCCTT	0.592000													10	23					0	0	0.010729	0	0
RPL8	6132	broad.mit.edu	37	8	146017431	146017431	+	Silent	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:146017431G>C	ENST00000262584.3	-	2	316	c.84C>G	c.(82-84)cgC>cgG	p.R28R	RPL8_ENST00000394920.2_Silent_p.R28R|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000527914.1_Silent_p.R28R|RPL8_ENST00000528957.1_Silent_p.R28R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	28					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CGGCGCGCAGGCGCGCAGCGC	0.711000													21	9					0	0	0.010504	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20249284C>T	ENST00000315957.4	+	1	884	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000													27	59					0	0	0.004656	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812645	49812645	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49812645G>A	ENST00000454748.3	-	6	1101	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SLC6A16_ENST00000335875.4_Silent_p.L300L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	300						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGAAACAGGGGAGCAGTACCA	0.468000													14	20					0	0	0.003163	0	0
JARID2	3720	broad.mit.edu	37	6	15497063	15497063	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:15497063C>T	ENST00000341776.2	+	7	1851	c.1607C>T	c.(1606-1608)cCg>cTg	p.P536L	JARID2_ENST00000397311.3_Missense_Mutation_p.P364L|JARID2_ENST00000541660.1_Missense_Mutation_p.P498L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	536					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTGCACAAGCCGCAGGACTCG	0.667000													10	10					0	0	0.008291	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141589	103141589	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:103141589G>A	ENST00000295269.4	+	10	2382	c.1925G>A	c.(1924-1926)gGt>gAt	p.G642D		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	642					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGAGGAAAGGTCACAGCCTG	0.517000													40	74					0	0	0.008740	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342748	117342748	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:117342748G>A	ENST00000321322.6	-	15	2970	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S720F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	930	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAAGTCCCAGGAATCTGGAGA	0.527000													36	10					0	0	0.003755	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670742	94670742	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94670742G>A	ENST00000260526.6	-	7	754	c.572C>T	c.(571-573)cCt>cTt	p.P191L	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.P191L	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	191					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAGTTCTAAAGGGGAAAAATT	0.333000													8	24					0	0	0.004482	0	0
CFHR2	3080	broad.mit.edu	37	1	196919997	196919997	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196919997C>T	ENST00000367415.4	+	3	383	c.269C>T	c.(268-270)cCt>cTt	p.P90L	CFHR2_ENST00000367421.3_Missense_Mutation_p.P90L|CFHR2_ENST00000476712.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	90	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGTTTCTTTCCTTTTGTGGAA	0.318000													35	49					0	0	0.005524	0	0
MSLNL	401827	broad.mit.edu	37	16	825618	825618	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:825618C>T	ENST00000293892.3	-	5	1142	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	105					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGCCCCGTTTCCCACATGTCG	0.721000													7	19					0	0	0.003080	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801345	140801345	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140801345G>A	ENST00000398587.2	+	1	584	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R184Q	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAACTGCGGGGCAGAACG	0.542000													9	14					0	0	0.008291	0	0
SCN3A	6328	broad.mit.edu	37	2	166011109	166011109	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166011109G>A	ENST00000360093.3	-	11	1724	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	SCN3A_ENST00000409101.3_Silent_p.G411G|SCN3A_ENST00000283254.7_Silent_p.G411G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	411						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AATAAAATGAGCCCAAGAAAA	0.428000													21	39					0	0	0.012319	0	0
MEGF11	84465	broad.mit.edu	37	15	66206298	66206298	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:66206298C>T	ENST00000409699.2	-	20	2659	c.2487G>A	c.(2485-2487)atG>atA	p.M829I	MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.M754I|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.M829I|MEGF11_ENST00000395614.1_Missense_Mutation_p.M2I|MEGF11_ENST00000288745.3_Missense_Mutation_p.M754I			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	829						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TCAGCTCCTCCATCATGAGGG	0.612000													10	26					0	0	0.008291	0	0
ALPK2	115701	broad.mit.edu	37	18	56202572	56202572	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:56202572C>T	ENST00000361673.3	-	5	5060	c.4847G>A	c.(4846-4848)gGa>gAa	p.G1616E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1616							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTGACATTTCCTTCAGGAGA	0.448000													22	52					0	0	0.010504	0	0
IGSF10	285313	broad.mit.edu	37	3	151171402	151171402	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:151171402C>T	ENST00000282466.3	-	3	484	c.485G>A	c.(484-486)gGa>gAa	p.G162E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	162					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCTGATTTCCTTCCAAGTG	0.408000													18	42					0	0	0.008871	0	0
BMP2	650	broad.mit.edu	37	20	6759539	6759539	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:6759539C>T	ENST00000378827.4	+	3	2213	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	332					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ATGCCCTTTTCCTCTGGCTGA	0.507000													23	41					0	0	0.003330	0	0
AKAP9	10142	broad.mit.edu	37	7	91715658	91715658	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:91715658G>A	ENST00000359028.2	+	37	9378	c.9153G>A	c.(9151-9153)acG>acA	p.T3051T	AKAP9_ENST00000356239.3_Silent_p.T3047T|AKAP9_ENST00000358100.2_Silent_p.T2997T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3051					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTCGGACGGAGCTGACAG	0.408000			T	BRAF	papillary thyroid								153	257					0	0	0.003610	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326909	89326909	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:89326909G>A	ENST00000483158.1	-	0	150																											TCTTTCCCCTGGAGACAAAGA	0.502000													30	61					0	0	0.005524	0	0
BRF2	55290	broad.mit.edu	37	8	37704431	37704431	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:37704431G>T	ENST00000220659.6	-	3	597	c.477C>A	c.(475-477)ctC>ctA	p.L159L	BRF2_ENST00000520601.1_Silent_p.L159L	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	159					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGTCCCAGGAGCTTCACTA	0.532000													197	65					1.47202e-86	1.63499e-86	0.003610	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762825	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:92762825G>A	ENST00000318238.4	-	5	3676	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	SAMD9L_ENST00000437805.1_Silent_p.S820S|SAMD9L_ENST00000411955.1_Silent_p.S820S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378000													55	59					0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51171225	51171225	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51171225C>T	ENST00000440970.1	-	3	3913	c.3482G>A	c.(3481-3483)gGt>gAt	p.G1161D	SALL1_ENST00000541611.1_Missense_Mutation_p.G81D|SALL1_ENST00000251020.4_Missense_Mutation_p.G1258D|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1258					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGGATGCCACCGTTCTGAAT	0.572000													18	35					0	0	0.007413	0	0
ZNF99	7652	broad.mit.edu	37	19	22941813	22941813	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22941813G>A	ENST00000397104.3	-	5	624	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	ZNF99_ENST00000596209.1_Missense_Mutation_p.L300F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCTAGTAAGGTGTGAGGAT	0.358000													14	24					0	0	0.004007	0	0
MICAL3	57553	broad.mit.edu	37	22	18382276	18382276	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:18382276T>G	ENST00000441493.2	-	7	1238	c.886A>C	c.(886-888)Aca>Cca	p.T296P	MICAL3_ENST00000400561.2_Missense_Mutation_p.T296P|MICAL3_ENST00000207726.7_Missense_Mutation_p.T296P|MICAL3_ENST00000414725.2_Missense_Mutation_p.T296P|MICAL3_ENST00000429452.1_Missense_Mutation_p.T296P|MICAL3_ENST00000585038.1_Missense_Mutation_p.T296P|MICAL3_ENST00000444520.1_Missense_Mutation_p.T296P|MICAL3_ENST00000383094.3_Missense_Mutation_p.T296P	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	296						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAATAGTGTGTGTCATCTTTG	0.433000													6	12					0	0	0.001168	0	0
CASZ1	54897	broad.mit.edu	37	1	10708136	10708136	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:10708136G>A	ENST00000377022.3	-	16	3536	c.3219C>T	c.(3217-3219)gcC>gcT	p.A1073A	CASZ1_ENST00000344008.5_Silent_p.A1073A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGCGGCCGAGGCCGGAAAGG	0.667000													4	1					0	0	0.001168	0	0
RHOT1	55288	broad.mit.edu	37	17	30533950	30533950	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:30533950G>A	ENST00000358365.3	+	17	1665	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	RHOT1_ENST00000545287.2_Missense_Mutation_p.E480K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E480K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E459K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E480K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E353K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E480K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	480	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTCAGAATCGGAATTTCTAAC	0.303000													17	27					0	0	0.004007	0	0
TRIML1	339976	broad.mit.edu	37	4	189068196	189068196	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:189068196G>A	ENST00000332517.3	+	6	1217	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	359	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			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)		GCATCTGCAAGGACTCTGTGA	0.532000													25	48					0	0	0.003330	0	0
ISM2	145501	broad.mit.edu	37	14	77948836	77948836	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:77948836C>T	ENST00000393684.3	-	5	929	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ISM2_ENST00000412904.1_Missense_Mutation_p.E187K|ISM2_ENST00000429906.1_Missense_Mutation_p.E187K|ISM2_ENST00000342219.4_Missense_Mutation_p.E268K|ISM2_ENST00000493585.1_Intron			Q6H9L7	ISM2_HUMAN	isthmin 2	268						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tcctccttttcctcccccttc	0.567000													28	27					0	0	0.004656	0	0
FCRL5	83416	broad.mit.edu	37	1	157497650	157497650	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:157497650G>A	ENST00000361835.3	-	9	1874	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	FCRL5_ENST00000368191.3_Missense_Mutation_p.P488S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P573S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P573S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	573	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P573S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGGGCCCTGGGAACCCTGAGG	0.527000													15	89					0	0	0.004990	0	0
OR51F1	256892	broad.mit.edu	37	11	4791139	4791139	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:4791139G>A	ENST00000380383.1	-	1	29	c.30C>T	c.(28-30)atC>atT	p.I10I	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.I3I|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	3						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTTGCTTAGGATTTCCATGG	0.388000													8	2					0	0	0.008291	0	0
CILP	8483	broad.mit.edu	37	15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:65490345C>T	ENST00000261883.4	-	9	2445	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	760					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547000													71	121					0	0	0.003610	0	0
TRAJ11	28744	broad.mit.edu	37	14	23001499	23001499	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23001499C>T	ENST00000390526.1	+	0	48																											GACTATGCTTCTAGTCTCTCC	0.433000													6	10					0	0	0.001984	0	0
ZFP90	146198	broad.mit.edu	37	16	68598392	68598392	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:68598392C>T	ENST00000570495.1	+	5	1994	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F	ZFP90_ENST00000398253.2_Missense_Mutation_p.L568F|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.L568F			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AAGTTCATCTCTCATTCAGCA	0.438000													45	104					0	0	0.013114	0	0
STK11IP	114790	broad.mit.edu	37	2	220467489	220467489	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220467489A>G	ENST00000456909.1	+	7	699	c.609A>G	c.(607-609)ggA>ggG	p.G203G	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Silent_p.G214G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	214					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTCAGGGATTCCTGATGG	0.527000													9	21					0	0	0.006214	0	0
HNF4A	3172	broad.mit.edu	37	20	43057089	43057089	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:43057089G>A	ENST00000316099.3	+	9	1333	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	HNF4A_ENST00000415691.1_Missense_Mutation_p.G415E|HNF4A_ENST00000457232.1_Missense_Mutation_p.G393E	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	415					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCAGCAACGGACAGATGTGT	0.587000													101	162					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11199584	11199584	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:11199584G>T	ENST00000304623.8	-	11	2140	c.1951C>A	c.(1951-1953)Ctg>Atg	p.L651M	CTNND2_ENST00000359640.2_Missense_Mutation_p.L651M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L560M|CTNND2_ENST00000503622.1_Missense_Mutation_p.L314M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.L218M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	651					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGGATCTCCAGGTCAGTCGTC	0.423000													43	87					2.0833e-19	2.30401e-19	0.003610	1	0
CNTN1	1272	broad.mit.edu	37	12	41422941	41422941	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:41422941C>T	ENST00000551295.2	+	23	3017	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	CNTN1_ENST00000348761.2_Missense_Mutation_p.P956L|CNTN1_ENST00000347616.1_Missense_Mutation_p.P967L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	967	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P967R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTCCCAATCCCCAGAGATGGA	0.443000													40	54					0	0	0.008740	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445949	87445949	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:87445949G>A	ENST00000268616.4	-	12	2184	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	656					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ATTAGGACAGGAAGTTTGCCC	0.537000													54	104					0	0	0.003610	0	0
ERAP2	64167	broad.mit.edu	37	5	96228051	96228051	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:96228051G>A	ENST00000437043.3	+	6	1730	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	ERAP2_ENST00000379904.4_Missense_Mutation_p.G295D|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	340					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GAAAATTGGGGCCTCATTACA	0.448000													30	38					0	0	0.012213	0	0
CPNE9	151835	broad.mit.edu	37	3	9754748	9754748	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:9754748A>C	ENST00000383832.3	+	10	825	c.635A>C	c.(634-636)aAt>aCt	p.N212T	CPNE9_ENST00000383831.3_Missense_Mutation_p.N212T	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	212	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCTCTGTGCAATGGAGACTAT	0.537000													9	20					0	0	0.004482	0	0
KRT38	8687	broad.mit.edu	37	17	39593779	39593779	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39593779G>A	ENST00000246646.3	-	7	1255	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	419	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGTGGAGCACGGATTGCAGGG	0.632000													12	12					0	0	0.001368	0	0
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:151015476G>T	ENST00000295294.7	+	5	841	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	BNIPL_ENST00000368931.3_Nonsense_Mutation_p.E160*	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	160					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.542000													45	157					5.34276e-22	5.92574e-22	0.003610	1	0
FAM183B	340286	broad.mit.edu	37	7	38725369	38725369	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:38725369C>T	ENST00000409072.3	-	2	1171	c.237G>A	c.(235-237)acG>acA	p.T79T						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GGTACTTCTTCGTTGGCCCCT	0.542000													98	133					0	0	0.003610	0	0
PCSK5	5125	broad.mit.edu	37	9	78711013	78711013	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:78711013A>T	ENST00000545128.1	+	8	1640	c.1102A>T	c.(1102-1104)Aaa>Taa	p.K368*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.K368*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.K368*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	368	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						CTACGATAAGAAAATCGTACG	0.428000													11	8					0	0	0.010729	0	0
KAT6B	23522	broad.mit.edu	37	10	76735652	76735652	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:76735652C>T	ENST00000287239.4	+	8	2046	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	519	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTCCCTCTCCCCAGAGTTCTT	0.547000													31	47					0	0	0.010818	0	0
GPHB5	122876	broad.mit.edu	37	14	63784459	63784459	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:63784459G>A	ENST00000539258.1	-	0	161							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCACGGCACAGCCCACAAAGG	0.627000													14	41					0	0	0.001855	0	0
DDX25	29118	broad.mit.edu	37	11	125791205	125791205	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:125791205A>G	ENST00000263576.6	+	11	1476	c.1321A>G	c.(1321-1323)Aaa>Gaa	p.K441E	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	441	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CTTTGGGAAAAAAGGCCTTGC	0.488000													21	3					0	0	0.002780	0	0
KCNB2	9312	broad.mit.edu	37	8	73848694	73848694	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:73848694C>T	ENST00000523207.1	+	3	1692	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	368					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCACCAGTATCCCTGCATCAT	0.443000													98	24					0	0	0.003610	0	0
CHST10	9486	broad.mit.edu	37	2	101014572	101014572	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:101014572G>A	ENST00000264249.3	-	5	610	c.225C>T	c.(223-225)ctC>ctT	p.L75L	CHST10_ENST00000542617.1_Silent_p.L123L|CHST10_ENST00000409701.1_Silent_p.L75L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	75					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGGGCTGAACGAGCTGGCTGT	0.577000													27	45					0	0	0.006320	0	0
ITGAM	3684	broad.mit.edu	37	16	31341483	31341483	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31341483G>A	ENST00000544665.3	+	26	3132	c.3061G>A	c.(3061-3063)Gtg>Atg	p.V1021M	ITGAM_ENST00000287497.8_Missense_Mutation_p.V1020M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1020					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGCCCCCGTGGTGGTGAGAAG	0.597000													6	12					0	0	0.001984	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931667	11931667	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:11931667G>A	ENST00000571133.1	-	9	1522	c.1450C>T	c.(1450-1452)Ccc>Tcc	p.P484S	RSL1D1_ENST00000542106.1_Missense_Mutation_p.P264S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	484					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGTACTTTGGGTTTTTTGGGC	0.473000													82	122					0	0	0.003610	0	0
GINS4	84296	broad.mit.edu	37	8	41399330	41399330	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:41399330C>T	ENST00000523277.2	+	7	654	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	GINS4_ENST00000518671.1_Missense_Mutation_p.P163S|GINS4_ENST00000276533.3_Missense_Mutation_p.P163S|RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	163					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CCTGGCAGTTCCCAAACCAGA	0.443000													28	12					0	0	0.008361	0	0
CACNA1F	778	broad.mit.edu	37	X	49088167	49088167	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:49088167C>T	ENST00000376265.2	-	2	309	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R83Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	83					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GATGCAGGACCGTCGCAGAGG	0.607000													55	7					0	0	0.003610	0	0
AXL	558	broad.mit.edu	37	19	41748854	41748854	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41748854C>T	ENST00000301178.4	+	11	1569	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	AXL_ENST00000593513.1_Missense_Mutation_p.A192V|AXL_ENST00000359092.3_Missense_Mutation_p.A451V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	460						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAGTCGTGGCCGCTGCCTGT	0.567000													21	45					0	0	0.012319	0	0
ABCA2	20	broad.mit.edu	37	9	139915193	139915193	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:139915193G>A	ENST00000265662.5	-	9	1365	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Silent_p.F405F|ABCA2_ENST00000341511.6_Silent_p.F406F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	405					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAGCTGTACGAAGGCTGAGC	0.697000													7	1					0	0	0.004482	0	0
SPTB	6710	broad.mit.edu	37	14	65260452	65260452	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:65260452G>A	ENST00000389722.3	-	13	1982	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	SPTB_ENST00000389720.3_Silent_p.F643F|SPTB_ENST00000389721.5_Silent_p.F643F|SPTB_ENST00000542895.1_Silent_p.F643F|SPTB_ENST00000556626.1_Silent_p.F643F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	643					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCATCTCCCAGAAGAACTTCC	0.542000													18	40					0	0	0.007413	0	0
PAPPA	5069	broad.mit.edu	37	9	119158800	119158800	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:119158800C>T	ENST00000328252.3	+	22	5158	c.4789C>T	c.(4789-4791)Cct>Tct	p.P1597S	PAPPA_ENST00000534838.1_Missense_Mutation_p.P635S|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1597					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCCCATTCCCTATGTCCTG	0.522000													54	47					0	0	0.003610	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007017	32007017	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32007017T>C	ENST00000418967.2	+	3	597	c.439T>C	c.(439-441)Ttc>Ctc	p.F147L	CYP21A2_ENST00000435122.2_Missense_Mutation_p.F117L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	146					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GACCCAGGAGTTCTGTGAGGT	0.657000													70	247					0	0	0.003610	0	0
SF3B3	23450	broad.mit.edu	37	16	70597922	70597922	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:70597922C>G	ENST00000302516.5	+	18	2643	c.2432C>G	c.(2431-2433)aCg>aGg	p.T811R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	811					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACTGAGGCCACGAAAGCTCAG	0.438000													20	37					0	0	0.010504	0	0
CELSR1	9620	broad.mit.edu	37	22	46794452	46794452	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:46794452G>A	ENST00000262738.3	-	11	5494	c.5495C>T	c.(5494-5496)tCc>tTc	p.S1832F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1832	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGCGCACGGAGACCTTGTC	0.682000													20	40					0	0	0.002299	0	0
GLG1	2734	broad.mit.edu	37	16	74496043	74496043	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:74496043G>A	ENST00000422840.2	-	22	2984	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S	GLG1_ENST00000447066.2_Silent_p.S984S|GLG1_ENST00000205061.5_Silent_p.S995S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	995						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGTCCAGGGCGGACTCCTGGA	0.532000													28	53					0	0	0.008361	0	0
DSG4	147409	broad.mit.edu	37	18	28965108	28965108	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:28965108G>A	ENST00000359747.4	+	2	87	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E20K|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	20					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGGTGATGGAAGTAAACAG	0.229000													14	26					0	0	0.003163	0	0
DENND2A	27147	broad.mit.edu	37	7	140301517	140301517	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:140301517G>A	ENST00000275884.6	-	2	1098	c.681C>T	c.(679-681)ccC>ccT	p.P227P	DENND2A_ENST00000492720.1_Silent_p.P227P|DENND2A_ENST00000537639.1_Silent_p.P227P|DENND2A_ENST00000496613.1_Silent_p.P227P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	227										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTCAGGGGTGGGCTCCCTGC	0.637000													94	164					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123554600	123554600	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:123554600G>A	ENST00000422452.2	-	25	4606	c.4543C>T	c.(4543-4545)Ctc>Ttc	p.L1515F	TENM1_ENST00000371130.3_Missense_Mutation_p.L1508F|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCACATAGAGGGTTCCATCA	0.473000													85	16					0	0	0.003610	0	0
FHDC1	85462	broad.mit.edu	37	4	153897236	153897236	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:153897236C>T	ENST00000511601.1	+	12	2981	c.2793C>T	c.(2791-2793)ccC>ccT	p.P931P	FHDC1_ENST00000260008.3_Silent_p.P931P			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	931					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)					CCCAGAATCCCCCCAGCAGCA	0.672000													6	16					0	0	0.001168	0	0
NRAP	4892	broad.mit.edu	37	10	115349449	115349449	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:115349449C>T	ENST00000369358.4	-	41	5332	c.5088G>A	c.(5086-5088)agG>agA	p.R1696R	NRAP_ENST00000369360.3_Silent_p.R1661R|NRAP_ENST00000359988.3_Silent_p.R1688R|NRAP_ENST00000360478.3_Silent_p.R1653R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1688				Y -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).		fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GACCCAGGCCCCTTGCGTTGG	0.552000													32	55					0	0	0.009535	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236441	47236441	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:47236441G>A	ENST00000300404.2	+	6	780	c.721G>A	c.(721-723)Gat>Aat	p.D241N	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D155N|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D181N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	241					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CACCCTTGCTGATGTCCCAGA	0.517000													57	138					0	0	0.003610	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:39472825C>T	ENST00000518318.2	+	7	1218	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_ENST00000403058.1_Silent_p.I392I|POU6F2_ENST00000559001.1_Silent_p.I337I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000													52	66					0	0	0.003610	0	0
CERKL	375298	broad.mit.edu	37	2	182412563	182412563	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182412563C>T	ENST00000410087.3	-	9	1245	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	CERKL_ENST00000374970.2_Missense_Mutation_p.G313E|CERKL_ENST00000339098.5_Missense_Mutation_p.G408E|CERKL_ENST00000409440.3_Missense_Mutation_p.G364E|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.G269E	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	408					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTGGGAGATCCCTGTGCCCT	0.393000													55	77					0	0	0.003610	0	0
GTPBP1	9567	broad.mit.edu	37	22	39117758	39117758	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39117758T>C	ENST00000216044.5	+	5	1079	c.846T>C	c.(844-846)aaT>aaC	p.N282N		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	282					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGGCAGCAATGCTGGCATCG	0.532000													16	36					0	0	0.003163	0	0
STAC2	342667	broad.mit.edu	37	17	37371268	37371268	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:37371268C>T	ENST00000333461.5	-	6	1077	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCAGCTCATCCCGCTCACTCT	0.627000													55	153					0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36212031	36212031	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:36212031C>T	ENST00000303965.4	-	6	1957	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	490	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAGAGTTTATCCAGCCATCCT	0.383000													9	24					0	0	0.004482	0	0
NFASC	23114	broad.mit.edu	37	1	204923358	204923358	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:204923358G>A	ENST00000367172.4	+	6	586	c.258G>A	c.(256-258)aaG>aaA	p.K86K	NFASC_ENST00000360049.4_Silent_p.K80K|NFASC_ENST00000403080.1_Silent_p.K86K|NFASC_ENST00000401399.1_Silent_p.K86K|NFASC_ENST00000338515.6_Silent_p.K86K|NFASC_ENST00000338586.6_Silent_p.K86K|NFASC_ENST00000367170.4_Silent_p.K86K|NFASC_ENST00000513543.1_Silent_p.K80K|NFASC_ENST00000367171.4_Silent_p.K86K|NFASC_ENST00000339876.6_Silent_p.K86K|NFASC_ENST00000404076.1_Silent_p.K80K|NFASC_ENST00000404907.1_Silent_p.K80K|NFASC_ENST00000539706.1_Silent_p.K80K|NFASC_ENST00000367169.4_Silent_p.K86K			O94856	NFASC_HUMAN	neurofascin	86	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATCGCCAAGGACCCCCGGG	0.602000													24	59					0	0	0.010818	0	0
CSMD2	114784	broad.mit.edu	37	1	34066541	34066541	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34066541C>T	ENST00000373381.4	-	44	6956	c.6780G>A	c.(6778-6780)caG>caA	p.Q2260Q	CSMD2_ENST00000373380.1_Silent_p.Q1133Q|CSMD2_ENST00000373388.2_Silent_p.Q359Q|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.Q359Q	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2262	CUB 13.					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)				TGGATGAACTCTGCACTGTTT	0.577000													42	72					0	0	0.003610	0	0
ROCK1	6093	broad.mit.edu	37	18	18534804	18534804	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:18534804G>A	ENST00000399799.1	-	31	4733	c.3793C>T	c.(3793-3795)Cat>Tat	p.H1265Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1265	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CACTTAACATGGCATCTTCGA	0.408000													19	44					0	0	0.006122	0	0
LRIT2	340745	broad.mit.edu	37	10	85982030	85982030	+	Silent	SNP	G	G	A	rs140213191		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:85982030G>A	ENST00000372113.4	-	3	1304	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	LRIT2_ENST00000538192.1_Silent_p.L443L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	433	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCTCTAGGCTGAGGCAGGCCT	0.557000													44	79					0	0	0.003610	0	0
SPATA20	64847	broad.mit.edu	37	17	48628457	48628457	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:48628457G>A	ENST00000006658.6	+	12	1602	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R	SPATA20_ENST00000393244.3_Silent_p.R434R|SPATA20_ENST00000356488.4_Silent_p.R478R|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	478					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGGCCGTGCGGACCTTGCTCA	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	0.003163	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218307	43218307	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:43218307G>A	ENST00000263245.5	-	9	1000	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	ARFGAP3_ENST00000437119.2_Silent_p.L217L|ARFGAP3_ENST00000429508.2_Silent_p.L189L	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	261					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ACCTTGGCCAGGTCTTCCTGC	0.343000													35	48					0	0	0.004878	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187717	81187717	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:81187717C>T	ENST00000525539.1	-	0	4254				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCTCTCTCCATCCAGGCCA	0.582000													5	11					0	0	0.000602	0	0
PLEC	5339	broad.mit.edu	37	8	145003683	145003683	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145003683G>C	ENST00000322810.4	-	24	3560	c.3391C>G	c.(3391-3393)Ctg>Gtg	p.L1131V	PLEC_ENST00000345136.3_Missense_Mutation_p.L994V|PLEC_ENST00000357649.2_Missense_Mutation_p.L998V|PLEC_ENST00000436759.2_Missense_Mutation_p.L1021V|PLEC_ENST00000354958.2_Missense_Mutation_p.L972V|PLEC_ENST00000398774.2_Missense_Mutation_p.L962V|PLEC_ENST00000356346.3_Missense_Mutation_p.L980V|PLEC_ENST00000354589.3_Missense_Mutation_p.L994V|PLEC_ENST00000527096.1_Missense_Mutation_p.L1017V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1131	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCAGCTGCAGCCGGATGTCT	0.672000													21	12					0	0	0.012319	0	0
MEGF8	1954	broad.mit.edu	37	19	42880504	42880504	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:42880504A>G	ENST00000334370.4	+	41	8549	c.7914A>G	c.(7912-7914)ccA>ccG	p.P2638P	MEGF8_ENST00000378073.4_Silent_p.P299P|MEGF8_ENST00000251268.6_Silent_p.P2705P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2705						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCTGCTTCCCACCTGACCCTA	0.697000													12	36					0	0	0.004990	0	0
TSC2	7249	broad.mit.edu	37	16	2114419	2114419	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2114419C>T	ENST00000219476.3	+	15	2220	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	TSC2_ENST00000401874.2_Silent_p.I530I|TSC2_ENST00000439673.2_Silent_p.I493I|TSC2_ENST00000382538.6_Silent_p.I481I|TSC2_ENST00000353929.4_Silent_p.I530I|TSC2_ENST00000568454.1_Silent_p.I541I|TSC2_ENST00000350773.4_Silent_p.I530I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	530					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCTGGACATCATCGAGAAGG	0.627000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	42					0	0	0.002780	0	0
AKNA	80709	broad.mit.edu	37	9	117139527	117139527	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:117139527G>A	ENST00000307564.4	-	3	721	c.560C>T	c.(559-561)tCc>tTc	p.S187F	AKNA_ENST00000374088.3_Missense_Mutation_p.S187F|AKNA_ENST00000312033.3_Missense_Mutation_p.S187F|AKNA_ENST00000374075.5_Missense_Mutation_p.S106F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTTGACCTCGGAATGTTCAGA	0.592000													26	23					0	0	0.005443	0	0
FRY	10129	broad.mit.edu	37	13	32760500	32760500	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:32760500G>A	ENST00000380250.3	+	27	3919	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACTCCTCTGGATCGTTACA	0.438000													28	21					0	0	0.005443	0	0
ABCC1	4363	broad.mit.edu	37	16	16162084	16162084	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:16162084C>T	ENST00000399408.2	+	13	1924	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000399410.3_Silent_p.F583F|ABCC1_ENST00000345148.5_Silent_p.F583F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	583	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGACAGCCTTCGTGTCTTTGG	0.562000													44	57					0	0	0.003610	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643035	129643035	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:129643035A>G	ENST00000319119.4	+	2	1442	c.1357A>G	c.(1357-1359)Aaa>Gaa	p.K453E	ZBTB34_ENST00000373452.2_Missense_Mutation_p.K449E	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCACTTGCGGAAAAACCACCC	0.527000													16	13					0	0	0.006122	0	0
ADAM21	8747	broad.mit.edu	37	14	70925726	70925726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:70925726C>T	ENST00000603540.1	+	2	1768	c.1510C>T	c.(1510-1512)Caa>Taa	p.Q504*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.Q504*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	504	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTACTGCTATCAAAAGAGGTG	0.428000													9	86					0	0	0.006214	0	0
GAPT	202309	broad.mit.edu	37	5	57790406	57790406	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:57790406G>A	ENST00000396776.2	+	3	505	c.43G>A	c.(43-45)Gga>Aga	p.G15R	GAPT_ENST00000318469.2_Missense_Mutation_p.G15R	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	15					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CATTTCTGTAGGAATTTCGCT	0.403000													10	36					0	0	0.010729	0	0
OXSR1	9943	broad.mit.edu	37	3	38278449	38278449	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38278449C>T	ENST00000311806.3	+	11	1443	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	OXSR1_ENST00000446845.1_Silent_p.L357L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	357					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCACAACTCAGGGTAAATT	0.378000													24	47					0	0	0.003330	0	0
ZFHX3	463	broad.mit.edu	37	16	72992931	72992931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:72992931G>A	ENST00000268489.5	-	2	1786	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	372					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R372*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTTCCATTCGAATGCCACTA	0.537000													32	70					0	0	0.003271	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037156	44037156	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:44037156C>T	ENST00000372712.2	+	2	630	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R17W|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R115W|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R17W|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R17W|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R17W|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R17W|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R119W			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	115					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCTCCGCCTTCGGGAGCGGCA	0.552000													34	45					0	0	0.002836	0	0
NDC1	55706	broad.mit.edu	37	1	54284681	54284681	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:54284681G>A	ENST00000371429.3	-	6	1264	c.666C>T	c.(664-666)ttC>ttT	p.F222F	NDC1_ENST00000540001.1_Silent_p.F222F|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Silent_p.F107F|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTCTAACCAGGAACAGTGATT	0.323000													9	33					0	0	0.010729	0	0
ANGPT4	51378	broad.mit.edu	37	20	896658	896658	+	Missense_Mutation	SNP	G	G	A	rs140900541		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:896658G>A	ENST00000381922.3	-	1	302	c.200C>T	c.(199-201)aCc>aTc	p.T67I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T67I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	67					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTCTGGAGGGTGTTGGAGTC	0.607000													30	66					0	0	0.012213	0	0
ATP2A2	488	broad.mit.edu	37	12	110783854	110783854	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:110783854C>T	ENST00000395494.2	+	18	3272	c.2709C>T	c.(2707-2709)atC>atT	p.I903I	ATP2A2_ENST00000539276.2_Silent_p.I930I|ATP2A2_ENST00000308664.6_Silent_p.I930I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	930					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GGGAGAACATCTGGCTCGTGG	0.597000													31	62					0	0	0.012213	0	0
AADAC	13	broad.mit.edu	37	3	151535366	151535366	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:151535366G>A	ENST00000232892.6	+	2	477	c.351G>A	c.(349-351)gtG>gtA	p.V117V	AADAC_ENST00000488869.1_Silent_p.V117V|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	117					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCTGGTGCGTGGGAAGTGCTG	0.443000													17	39					0	0	0.007413	0	0
TNIP3	79931	broad.mit.edu	37	4	122059830	122059830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:122059830G>A	ENST00000454328.1	-	12	1122	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Intron|TNIP3_ENST00000507879.1_Intron|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.Q299*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	299										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCATACCACTGATAGTCTGGC	0.383000													19	43					0	0	0.008871	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80203599	80203599	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:80203599G>A	ENST00000450142.2	-	10	1697	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	PPP1R12A_ENST00000546369.1_Silent_p.S390S|PPP1R12A_ENST00000437004.2_Silent_p.S477S|PPP1R12A_ENST00000550107.1_Silent_p.S477S|PPP1R12A_ENST00000261207.5_Silent_p.S477S	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	477						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCAAAGAGGAGGAAAGTCTGG	0.383000													10	20					0	0	0.008291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681088	176681088	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:176681088C>T	ENST00000367662.3	+	12	4933	c.3769C>T	c.(3769-3771)Ctg>Ttg	p.L1257L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1257					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAAGGTAGCCTGAAGAAAGA	0.468000													13	69					0	0	0.001855	0	0
EPHA10	284656	broad.mit.edu	37	1	38184483	38184483	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:38184483G>A	ENST00000373048.4	-	16	2761	c.2762C>T	c.(2761-2763)cCc>cTc	p.P921L	EPHA10_ENST00000330210.7_Missense_Mutation_p.P416L|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.P921L|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	921						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAGTGGGGTGGGAGGCCTGCG	0.667000													6	15					0	0	0.003080	0	0
NLRP10	338322	broad.mit.edu	37	11	7981691	7981691	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:7981691C>T	ENST00000328600.2	-	2	1629	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	490							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGCGGGACTCCTTCCCCAGC	0.498000													79	28					0	0	0.003610	0	0
EVC2	132884	broad.mit.edu	37	4	5570324	5570324	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:5570324G>A	ENST00000310917.2	-	20	3895	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	EVC2_ENST00000344938.1_Missense_Mutation_p.P1135L|EVC2_ENST00000344408.5_Missense_Mutation_p.P1135L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1135						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CGTGGCCCCGGGCACCATGGC	0.622000													13	25					0	0	0.002450	0	0
C12orf36	283422	broad.mit.edu	37	12	13526360	13526360	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:13526360C>T	ENST00000318426.2	-	3	412	c.195G>A	c.(193-195)ggG>ggA	p.G65G	C12orf36_ENST00000527705.2_Silent_p.G65G					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ATTCCTCATTCCCAAATCTGT	0.458000													21	26					0	0	0.008871	0	0
SALL3	27164	broad.mit.edu	37	18	76754424	76754424	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:76754424G>A	ENST00000536229.3	+	1	2743	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	SALL3_ENST00000537592.2_Silent_p.L811L|SALL3_ENST00000575389.2_Silent_p.L811L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCTGAGCTGAAGGACGCGG	0.662000													7	13					0	0	0.004482	0	0
TP53I13	90313	broad.mit.edu	37	17	27899166	27899166	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27899166G>A	ENST00000301057.7	+	6	635	c.520G>A	c.(520-522)Gct>Act	p.A174T	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	174						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		TTAGGCCCTGGCTCTGGCCTT	0.647000													17	25					0	0	0.004007	0	0
LRRC27	80313	broad.mit.edu	37	10	134147046	134147046	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134147046C>T	ENST00000392638.2	+	2	213	c.18C>T	c.(16-18)tcC>tcT	p.S6S	LRRC27_ENST00000368615.3_Silent_p.S6S|LRRC27_ENST00000356571.4_Silent_p.S6S|LRRC27_ENST00000368614.3_Silent_p.S6S|LRRC27_ENST00000344079.5_Silent_p.S6S|LRRC27_ENST00000368613.4_Silent_p.S6S			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	6										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAAGCAGCTCCTACGAAGTTC	0.567000													15	24					0	0	0.004990	0	0
OR7D4	125958	broad.mit.edu	37	19	9325295	9325295	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9325295G>A	ENST00000308682.2	-	1	247	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGTGGAGATGAAACAGATGT	0.512000													29	48					0	0	0.007291	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23598636	23598636	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:23598636G>A	ENST00000570319.1	-	2	173	c.173C>T	c.(172-174)cCt>cTt	p.P58L	NDUFAB1_ENST00000007516.3_Missense_Mutation_p.P58L			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	58					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	AACTCTACCAGGAACCTAGAG	0.463000													9	23					0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100349677	100349677	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100349677C>T	ENST00000542585.1	+	0	2097				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTTCCACAGAAAAA	0.522000													48	70					0	0	0.003610	0	0
APBA2	321	broad.mit.edu	37	15	29346605	29346605	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:29346605C>T	ENST00000558402.1	+	5	1117	c.518C>T	c.(517-519)tCc>tTc	p.S173F	APBA2_ENST00000558330.1_Missense_Mutation_p.S173F|APBA2_ENST00000558259.1_Missense_Mutation_p.S173F|APBA2_ENST00000411764.1_Missense_Mutation_p.S173F|APBA2_ENST00000561069.1_Missense_Mutation_p.S173F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	173				DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GATGAGCCCTCCGTCCTTGAG	0.652000													9	24					0	0	0.006214	0	0
TTC3	7267	broad.mit.edu	37	21	38534350	38534350	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:38534350C>T	ENST00000399017.2	+	31	5902	c.3155C>T	c.(3154-3156)tCa>tTa	p.S1052L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.S1052L|TTC3_ENST00000354749.2_Missense_Mutation_p.S1052L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1052					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCATCACTTCAAGTGAAGAC	0.269000													8	7					0	0	0.003080	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038277	16038277	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:16038277C>T	ENST00000326742.7	-	3	361	c.360G>A	c.(358-360)aaG>aaA	p.K120K	CYP4F11_ENST00000402119.3_Silent_p.K120K|CYP4F11_ENST00000248041.7_Silent_p.K120K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	120					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAATCATATCCTTGGGTGCGA	0.537000													75	138					0	0	0.003610	0	0
GEMIN5	25929	broad.mit.edu	37	5	154282156	154282156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:154282156G>A	ENST00000285873.7	-	20	2884	c.2809C>T	c.(2809-2811)Cag>Tag	p.Q937*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	937					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCAGTCTGGAGAACACCT	0.428000													30	49					0	0	0.010818	0	0
IFNAR2	3455	broad.mit.edu	37	21	34619116	34619116	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:34619116C>T	ENST00000433395.2	+	1	38	c.38C>T	c.(37-39)cCt>cTt	p.P13L	IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000413881.1_Silent_p.A33A|IFNAR2_ENST00000342136.4_Silent_p.A105A|IFNAR2_ENST00000342101.3_Silent_p.A105A|IFNAR2_ENST00000404220.3_Silent_p.A105A|IFNAR2_ENST00000382264.3_Silent_p.A105A|IFNAR2_ENST00000382241.3_Silent_p.A105A																							CACACGAGGCCTATGTCACCG	0.443000													7	19					0	0	0.001984	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000													33	50					0	0	0.004289	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776365	31776365	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:31776365G>A	ENST00000382902.1	-	11	2026	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V	OTUD7A_ENST00000307050.4_Missense_Mutation_p.A638V			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	638						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGCAGGCCGGCGAAGATGAA	0.667000													4	20					0	0	0.001168	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:18716344G>A	ENST00000433979.1	+	27	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1272K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1231K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000													10	26					0	0	0.006214	0	0
KCNH2	3757	broad.mit.edu	37	7	150648916	150648916	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150648916C>T	ENST00000392968.2	-	5	2397	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E	KCNH2_ENST00000430723.3_Missense_Mutation_p.G522E|KCNH2_ENST00000262186.5_Missense_Mutation_p.G522E|KCNH2_ENST00000330883.4_Missense_Mutation_p.G182E			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	522					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTTCAGCAGCCCGATCAGCTG	0.672000													21	21					0	0	0.002299	0	0
RGPD4	285190	broad.mit.edu	37	2	108487290	108487290	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:108487290G>A	ENST00000408999.3	+	20	2907	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D944N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	944					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTGAAAATGATACTGGCTT	0.413000													79	138					0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028629	27028629	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27028629G>A	ENST00000314616.6	+	37	5450	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1723K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1723					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACTCCTGGACGAGATGGATCG	0.642000													22	39					0	0	0.003330	0	0
FGL2	10875	broad.mit.edu	37	7	76828636	76828636	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:76828636C>T	ENST00000248598.5	-	1	507	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	159					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCAGCTTCTCCAGGCGACCA	0.378000													54	53					0	0	0.003610	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130501	52130501	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:52130501C>T	ENST00000222107.4	-	7	1421	c.1282_splice	c.e7-1	p.G428_splice	SIGLEC5_ENST00000534261.2_Splice_Site_p.G428_splice|SIGLEC5_ENST00000429354.3_Splice_Site_p.G428_splice|SIGLEC5_ENST00000570106.2_Splice_Site_p.G428_splice|SIGLEC5_ENST00000599649.1_Splice_Site_p.G428_splice			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	428					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GTTCGATCTCCCTGCAGAAAA	0.567000													17	29					0	0	0.004990	0	0
MYOG	4656	broad.mit.edu	37	1	203054834	203054834	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:203054834C>T	ENST00000241651.4	-	1	330	c.256G>A	c.(256-258)Gcc>Acc	p.A86T		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	86					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CTCAGTGTGGCCGCCCGCCGC	0.657000													23	92					0	0	0.003330	0	0
P4HA3	283208	broad.mit.edu	37	11	74013507	74013507	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:74013507G>A	ENST00000331597.4	-	3	519	c.474C>T	c.(472-474)gtC>gtT	p.V158V	P4HA3_ENST00000427714.2_Silent_p.V158V	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	158						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCTCTGAAAGACACCTCGGG	0.552000													111	35					0	0	0.003610	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784331	140784331	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140784331C>T	ENST00000573521.1	+	1	1812	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTTGGCTCTCCTACCGCC	0.617000													41	50					0	0	0.008740	0	0
NLRP3	114548	broad.mit.edu	37	1	247582221	247582221	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:247582221C>A	ENST00000366497.2	+	2	905	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	NLRP3_ENST00000391827.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000336119.3_Missense_Mutation_p.P42Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P42Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.P42Q	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCCCCCTCCCGAGGGGTCAG	0.557000													15	38					4.93089e-13	5.42995e-13	0.002450	1	0
HEPH	9843	broad.mit.edu	37	X	65390556	65390556	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:65390556G>A	ENST00000519389.1	+	2	485	c.306G>A	c.(304-306)acG>acA	p.T102T	HEPH_ENST00000374727.3_Silent_p.T51T|HEPH_ENST00000441993.2_Silent_p.T51T|HEPH_ENST00000343002.2_Silent_p.T48T|HEPH_ENST00000419594.1_Silent_p.T51T|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	48	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTCATCACGAACCAGCCTC	0.512000													19	4					0	0	0.008871	0	0
EML2	24139	broad.mit.edu	37	19	46117952	46117952	+	Missense_Mutation	SNP	G	G	A	rs140164971	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:46117952G>A	ENST00000536630.1	-	20	2183	c.2045C>T	c.(2044-2046)cCg>cTg	p.P682L	EML2_ENST00000245925.3_Missense_Mutation_p.P535L|EML2_ENST00000589876.1_Missense_Mutation_p.P535L|EML2_ENST00000587152.1_Missense_Mutation_p.P736L	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	535					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACAGGTAGCCGGGTCCCCTGG	0.527000													36	69					0	0	0.004289	0	0
ADAM28	10863	broad.mit.edu	37	8	24170961	24170961	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:24170961G>A	ENST00000265769.4	+	6	554	c.444G>A	c.(442-444)cgG>cgA	p.R148R	ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.R148R|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	148					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCATACATCGGGATGGACAGG	0.448000													39	8					0	0	0.004289	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458120	51458120	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:51458120G>T	ENST00000228515.1	-	5	1338	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	347					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGTCCAGGCTGGCACTAGAGC	0.582000													29	47					1.13719e-10	1.24873e-10	0.008361	1	0
TRIM46	80128	broad.mit.edu	37	1	155154623	155154623	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:155154623C>T	ENST00000368382.1	+	9	1952	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	TRIM46_ENST00000334634.4_Silent_p.P628P|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Silent_p.P628P|TRIM46_ENST00000545012.1_Silent_p.P502P|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	628	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGATCAGCCCCAGGTCAGACC	0.637000													8	34					0	0	0.004482	0	0
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:28671062C>T	ENST00000416984.2	-	6	852	c.493G>A	c.(493-495)Gag>Aag	p.E165K	INTS9_ENST00000521022.1_Missense_Mutation_p.E186K|INTS9_ENST00000521777.1_Missense_Mutation_p.E162K|INTS9_ENST00000397363.4_Missense_Mutation_p.E80K	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	186					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413000													63	24					0	0	0.003610	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228138	112228138	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:112228138G>A	ENST00000391338.1	+	1	826	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						CTGCAATTTGGAACCTCACCT	0.473000													45	67					0	0	0.011902	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371468	114371468	+	RNA	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:114371468A>G	ENST00000374304.1	-	0	331																											GGTCCGGATAACATGAGAAAC	0.502000													47	28					0	0	0.003610	0	0
KRT6A	3853	broad.mit.edu	37	12	52881598	52881598	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52881598G>A	ENST00000330722.6	-	9	1669	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	534	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCCAATGGCTCTGCCACT	0.587000													40	64					0	0	0.013114	0	0
BMP5	653	broad.mit.edu	37	6	55684473	55684473	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:55684473G>A	ENST00000370830.3	-	2	1361	c.663C>T	c.(661-663)atC>atT	p.I221I	BMP5_ENST00000446683.2_Silent_p.I221I	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	221					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCTTGATGATTTGATATA	0.328000													40	26					0	0	0.006999	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576568	158576568	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:158576568C>T	ENST00000361284.1	+	1	340	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TAACTGCTTCCTTCTGGCTGC	0.557000													106	109					0	0	0.003610	0	0
FDX1L	112812	broad.mit.edu	37	19	10426573	10426573	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:10426573C>T	ENST00000452032.2	-	1	112	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	FDX1L_ENST00000393708.3_Missense_Mutation_p.G34R|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.G37R|FDX1L_ENST00000494368.1_Intron																							ACCCCCTCCCCCGACCCGGAA	0.701000													15	19					0	0	0.003163	0	0
DKK2	27123	broad.mit.edu	37	4	107847039	107847039	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:107847039G>A	ENST00000285311.3	-	2	995	c.290C>T	c.(289-291)tCa>tTa	p.S97L	DKK2_ENST00000510463.1_Missense_Mutation_p.S51L|DKK2_ENST00000513208.1_5'UTR	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	97	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGGCCGATGATCCTTGGTG	0.507000													35	51					0	0	0.002836	0	0
QTRTD1	79691	broad.mit.edu	37	3	113784185	113784185	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:113784185C>T	ENST00000281273.4	+	3	338	c.81C>T	c.(79-81)acC>acT	p.T27T	QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000479882.1_Intron|QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000485050.1_Silent_p.T39T	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	27					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GGGACCACACCATGGATATTC	0.507000													18	39					0	0	0.006122	0	0
DAPP1	27071	broad.mit.edu	37	4	100756871	100756871	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:100756871G>A	ENST00000296414.7	+	2	274	c.193G>A	c.(193-195)Gag>Aag	p.E65K	DAPP1_ENST00000512369.1_Missense_Mutation_p.E65K			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	65	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GGACAGCAATGAGACCACCGG	0.527000													31	37					0	0	0.008361	0	0
MROH7	374977	broad.mit.edu	37	1	55119419	55119419	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:55119419G>A	ENST00000414150.2	+	3	1098	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	MROH7_ENST00000395690.2_Missense_Mutation_p.E274K|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.E274K|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.E274K					maestro heat-like repeat family member 7																		AAGTTCAAAGGAAACCATGAA	0.478000													28	34					0	0	0.008361	0	0
PAPLN	89932	broad.mit.edu	37	14	73733306	73733306	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:73733306G>A	ENST00000427855.1	+	24	3463	c.3361G>A	c.(3361-3363)Gac>Aac	p.D1121N	PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Missense_Mutation_p.D1105N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D1094N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D1121N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1121	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGGACCGAGACCAGCGATG	0.577000													21	30					0	0	0.008871	0	0
TCEB3	6924	broad.mit.edu	37	1	24080687	24080687	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24080687C>T	ENST00000418390.2	+	6	1984	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	571	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGCCTATCTCCCTAAAATGA	0.453000													36	52					0	0	0.007835	0	0
GRIA1	2890	broad.mit.edu	37	5	153085278	153085278	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:153085278C>T	ENST00000285900.5	+	11	1817	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	GRIA1_ENST00000521843.2_Missense_Mutation_p.P423S|GRIA1_ENST00000340592.5_Missense_Mutation_p.P492S|GRIA1_ENST00000448073.4_Missense_Mutation_p.P502S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P502S|GRIA1_ENST00000518142.1_Missense_Mutation_p.P412S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	492	Glutamate binding (By similarity).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCTGTGGCTCCCTTAACTAT	0.358000													12	20					0	0	0.010729	0	0
SHE	126669	broad.mit.edu	37	1	154461714	154461714	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:154461714G>A	ENST00000304760.2	-	3	923	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	279										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTCCTTGGAACTCCGTC	0.632000													23	94					0	0	0.002780	0	0
WDR19	57728	broad.mit.edu	37	4	39230141	39230141	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:39230141C>T	ENST00000399820.3	+	17	1967	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	WDR19_ENST00000288634.7_Missense_Mutation_p.P445S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	605					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CACCAAAGTTCCTTTTGCTCA	0.408000													20	38					0	0	0.012319	0	0
NCOR1	9611	broad.mit.edu	37	17	15973652	15973652	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:15973652C>T	ENST00000268712.3	-	31	4597	c.4340G>A	c.(4339-4341)cGg>cAg	p.R1447Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1463Q|NCOR1_ENST00000395857.3_Missense_Mutation_p.R31Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACGTGTGCCGGGAACGCAC	0.532000													38	64					0	0	0.006999	0	0
MSRB3	253827	broad.mit.edu	37	12	65720645	65720645	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:65720645C>T	ENST00000308259.5	+	3	390	c.116C>T	c.(115-117)tCc>tTc	p.S39F	MSRB3_ENST00000535664.1_Missense_Mutation_p.S39F|MSRB3_ENST00000355192.3_Missense_Mutation_p.S46F|MSRB3_ENST00000540804.1_Missense_Mutation_p.S46F	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	46					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTGGTCTTTTCCCAGCAGGAA	0.433000													11	22					0	0	0.003163	0	0
TEX10	54881	broad.mit.edu	37	9	103092373	103092373	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:103092373G>A	ENST00000374902.4	-	6	1505	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	TEX10_ENST00000537512.1_Silent_p.S378S|TEX10_ENST00000535814.1_Silent_p.S446S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	443						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CATTTGCCAGGGAGACCATGA	0.388000													32	25					0	0	0.008361	0	0
SLC26A6	65010	broad.mit.edu	37	3	48666117	48666117	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48666117G>A	ENST00000358747.6	-	14	1817	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	SLC26A6_ENST00000383733.3_Missense_Mutation_p.R544C|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R508C|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R544C|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R437C|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R544C	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6									p.R544C(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCGAGGAGCGGAAGACCTTC	0.602000													16	29					0	0	0.004007	0	0
H2AFY	9555	broad.mit.edu	37	5	134724714	134724714	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:134724714G>A	ENST00000511689.1	-	2	663	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	H2AFY_ENST00000312469.4_Missense_Mutation_p.P24S|H2AFY_ENST00000304332.4_Missense_Mutation_p.P24S|H2AFY_ENST00000423969.2_Missense_Mutation_p.P24S|H2AFY_ENST00000510038.1_Missense_Mutation_p.P24S	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	24	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCCCCACGGGAAAGATGACT	0.612000													16	42					0	0	0.004990	0	0
WDR49	151790	broad.mit.edu	37	3	167246950	167246950	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:167246950C>T	ENST00000308378.3	-	10	1545	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	WDR49_ENST00000476376.1_Missense_Mutation_p.E239K|WDR49_ENST00000453925.2_Missense_Mutation_p.E478K|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	414										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCCAAAAATTCAGCCAGAAGT	0.383000													16	28					0	0	0.004007	0	0
APOBEC3A	200315	broad.mit.edu	37	22	39357541	39357541	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39357541G>A	ENST00000402255.1	+	4	528	c.324G>A	c.(322-324)ggG>ggA	p.G108G	APOBEC3A_ENST00000249116.2_Silent_p.G108G					apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					GCTGTGCCGGGGAAGTGCGTG	0.562000													49	45					0	0	0.003610	0	0
TRIM42	287015	broad.mit.edu	37	3	140407033	140407033	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:140407033C>T	ENST00000286349.3	+	3	1700	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	503						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGGGGACTCCCTGCCCTCCC	0.557000													23	36					0	0	0.012319	0	0
TRPM7	54822	broad.mit.edu	37	15	50905939	50905939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:50905939G>A	ENST00000313478.7	-	15	2016	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H579Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	579					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTAATGAAATGGTTATGCCTC	0.363000													8	7					0	0	0.003080	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648351	62648351	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:62648351G>A	ENST00000337910.5	-	6	1412	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	RHOBTB1_ENST00000357917.4_Silent_p.L359L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	359	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCGGCTTCCAGCCCCAGAGCC	0.562000													48	91					0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57221585G>A	ENST00000343433.6	-	7	1194	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	372										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGATAGGGAAAATTCTTC	0.393000													14	21					0	0	0.001855	0	0
DGKD	8527	broad.mit.edu	37	2	234357995	234357995	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:234357995C>T	ENST00000264057.2	+	15	1873	c.1861C>T	c.(1861-1863)Cgt>Tgt	p.R621C	DGKD_ENST00000409813.3_Missense_Mutation_p.R577C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	621					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAAAGCAATTCGTCAGATCAT	0.582000											OREG0015296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	12					0	0	0.001855	0	0
ZNF821	55565	broad.mit.edu	37	16	71898924	71898924	+	Missense_Mutation	SNP	G	G	C	rs139528518	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71898924G>C	ENST00000425432.1	-	5	573	c.194C>G	c.(193-195)aCg>aGg	p.T65R	ZNF821_ENST00000564134.1_Missense_Mutation_p.T65R|ZNF821_ENST00000446827.2_Missense_Mutation_p.T23R|RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.T23R|ZNF821_ENST00000565601.1_Missense_Mutation_p.T65R|ZNF821_ENST00000564943.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T23M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ATCTTGTGTCGTCTCCTCTTC	0.473000													54	87					0	0	0.003610	0	0
C6orf25	80739	broad.mit.edu	37	6	31691441	31691441	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31691441C>T	ENST00000375809.3	+	2	98	c.87C>T	c.(85-87)gaC>gaT	p.D29D	C6orf25_ENST00000480039.1_Silent_p.D29D|C6orf25_ENST00000375810.4_Silent_p.D29D|C6orf25_ENST00000375805.2_Silent_p.D29D	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	29						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCCCTGGGGACCGGGTGAATC	0.657000													63	96					0	0	0.003610	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004342	65004342	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:65004342C>T	ENST00000525437.1	+	0	1592							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGAGACCATCGCAGCCATGG	0.642000													66	20					0	0	0.003610	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017762	17017762	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:17017762C>T	ENST00000443236.1	-	30	4199	c.4168_splice	c.e30+1	p.D1390_splice		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1343						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGACACCTACCTCGCATGATG	0.602000													4	11					0	0	0.009096	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745327	23745327	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23745327G>A	ENST00000357460.5	-	2	1274	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	HOMEZ_ENST00000561013.1_Silent_p.I372I|HOMEZ_ENST00000431326.2_Silent_p.I372I	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	370						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATTTAAGGATAGCCAGCT	0.483000													22	41					0	0	0.003330	0	0
TUBG2	27175	broad.mit.edu	37	17	40811916	40811916	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40811916G>A	ENST00000251412.7	+	2	313	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	38					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCATCGTGGAGGAATTCGCCA	0.667000													32	49					0	0	0.006999	0	0
DYSF	8291	broad.mit.edu	37	2	71838413	71838413	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:71838413G>A	ENST00000258104.3	+	37	4219	c.3942G>A	c.(3940-3942)agG>agA	p.R1314R	DYSF_ENST00000410041.1_Silent_p.R1332R|DYSF_ENST00000410020.3_Silent_p.R1332R|DYSF_ENST00000413539.2_Silent_p.R1345R|DYSF_ENST00000409744.1_Silent_p.R1301R|DYSF_ENST00000409762.1_Silent_p.R1331R|DYSF_ENST00000409582.3_Silent_p.R1331R|DYSF_ENST00000394120.2_Silent_p.R1315R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.R1314R|DYSF_ENST00000409366.1_Silent_p.R1315R|DYSF_ENST00000409651.1_Silent_p.R1346R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1314						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCCCAGAGGGAGGCCAACA	0.597000													8	13					0	0	0.008291	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231754	142231754	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:142231754G>A	ENST00000390364.3	-	0	230																											AGGTCTTGTCGATACCAGAAC	0.488000													103	172					0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603041	138603041	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138603041G>A	ENST00000440172.1	-	2	1379	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S444L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S394L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	444						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCATCCCCTGATCCCACGTC	0.537000			O	BRAF	pilocytic astrocytoma								53	102					0	0	0.003610	0	0
FAM161A	84140	broad.mit.edu	37	2	62069262	62069262	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:62069262A>G	ENST00000404929.1	-	2	428	c.417T>C	c.(415-417)tcT>tcC	p.S139S	FAM161A_ENST00000405894.3_Silent_p.S139S	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	139					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTACCTGGAAGAGTCACTAA	0.313000													28	57					0	0	0.003271	0	0
SALL1	6299	broad.mit.edu	37	16	51175240	51175240	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51175240C>T	ENST00000440970.1	-	2	1033	c.602G>A	c.(601-603)gGa>gAa	p.G201E	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G298E|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	298					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTGCCAATCCAGCTGCTGC	0.517000													38	71					0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9066038	9066038	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9066038C>T	ENST00000397910.4	-	3	21611	c.21408G>A	c.(21406-21408)acG>acA	p.T7136T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7138	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						TGTCTGTGGTCGTTACCGGGC	0.517000													32	78					0	0	0.003271	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804515	21804515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:21804515G>A	ENST00000449193.2	-	4	4489	c.2237C>T	c.(2236-2238)cCt>cTt	p.P746L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P667L	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		ATTTAAGGAAGGAGTTTCTTT	0.448000													81	130					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104895	+	Missense_Mutation	SNP	C	C	T	rs145482728		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:183104895C>T	ENST00000435564.1	-	3	540	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	PDE1A_ENST00000351439.5_Missense_Mutation_p.E98K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E114K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000409365.1_Missense_Mutation_p.E98K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E80K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E114K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E10K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E114K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E114K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTC	0.418000													37	60					0	0	0.004878	0	0
MROH2B	133558	broad.mit.edu	37	5	40998216	40998216	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:40998216C>T	ENST00000399564.4	-	42	5146	c.4696G>A	c.(4696-4698)Gca>Aca	p.A1566T	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1121T	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCCTCAGCTGCTCTCTGGACA	0.463000													54	117					0	0	0.003610	0	0
GPR123	84435	broad.mit.edu	37	10	134942560	134942560	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134942560G>A	ENST00000607359.1	+	16	3385	c.3385G>A	c.(3385-3387)Gac>Aac	p.D1129N	GPR123_ENST00000392607.3_Missense_Mutation_p.D410N|GPR123_ENST00000392606.2_Missense_Mutation_p.D313N			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	410						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTTCGGGCACGACCCCCACCT	0.682000													3	6					0	0	0.009096	0	0
SH3TC1	54436	broad.mit.edu	37	4	8237240	8237240	+	Silent	SNP	C	C	T	rs146468350		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:8237240C>T	ENST00000539824.1	+	15	3509	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	SH3TC1_ENST00000245105.3_Silent_p.F1121F			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1121							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACATCTTCTTCGACGGGGCCT	0.642000													43	77					0	0	0.013114	0	0
CST4	1472	broad.mit.edu	37	20	23669472	23669472	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:23669472C>T	ENST00000217423.3	-	1	205	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGGGCACGCTGTACCCACT	0.587000													23	50					0	0	0.002780	0	0
POU2F2	5452	broad.mit.edu	37	19	42600283	42600283	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:42600283T>C	ENST00000389341.5	-	8	632	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	POU2F2_ENST00000560558.1_Missense_Mutation_p.Q150R|POU2F2_ENST00000526816.2_Missense_Mutation_p.Q205R|POU2F2_ENST00000560398.1_Missense_Mutation_p.Q211R|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q189R|POU2F2_ENST00000529952.1_Missense_Mutation_p.Q205R|POU2F2_ENST00000533720.1_Missense_Mutation_p.Q189R|POU2F2_ENST00000342301.4_Missense_Mutation_p.Q205R	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	205					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGGGCGAATTGCTCCAGCTC	0.677000													10	13					0	0	0.008291	0	0
PKP1	5317	broad.mit.edu	37	1	201263089	201263089	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:201263089G>A	ENST00000263946.3	+	2	473	c.222G>A	c.(220-222)ttG>ttA	p.L74L	PKP1_ENST00000352845.3_Silent_p.L74L|PKP1_ENST00000367324.3_Silent_p.L74L	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	74					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ATGATGGCTTGGCTGACAATT	0.522000													8	19					0	0	0.008291	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744897	87744897	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:87744897G>A	ENST00000273905.6	-	6	1225	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	360						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAATCCATTGGCCCTGGTGGC	0.547000													19	26					0	0	0.007413	0	0
C3	718	broad.mit.edu	37	19	6702583	6702583	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6702583C>T	ENST00000245907.6	-	18	2345	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	751					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGTCCTCATCCAGGTTACCTG	0.517000													35	48					0	0	0.006999	0	0
TACC2	10579	broad.mit.edu	37	10	123843781	123843781	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:123843781G>A	ENST00000369005.1	+	4	2106	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G589E|TACC2_ENST00000515603.1_Missense_Mutation_p.G589E|TACC2_ENST00000515273.1_Missense_Mutation_p.G589E|TACC2_ENST00000453444.2_Missense_Mutation_p.G589E|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	589						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTGATGGTGGAGACCCAGGG	0.547000													13	37					0	0	0.002450	0	0
RTN4	57142	broad.mit.edu	37	2	55254463	55254463	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:55254463C>T	ENST00000337526.6	-	3	1015	c.772G>A	c.(772-774)Gta>Ata	p.V258I	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.V52I|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.V52I|RTN4_ENST00000405240.1_Missense_Mutation_p.V52I|RTN4_ENST00000394611.2_Missense_Mutation_p.V52I|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	258					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTGGGTAATACTGTTGACAAA	0.413000													29	38					0	0	0.008361	0	0
CNN3	1266	broad.mit.edu	37	1	95367748	95367748	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:95367748C>T	ENST00000370206.4	-	4	696	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CNN3_ENST00000538964.1_Missense_Mutation_p.E105K|CNN3_ENST00000545882.1_Missense_Mutation_p.E64K|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	105	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TCATTTGCTTCGAATATGTCA	0.383000													23	38					0	0	0.002299	0	0
ATP13A1	57130	broad.mit.edu	37	19	19767485	19767485	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19767485G>C	ENST00000357324.6	-	7	1093	c.1067C>G	c.(1066-1068)tCc>tGc	p.S356C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S238C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	356					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGTGGCACGGACTCCCCCGT	0.647000													6	16					0	0	0.001984	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621898	99621898	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:99621898C>T	ENST00000324306.6	+	3	782	c.548C>T	c.(547-549)tCg>tTg	p.S183L	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S147L	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	183					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCAAACATTCGTCTCGGAAA	0.532000													36	43					0	0	0.005524	0	0
PCLO	27445	broad.mit.edu	37	7	82585057	82585057	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82585057C>T	ENST00000423517.2	-	5	5549	c.5212G>A	c.(5212-5214)Gat>Aat	p.D1738N	PCLO_ENST00000333891.8_Missense_Mutation_p.D1738N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1669					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTCCTCATCAAGTGATGAT	0.502000													105	145					0	0	0.003610	0	0
ZNF711	7552	broad.mit.edu	37	X	84525729	84525729	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:84525729C>T	ENST00000360700.4	+	10	2205	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ZNF711_ENST00000542798.1_Missense_Mutation_p.S236F|ZNF711_ENST00000373165.3_Missense_Mutation_p.S394F|ZNF711_ENST00000395402.1_Missense_Mutation_p.S402F|ZNF711_ENST00000276123.3_Missense_Mutation_p.S394F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	394					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGTTTAAATCCAGGGGATTC	0.353000													11	2					0	0	0.001855	0	0
DSG3	1830	broad.mit.edu	37	18	29055630	29055630	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:29055630G>A	ENST00000257189.4	+	16	2490	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	803					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGTGCGGAGGAAGACGATGG	0.423000													27	42					0	0	0.005443	0	0
DUSP1	1843	broad.mit.edu	37	5	172195795	172195795	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:172195795C>T	ENST00000239223.3	-	4	1316	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	358	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TAATGGGGCTCTGAAGGTAGC	0.582000													24	58					0	0	0.003330	0	0
UTRN	7402	broad.mit.edu	37	6	144820410	144820410	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:144820410G>A	ENST00000367545.3	+	33	4611	c.4611G>A	c.(4609-4611)caG>caA	p.Q1537Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1537	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGGAAAACAGGATCTGGAAA	0.438000													22	13					0	0	0.004656	0	0
STAG2	10735	broad.mit.edu	37	X	123227933	123227933	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:123227933C>T	ENST00000371160.1	+	32	3823	c.3533C>T	c.(3532-3534)tCa>tTa	p.S1178L	STAG2_ENST00000218089.9_Missense_Mutation_p.S1215L|STAG2_ENST00000354548.5_Missense_Mutation_p.S1109L|STAG2_ENST00000371157.3_Missense_Mutation_p.S1178L|STAG2_ENST00000371145.3_Missense_Mutation_p.S1215L|STAG2_ENST00000371144.3_Missense_Mutation_p.S1178L|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1178					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGATGTCCTCAGAAGGGAGG	0.373000													111	11					0	0	0.003610	0	0
NDUFS4	4724	broad.mit.edu	37	5	52978999	52978999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:52978999C>T	ENST00000296684.5	+	5	504	c.476C>T	c.(475-477)tCt>tTt	p.S159F		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	159					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	AAGTCCAAGTCTTATGGTGCA	0.393000													47	82					0	0	0.003610	0	0
RTP2	344892	broad.mit.edu	37	3	187416463	187416463	+	Silent	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:187416463G>C	ENST00000358241.1	-	2	929	c.501C>G	c.(499-501)ccC>ccG	p.P167P		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	167					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTTCTCGCTGGGCTTCCAGT	0.647000													13	23					0	0	0.001855	0	0
MAP3K15	389840	broad.mit.edu	37	X	19416366	19416366	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:19416366C>T	ENST00000338883.4	-	15	2043	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	MAP3K15_ENST00000469203.2_Missense_Mutation_p.E514K|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E117K|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	682	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCCGGGATTTCTTTGATGGCT	0.547000													191	40					0	0	0.003610	0	0
TGM4	7047	broad.mit.edu	37	3	44943397	44943397	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44943397C>T	ENST00000296125.4	+	8	1013	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	315					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCGAGAAAATCACCAGTATGA	0.498000													13	28					0	0	0.001855	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139115	178139115	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:178139115G>A	ENST00000335815.2	-	5	1961	c.1764C>T	c.(1762-1764)aaC>aaT	p.N588N		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	588					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGACCTATGGTTGAAAAGTT	0.363000													19	36					0	0	0.006122	0	0
TEX14	56155	broad.mit.edu	37	17	56665017	56665017	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56665017C>T	ENST00000389934.3	-	17	2830	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	TEX14_ENST00000240361.8_Missense_Mutation_p.E911K|TEX14_ENST00000349033.5_Missense_Mutation_p.E905K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	911						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAACAGGTTCCACACTCATC	0.413000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	62					0	0	0.012319	0	0
EYA3	2140	broad.mit.edu	37	1	28301011	28301011	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:28301011G>A	ENST00000373871.3	-	18	1928	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	EYA3_ENST00000436342.2_Missense_Mutation_p.S437F|EYA3_ENST00000373864.1_Missense_Mutation_p.S406F|EYA3_ENST00000545175.1_Missense_Mutation_p.S510F|EYA3_ENST00000540618.1_Missense_Mutation_p.S517F			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	563					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTGAAGGGATACTAGGTC	0.468000													23	55					0	0	0.005443	0	0
ZNF195	7748	broad.mit.edu	37	11	3381777	3381777	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:3381777G>A	ENST00000354599.6	-	4	349	c.245C>T	c.(244-246)aCc>aTc	p.T82I	ZNF195_ENST00000005082.9_Missense_Mutation_p.T131I|ZNF195_ENST00000343338.7_Missense_Mutation_p.T86I|ZNF195_ENST00000429541.2_Missense_Mutation_p.T86I|ZNF195_ENST00000399602.4_Missense_Mutation_p.T154I|ZNF195_ENST00000526601.1_Missense_Mutation_p.T135I|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	154	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGTCTTGGGTAAAATGAGA	0.328000													25	9					0	0	0.003330	0	0
NRG2	9542	broad.mit.edu	37	5	139422085	139422085	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:139422085C>T	ENST00000541337.1	-	1	799	c.570G>A	c.(568-570)agG>agA	p.R190R	NRG2_ENST00000545385.1_Silent_p.R190R|NRG2_ENST00000394770.1_Silent_p.R190R|NRG2_ENST00000361474.1_Silent_p.R190R|NRG2_ENST00000289409.4_Silent_p.R190R|NRG2_ENST00000289422.7_Silent_p.R190R|NRG2_ENST00000358522.3_Silent_p.R190R	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	190					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCTGGTTCCTTTCGAGCG	0.597000													13	24					0	0	0.001368	0	0
CCNT2	905	broad.mit.edu	37	2	135711938	135711938	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:135711938C>T	ENST00000264157.5	+	9	1943	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F	CCNT2_ENST00000295238.6_Missense_Mutation_p.S638F|CCNT2_ENST00000537343.1_Missense_Mutation_p.S463F	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	638	Poly-Ser.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGCAAAAGTTCCAAAAGTTCA	0.458000													36	66					0	0	0.006230	0	0
RASA2	5922	broad.mit.edu	37	3	141291471	141291471	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:141291471G>A	ENST00000286364.3	+	12	1225	c.1190G>A	c.(1189-1191)aGa>aAa	p.R397K	RASA2_ENST00000452898.1_Missense_Mutation_p.R397K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	397	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAATTTTTAGAGGAAATTCC	0.348000													15	29					0	0	0.004990	0	0
SVOPL	136306	broad.mit.edu	37	7	138305795	138305795	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138305795G>A	ENST00000421622.1	-	10	1197	c.989C>T	c.(988-990)tCc>tTc	p.S330F	SVOPL_ENST00000288513.5_Missense_Mutation_p.S298F|SVOPL_ENST00000436657.1_Missense_Mutation_p.S298F|SVOPL_ENST00000419765.3_Missense_Mutation_p.S450F|SVOPL_ENST00000463557.1_Intron			Q8N434	SVOPL_HUMAN	SVOP-like	450						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTGTACCTGGGATATAAATGG	0.572000													12	38					0	0	0.006122	0	0
TTC21B	79809	broad.mit.edu	37	2	166786258	166786258	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166786258C>T	ENST00000243344.7	-	10	1225		c.e10-1			NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGGATAAATCCTAAAATCAAA	0.388000													17	27					0	0	0.004990	0	0
MPDZ	8777	broad.mit.edu	37	9	13193234	13193234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:13193234G>A	ENST00000319217.7	-	14	1982	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	MPDZ_ENST00000546205.1_Nonsense_Mutation_p.R579*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.R579*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.R579*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.R579*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.R579*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.R579*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	579	PDZ 4.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGAACAGATCGGATAAAATGA	0.468000													24	15					0	0	0.004656	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219743	4219743	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:4219743G>A	ENST00000600132.1	+	19	3435	c.3159G>A	c.(3157-3159)gaG>gaA	p.E1053E	ANKRD24_ENST00000318934.4_Silent_p.E1053E|ANKRD24_ENST00000262970.5_Silent_p.E1143E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1053										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGGCCAAGGAGAAGGACAAGA	0.647000													15	27					0	0	0.004007	0	0
CMYA5	202333	broad.mit.edu	37	5	79048514	79048514	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:79048514G>A	ENST00000446378.2	+	6	11038	c.11007G>A	c.(11005-11007)atG>atA	p.M3669I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3669	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTCTGCAATGGAGAGCACTG	0.378000													25	28					0	0	0.005443	0	0
SALL2	6297	broad.mit.edu	37	14	21993392	21993392	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21993392G>A	ENST00000327430.3	-	2	764	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	157							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGTGCAGGGGTCGATTCTGG	0.647000													26	26					0	0	0.003954	0	0
STRN	6801	broad.mit.edu	37	2	37152297	37152297	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:37152297C>T	ENST00000263918.4	-	2	297	c.289G>A	c.(289-291)Gat>Aat	p.D97N	STRN_ENST00000379213.2_Missense_Mutation_p.D85N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	97					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTCACAAGATCCTTCTTCAAA	0.373000													5	115					0	0	0.001984	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54971213	54971213	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:54971213G>A	ENST00000547431.1	-	6	448	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000550620.1_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TCCAGTGGATGCGACATTCTC	0.557000													11	233					0	0	0.010729	0	0
IL2RA	3559	broad.mit.edu	37	10	6066298	6066298	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:6066298T>C	ENST00000379959.3	-	3	449	c.276A>G	c.(274-276)aaA>aaG	p.K92K	IL2RA_ENST00000256876.6_Silent_p.K92K|IL2RA_ENST00000379954.1_Silent_p.K92K	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	92					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTGTCACTTGTTTCGTTGTGT	0.413000													15	30					0	0	0.002450	0	0
CCNJ	54619	broad.mit.edu	37	10	97816742	97816742	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:97816742G>A	ENST00000265992.5	+	4	932	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E189K|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E189K|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.E189K|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	189						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTACTTCCTGGAAGTATCTTT	0.423000													23	49					0	0	0.012319	0	0
CFHR2	3080	broad.mit.edu	37	1	196919996	196919996	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196919996C>T	ENST00000367415.4	+	3	382	c.268C>T	c.(268-270)Cct>Tct	p.P90S	CFHR2_ENST00000367421.3_Missense_Mutation_p.P90S|CFHR2_ENST00000476712.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	90	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTGTTTCTTTCCTTTTGTGGA	0.323000													32	48					0	0	0.003271	0	0
OR52I2	143502	broad.mit.edu	37	11	4608286	4608286	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:4608286G>A	ENST00000312614.4	+	1	266	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATCTGGATGGATTCCACTCG	0.493000													139	53					0	0	0.003610	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966225	41966225	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:41966225C>T	ENST00000298919.7	+	10	1252	c.864C>T	c.(862-864)aaC>aaT	p.N288N	PDZRN4_ENST00000539469.2_Silent_p.N290N|PDZRN4_ENST00000402685.2_Silent_p.N548N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	548	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CATCCAACAACCATGAGAAGG	0.423000													9	15					0	0	0.006214	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868209	20868209	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:20868209T>C	ENST00000381552.1	+	6	1034	c.666T>C	c.(664-666)gcT>gcC	p.A222A	SLCO1C1_ENST00000545604.1_Silent_p.A222A|SLCO1C1_ENST00000266509.2_Silent_p.A222A|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.A104A			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	222					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ACAATGCAGCTTTCTATATTG	0.423000													18	42					0	0	0.006122	0	0
UQCRC1	7384	broad.mit.edu	37	3	48642089	48642089	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48642089G>A	ENST00000203407.5	-	4	838	c.422C>T	c.(421-423)cCg>cTg	p.P141L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	141					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GTTACCTTTCGGCAGATCCTT	0.577000													19	20					0	0	0.010504	0	0
EXOC3	11336	broad.mit.edu	37	5	454110	454110	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:454110C>T	ENST00000512944.1	+	4	1179	c.990C>T	c.(988-990)gaC>gaT	p.D330D	EXOC3_ENST00000315013.5_Silent_p.D330D	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	341					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CATCGGAAGACCTGGAAGCCA	0.527000													9	9					0	0	0.008291	0	0
PDPK1	5170	broad.mit.edu	37	16	2647218	2647218	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2647218C>T	ENST00000342085.4	+	13	1645	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Missense_Mutation_p.P472L|PDPK1_ENST00000354836.5_Missense_Mutation_p.P475L|PDPK1_ENST00000268673.7_Missense_Mutation_p.P372L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	499	PH.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GGTGAAATTCCTTGGTCACAA	0.443000													49	52					0	0	0.003610	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065005	62065005	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:62065005C>T	ENST00000358585.1	-	2	234	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	61						extracellular region	binding			lung(1)|prostate(1)	2						TGCTTCACTTCCAACTTGGCT	0.423000													189	50					0	0	0.003610	0	0
PTPN9	5780	broad.mit.edu	37	15	75816585	75816585	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75816585G>A	ENST00000306726.2	-	3	774	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	88	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTCAGAACGAAGAGGTTCC	0.388000													16	44					0	0	0.010504	0	0
DMP1	1758	broad.mit.edu	37	4	88583737	88583737	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:88583737G>A	ENST00000339673.6	+	6	906	c.807G>A	c.(805-807)agG>agA	p.R269R	DMP1_ENST00000282479.7_Silent_p.R253R|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	269					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AAATTTTTAGGAAGTCTCGCA	0.438000													17	16					0	0	0.006122	0	0
COL20A1	57642	broad.mit.edu	37	20	61929325	61929325	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:61929325C>T	ENST00000422202.1	+	2	214	c.146C>T	c.(145-147)tCg>tTg	p.S49L	COL20A1_ENST00000358894.6_Missense_Mutation_p.S49L|COL20A1_ENST00000326996.6_Missense_Mutation_p.S49L|COL20A1_ENST00000435874.1_Missense_Mutation_p.S49L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	49	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGAGAGAGTCGGAGGGGAGC	0.637000													16	35					0	0	0.012319	0	0
NLRP5	126206	broad.mit.edu	37	19	56520162	56520162	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56520162C>T	ENST00000390649.3	+	3	451	c.451C>T	c.(451-453)Cca>Tca	p.P151S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	151						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGGACATTCACCAGAAGATCC	0.463000													10	10					0	0	0.010729	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	199					0	0	0.009096	0	0
MAGIX	79917	broad.mit.edu	37	X	49021314	49021314	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:49021314T>C	ENST00000376338.3	+	2	295	c.216T>C	c.(214-216)ggT>ggC	p.G72G	MAGIX_ENST00000376339.1_Silent_p.G72G|MAGIX_ENST00000412696.2_Silent_p.G131G|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Intron			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	131																	TGGTTCGCGGTTACGCAGGCT	0.617000													100	12					0	0	0.003610	0	0
CCBE1	147372	broad.mit.edu	37	18	57136739	57136739	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:57136739C>T	ENST00000439986.4	-	4	403	c.366G>A	c.(364-366)gaG>gaA	p.E122E	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	122					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCCGGTGTCTCTCCCGGTCAT	0.527000													55	96					0	0	0.003610	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307174	120307174	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:120307174C>T	ENST00000369406.3	-	2	229	c.180G>A	c.(178-180)gaG>gaA	p.E60E	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.E60E	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	60					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGAAGTAGACCTCCAGGGCCA	0.517000													134	263					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41172438	41172438	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41172438C>T	ENST00000263413.3	-	9	1444	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.E394K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	394	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGGCTTCTTCCTCGGTTAAA	0.423000													15	27					0	0	0.004990	0	0
EBF3	253738	broad.mit.edu	37	10	131755553	131755553	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:131755553C>T	ENST00000368648.3	-	6	595	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	EBF3_ENST00000355311.5_Missense_Mutation_p.E175K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	175					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAGGGCGTTTCGTTTCTATTG	0.418000													28	50					0	0	0.002836	0	0
TCOF1	6949	broad.mit.edu	37	5	149755307	149755307	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149755307C>T	ENST00000451292.1	+	12	1836	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	TCOF1_ENST00000394269.3_Silent_p.L576L|TCOF1_ENST00000377797.3_Silent_p.L576L|TCOF1_ENST00000439160.2_Silent_p.L576L|TCOF1_ENST00000513346.1_Silent_p.L576L|TCOF1_ENST00000323668.7_Silent_p.L499L|TCOF1_ENST00000504761.2_Silent_p.L576L|TCOF1_ENST00000445265.2_Silent_p.L499L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	576					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAACATCCTCCAGGCCAAAC	0.562000													58	98					0	0	0.003610	0	0
GPR142	350383	broad.mit.edu	37	17	72363866	72363866	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72363866G>A	ENST00000335666.4	+	1	270	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	74						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCCATCCAAGGACTCCAGCA	0.567000													24	21					0	0	0.003954	0	0
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76455098G>T	ENST00000389840.5	-	61	9928	c.9804C>A	c.(9802-9804)atC>atA	p.I3268I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.I3277I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582000													23	72					7.87624e-14	8.692e-14	0.002780	1	0
TULP3	7289	broad.mit.edu	37	12	3018744	3018744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:3018744C>T	ENST00000448120.2	+	2	142	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q31*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	31					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGGATTATCAGGTGAGCAG	0.403000													37	81					0	0	0.006230	0	0
AGTR1	185	broad.mit.edu	37	3	148459575	148459575	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:148459575T>A	ENST00000542281.1	+	4	1199	c.753T>A	c.(751-753)ttT>ttA	p.F251L	AGTR1_ENST00000474935.1_Missense_Mutation_p.F251L|AGTR1_ENST00000475347.1_Missense_Mutation_p.F251L|AGTR1_ENST00000349243.3_Missense_Mutation_p.F251L|AGTR1_ENST00000461609.1_Missense_Mutation_p.F251L|AGTR1_ENST00000497524.1_Missense_Mutation_p.F251L|AGTR1_ENST00000418473.2_Missense_Mutation_p.F251L|AGTR1_ENST00000402260.1_Missense_Mutation_p.F251L|AGTR1_ENST00000404754.2_Missense_Mutation_p.F251L	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	251					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTTTTTCTTTTCCTGGATTC	0.363000													25	33					0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141260595	141260595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:141260595C>T	ENST00000389484.3	-	54	9570	c.8599G>A	c.(8599-8601)Gga>Aga	p.G2867R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2867	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAGTCTCCATCACACTGC	0.398000										TSP Lung(27;0.18)			15	40					0	0	0.002450	0	0
ARID5B	84159	broad.mit.edu	37	10	63819004	63819004	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:63819004A>T	ENST00000279873.7	+	7	1461	c.1051A>T	c.(1051-1053)Aac>Tac	p.N351Y	ARID5B_ENST00000309334.5_Missense_Mutation_p.N108Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	351	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCTAACAGTTAACCTTTGGAC	0.299000													17	28					0	0	0.007413	0	0
CELSR3	1951	broad.mit.edu	37	3	48679376	48679376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48679376G>A	ENST00000544264.1	-	33	9027	c.8747C>T	c.(8746-8748)tCa>tTa	p.S2916L	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2911L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2911					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGCTTTCTGAAGATGGAAT	0.602000													9	20					0	0	0.008291	0	0
MYOM3	127294	broad.mit.edu	37	1	24402693	24402693	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24402693T>C	ENST00000330966.7	-	21	2822	c.2660A>G	c.(2659-2661)cAa>cGa	p.Q887R	MYOM3_ENST00000329601.7_Missense_Mutation_p.Q886R|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.Q886R			Q5VTT5	MYOM3_HUMAN	myomesin 3	886	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATGGACGGTTGCCCCAGACC	0.627000													28	58					0	0	0.002836	0	0
CENPE	1062	broad.mit.edu	37	4	104063017	104063017	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:104063017C>T	ENST00000265148.3	-	35	5442	c.5353G>A	c.(5353-5355)Gag>Aag	p.E1785K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1760K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1785					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTGCTGCTCTTTCAGATGC	0.294000													22	31					0	0	0.003330	0	0
SUPT6H	6830	broad.mit.edu	37	17	27023944	27023944	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27023944C>T	ENST00000314616.6	+	30	4336	c.4053C>T	c.(4051-4053)gaC>gaT	p.D1351D	SUPT6H_ENST00000347486.4_Silent_p.D1351D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1351	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGACCATGGACCAGGGTGATG	0.488000													22	53					0	0	0.012319	0	0
MPRIP	23164	broad.mit.edu	37	17	17062245	17062245	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:17062245G>A	ENST00000395811.5	+	14	2064	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	MPRIP_ENST00000395804.3_Missense_Mutation_p.V659I|MPRIP_ENST00000341712.4_Missense_Mutation_p.V659I|MPRIP_ENST00000444976.1_Missense_Mutation_p.V621I	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	659	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CATCGCCCCCGTCCACCTGTC	0.602000													9	18					0	0	0.006214	0	0
HSPA12B	116835	broad.mit.edu	37	20	3721513	3721513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:3721513C>T	ENST00000254963.2	+	3	240	c.95C>T	c.(94-96)aCc>aTc	p.T32I	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	32							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCCCCGAGGACCCAGGAAAGC	0.657000													9	28					0	0	0.008291	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552728	173552728	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:173552728C>T	ENST00000367714.3	-	6	979	c.557G>A	c.(556-558)gGa>gAa	p.G186E	SLC9C2_ENST00000536496.1_Missense_Mutation_p.G84E|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	186					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAATGATTCTCCTCTAATGAG	0.318000													59	46					0	0	0.003610	0	0
AKT1	207	broad.mit.edu	37	14	105241449	105241449	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:105241449G>A	ENST00000554581.1	-	5	2011	c.531C>T	c.(529-531)gcC>gcT	p.A177A	AKT1_ENST00000554848.1_Silent_p.A177A|AKT1_ENST00000544168.1_Silent_p.A115A|AKT1_ENST00000407796.2_Silent_p.A177A|AKT1_ENST00000402615.2_Silent_p.A177A|AKT1_ENST00000349310.3_Silent_p.A177A|AKT1_ENST00000555528.1_Silent_p.A177A			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	177	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GGATCTTCATGGCGTAGTAGC	0.612000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								25	66					0	0	0.003954	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210483	30210483	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:30210483G>A	ENST00000518096.1	+	0	1095																											TCCGTGGTCGGATGTCCATGA	0.547000													39	12					0	0	0.007835	0	0
SNRPE	6635	broad.mit.edu	37	1	203832801	203832801	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:203832801T>C	ENST00000414487.2	+	3	137	c.92T>C	c.(91-93)aTt>aCt	p.I31T	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	31					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGATCGCGGATTCAGGTGTGG	0.458000													122	82					0	0	0.003610	0	0
TMEM54	113452	broad.mit.edu	37	1	33366825	33366825	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:33366825G>A	ENST00000373463.3	-	1	134	c.16_splice	c.e1+1	p.L5_splice	TMEM54_ENST00000329151.5_Splice_Site_p.L5_splice|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	5						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCGCTCACCGAGGCGCAGAC	0.776000													4	8					0	0	0.001168	0	0
SLC6A13	6540	broad.mit.edu	37	12	333250	333250	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:333250G>A	ENST00000343164.4	-	11	1271	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P315S|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	407					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AACACGTGAGGGTACATGTCC	0.562000													16	32					0	0	0.004990	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105484080	105484080	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:105484080C>T	ENST00000369774.4	-	5	622	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.E116K			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	116	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGAAGACTTCGTCACACTGT	0.552000													17	19					0	0	0.006122	0	0
ZNF341	84905	broad.mit.edu	37	20	32345035	32345035	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:32345035G>A	ENST00000375200.1	+	6	1188	c.823G>A	c.(823-825)Gga>Aga	p.G275R	ZNF341_ENST00000342427.2_Missense_Mutation_p.G275R			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CAAACCCAAAGGACCAAACCC	0.607000													66	114					0	0	0.003610	0	0
IRF3	3661	broad.mit.edu	37	19	50165506	50165506	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:50165506C>T	ENST00000597198.1	-	6	1062	c.681G>A	c.(679-681)cgG>cgA	p.R227R	IRF3_ENST00000598808.1_Silent_p.R81R|IRF3_ENST00000600911.1_Silent_p.R227R|IRF3_ENST00000601291.1_Silent_p.R227R|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000593922.1_Silent_p.R81R|IRF3_ENST00000599144.1_Silent_p.R81R|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Silent_p.R227R|IRF3_ENST00000377139.3_Silent_p.R227R			Q14653	IRF3_HUMAN	interferon regulatory factor 3	227	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ACCCCACCAGCCGCAGGCCCT	0.657000													23	27					0	0	0.003954	0	0
SCN10A	6336	broad.mit.edu	37	3	38793931	38793931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38793931G>A	ENST00000449082.2	-	11	1533	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGATATCTCGGCCAGGGGAC	0.587000													16	22					0	0	0.006122	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048691	107048691	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:107048691G>A	ENST00000390627.2	-	0	549																											GTAATACACGGCCGTGTCCTC	0.562000													85	108					0	0	0.003610	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270310	16270310	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:16270310G>A	ENST00000375733.2	-	10	1690	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	ZBTB17_ENST00000537142.1_Silent_p.T402T|ZBTB17_ENST00000375743.4_Silent_p.T484T			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	484					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGAGGTGGTGAACTGCT	0.677000													6	13					0	0	0.001168	0	0
OPRL1	4987	broad.mit.edu	37	20	62724125	62724125	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:62724125C>T	ENST00000349451.3	+	4	464	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	OPRL1_ENST00000355631.4_Missense_Mutation_p.L18F|OPRL1_ENST00000336866.2_Missense_Mutation_p.L18F	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	18					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CGGCAGCCACCTTCAGGGCAA	0.647000													28	55					0	0	0.003755	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537114	5537114	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:5537114G>A	ENST00000380184.1	-	1	821	c.558C>T	c.(556-558)tcC>tcT	p.S186S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACTCCATGTTGGACAGAAGCC	0.483000													83	35					0	0	0.003610	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891755	2891755	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:2891755G>A	ENST00000254528.3	+	4	1789	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	544					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCACCTGAAGGACAAAGTTCA	0.542000													29	53					0	0	0.008361	0	0
GPD1L	23171	broad.mit.edu	37	3	32200531	32200531	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:32200531C>T	ENST00000282541.5	+	6	983	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	261					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TGCGGGGTGGCCGACCTGATC	0.622000													23	40					0	0	0.007291	0	0
DUSP22	56940	broad.mit.edu	37	6	311939	311939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:311939G>A	ENST00000419235.2	+	3	193	c.115G>A	c.(115-117)Gat>Aat	p.D39N	DUSP22_ENST00000344450.5_Missense_Mutation_p.D39N|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	39					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTCTGTCCACGATAGTGCCAG	0.493000													8	64					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9003603	9003603	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9003603C>T	ENST00000397910.4	-	49	40240	c.40037G>A	c.(40036-40038)aGg>aAg	p.R13346K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13348	SEA 9.				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						GTTGAACTTCCTGGAGCCAGG	0.557000													58	113					0	0	0.003610	0	0
RBM12	10137	broad.mit.edu	37	20	34241544	34241544	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34241544G>A	ENST00000374114.3	-	3	1964	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CPNE1_ENST00000317677.5_5'UTR|RBM12_ENST00000374104.3_Silent_p.I567I|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.I567I|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	567						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATCCACTGGGATTCCTTCTA	0.413000													53	103					0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:187698678G>A	ENST00000295131.2	-	6	862	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000													16	26					0	0	0.004990	0	0
ZNF99	7652	broad.mit.edu	37	19	22941814	22941814	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22941814G>A	ENST00000397104.3	-	5	623	c.624C>T	c.(622-624)caC>caT	p.H208H	ZNF99_ENST00000596209.1_Silent_p.H299H					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTCTAGTAAGGTGTGAGGATT	0.358000													14	25					0	0	0.003163	0	0
PDIA4	9601	broad.mit.edu	37	7	148716091	148716091	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:148716091G>A	ENST00000286091.4	-	3	700	c.468C>T	c.(466-468)acC>acT	p.T156T		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	156	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACCTTCCTGGGTTCTGGAGC	0.552000													21	36					0	0	0.002299	0	0
CLN6	54982	broad.mit.edu	37	15	68500587	68500587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:68500587C>T	ENST00000249806.5	-	7	984	c.827G>A	c.(826-828)tGg>tAg	p.W276*	CLN6_ENST00000418702.2_Nonsense_Mutation_p.W147*|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Nonsense_Mutation_p.W123*|CLN6_ENST00000538696.1_Nonsense_Mutation_p.W308*|CLN6_ENST00000566347.1_Nonsense_Mutation_p.W213*	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	276					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGGCGACCCAGAGCGCCAC	0.602000													30	66					0	0	0.002836	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025214	50025214	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50025214C>T	ENST00000261897.1	+	2	582	c.31C>T	c.(31-33)Cct>Tct	p.P11S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P39S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P17S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	17	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCACCCTTTCCTCCGATGGG	0.602000													70	89					0	0	0.003610	0	0
UNK	85451	broad.mit.edu	37	17	73780868	73780868	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73780868C>T	ENST00000293218.3	+	2	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F	UNK_ENST00000589666.1_5'UTR|H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTCACGTTCTCGTGGCGCG	0.612000													8	25					0	0	0.004482	0	0
TMEM237	65062	broad.mit.edu	37	2	202494496	202494496	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:202494496G>A	ENST00000409444.2	-	8	926	c.609C>T	c.(607-609)tcC>tcT	p.S203S	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Silent_p.S211S	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	235						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGTCCAGGAAGGCTTCA	0.423000													28	61					0	0	0.008361	0	0
MAST4	375449	broad.mit.edu	37	5	66460382	66460382	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:66460382G>A	ENST00000404260.3	+	29	5692	c.5384G>A	c.(5383-5385)gGt>gAt	p.G1795D	MAST4_ENST00000261569.7_Missense_Mutation_p.G1598D|MAST4_ENST00000403666.1_Missense_Mutation_p.G1603D|MAST4_ENST00000403625.2_Missense_Mutation_p.G1792D|MAST4_ENST00000405643.1_Missense_Mutation_p.G1613D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1795						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)		AAGCTGGAAGGTAGGTCTGTC	0.582000													40	58					0	0	0.006230	0	0
SACS	26278	broad.mit.edu	37	13	23912516	23912516	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:23912516G>A	ENST00000382298.3	-	10	6087	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S	SACS_ENST00000402364.1_Silent_p.S1083S|SACS_ENST00000382292.3_Silent_p.S1833S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1833					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	p.S1686S(1)|p.S1833S(1)		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)		TCTCACTCAGGGAAAACTTCA	0.478000													38	31					0	0	0.006999	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038276	16038276	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:16038276C>T	ENST00000326742.7	-	3	362	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CYP4F11_ENST00000402119.3_Missense_Mutation_p.D121N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.D121N			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	121					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAATCATATCCTTGGGTGCG	0.542000													75	137					0	0	0.003610	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016791	73016791	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:73016791C>T	ENST00000389617.4	+	6	1231	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	357					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAAGGTGTGTCTGTTCTGCAT	0.522000													13	16					0	0	0.001855	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300675	41300675	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:41300675G>A	ENST00000347132.5	+	12	1732	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.K496K	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	550	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGAAATTCAAGGAGACACTGC	0.572000													35	81					0	0	0.003271	0	0
PIH1D3	139212	broad.mit.edu	37	X	106456205	106456205	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:106456205G>A	ENST00000535523.1	+	3	437	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	PIH1D3_ENST00000372453.3_Missense_Mutation_p.A34T|PIH1D3_ENST00000336387.4_Missense_Mutation_p.A34T	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		AGCTCTGGAAGCCCTCTCTAA	0.358000													42	8					0	0	0.003610	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193724	193724	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:193724G>A	ENST00000342878.2	+	2	88	c.68G>A	c.(67-69)gGg>gAg	p.G23E	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	23						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGGCCACAGGGGAGGACAAC	0.582000													9	35					0	0	0.004482	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619830	15619830	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:15619830C>T	ENST00000464847.2	+	5	1345	c.792C>T	c.(790-792)gtC>gtT	p.V264V	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Silent_p.V254V|ZNF286A_ENST00000583566.1_Silent_p.V264V|ZNF286A_ENST00000421016.1_Silent_p.V264V|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000413242.2_Silent_p.V264V			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACCAGAGAGTCCATACTGGAG	0.373000													17	32					0	0	0.008871	0	0
CCR9	10803	broad.mit.edu	37	3	45943373	45943373	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:45943373G>A	ENST00000357632.2	+	3	1273	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.G353R|CCR9_ENST00000355983.2_Missense_Mutation_p.G353R|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	365					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GACAACCTCAGGAGCACTCTC	0.502000													14	28					0	0	0.002450	0	0
ROBO1	6091	broad.mit.edu	37	3	78796020	78796020	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:78796020G>A	ENST00000436010.2	-	3	1410	c.413C>T	c.(412-414)tCg>tTg	p.S138L	ROBO1_ENST00000464233.1_Missense_Mutation_p.S177L|ROBO1_ENST00000495273.1_Missense_Mutation_p.S138L|ROBO1_ENST00000467549.1_Missense_Mutation_p.S138L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	177	Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.S177*(2)|p.S177L(1)|p.S138*(1)|p.S154*(1)|p.S154L(1)|p.S138L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATGACATCCGAAGGGTTTTG	0.458000													15	29					0	0	0.004007	0	0
MARCO	8685	broad.mit.edu	37	2	119752064	119752064	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:119752064G>A	ENST00000541757.1	+	18	1677	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	MARCO_ENST00000327097.4_Missense_Mutation_p.E511K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	511	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGCAGCCACGAGGAGGACGC	0.597000													28	42					0	0	0.012213	0	0
SENP7	57337	broad.mit.edu	37	3	101090866	101090866	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:101090866T>C	ENST00000394095.2	-	7	835	c.782A>G	c.(781-783)gAt>gGt	p.D261G	SENP7_ENST00000394091.1_Missense_Mutation_p.D97G|SENP7_ENST00000314261.7_Missense_Mutation_p.D195G|SENP7_ENST00000358203.3_Missense_Mutation_p.D97G|SENP7_ENST00000348610.3_Missense_Mutation_p.D228G|SENP7_ENST00000394094.2_Missense_Mutation_p.D196G	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	261					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGCTGAGTATCAGATATTAA	0.289000													15	33					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179462333	179462333	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179462333C>T	ENST00000589042.1	-	294	57700	c.57476G>A	c.(57475-57477)gGc>gAc	p.G19159D	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16591D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17518D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10219D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10286D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10094D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17518	Ig-like 108.						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)			AGAATAGACGCCTTGATGGCT	0.403000													16	24					0	0	0.008871	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871822	51871822	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:51871822G>A	ENST00000371497.5	+	2	2712	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E606K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E606K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	609					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACAAAGATGAAGCGGTGAA	0.507000													28	81					0	0	0.004656	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964377	7964377	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:7964377G>A	ENST00000306708.6	+	3	1071	c.970G>A	c.(970-972)Gga>Aga	p.G324R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	324						integral to membrane		p.G324*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GTGCATCTACGGACTTACCTG	0.582000													22	27					0	0	0.012319	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162143	23162143	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:23162143G>A	ENST00000390316.2	+	0	351																											ATCCCTGAGCGATTCTCTGGC	0.582000													22	42					0	0	0.012319	0	0
CORIN	10699	broad.mit.edu	37	4	47625718	47625718	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47625718C>T	ENST00000273857.4	-	19	2409	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	CORIN_ENST00000505909.1_Missense_Mutation_p.G767R|CORIN_ENST00000508498.1_Missense_Mutation_p.G665R|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.G737R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	804	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTCCGACCTCCAAGGATCCTT	0.542000													29	45					0	0	0.009535	0	0
SNRPN	6638	broad.mit.edu	37	15	25223433	25223433	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:25223433C>T	ENST00000444203.2	+	7	1704	c.665C>T	c.(664-666)cCg>cTg	p.P222L	SNRPN_ENST00000400098.1_Missense_Mutation_p.P218L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P218L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P222L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P218L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P218L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P218L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P218L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	218	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATGCCGCCTCCGGGAATGAGA	0.567000									Prader-Willi syndrome				59	105					0	0	0.003610	0	0
ARHGAP6	395	broad.mit.edu	37	X	11160413	11160413	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:11160413C>T	ENST00000337414.4	-	12	3069	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D558N|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D530N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D530N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	733					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCAGATATCGAAAGGCTCC	0.313000													59	14					0	0	0.003610	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754080	140754080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140754080G>A	ENST00000517434.1	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATTCTCGAAAACGCAGC	0.423000													21	31					0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:13864514C>T	ENST00000265104.4	-	28	4692	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1530	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome				23	44					0	0	0.006320	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218338	130218338	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:130218338C>T	ENST00000276211.5	+	5	1050	c.705C>T	c.(703-705)atC>atT	p.I235I	ARHGAP36_ENST00000370921.1_Silent_p.I99I|ARHGAP36_ENST00000370922.1_Silent_p.I223I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	235	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CGAAACAAATCCCCCAGGTTG	0.458000													33	7					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179621235	179621235	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179621235C>T	ENST00000589042.1	-	46	11192	c.10968G>A	c.(10966-10968)acG>acA	p.T3656T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Silent_p.T3485T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3341	Ig-like 22.						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)			GCGCCTCACCCGTGGACTCTT	0.453000													21	44					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179497937	179497937	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179497937C>T	ENST00000589042.1	-	233	43287	c.43063G>A	c.(43063-43065)Gga>Aga	p.G14355R	TTN_ENST00000342992.6_Missense_Mutation_p.G11787R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G12714R|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5415R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5482R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5290R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12714							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)			AAAGGCTGTCCTTTCAGCTTC	0.438000													16	28					0	0	0.004007	0	0
PTGIS	5740	broad.mit.edu	37	20	48140776	48140776	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:48140776C>T	ENST00000244043.4	-	6	703	c.673_splice	c.e6-1	p.G225_splice	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	225					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTCCTTGTCCCCTGCAGGGAC	0.602000													24	37					0	0	0.003954	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462131	72462131	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:72462131G>A	ENST00000373208.1	+	3	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.E196K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	196					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGGCCAGCAGGAGAAGGAGGC	0.632000													31	39					0	0	0.012213	0	0
CCT6A	908	broad.mit.edu	37	7	56122096	56122096	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:56122096A>T	ENST00000275603.4	+	3	455	c.236A>T	c.(235-237)aAg>aTg	p.K79M	CCT6A_ENST00000335503.3_Intron|CCT6A_ENST00000540286.1_Missense_Mutation_p.K48M	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	79					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTAATAGCAAAGGTAGCAACA	0.383000													77	150					0	0	0.003610	0	0
CCT6P3	643180	broad.mit.edu	37	7	64525411	64525411	+	RNA	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:64525411A>T	ENST00000426828.1	+	0	241					NR_033416.1																						TTAATAGCAAAGGTAGCAACA	0.378000													6	174					0	0	0.010729	0	0
ATL3	25923	broad.mit.edu	37	11	63396854	63396854	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:63396854G>A	ENST00000398868.3	-	13	1839	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	ATL3_ENST00000538786.1_Silent_p.S503S|ATL3_ENST00000332645.4_Silent_p.S548S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	521					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGGCCTGAGTGGAATTACCGA	0.373000													18	12					0	0	0.002299	0	0
CCDC33	80125	broad.mit.edu	37	15	74588137	74588137	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74588137C>T	ENST00000321288.5	+	13	1747	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P380S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	583							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAAGGCTCTTCCTACCTTGGA	0.512000													22	53					0	0	0.003954	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:47181798G>A	ENST00000447411.1	-	4	433	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S76F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000													16	20					0	0	0.004007	0	0
MYO15A	51168	broad.mit.edu	37	17	18023051	18023051	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:18023051G>A	ENST00000205890.5	+	2	1275	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	313	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E313K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACGATTACGAACCCCCATA	0.612000													23	46					0	0	0.002780	0	0
JADE2	23338	broad.mit.edu	37	5	133909398	133909398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:133909398C>T	ENST00000395003.1	+	10	1677	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000282605.4_Nonsense_Mutation_p.Q500*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.Q500*	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		500					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCAAACTCCAGGAGCAGAT	0.522000													27	40					0	0	0.005443	0	0
ATG2A	23130	broad.mit.edu	37	11	64669618	64669618	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:64669618G>A	ENST00000421419.2	-	29	4055	c.3941C>T	c.(3940-3942)tCc>tTc	p.S1314F	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1312F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1312							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TAGGTAGACGGAGATGGGCGA	0.637000													47	15					0	0	0.013114	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050548	32050548	+	Silent	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:32050548C>G	ENST00000271064.7	+	7	844	c.768C>G	c.(766-768)ccC>ccG	p.P256P	TINAGL1_ENST00000457433.2_Silent_p.P225P|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	256					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCCTGTCGCCCCAGAACCTGC	0.632000													30	61					0	0	0.009535	0	0
HELQ	113510	broad.mit.edu	37	4	84350736	84350736	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:84350736G>A	ENST00000295488.3	-	12	2621	c.2459C>T	c.(2458-2460)tCt>tTt	p.S820F	HELQ_ENST00000510985.1_Missense_Mutation_p.S753F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	820							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTCTTCTTCAGACTTATAAAT	0.318000								Other identified genes with known or suspected DNA repair function					25	46					0	0	0.005443	0	0
OR10A6	390093	broad.mit.edu	37	11	7949784	7949784	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:7949784C>T	ENST00000309838.2	-	1	425	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAATTAATTTCATAAAAACTC	0.358000													21	6					0	0	0.012319	0	0
CPNE6	9362	broad.mit.edu	37	14	24546586	24546586	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24546586G>A	ENST00000397016.2	+	16	1834	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q	CPNE6_ENST00000216775.2_Missense_Mutation_p.R508Q|CPNE6_ENST00000537691.1_Missense_Mutation_p.R563Q			O95741	CPNE6_HUMAN	copine VI (neuronal)	508	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTGCCCTTCCGAGACTTCAAG	0.617000													25	44					0	0	0.006320	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589311	140589311	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140589311T>A	ENST00000239450.2	+	1	1021	c.832T>A	c.(832-834)Tcc>Acc	p.S278T	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		278	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGAACTATCCTATACCTT	0.418000													52	80					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48679377	48679377	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48679377A>C	ENST00000544264.1	-	33	9026	c.8746T>G	c.(8746-8748)Tca>Gca	p.S2916A	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2911A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2911					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCGCTTTCTGAAGATGGAATG	0.597000													9	20					0	0	0.008291	0	0
SIM2	6493	broad.mit.edu	37	21	38098456	38098456	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:38098456T>C	ENST00000290399.6	+	6	1193	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	SIM2_ENST00000430056.3_Missense_Mutation_p.Y194H	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	194					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GATCAGGCAGTATATGCTGGA	0.612000													30	89					0	0	0.004289	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407760	1407760	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:1407760T>A	ENST00000381524.3	+	6	638	c.452T>A	c.(451-453)tTt>tAt	p.F151Y	CSF2RA_ENST00000381529.3_Missense_Mutation_p.F151Y|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F151Y|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F151Y|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F151Y|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F151Y|CSF2RA_ENST00000417535.2_Missense_Mutation_p.F151Y|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F151Y|CSF2RA_ENST00000501036.2_Missense_Mutation_p.F18Y|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F151Y			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	151						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCAGTATTTTTTGTACATA	0.448000													41	112					0	0	0.007835	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104797	26104797	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:26104797G>A	ENST00000374332.4	+	9	1789	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	MAN1C1_ENST00000374329.1_Missense_Mutation_p.E258K|MAN1C1_ENST00000263979.3_Missense_Mutation_p.E307K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E487*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GACGTGTCACGAGTCATACGC	0.607000													11	17					0	0	0.002450	0	0
ACSM1	116285	broad.mit.edu	37	16	20696634	20696634	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:20696634G>A	ENST00000307493.4	-	2	351	c.284C>T	c.(283-285)aCc>aTc	p.T95I	ACSM1_ENST00000520010.1_Missense_Mutation_p.T95I|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	95					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TACACGGCGGGTTAGGTCTCC	0.557000													47	65					0	0	0.003610	0	0
FGD2	221472	broad.mit.edu	37	6	36995938	36995938	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36995938G>A	ENST00000274963.8	+	16	2138	c.1967G>A	c.(1966-1968)tGa>tAa	p.*656*		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	0					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTGTCCGACTGAGCCACTGCC	0.692000													12	13					0	0	0.001368	0	0
AADACL4	343066	broad.mit.edu	37	1	12704574	12704574	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12704574C>T	ENST00000376221.1	+	1	9	c.9C>T	c.(7-9)gtC>gtT	p.V3V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	3						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ACATGGCTGTCCCCTGGCTAG	0.567000													40	48					0	0	0.011902	0	0
MUC4	4585	broad.mit.edu	37	3	195493606	195493606	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:195493606C>T	ENST00000463781.3	-	8	14005	c.13546G>A	c.(13546-13548)Gaa>Aaa	p.E4516K	MUC4_ENST00000475231.1_Missense_Mutation_p.E4464K|MUC4_ENST00000349607.4_Missense_Mutation_p.E229K|MUC4_ENST00000346145.4_Missense_Mutation_p.E280K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1273					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGCTGTTTTCGAAATAGCCA	0.547000													27	25					0	0	0.009535	0	0
NOL9	79707	broad.mit.edu	37	1	6589208	6589208	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:6589208G>A	ENST00000377705.5	-	10	1703	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	557					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTAATCCGGAGTGCGACTG	0.443000													15	17					0	0	0.004990	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555345	44555345	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:44555345G>A	ENST00000330682.2	-	1	1104	c.869C>T	c.(868-870)gCc>gTc	p.A290V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGGTCATGGCCTCAAAAGC	0.622000													21	252					0	0	0.008361	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600423	3600423	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:3600423G>A	ENST00000375190.4	-	2	603	c.210C>T	c.(208-210)ctC>ctT	p.L70L	TBXA2R_ENST00000411851.3_Silent_p.L70L|TBXA2R_ENST00000589966.1_Silent_p.L70L	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	70					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGTGAGGACGAGGCCGCAGA	0.711000													8	22					0	0	0.004482	0	0
PCSK2	5126	broad.mit.edu	37	20	17434573	17434573	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:17434573G>A	ENST00000262545.2	+	9	1387	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PCSK2_ENST00000536609.1_Missense_Mutation_p.G323R|PCSK2_ENST00000377899.1_Missense_Mutation_p.G339R	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	358	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCAGCAACGGGAGGAAAAG	0.592000													16	25					0	0	0.004007	0	0
NBPF1	55672	broad.mit.edu	37	1	16902895	16902895	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:16902895G>A	ENST00000430580.2	-	19	2873	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	NBPF1_ENST00000287968.8_Silent_p.S27S|NBPF1_ENST00000432949.1_Silent_p.S120S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	662						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAATGAGCAGGAGGCATCTC	0.552000													57	453					0	0	0.003610	0	0
FSCB	84075	broad.mit.edu	37	14	44975203	44975203	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:44975203G>A	ENST00000340446.4	-	1	1279	c.988C>T	c.(988-990)Cct>Tct	p.P330S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	330	Pro-rich.					cilium		p.P330S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTTCAGCAGGAAACTCCACT	0.512000													29	57					0	0	0.006320	0	0
CLVS2	134829	broad.mit.edu	37	6	123369860	123369860	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:123369860G>A	ENST00000275162.4	+	4	1993	c.658G>A	c.(658-660)Gag>Aag	p.E220K	CLVS2_ENST00000368438.1_Missense_Mutation_p.E74K	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	220	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTTCCTGAAGGAGAAAACTCG	0.388000													58	36					0	0	0.003610	0	0
CEP250	11190	broad.mit.edu	37	20	34087914	34087914	+	Missense_Mutation	SNP	C	C	T	rs150723097		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34087914C>T	ENST00000397527.1	+	28	4534	c.3814C>T	c.(3814-3816)Cgt>Tgt	p.R1272C	CEP250_ENST00000342580.4_Missense_Mutation_p.R1216C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1272	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTGGAAGAGCGTCTAACTGA	0.512000													35	78					0	0	0.004878	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017136	91017136	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:91017136C>T	ENST00000268182.5	+	21	2566	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S	IQGAP1_ENST00000560738.1_Silent_p.S242S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	814	IQ 3.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTCAGTCCCTGGCAAGGA	0.512000													20	41					0	0	0.010504	0	0
PRSS33	260429	broad.mit.edu	37	16	2836100	2836100	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2836100C>T	ENST00000576886.1	-	2	362	c.69G>A	c.(67-69)agG>agA	p.R23R	PRSS33_ENST00000293851.5_Silent_p.R23R|PRSS33_ENST00000570702.1_Silent_p.R23R			Q8NF86	PRS33_HUMAN	protease, serine, 33	23					proteolysis		serine-type endopeptidase activity			prostate(1)	1						CTGCAGACTTCCTTCCCTGAG	0.612000													21	25					0	0	0.002780	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56807811	56807811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:56807811G>A	ENST00000413728.2	-	2	691	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ARHGEF3_ENST00000338458.4_Nonsense_Mutation_p.R76*|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Nonsense_Mutation_p.R15*|ARHGEF3_ENST00000496106.1_Nonsense_Mutation_p.R50*|ARHGEF3_ENST00000495373.1_Nonsense_Mutation_p.R44*|ARHGEF3_ENST00000296315.3_Nonsense_Mutation_p.R44*	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	44					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACGTGACTCGGGAAAGGGGT	0.468000													33	67					0	0	0.004289	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736599	26736599	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26736599G>A	ENST00000529632.2	+	10	2408		c.e10+1		SEZ6L_ENST00000360929.3_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000248933.6_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACTACATAGGTAGGTGTCTC	0.423000													21	32					0	0	0.008871	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32902752	32902752	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32902752G>A	ENST00000418107.2	-	6	1050	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	263					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTGCCTCTAGGAAATGTGCCA	0.438000													29	15					0	0	0.010818	0	0
MYO3A	53904	broad.mit.edu	37	10	26432494	26432494	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:26432494A>G	ENST00000265944.5	+	21	2546	c.2380A>G	c.(2380-2382)Agt>Ggt	p.S794G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	794	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGATGAAGAAAGTAGATTTCC	0.403000													22	27					0	0	0.002780	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902690	61902690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:61902690C>T	ENST00000427159.2	-	7	1152	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	169					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGAAAGATCCATAGCAGAG	0.527000													25	74					0	0	0.003954	0	0
HTR3C	170572	broad.mit.edu	37	3	183774074	183774074	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:183774074C>T	ENST00000318351.1	+	4	423	c.389_splice	c.e4+1	p.S130_splice		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	130						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATCGTGGAATCGTGCGTATGC	0.502000													25	48					0	0	0.006320	0	0
IDH3A	3419	broad.mit.edu	37	15	78452546	78452546	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:78452546A>C	ENST00000299518.2	+	4	370	c.287A>C	c.(286-288)aAa>aCa	p.K96T	IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.K96T|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	96					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	ATGGGCTTGAAAGGTAGCACT	0.458000													15	15					0	0	0.004990	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F|KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													23	30					0	0	0.002780	0	0
SLC35B1	10237	broad.mit.edu	37	17	47783627	47783627	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:47783627G>A	ENST00000240333.6	-	3	399	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S130F			P78383	S35B1_HUMAN	solute carrier family 35, member B1	93						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ACCCAGATAGGAGATAGAACA	0.468000													22	46					0	0	0.002299	0	0
TFEB	7942	broad.mit.edu	37	6	41658526	41658526	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:41658526G>A	ENST00000394283.1	-	3	1569	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S	TFEB_ENST00000373033.1_Missense_Mutation_p.P115S|TFEB_ENST00000403298.4_Missense_Mutation_p.P115S|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Missense_Mutation_p.P115S|TFEB_ENST00000358871.2_Missense_Mutation_p.P129S			P19484	TFEB_HUMAN	transcription factor EB	115				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGGGTTTCGGAGAGCCCTGG	0.632000			T	ALPHA	renal (childhood epithelioid)								26	31					0	0	0.008361	0	0
CILP2	148113	broad.mit.edu	37	19	19653722	19653722	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19653722C>T	ENST00000586018.1	+	6	1038	c.936C>T	c.(934-936)ggC>ggT	p.G312G	CILP2_ENST00000291495.4_Silent_p.G306G			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	306	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GAGAGGCTGGCCAGAATGTGA	0.597000													45	88					0	0	0.003610	0	0
HSF1	3297	broad.mit.edu	37	8	145535748	145535748	+	Silent	SNP	C	C	T	rs143898779		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145535748C>T	ENST00000528838.1	+	9	1120	c.960C>T	c.(958-960)tcC>tcT	p.S320S	HSF1_ENST00000400780.4_Silent_p.S255S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	320						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCCATCTTCCGTGGACACCC	0.711000													34	15					0	0	0.006230	0	0
RFX1	5989	broad.mit.edu	37	19	14094355	14094355	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:14094355G>A	ENST00000254325.4	-	3	606	c.372C>T	c.(370-372)acC>acT	p.T124T		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	124					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCTGGCTGGCGGTGGAGCCGG	0.701000													8	18					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803067	185803067	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:185803067G>A	ENST00000302277.6	+	4	3538	c.2944G>A	c.(2944-2946)Gga>Aga	p.G982R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCCACAAGGAAAGATGAA	0.423000													25	46					0	0	0.003954	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955374	102955374	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:102955374G>A	ENST00000311734.2	+	3	478	c.139G>A	c.(139-141)Gat>Aat	p.D47N	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000393393.3_Missense_Mutation_p.D47N|IL1RL1_ENST00000409584.1_Missense_Mutation_p.D47N|IL1RL1_ENST00000233954.1_Missense_Mutation_p.D47N|IL1RL1_ENST00000473175.1_3'UTR			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	47	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTACACCGTGGATTGGTATTA	0.403000													57	74					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48690561	48690561	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48690561G>A	ENST00000544264.1	-	10	5788	c.5508C>T	c.(5506-5508)ctC>ctT	p.L1836L	CELSR3_ENST00000164024.4_Silent_p.L1836L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1836	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCCAGAAGGAGATGGGAAG	0.627000													19	39					0	0	0.008871	0	0
SF3B4	10262	broad.mit.edu	37	1	149895454	149895454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:149895454G>A	ENST00000271628.8	-	6	1839	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	419						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGAGGGCCTCGAAGTGGGCCT	0.572000													8	20					0	0	0.004482	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668226	71668226	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71668226G>A	ENST00000567501.1	+	3	358	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MARVELD3_ENST00000268485.3_Silent_p.G242G|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGTTCGGAGGGGCTTACAGTG	0.562000													34	70					0	0	0.006230	0	0
UPB1	51733	broad.mit.edu	37	22	24919670	24919670	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24919670C>T	ENST00000413389.2	+	9	2389	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	UPB1_ENST00000326010.5_Missense_Mutation_p.R334W|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	334	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTCCCGTAGCCGGGATGGACT	0.547000													51	58					0	0	0.003610	0	0
TRIM26	7726	broad.mit.edu	37	6	30166464	30166464	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:30166464C>T	ENST00000454678.2	-	4	853	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TRIM26_ENST00000437089.1_Silent_p.E139E|TRIM26_ENST00000453195.1_Silent_p.E139E	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	139							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGCGGCCTTCTCCATGAGGA	0.642000													7	30					0	0	0.004482	0	0
ROBO2	6092	broad.mit.edu	37	3	77599980	77599980	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:77599980C>T	ENST00000461745.1	+	8	1971	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ROBO2_ENST00000487694.3_Silent_p.F373F|ROBO2_ENST00000332191.8_Silent_p.F357F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	357	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTACTTTTCCCAAACCAAC	0.413000													18	36					0	0	0.008871	0	0
MYH7	4625	broad.mit.edu	37	14	23894188	23894188	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23894188C>T	ENST00000355349.3	-	22	2631	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	823			G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATTCTTGACCCCCATGAAGG	0.547000													20	48					0	0	0.008871	0	0
IGSF1	3547	broad.mit.edu	37	X	130412036	130412036	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:130412036C>T	ENST00000370904.1	-	19	2997	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	IGSF1_ENST00000370903.3_Missense_Mutation_p.G710E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G696E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G705E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	705	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGCCAGCCATCCTTTGCACCG	0.517000													73	13					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179424178	179424178	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179424178G>A	ENST00000589042.1	-	326	86905	c.86681C>T	c.(86680-86682)tCt>tTt	p.S28894F	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26326F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S27253F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19954F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20021F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19829F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27253	Ig-like 133.						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)			GTTGGTCACAGAGACCCATGC	0.438000													34	78					0	0	0.003271	0	0
KNDC1	85442	broad.mit.edu	37	10	134999848	134999848	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134999848C>T	ENST00000304613.3	+	6	1017	c.996C>T	c.(994-996)ccC>ccT	p.P332P	KNDC1_ENST00000368571.2_Silent_p.P267P|KNDC1_ENST00000368572.2_Silent_p.P332P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCAGCTGCCCATATCGGAAT	0.622000													6	23					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179424620	179424620	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179424620C>T	ENST00000589042.1	-	326	86463	c.86239G>A	c.(86239-86241)Gaa>Aaa	p.E28747K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26179K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27106K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19807K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19874K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19682K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27106	Fibronectin type-III 109.						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)			TCTTCTCTTTCCTTTGCTATC	0.433000													26	59					0	0	0.004656	0	0
CELSR2	1952	broad.mit.edu	37	1	109792751	109792751	+	Missense_Mutation	SNP	T	T	C	rs72003155	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:109792751T>C	ENST00000271332.3	+	1	111	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	17					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ccgccgccgctgctgctgctg	0.751000													4	62					0	0	0.009096	0	0
DHRSX	207063	broad.mit.edu	37	X	2343330	2343330	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:2343330G>A	ENST00000334651.5	-	2	177	c.125C>T	c.(124-126)cCt>cTt	p.P42L		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	42							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACACGGTCAGGTCGTGGGGG	0.453000													56	53					0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149502521	149502521	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149502521G>A	ENST00000378016.2	+	0	8334							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACGCCCTGGACTTCCTGGT	0.662000													33	42					0	0	0.007835	0	0
PCDH10	57575	broad.mit.edu	37	4	134073035	134073035	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:134073035G>T	ENST00000264360.4	+	1	2566	c.1740G>T	c.(1738-1740)ggG>ggT	p.G580G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	580					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTACCAGGGCGCAACGGGA	0.682000													17	26					1.15088e-07	1.25928e-07	0.004007	1	0
EIF4G3	8672	broad.mit.edu	37	1	21226294	21226294	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:21226294G>A	ENST00000602326.1	-	14	2328	c.1745C>T	c.(1744-1746)cCa>cTa	p.P582L	EIF4G3_ENST00000374935.3_Missense_Mutation_p.P296L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P582L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P29L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P180L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P576L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.P119L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P576L|EIF4G3_ENST00000374933.3_5'UTR	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	576					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTACGTACTGGCTCAGCTTC	0.428000													101	205					0	0	0.003610	0	0
UBE3D	90025	broad.mit.edu	37	6	83728796	83728796	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:83728796G>A	ENST00000369747.3	-	8	1028	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	302						cytoplasm	ligase activity										GGAATTTTTTGATATATTTGG	0.378000													10	8					0	0	0.010729	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484834	97484834	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:97484834C>T	ENST00000376705.2	+	2	822	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	266						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTTGGAAAACCTCTCTTCATA	0.507000													8	14					0	0	0.004482	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434869	42434869	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:42434869G>A	ENST00000397272.3	-	19	2283	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.P729L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	729	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTAGGGAAGGGGATTCCTCG	0.617000													20	32					0	0	0.012319	0	0
HSPG2	3339	broad.mit.edu	37	1	22186462	22186462	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:22186462G>A	ENST00000374695.3	-	41	5127	c.5048C>T	c.(5047-5049)cCt>cTt	p.P1683L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1683	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTTCGAGCAGGATGGACCTC	0.607000													9	22					0	0	0.008291	0	0
CLIP4	79745	broad.mit.edu	37	2	29366576	29366576	+	Splice_Site	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:29366576A>T	ENST00000320081.5	+	7	905	c.648_splice	c.e7-1	p.N217_splice	CLIP4_ENST00000404424.1_Splice_Site_p.N217_splice|CLIP4_ENST00000401605.1_Splice_Site_p.N217_splice|CLIP4_ENST00000401617.2_Splice_Site_p.N110_splice	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	217										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TATTTGTAGAATGACAAAGGA	0.388000													23	65					0	0	0.003954	0	0
KCNK2	3776	broad.mit.edu	37	1	215345525	215345525	+	Splice_Site	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:215345525A>G	ENST00000444842.2	+	5	972	c.823_splice	c.e5+1	p.A274_splice	KCNK2_ENST00000391895.2_Splice_Site_p.A270_splice|KCNK2_ENST00000391894.2_Splice_Site_p.A259_splice	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	274							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACTACGTTGCAGGTAAGCTTT	0.398000													25	97					0	0	0.008361	0	0
TENM3	55714	broad.mit.edu	37	4	183664415	183664415	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183664415A>G	ENST00000511685.1	+	19	3595	c.3472A>G	c.(3472-3474)Att>Gtt	p.I1158V	TENM3_ENST00000406950.2_Missense_Mutation_p.I1158V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AAGGCGCAGCATTTCCTGCCC	0.532000													14	35					0	0	0.002450	0	0
RHBDF2	79651	broad.mit.edu	37	17	74477580	74477580	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74477580C>T	ENST00000591885.1	-	3	577	c.27G>A	c.(25-27)ggG>ggA	p.G9G	RHBDF2_ENST00000313080.4_Silent_p.G9G|RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000389760.4_Silent_p.G9G			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	9					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGGACACGCTCCCGCCATTCT	0.682000													15	18					0	0	0.003163	0	0
DCN	1634	broad.mit.edu	37	12	91545483	91545483	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:91545483T>C	ENST00000052754.5	-	7	1334	c.833A>G	c.(832-834)aAc>aGc	p.N278S	DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.N169S|DCN_ENST00000547568.2_Missense_Mutation_p.N131S|DCN_ENST00000393155.1_Missense_Mutation_p.N278S|DCN_ENST00000425043.1_Missense_Mutation_p.N131S|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.N169S|DCN_ENST00000552962.1_Missense_Mutation_p.N278S|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	278					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AAGCTTGTTGTTGTCCAAGTG	0.488000													12	19					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525476	176525476	+	Silent	SNP	C	C	T	rs148899801		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:176525476C>T	ENST00000367662.3	+	2	1182	c.18C>T	c.(16-18)atC>atT	p.I6I	PAPPA2_ENST00000367661.3_Silent_p.I6I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	6					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.I6I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTAAAGATCCTAAGAATAA	0.517000													37	139					0	0	0.010771	0	0
OTOGL	283310	broad.mit.edu	37	12	80770955	80770955	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:80770955G>A	ENST00000458043.2	+	57	6813	c.6807G>A	c.(6805-6807)agG>agA	p.R2269R	OTOGL_ENST00000547103.1_Silent_p.R2257R|OTOGL_ENST00000546620.1_Silent_p.R288R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGGTCATAAGGAAACAGGACT	0.333000													15	26					0	0	0.008871	0	0
CPT1B	1375	broad.mit.edu	37	22	51012817	51012817	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:51012817G>A	ENST00000360719.2	-	9	1054	c.917C>T	c.(916-918)tCc>tTc	p.S306F	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.S306F|CPT1B_ENST00000457250.1_Missense_Mutation_p.S272F|CPT1B_ENST00000440709.1_Missense_Mutation_p.S306F|CPT1B_ENST00000395650.2_Missense_Mutation_p.S306F|CPT1B_ENST00000434492.2_Missense_Mutation_p.S103F|CPT1B_ENST00000405237.3_Missense_Mutation_p.S306F	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	306					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATCTGGTAGGAGCACATAGG	0.607000													13	22					0	0	0.001855	0	0
ZNF366	167465	broad.mit.edu	37	5	71756135	71756135	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:71756135C>T	ENST00000318442.5	-	2	1679	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTCGCACTCGGAGCAGTTG	0.592000													14	35					0	0	0.004007	0	0
STARD13	90627	broad.mit.edu	37	13	33701617	33701617	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:33701617G>A	ENST00000336934.5	-	6	1931	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	STARD13_ENST00000399365.3_Silent_p.I487I|STARD13_ENST00000255486.4_Silent_p.I597I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	605					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTGGCTGCTGATGTGGGGCG	0.627000													4	4					0	0	0.009096	0	0
DAB2	1601	broad.mit.edu	37	5	39381627	39381627	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:39381627G>A	ENST00000545653.1	-	10	1900	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	DAB2_ENST00000339788.6_Missense_Mutation_p.A260V|DAB2_ENST00000320816.6_Missense_Mutation_p.A478V|DAB2_ENST00000509337.1_Missense_Mutation_p.A457V	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	478					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGCTGCAGGGCTGTAGGTTG	0.542000													35	68					0	0	0.003755	0	0
PARP9	83666	broad.mit.edu	37	3	122274910	122274910	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:122274910G>A	ENST00000462315.1	-	4	401	c.108C>T	c.(106-108)ttC>ttT	p.F36F	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Silent_p.F71F|PARP9_ENST00000477522.2_Silent_p.F36F|PARP9_ENST00000471785.1_Silent_p.F36F	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	71					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTAAAATTTTGAAGTCATTGT	0.363000													10	24					0	0	0.002450	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030529	129030529	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:129030529G>A	ENST00000274487.4	+	19	3062	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	973	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGTGCAATGAGCAACCATG	0.383000													31	37					0	0	0.004289	0	0
FAM213B	127281	broad.mit.edu	37	1	2520471	2520471	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:2520471C>T	ENST00000378424.4	+	6	699	c.683C>T	c.(682-684)cCc>cTc	p.P228L	FAM213B_ENST00000444521.2_Missense_Mutation_p.P209S|FAM213B_ENST00000419916.2_Missense_Mutation_p.P221S|FAM213B_ENST00000378425.5_Missense_Mutation_p.P191S|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Missense_Mutation_p.P184S			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	0					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TGCCAGCGACCCGCCTCAGGT	0.677000													18	36					0	0	0.002299	0	0
SMG8	55181	broad.mit.edu	37	17	57288417	57288417	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:57288417C>T	ENST00000543872.2	+	2	1269	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.F335F|SMG8_ENST00000300917.5_Silent_p.F335F|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	335					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCAAGCTTTCGTGTACATAG	0.502000													27	62					0	0	0.007291	0	0
TSHB	7252	broad.mit.edu	37	1	115576077	115576077	+	Missense_Mutation	SNP	G	G	A	rs121918669		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:115576077G>A	ENST00000256592.1	+	2	162	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	TSHB_ENST00000369517.1_Missense_Mutation_p.E32K	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	32					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AATGCACATCGAAAGGAGAGA	0.423000													42	51					0	0	0.010771	0	0
CYP4F22	126410	broad.mit.edu	37	19	15659975	15659975	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15659975G>A	ENST00000269703.2	+	12	1496	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	CYP4F22_ENST00000601005.2_Missense_Mutation_p.G433R	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	433						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAGCATCTATGGAACCCACCA	0.632000													23	37					0	0	0.006320	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993982	106993982	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106993982C>T	ENST00000390624.2	-	0	261																											CCAGCCCCTTCCCTGGAGCCT	0.537000													85	122					0	0	0.003610	0	0
TEK	7010	broad.mit.edu	37	9	27172649	27172649	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:27172649C>T	ENST00000380036.4	+	5	1106	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	TEK_ENST00000406359.4_Missense_Mutation_p.H222Y|TEK_ENST00000519097.1_Missense_Mutation_p.H118Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	222	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGAATGCAACCATCTCTGTAC	0.468000													12	12					0	0	0.001368	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2416539	2416539	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:2416539G>A	ENST00000332578.3	+	11	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	549	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATAGCACGAAGGTGGAGC	0.687000													9	11					0	0	0.010729	0	0
CACNG5	27091	broad.mit.edu	37	17	64880763	64880763	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:64880763C>T	ENST00000533854.1	+	5	792	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CACNG5_ENST00000169565.3_Silent_p.S185S|CACNG5_ENST00000307139.3_Silent_p.S185S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	185					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGCCATCTCCTTCCTTTTAA	0.562000													29	64					0	0	0.007291	0	0
HPS1	3257	broad.mit.edu	37	10	100195443	100195443	+	Silent	SNP	G	G	A	rs149759513		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:100195443G>A	ENST00000325103.6	-	4	437	c.204C>T	c.(202-204)acC>acT	p.T68T	HPS1_ENST00000361490.4_Silent_p.T68T|HPS1_ENST00000338546.5_Silent_p.T68T|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	68					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCAGGTGTAGGTGTCCGAGA	0.567000									Hermansky-Pudlak syndrome				22	60					0	0	0.010504	0	0
PI4KB	5298	broad.mit.edu	37	1	151288521	151288521	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:151288521G>A	ENST00000368875.2	-	3	1053	c.473C>T	c.(472-474)tCa>tTa	p.S158L	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.S146L|PI4KB_ENST00000271657.5_Missense_Mutation_p.S158L|PI4KB_ENST00000368873.1_Missense_Mutation_p.S146L|PI4KB_ENST00000368872.1_Missense_Mutation_p.S146L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	146					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACAGGTATGAAATGGCCAT	0.507000													27	110					0	0	0.009535	0	0
MUL1	79594	broad.mit.edu	37	1	20829787	20829787	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:20829787G>A	ENST00000264198.3	-	2	272	c.136C>T	c.(136-138)Cat>Tat	p.H46Y		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	46					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCACCCAAATGAACTTTTTTA	0.313000													9	15					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108434807	108434807	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:108434807G>A	ENST00000263054.6	-	14	1947	c.1940_splice	c.e14+1	p.T647_splice	SORCS1_ENST00000344440.6_Splice_Site_p.T647_splice|SORCS1_ENST00000369698.1_Splice_Site_p.T182_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	647						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)		TTCAACTTACGTCATGATGAG	0.403000													27	59					0	0	0.008361	0	0
ALK	238	broad.mit.edu	37	2	29451861	29451861	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:29451861C>T	ENST00000389048.3	-	16	3610	c.2704G>A	c.(2704-2706)Gga>Aga	p.G902R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	902	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAATGTCCTCCGGTGGCACCC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	19					0	0	0.009096	0	0
ACLY	47	broad.mit.edu	37	17	40063700	40063700	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40063700G>A	ENST00000352035.2	-	7	872	c.742C>T	c.(742-744)Cca>Tca	p.P248S	ACLY_ENST00000353196.1_Missense_Mutation_p.P248S|ACLY_ENST00000590151.1_Missense_Mutation_p.P248S|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.P248S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	248					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTTACCTCTGGATATGCCTCC	0.597000													27	98					0	0	0.005443	0	0
CDH17	1015	broad.mit.edu	37	8	95143165	95143165	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:95143165G>A	ENST00000027335.3	-	16	2347	c.2223C>T	c.(2221-2223)gtC>gtT	p.V741V	CDH17_ENST00000441892.2_Silent_p.V527V|CDH17_ENST00000450165.2_Silent_p.V741V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	741	Cadherin 7.					integral to membrane	calcium ion binding	p.V741V(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGATCAAGACGACATACTCCC	0.478000													60	23					0	0	0.003610	0	0
CCL2	6347	broad.mit.edu	37	17	32583826	32583826	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:32583826A>G	ENST00000225831.4	+	3	345	c.280A>G	c.(280-282)Acc>Gcc	p.T94A	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	94					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GGACAAGCAAACCCAAACTCC	0.493000													7	30					0	0	0.004482	0	0
NPHS1	4868	broad.mit.edu	37	19	36340480	36340480	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36340480G>A	ENST00000378910.5	-	6	683	c.684C>T	c.(682-684)atC>atT	p.I228I	NPHS1_ENST00000353632.6_Silent_p.I228I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	228	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGAGGCCTTGATGGGGGCCT	0.587000													37	55					0	0	0.010771	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45218332	45218332	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:45218332C>T	ENST00000352766.7	+	11	1098	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	ARHGAP8_ENST00000389774.2_Silent_p.I187I|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.I287I|ARHGAP8_ENST00000356099.6_Silent_p.I156I|ARHGAP8_ENST00000336963.4_Silent_p.I156I|ARHGAP8_ENST00000389773.5_Silent_p.I278I|ARHGAP8_ENST00000517296.3_Silent_p.I366I																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGCTGGTCATCCCTCCCGAAG	0.463000													25	44					0	0	0.007291	0	0
CHST5	23563	broad.mit.edu	37	16	75563417	75563417	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:75563417C>T	ENST00000336257.3	-	3	2260	c.866G>A	c.(865-867)cGc>cAc	p.R289H	CHST5_ENST00000541075.1_Missense_Mutation_p.R295H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	289					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGGCGGTAGCGGCCGCGCAG	0.716000													24	55					0	0	0.004656	0	0
BTNL8	79908	broad.mit.edu	37	5	180335759	180335759	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:180335759T>A	ENST00000231229.4	+	2	457	c.223T>A	c.(223-225)Ttt>Att	p.F75I	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.F75I|BTNL8_ENST00000508408.1_Missense_Mutation_p.F75I|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	75	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCAGCCATTTATGCAGAT	0.532000													81	133					0	0	0.003610	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74193623	74193623	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:74193623G>A	ENST00000286523.5	-	6	2997	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R739C	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GCCAGGGCACGGTCCCTCATC	0.622000													16	29					0	0	0.003163	0	0
ZNF200	7752	broad.mit.edu	37	16	3273957	3273957	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3273957G>A	ENST00000431561.3	-	5	1735	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	ZNF200_ENST00000396871.4_Missense_Mutation_p.R374W|ZNF200_ENST00000414144.2_Missense_Mutation_p.R375W|ZNF200_ENST00000396870.4_Missense_Mutation_p.R374W|ZNF200_ENST00000396868.3_Missense_Mutation_p.R374W|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R374W	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TTTGACAGCCGACCAAATCTT	0.488000													122	192					0	0	0.003610	0	0
DLG5	9231	broad.mit.edu	37	10	79590511	79590511	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:79590511G>A	ENST00000372391.2	-	10	1874	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	DLG5_ENST00000372388.2_Silent_p.F623F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	623	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.F623F(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCCTCTCGAACTCTACAA	0.557000													17	29					0	0	0.006122	0	0
FER1L6	654463	broad.mit.edu	37	8	125047638	125047638	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:125047638G>A	ENST00000522917.1	+	19	2613	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E803K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	803						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTATGAAGCAGAAATGTCCTC	0.547000													39	14					0	0	0.007835	0	0
ALS2	57679	broad.mit.edu	37	2	202609105	202609105	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:202609105G>A	ENST00000264276.6	-	10	2418	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A	ALS2_ENST00000457679.2_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	682					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TATCCACCAAGGCTAAATAGC	0.328000													11	27					0	0	0.010729	0	0
LOC653786	653786	broad.mit.edu	37	16	22563792	22563792	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:22563792C>T	ENST00000550753.1	+	0	1447					NR_003676.2																						TCAGTCTGTTCGGAACAGCAG	0.493000													20	86					0	0	0.012319	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655567	77655567	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:77655567G>A	ENST00000407578.2	-	65	11679	c.11413C>T	c.(11413-11415)Ctt>Ttt	p.L3805F	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L3767F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L3767F|MYCBP2-AS1_ENST00000448470.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3767	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTACCCCAAGATCTCGGGAA	0.383000													46	23					0	0	0.003610	0	0
PRKCB	5579	broad.mit.edu	37	16	24196784	24196784	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:24196784C>T	ENST00000303531.7	+	15	1770	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S	PRKCB_ENST00000321728.7_Missense_Mutation_p.P540S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	540	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CATACAGGCACCCTTTGAAGG	0.557000													20	44					0	0	0.007413	0	0
COL19A1	1310	broad.mit.edu	37	6	70894800	70894800	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:70894800G>A	ENST00000322773.4	+	46	2951	c.2849G>A	c.(2848-2850)gGa>gAa	p.G950E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G572E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	950	Triple-helical region 5 (COL5).				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						GGCCCCAAAGGAGAACGTGTA	0.403000													10	7					0	0	0.010729	0	0
SENP3	26168	broad.mit.edu	37	17	7466977	7466977	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7466977C>T	ENST00000321337.7	+	2	904	c.584C>T	c.(583-585)cCc>cTc	p.P195L	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000429205.2_Missense_Mutation_p.P195L|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	195	Poly-Pro.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CCACCTCCACCCCGGCTGGGT	0.652000													13	15					0	0	0.001368	0	0
LMF1	64788	broad.mit.edu	37	16	929698	929698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:929698G>A	ENST00000262301.11	-	6	787	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.H40Y|LMF1_ENST00000399843.2_Missense_Mutation_p.H257Y|LMF1_ENST00000543238.1_Missense_Mutation_p.H20Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	257						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CAGGGTGAGTGGTGCAGGTAG	0.652000													5	6					0	0	0.001168	0	0
OR52N4	390072	broad.mit.edu	37	11	5776682	5776682	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:5776682A>T	ENST00000317254.3	+	1	760	c.712A>T	c.(712-714)Aag>Tag	p.K238*	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGCTCGGCAGAAGGCCTTTAA	0.493000													86	32					0	0	0.003610	0	0
FAM135A	57579	broad.mit.edu	37	6	71191749	71191749	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:71191749C>T	ENST00000418814.2	+	10	1329	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	FAM135A_ENST00000361499.3_Missense_Mutation_p.R239C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R239C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R239C|FAM135A_ENST00000370479.3_Missense_Mutation_p.R196C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R196C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	239										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCATGCGTATCGTTTTCATTA	0.388000													34	15					0	0	0.004289	0	0
PIGU	128869	broad.mit.edu	37	20	33169475	33169475	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:33169475C>T	ENST00000374820.2	-	9	888	c.866_splice	c.e9-1	p.E290_splice	PIGU_ENST00000452740.2_Splice_Site_p.E310_splice|PIGU_ENST00000480175.1_5'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	310					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATGGGGTGCTCCCTGGGGCAG	0.542000													6	18					0	0	0.001984	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813480	106813480	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:106813480A>G	ENST00000407775.2	+	8	1420	c.1170A>G	c.(1168-1170)aaA>aaG	p.K390K	ZFPM2_ENST00000378472.4_Silent_p.K121K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.K258K|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.K258K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	390					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTAGCGGCAAACTTCCCAGAG	0.517000													68	12					0	0	0.003610	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66130697	66130697	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:66130697C>T	ENST00000590019.1	-	0	298																											GGAAGAAGCCCGACTGGCCGT	0.622000													5	5					0	0	0.000602	0	0
TRIML1	339976	broad.mit.edu	37	4	189065010	189065010	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:189065010G>A	ENST00000332517.3	+	4	894	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	252					multicellular organismal development		ligase activity|zinc ion binding			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)		AGGAGCCCTGGAAAGGTAGGC	0.488000													57	106					0	0	0.003610	0	0
PCSK2	5126	broad.mit.edu	37	20	17434574	17434574	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:17434574G>A	ENST00000262545.2	+	9	1388	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	PCSK2_ENST00000536609.1_Missense_Mutation_p.G323E|PCSK2_ENST00000377899.1_Missense_Mutation_p.G339E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	358	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCAGCAACGGGAGGAAAAGG	0.592000													16	24					0	0	0.004007	0	0
STK40	83931	broad.mit.edu	37	1	36826901	36826901	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:36826901C>T	ENST00000359297.2	-	1	40	c.33G>A	c.(31-33)ggG>ggA	p.G11G	STK40_ENST00000373130.3_Silent_p.G11G|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373132.3_Silent_p.G11G|STK40_ENST00000373129.3_Silent_p.G11G			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	11						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGACGTTTCCCCAGCTCCTC	0.502000													42	77					0	0	0.011902	0	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612000													17	66					0	0	0.008871	0	0
C8orf4	56892	broad.mit.edu	37	8	40011331	40011331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:40011331C>T	ENST00000315792.3	+	1	343	c.280C>T	c.(280-282)Cag>Tag	p.Q94*		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	94					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CAAGCTTTTCCAGTTTCTGAA	0.428000													57	17					0	0	0.003610	0	0
DHRSX	207063	broad.mit.edu	37	X	2343329	2343329	+	Silent	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:2343329A>C	ENST00000334651.5	-	2	178	c.126T>G	c.(124-126)ccT>ccG	p.P42P		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	42							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGACACGGTCAGGTCGTGGGG	0.448000													56	55					0	0	0.003610	0	0
CELF5	60680	broad.mit.edu	37	19	3281301	3281301	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:3281301C>T	ENST00000541430.2	+	6	744	c.708C>T	c.(706-708)tcC>tcT	p.S236S	CELF5_ENST00000292672.2_Silent_p.S236S	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	236					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGACGCCGTCCCTCACATTGC	0.647000													38	61					0	0	0.010771	0	0
ITGA4	3676	broad.mit.edu	37	2	182347248	182347248	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182347248C>T	ENST00000397033.2	+	9	1341	c.911C>T	c.(910-912)tCg>tTg	p.S304L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	304					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGCTTGGATCGTACTTTGGA	0.483000													67	156					0	0	0.003610	0	0
MOB3A	126308	broad.mit.edu	37	19	2076990	2076990	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:2076990G>A	ENST00000357066.3	-	4	823	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MOB3A_ENST00000592280.1_Silent_p.F148F|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	148						intracellular	metal ion binding										CCGTCTGCAGGAAGTTCTTGG	0.612000													6	19					0	0	0.004482	0	0
STAT6	6778	broad.mit.edu	37	12	57499067	57499067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57499067G>A	ENST00000300134.3	-	9	1193	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	STAT6_ENST00000556155.1_Nonsense_Mutation_p.Q290*|STAT6_ENST00000543873.2_Nonsense_Mutation_p.Q290*|STAT6_ENST00000537215.2_Nonsense_Mutation_p.Q180*|STAT6_ENST00000454075.3_Nonsense_Mutation_p.Q290*|STAT6_ENST00000538913.2_Nonsense_Mutation_p.Q180*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	290					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ACTCCAGCCTGGAACTTGGTC	0.627000													25	39					0	0	0.007291	0	0
CDK3	1018	broad.mit.edu	37	17	73998155	73998155	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73998155C>T	ENST00000425876.2	+	3	335	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.L83F			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	83	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GTTTGAGTTCCTCAGCCAGGA	0.572000													36	28					0	0	0.003755	0	0
ARID2	196528	broad.mit.edu	37	12	46245027	46245027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:46245027C>T	ENST00000334344.6	+	15	3293	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q651*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q892*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1041	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATGCAAGTTCAACCTCAACA	0.512000			"""N, S, F"""		hepatocellular carcinoma								36	48					0	0	0.006999	0	0
APCDD1	147495	broad.mit.edu	37	18	10468492	10468492	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:10468492C>T	ENST00000355285.4	+	2	439	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	APCDD1_ENST00000578882.1_Missense_Mutation_p.H29Y	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	29					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TGCCCTCCTTCATCCAGACAG	0.488000													63	119					0	0	0.003610	0	0
LMF2	91289	broad.mit.edu	37	22	50942023	50942023	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:50942023C>T	ENST00000216080.5	-	14	2014	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	LMF2_ENST00000380796.3_Missense_Mutation_p.G528R|LMF2_ENST00000474879.2_Missense_Mutation_p.G641R			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	641						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGAGGAGCCCCCAGAGCAGG	0.692000													4	2					0	0	0.000602	0	0
SCN11A	11280	broad.mit.edu	37	3	38888478	38888478	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38888478C>T	ENST00000302328.3	-	26	5281	c.5083G>A	c.(5083-5085)Ggt>Agt	p.G1695S	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1657S|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1695S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1695					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)	TCAGAGCCACCGAGTACCCTA	0.453000													38	59					0	0	0.004878	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382963	39382963	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39382963C>T	ENST00000377721.3	+	1	64	c.57C>T	c.(55-57)tgC>tgT	p.C19C	KRTAP9-2_ENST00000455970.2_Silent_p.C19C	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	19	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGCAGGACCACCT	0.637000													33	127					0	0	0.010771	0	0
SNX19	399979	broad.mit.edu	37	11	130781576	130781576	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:130781576G>A	ENST00000265909.4	-	2	2334	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	SNX19_ENST00000539184.1_Silent_p.L32L|SNX19_ENST00000533214.1_Silent_p.L589L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000528555.1_5'UTR	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	589	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGGGTCTGCAGATTCAAGAAC	0.552000													33	12					0	0	0.002836	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602309	31602309	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31602309C>T	ENST00000376033.2	+	20	5144	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1637L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1637	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTGAGTCCTTTTGAGGAT	0.572000													8	14					0	0	0.003080	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957528	96957528	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:96957528G>A	ENST00000323853.5	-	17	2348	c.2271C>T	c.(2269-2271)gcC>gcT	p.A757A	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	757	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTCTGTGGAGGCTGAGCCCT	0.587000													11	24					0	0	0.010729	0	0
TENM3	55714	broad.mit.edu	37	4	183713613	183713613	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183713613G>A	ENST00000511685.1	+	26	5911	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1930K					teneurin transmembrane protein 3																		GGACTACAACGAGGAAGGGCT	0.488000													34	49					0	0	0.003755	0	0
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55221850G>A	ENST00000413439.1	+	0	1415																											AGCTCAGAACGAGGTGGGGCA	0.637000													10	14					0	0	0.008291	0	0
PTH1R	5745	broad.mit.edu	37	3	46939393	46939393	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46939393G>A	ENST00000449590.1	+	6	565	c.362G>A	c.(361-363)gGg>gAg	p.G121E	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Missense_Mutation_p.G121E|PTH1R_ENST00000418619.1_Missense_Mutation_p.G121E|PTH1R_ENST00000313049.5_Missense_Mutation_p.G121E	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	121						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGGCCGCTGGGGGCACCAGGT	0.607000													13	14					0	0	0.001368	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131868	82131868	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:82131868G>A	ENST00000199936.4	+	5	1184	c.991G>A	c.(991-993)Gcg>Acg	p.A331T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	331					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGCTATCTTGGCGAAGAGCCC	0.483000													24	37					0	0	0.003954	0	0
LTBP1	4052	broad.mit.edu	37	2	33477784	33477784	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:33477784C>T	ENST00000404816.2	+	11	2393	c.2040C>T	c.(2038-2040)taC>taT	p.Y680Y	LTBP1_ENST00000404525.1_Silent_p.Y354Y|LTBP1_ENST00000402934.1_Silent_p.Y354Y|LTBP1_ENST00000390003.4_Silent_p.Y354Y|LTBP1_ENST00000407925.1_Silent_p.Y354Y|LTBP1_ENST00000418533.2_Silent_p.Y354Y|LTBP1_ENST00000354476.3_Silent_p.Y680Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	680	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCCCTGTTACCGACTTGTCA	0.517000													45	69					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41424009	41424009	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:41424009C>T	ENST00000400454.1	-	30	5538	c.5061G>A	c.(5059-5061)acG>acA	p.T1687T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1687					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTCAGCATCCGTCAACAGAA	0.537000													25	49					0	0	0.002780	0	0
MECR	51102	broad.mit.edu	37	1	29533322	29533322	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:29533322G>A	ENST00000373791.3	-	4	646	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	MECR_ENST00000263702.6_Missense_Mutation_p.P168S|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	168					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTGTGCAGGGATTGACACCC	0.602000													28	41					0	0	0.003755	0	0
LRP1	4035	broad.mit.edu	37	12	57550673	57550673	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57550673A>G	ENST00000243077.3	+	10	1997	c.1531A>G	c.(1531-1533)Agc>Ggc	p.S511G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	511	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTCCGGCTTCAGCCTGGGCAG	0.637000													6	13					0	0	0.008291	0	0
ZNF592	9640	broad.mit.edu	37	15	85341252	85341252	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:85341252C>T	ENST00000299927.3	+	3	2574	c.2552C>T	c.(2551-2553)cCc>cTc	p.P851L	ZNF592_ENST00000560079.2_Missense_Mutation_p.P851L			Q92610	ZN592_HUMAN	zinc finger protein 592	851					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCCAGCACCCCACCCAGCCC	0.627000													13	20					0	0	0.002450	0	0
ZNF559	84527	broad.mit.edu	37	19	9449175	9449175	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9449175C>T	ENST00000587557.1	+	3	549	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	ZNF559_ENST00000586255.1_Missense_Mutation_p.L12F|ZNF559_ENST00000317221.7_5'UTR|ZNF559_ENST00000393883.2_5'UTR|ZNF177_ENST00000541595.2_5'UTR|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_5'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.L12F|ZNF559_ENST00000585352.1_5'UTR|ZNF559_ENST00000592504.1_5'UTR|ZNF559_ENST00000603380.1_5'UTR|ZNF177_ENST00000602856.1_Intron	NM_001202406.1|NM_001202408.1|NM_001202409.1|NM_001202411.1	NP_001189335.1|NP_001189337.1|NP_001189338.1|NP_001189340.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTAAGATCATCTTTCTCAAGA	0.398000													11	19					0	0	0.010729	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555887	125555887	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:125555887C>T	ENST00000431078.1	+	19	3568	c.3204C>T	c.(3202-3204)ctC>ctT	p.L1068L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1068	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGTTCTGCTCTGCAAGAATG	0.498000													12	20					0	0	0.010729	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761084	95761084	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:95761084C>T	ENST00000416240.2	-	15	1755	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	SLC25A13_ENST00000542654.1_Missense_Mutation_p.G413E|SLC25A13_ENST00000265631.5_Missense_Mutation_p.G521E	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	521					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAGCAGGCTTCCTGGGCTAAC	0.542000													37	37					0	0	0.003755	0	0
DAB1	1600	broad.mit.edu	37	1	57535066	57535066	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57535066G>A	ENST00000371236.2	-	8	893	c.630C>T	c.(628-630)atC>atT	p.I210I	DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371231.1_Silent_p.I210I|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Silent_p.I210I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	210					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGGGATCACGGATTGGCTCGT	0.413000													23	44					0	0	0.003954	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	48					0	0	0.009096	0	0
SLC2A11	66035	broad.mit.edu	37	22	24217312	24217312	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24217312C>T	ENST00000345044.6	+	4	558	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SLC2A11_ENST00000405847.1_Missense_Mutation_p.S97F|SLC2A11_ENST00000398356.2_Missense_Mutation_p.S104F|SLC2A11_ENST00000316185.8_Missense_Mutation_p.S100F|AP000350.10_ENST00000433835.3_Missense_Mutation_p.S62F|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	97						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.S104Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						AGGAAGAAGTCCCTCCTGGTG	0.512000													17	34					0	0	0.007413	0	0
ZAN	7455	broad.mit.edu	37	7	100348407	100348407	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100348407G>A	ENST00000542585.1	+	0	1557				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCTCCTGGGAAGTCCTGCG	0.622000													21	13					0	0	0.010504	0	0
CFHR3	10878	broad.mit.edu	37	1	196757423	196757423	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196757423G>A	ENST00000471440.2	+	4	582	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	CFHR3_ENST00000367425.4_Missense_Mutation_p.E170K|CFHR3_ENST00000391985.3_Intron					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						tttaaataaagaaatacaata	0.294000													19	18					0	0	0.006122	0	0
SNX29	92017	broad.mit.edu	37	16	12618580	12618580	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:12618580C>G	ENST00000566228.1	+	20	2269	c.2200C>G	c.(2200-2202)Cgg>Ggg	p.R734G	SNX29_ENST00000306030.3_Missense_Mutation_p.R349G|SNX29_ENST00000323433.4_Missense_Mutation_p.R349G	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	349					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTGGAGGAACGGAGAAAGCA	0.517000													15	22					0	0	0.002450	0	0
ANO8	57719	broad.mit.edu	37	19	17435527	17435527	+	Splice_Site	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:17435527T>C	ENST00000159087.4	-	17	3488	c.3331_splice	c.e17+1	p.S1110_splice		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1110						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTGTGACCTGAGCCTTCCT	0.697000													4	134					0	0	0.000602	0	0
MARCH2	51257	broad.mit.edu	37	19	8503369	8503369	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:8503369C>T	ENST00000602117.1	+	5	1135	c.680C>T	c.(679-681)cCc>cTc	p.P227L	MARCH2_ENST00000393944.1_Missense_Mutation_p.P227L|MARCH2_ENST00000381035.4_Missense_Mutation_p.P157L|MARCH2_ENST00000215555.2_Missense_Mutation_p.P227L|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	227					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCCGAGGGCCCCCAGCATTCT	0.612000													18	28					0	0	0.004990	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799020	16799020	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:16799020C>T	ENST00000187762.2	+	6	829	c.738C>T	c.(736-738)ccC>ccT	p.P246P		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	246						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACATCTGCCCCGTGCTGTTTG	0.637000													99	174					0	0	0.003610	0	0
SH3TC2	79628	broad.mit.edu	37	5	148420988	148420988	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:148420988G>A	ENST00000515425.1	-	6	823	c.722C>T	c.(721-723)cCt>cTt	p.P241L	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.P234L|SH3TC2_ENST00000394358.2_Missense_Mutation_p.P126L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	241							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAAAGGGAGAGGCAG	0.572000													9	22					0	0	0.004482	0	0
POTED	317754	broad.mit.edu	37	21	14982936	14982936	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:14982936G>A	ENST00000299443.5	+	1	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	129						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCGCCTTCATGGAGCCGAGGT	0.602000													37	56					0	0	0.004289	0	0
CPOX	1371	broad.mit.edu	37	3	98300346	98300346	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:98300346T>C	ENST00000264193.2	-	6	1400	c.1182A>G	c.(1180-1182)gaA>gaG	p.E394E		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	394	Important for dimerization.					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCAGATTAAATTCTACATACC	0.388000													16	31					0	0	0.004990	0	0
SLC1A6	6511	broad.mit.edu	37	19	15075149	15075149	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15075149C>T	ENST00000598504.1	-	7	1932	c.573G>A	c.(571-573)gtG>gtA	p.V191V	SLC1A6_ENST00000544886.2_Silent_p.V191V|SLC1A6_ENST00000221742.3_Silent_p.V191V|SLC1A6_ENST00000430939.2_Silent_p.V127V|SLC1A6_ENST00000600144.1_Silent_p.V191V	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	191					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGCAGGCCTCCACAAGGTTTG	0.483000													105	201					0	0	0.003610	0	0
GHR	2690	broad.mit.edu	37	5	42566007	42566007	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:42566007G>A	ENST00000230882.4	+	2	221	c.31G>A	c.(31-33)Gca>Aca	p.A11T	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A11T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	11					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTGACCTTGGCACTGGCAGG	0.453000													42	68					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10429088	10429088	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:10429088G>A	ENST00000245503.5	-	31	4677	c.4293C>T	c.(4291-4293)gtC>gtT	p.V1431V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1431V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1431					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGGTCCTCGACCTCATTCT	0.537000													52	47					0	0	0.003610	0	0
OR4D2	124538	broad.mit.edu	37	17	56247763	56247763	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56247763G>A	ENST00000545221.1	+	1	747	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGTTTCCATGATCTTCGTTC	0.532000													41	133					0	0	0.013114	0	0
RP1	6101	broad.mit.edu	37	8	55533887	55533887	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:55533887C>T	ENST00000220676.1	+	2	509	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	121					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAAAGCCCGTCGGCGCCC	0.716000													32	21					0	0	0.004289	0	0
TNIK	23043	broad.mit.edu	37	3	170858230	170858230	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:170858230C>T	ENST00000436636.2	-	13	1634	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	TNIK_ENST00000284483.8_Silent_p.Q430Q|TNIK_ENST00000460047.1_Silent_p.Q430Q|TNIK_ENST00000341852.6_Silent_p.Q430Q|TNIK_ENST00000357327.5_Silent_p.Q430Q|TNIK_ENST00000538048.1_Silent_p.Q430Q|TNIK_ENST00000488470.1_Silent_p.Q430Q|TNIK_ENST00000369326.5_Silent_p.Q430Q|TNIK_ENST00000475336.1_Silent_p.Q430Q|TNIK_ENST00000470834.1_Silent_p.Q430Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	430	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCCGGCGCATCTGCTCCTCAT	0.647000													64	126					0	0	0.003610	0	0
GAMT	2593	broad.mit.edu	37	19	1398967	1398967	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1398967G>A	ENST00000447102.3	-	5	611	c.518C>T	c.(517-519)tCc>tTc	p.S173F	GAMT_ENST00000252288.2_Missense_Mutation_p.S173F	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	173					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	CTCCCCCCAGGAGGTGAGGTT	0.607000													21	41					0	0	0.003954	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834048	125834048	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:125834048C>T	ENST00000299308.3	+	2	111	c.103C>T	c.(103-105)Cct>Tct	p.P35S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	35						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCCTCGCTCCCTGCTTACCT	0.478000													66	164					0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142151389	142151389	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:142151389C>T	ENST00000519811.1	+	4	659	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	DENND3_ENST00000518347.1_Missense_Mutation_p.P197S|DENND3_ENST00000424248.1_Missense_Mutation_p.P117S|DENND3_ENST00000262585.2_Missense_Mutation_p.P117S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	117	DENN.							p.P117S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGGTTTCCCTATTACAA	0.587000													75	22					0	0	0.003610	0	0
RSPO3	84870	broad.mit.edu	37	6	127517111	127517111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:127517111C>T	ENST00000356698.4	+	5	1367	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Q260*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	260						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCGAAAAGTCCAAGATAAACA	0.428000													21	15					0	0	0.002299	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224041	43224041	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:43224041C>T	ENST00000255226.6	+	10	2083	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P423S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	423						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCAGACTCCCACTCAGCAA	0.567000													13	127					0	0	0.002450	0	0
TPRG1	285386	broad.mit.edu	37	3	188956652	188956652	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:188956652C>T	ENST00000345063.3	+	4	600	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Missense_Mutation_p.R145C	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	145								p.R145C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGCTGTCTATCGCATCTGCCT	0.498000													38	48					0	0	0.006999	0	0
DCDC1	341019	broad.mit.edu	37	11	31115680	31115680	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:31115680A>T	ENST00000597505.1	-	14	2034	c.2035T>A	c.(2035-2037)Ttc>Atc	p.F679I	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	91					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGCCTGAGAAACTCCACTTT	0.448000													46	17					0	0	0.003610	0	0
WDR11	55717	broad.mit.edu	37	10	122665388	122665388	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:122665388G>A	ENST00000263461.6	+	27	3538	c.3291_splice	c.e27-1	p.V1098_splice	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1098						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCTTTCTCAGGTCCGTTTGAA	0.408000													25	53					0	0	0.004656	0	0
SYNRG	11276	broad.mit.edu	37	17	35898496	35898496	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:35898496T>A	ENST00000339208.6	-	18	3587	c.3447A>T	c.(3445-3447)ttA>ttT	p.L1149F	SYNRG_ENST00000591288.1_Missense_Mutation_p.L943F|SYNRG_ENST00000394378.2_Missense_Mutation_p.L1071F|SYNRG_ENST00000502449.2_Missense_Mutation_p.L1026F|SYNRG_ENST00000345615.4_Missense_Mutation_p.L1071F|SYNRG_ENST00000346661.4_Missense_Mutation_p.L1149F|SYNRG_ENST00000585472.1_Missense_Mutation_p.L1070F	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1149					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGATTCCATTTAAGGTATCAT	0.303000													44	177					0	0	0.003610	0	0
NFXL1	152518	broad.mit.edu	37	4	47886451	47886451	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47886451G>T	ENST00000507489.1	-	15	2004	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	NFXL1_ENST00000381538.3_Missense_Mutation_p.Q610K|NFXL1_ENST00000329043.3_Missense_Mutation_p.Q610K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	610						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCTGTAGGCTGGTGCTACAAA	0.383000													17	18					3.52763e-06	3.85173e-06	0.004990	1	0
FAM64A	54478	broad.mit.edu	37	17	6350797	6350797	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6350797C>T	ENST00000572447.1	+	3	418	c.309C>T	c.(307-309)tcC>tcT	p.S103S	FAM64A_ENST00000576056.1_Silent_p.S103S|FAM64A_ENST00000572595.2_Silent_p.S134S|FAM64A_ENST00000571373.1_Silent_p.S103S|FAM64A_ENST00000570337.2_Silent_p.S103S|FAM64A_ENST00000250056.8_Silent_p.S103S	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	103						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		TCCAGGAGTCCTGCCAAAGTG	0.562000													48	97					0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76592486	76592486	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:76592486G>A	ENST00000307431.8	+	25	4215	c.3830G>A	c.(3829-3831)aGg>aAg	p.R1277K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R1229K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R1205K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R1281K|RP11-58C22.1_ENST00000563764.1_Intron	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1278					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGGCAAAAAGGTCAGAGAAT	0.378000													11	27					0	0	0.008291	0	0
OTUD5	55593	broad.mit.edu	37	X	48780999	48780999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:48780999C>T	ENST00000156084.4	-	8	1565	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E	OTUD5_ENST00000376488.3_Missense_Mutation_p.G497E|OTUD5_ENST00000396743.3_Missense_Mutation_p.G497E|OTUD5_ENST00000428668.2_Missense_Mutation_p.G280E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	502					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCGGTCGGCCCCTGCCGAGAA	0.612000													11	2					0	0	0.008291	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227489	56227489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:56227489G>A	ENST00000341744.3	-	4	803	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	PMEPA1_ENST00000395814.1_Nonsense_Mutation_p.Q112*|PMEPA1_ENST00000265626.4_Nonsense_Mutation_p.Q112*|PMEPA1_ENST00000395816.3_Nonsense_Mutation_p.Q112*|PMEPA1_ENST00000347215.4_Nonsense_Mutation_p.Q127*	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	162					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CAGGGGCCCTGGTAGGGTGGG	0.657000													10	18					0	0	0.006214	0	0
PAN3	255967	broad.mit.edu	37	13	28771364	28771364	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:28771364C>T	ENST00000380958.3	+	5	885	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	PAN3_ENST00000399613.1_Intron	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	245	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAGGCTAGTTCCGATGGGATC	0.483000													13	8					0	0	0.004007	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996330	34996330	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:34996330C>T	ENST00000541010.1	+	2	3292	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	DNAJB5_ENST00000454002.2_Missense_Mutation_p.P166S|DNAJB5_ENST00000453597.3_Missense_Mutation_p.P208S|DNAJB5_ENST00000312316.5_Missense_Mutation_p.P94S|DNAJB5_ENST00000335998.3_Missense_Mutation_p.P128S|DNAJB5_ENST00000545841.1_Missense_Mutation_p.P94S			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	94					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCATGGGGACCCCCATGCCAC	0.592000													15	18					0	0	0.006122	0	0
SUMO3	6612	broad.mit.edu	37	21	46226855	46226855	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:46226855G>A	ENST00000397898.3	-	4	455	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	SUMO3_ENST00000411651.2_3'UTR|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_3'UTR			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CCCGGGCTGGGGACGGGCCCT	0.617000													5	25					0	0	0.001168	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776364	31776364	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:31776364G>A	ENST00000382902.1	-	11	2027	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	OTUD7A_ENST00000307050.4_Silent_p.A638A			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	638						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCAGCAGGCCGGCGAAGATGA	0.667000													4	20					0	0	0.001168	0	0
GPR158	57512	broad.mit.edu	37	10	25886965	25886965	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:25886965G>A	ENST00000376351.3	+	11	2769	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	804						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAATCCAAGGAGGAGACCCT	0.537000													25	47					0	0	0.003330	0	0
FAT3	120114	broad.mit.edu	37	11	92086820	92086820	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086820G>A	ENST00000298047.6	+	1	1559	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	FAT3_ENST00000525166.1_Silent_p.L364L|FAT3_ENST00000409404.2_Silent_p.L514L|FAT3_ENST00000541502.1_Silent_p.L514L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	514	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGCTAGCCTGAATTTGTTAC	0.378000										TCGA Ovarian(4;0.039)			360	124					0	0	0.003610	0	0
ATG2A	23130	broad.mit.edu	37	11	64664943	64664943	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:64664943G>A	ENST00000421419.2	-	37	5211	c.5097C>T	c.(5095-5097)atC>atT	p.I1699I	ATG2A_ENST00000377264.3_Silent_p.I1697I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1697							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCAGGCCGATGAGGAGGC	0.632000													9	4					0	0	0.006214	0	0
SLC52A3	113278	broad.mit.edu	37	20	741707	741707	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:741707G>A	ENST00000217254.7	-	5	1614	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_3'UTR	NM_033409.3	NP_212134.3	Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	458					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GTCCGCGGACGAGAAGAGCCG	0.687000													4	6					0	0	0.000602	0	0
OR5B12	390191	broad.mit.edu	37	11	58206830	58206830	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:58206830G>A	ENST00000302572.2	-	1	816	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGCCCATGAAATGGCTGG	0.453000													26	5					0	0	0.005443	0	0
ZNF761	388561	broad.mit.edu	37	19	53952800	53952800	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:53952800C>T	ENST00000454407.1	+	0	504							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCATAGAATTCTCTCAGGAGG	0.448000													30	58					0	0	0.009718	0	0
CCR5	1234	broad.mit.edu	37	3	46414630	46414630	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46414630C>T	ENST00000343801.4	+	3	594	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCR5_ENST00000445772.1_Silent_p.F79F|CCR5_ENST00000292303.4_Silent_p.F79F|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	79					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGTTTTTCCTTCTTACTG	0.483000													67	131					0	0	0.003610	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76970772	76970772	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76970772T>C	ENST00000262776.3	-	4	682	c.374A>G	c.(373-375)aAt>aGt	p.N125S	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.N125S|LGALS3BP_ENST00000585407.1_Missense_Mutation_p.N125S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	125					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGCTCACCATTGGTGCAGAC	0.692000													12	15					0	0	0.001855	0	0
PARD3B	117583	broad.mit.edu	37	2	206480477	206480477	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:206480477C>T	ENST00000406610.2	+	23	3765	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	PARD3B_ENST00000358768.2_Silent_p.D1124D|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Silent_p.D1117D|PARD3B_ENST00000349953.3_Silent_p.D1085D	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1186					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGCCCAGACCAGTACCCTT	0.617000													34	53					0	0	0.004289	0	0
KCNT2	343450	broad.mit.edu	37	1	196438186	196438186	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196438186C>T	ENST00000367433.5	-	6	498	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E133K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E133K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAATCTGTTCCCAGATGTTT	0.338000													7	15					0	0	0.004482	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531876	6531876	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6531876G>A	ENST00000361413.3	-	3	637	c.279C>T	c.(277-279)tcC>tcT	p.S93S	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	93						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCTCTCTTGGGATATGACGG	0.398000													26	55					0	0	0.003954	0	0
STAB2	55576	broad.mit.edu	37	12	104015856	104015856	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:104015856G>A	ENST00000388887.2	+	5	658	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	152				D -> A (in Ref. 5; BAD18723).	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCTGTGCTGACGACAACTT	0.473000													17	37					0	0	0.008871	0	0
VGLL4	9686	broad.mit.edu	37	3	11643404	11643404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:11643404G>A	ENST00000273038.3	-	3	522	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.P59S|VGLL4_ENST00000404339.1_Missense_Mutation_p.P58S	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTCTTGCTGGGGCTGATTGGG	0.602000													30	52					0	0	0.003755	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139523	3139523	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3139523C>T	ENST00000252463.2	-	5	1834	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.E244K|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E501K	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	583					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TCACCGCACTCGCTGCAGCGG	0.706000													5	10					0	0	0.001168	0	0
TTLL4	9654	broad.mit.edu	37	2	219617635	219617635	+	Silent	SNP	A	A	T	rs139732351		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:219617635A>T	ENST00000392102.1	+	17	3466	c.3126A>T	c.(3124-3126)ccA>ccT	p.P1042P	TTLL4_ENST00000258398.4_Silent_p.P1042P|TTLL4_ENST00000442769.1_Silent_p.P978P|TTLL4_ENST00000457313.1_Silent_p.P877P	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1042					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTGAGCAGCCACGATATTTCA	0.453000													12	98					0	0	0.003163	0	0
SNX33	257364	broad.mit.edu	37	15	75942805	75942805	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75942805G>A	ENST00000308527.5	+	1	2559	c.1362G>A	c.(1360-1362)ggG>ggA	p.G454G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	454	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AAGCCATCGGGGAGATGTTTG	0.552000													44	82					0	0	0.010771	0	0
CIT	11113	broad.mit.edu	37	12	120173010	120173010	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:120173010G>A	ENST00000392521.2	-	25	3166	c.3111C>T	c.(3109-3111)cgC>cgT	p.R1037R	CIT_ENST00000261833.7_Silent_p.R995R|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	995					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGATCTCCCGGCGGAGATGGT	0.488000													37	63					0	0	0.005524	0	0
TRIM46	80128	broad.mit.edu	37	1	155154622	155154622	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:155154622C>T	ENST00000368382.1	+	9	1951	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	TRIM46_ENST00000334634.4_Missense_Mutation_p.P628L|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.P628L|TRIM46_ENST00000545012.1_Missense_Mutation_p.P502L|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	628	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGATCAGCCCCAGGTCAGAC	0.637000													8	33					0	0	0.004482	0	0
POFUT2	23275	broad.mit.edu	37	21	46685454	46685454	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:46685454G>A	ENST00000349485.5	-	9	1259	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	411					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTCTCCGCAGAACCTGTTGT	0.557000													27	42					0	0	0.006320	0	0
CCR2	729230	broad.mit.edu	37	3	46399759	46399759	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46399759C>T	ENST00000292301.4	+	2	1226	c.741C>T	c.(739-741)acC>acT	p.T247T	CCR2_ENST00000400888.2_Silent_p.T247T|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.T247T	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	247					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCATCTTCACCATCATGATTG	0.468000													71	102					0	0	0.003610	0	0
PALM2	114299	broad.mit.edu	37	9	112704975	112704975	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:112704975C>T	ENST00000448454.2	+	8	512	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.A135V|PALM2_ENST00000374531.2_Missense_Mutation_p.A137V|PALM2_ENST00000314527.4_Missense_Mutation_p.A169V|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCTGTGTACGCCATGGAAATT	0.398000													5	5					0	0	0.000602	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	56					0	0	0.009096	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385909	21385909	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:21385909C>T	ENST00000382932.2	-	2	260	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SLC7A4_ENST00000403586.1_Missense_Mutation_p.E65K|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	65					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGCCACCTCCTTGGCCACG	0.657000													5	23					0	0	0.001984	0	0
SETD5	55209	broad.mit.edu	37	3	9490114	9490114	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:9490114G>A	ENST00000402466.1	+	17	2620	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SETD5_ENST00000406341.1_Missense_Mutation_p.E716K|SETD5_ENST00000402198.1_Missense_Mutation_p.E716K|SETD5_ENST00000407969.1_Missense_Mutation_p.E735K|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Missense_Mutation_p.E618K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	716										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAGAAGCAAGAGTGCCCTGT	0.398000													18	33					0	0	0.008871	0	0
ARF1	375	broad.mit.edu	37	1	228285396	228285396	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:228285396C>T	ENST00000541182.1	+	4	626	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	ARF1_ENST00000272102.5_Silent_p.L122L|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.L122L	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	122					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGCTGTCCTCCTGGTGTTCGC	0.632000													40	21					0	0	0.009718	0	0
RPTN	126638	broad.mit.edu	37	1	152129266	152129266	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152129266C>T	ENST00000316073.3	-	3	373	c.309G>A	c.(307-309)agG>agA	p.R103R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	103	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTCCTGCCCCCTTTCTTGCT	0.502000													189	119					0	0	0.003610	0	0
TPPP2	122664	broad.mit.edu	37	14	21499185	21499185	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21499185G>A	ENST00000321760.6	+	3	336	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	TPPP2_ENST00000530140.2_Missense_Mutation_p.R63Q|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Missense_Mutation_p.R63Q	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	63						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGAACGCCCGAACCATCACG	0.483000													21	37					0	0	0.003954	0	0
BPIFB4	149954	broad.mit.edu	37	20	31678582	31678582	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:31678582G>A	ENST00000375483.3	+	8	1120	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	374						cytoplasm|extracellular region	lipid binding										TGTGACCGGGGAATTCCTGGA	0.607000													15	26					0	0	0.004007	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287443	29287443	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:29287443G>A	ENST00000266943.6	-	3	803	c.434C>T	c.(433-435)aCc>aTc	p.T145I	SLC46A3_ENST00000380814.4_Missense_Mutation_p.T145I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	145					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCAAAATGTGGTATAATTGCC	0.383000													12	15					0	0	0.003163	0	0
ALOX12B	242	broad.mit.edu	37	17	7989535	7989535	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7989535C>T	ENST00000319144.4	-	2	411	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	51	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GTGTACTGGCCCACCTAGGCA	0.647000										Multiple Myeloma(8;0.094)			8	12					0	0	0.004482	0	0
TMEM187	8269	broad.mit.edu	37	X	153247741	153247741	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:153247741C>T	ENST00000369982.4	+	2	975	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	76						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGGGCGGCGCGATGGGGC	0.697000													43	8					0	0	0.007835	0	0
DUOX2	50506	broad.mit.edu	37	15	45396185	45396185	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:45396185G>A	ENST00000389039.6	-	20	3012	c.2627C>T	c.(2626-2628)tCc>tTc	p.S876F	DUOX2_ENST00000603300.1_Missense_Mutation_p.S876F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	876	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTCGTCCTTGGAGAGGAAGCC	0.483000													21	24					0	0	0.002299	0	0
CENPI	2491	broad.mit.edu	37	X	100387214	100387214	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:100387214G>A	ENST00000372927.1	+	13	1600	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	CENPI_ENST00000372926.1_Silent_p.K441K|CENPI_ENST00000218507.5_Silent_p.K441K|CENPI_ENST00000423383.1_Silent_p.K441K	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	441					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCCTGTATAAGAGCCTTCCTC	0.398000													176	25					0	0	0.003610	0	0
ZNF205	7755	broad.mit.edu	37	16	3165537	3165537	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3165537C>T	ENST00000382192.3	+	3	444	c.239C>T	c.(238-240)tCt>tTt	p.S80F	ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.S80F	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGTCACGGCTCTAAGGAGAAA	0.637000													14	12					0	0	0.002450	0	0
DENND5B	160518	broad.mit.edu	37	12	31586121	31586121	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:31586121C>T	ENST00000389082.5	-	8	2338	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	DENND5B_ENST00000354285.4_Missense_Mutation_p.E714K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E727K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E727K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	692						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAACATGCTCAGAATGCTGG	0.502000													38	105					0	0	0.006999	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744896	87744896	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:87744896G>A	ENST00000273905.6	-	6	1226	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	360						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GCAATCCATTGGCCCTGGTGG	0.542000													20	26					0	0	0.008871	0	0
WDR78	79819	broad.mit.edu	37	1	67299708	67299708	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:67299708G>A	ENST00000371026.3	-	12	1912	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	WDR78_ENST00000431318.1_Silent_p.S365S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	619										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAACCCATTTGGAGATTCTTC	0.348000													19	39					0	0	0.010504	0	0
PROX2	283571	broad.mit.edu	37	14	75329969	75329969	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:75329969C>T	ENST00000556084.2	-	1	568	c.569G>A	c.(568-570)gGt>gAt	p.G190D	PROX2_ENST00000445876.1_Missense_Mutation_p.G190D|PROX2_ENST00000556489.2_Missense_Mutation_p.G190D	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTGGTGGTCACCGTCCACAAC	0.602000													11	29					0	0	0.010729	0	0
MAST4	375449	broad.mit.edu	37	5	66460381	66460381	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:66460381G>A	ENST00000404260.3	+	29	5691	c.5383G>A	c.(5383-5385)Ggt>Agt	p.G1795S	MAST4_ENST00000261569.7_Missense_Mutation_p.G1598S|MAST4_ENST00000403666.1_Missense_Mutation_p.G1603S|MAST4_ENST00000403625.2_Missense_Mutation_p.G1792S|MAST4_ENST00000405643.1_Missense_Mutation_p.G1613S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1795						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)		TAAGCTGGAAGGTAGGTCTGT	0.587000													39	59					0	0	0.005524	0	0
ELAC2	60528	broad.mit.edu	37	17	12898332	12898332	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12898332G>A	ENST00000338034.4	-	20	2095	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	ELAC2_ENST00000426905.3_Missense_Mutation_p.P579L|ELAC2_ENST00000395962.2_Missense_Mutation_p.P600L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	619					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTCCACTGCAGGACTGGAGAT	0.478000													88	149					0	0	0.003610	0	0
SEPT5	5413	broad.mit.edu	37	22	19709347	19709347	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:19709347G>A	ENST00000455784.2	+	10	942	c.817G>A	c.(817-819)Gag>Aag	p.E273K	SEPT5_ENST00000438754.2_Intron|SEPT5_ENST00000383045.3_Missense_Mutation_p.E282K|SEPT5_ENST00000406395.1_Intron	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	273					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCCCGCAGTGGAGAACCAGGC	0.632000													20	40					0	0	0.002299	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959628	16959628	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:16959628G>A	ENST00000412962.1	-	0	74																											CACCCACCAGGGACCCTCCTG	0.602000													4	39					0	0	0.008291	0	0
SPAM1	6677	broad.mit.edu	37	7	123595117	123595117	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:123595117A>G	ENST00000340011.5	+	4	1378	c.1021A>G	c.(1021-1023)Acc>Gcc	p.T341A	SPAM1_ENST00000223028.7_Missense_Mutation_p.T341A|SPAM1_ENST00000460182.1_Missense_Mutation_p.T341A|SPAM1_ENST00000439500.1_Missense_Mutation_p.T341A|SPAM1_ENST00000402183.2_Missense_Mutation_p.T341A	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	341					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATATGGGGAACCCTCAGTAT	0.343000													63	94					0	0	0.003610	0	0
AFF1	4299	broad.mit.edu	37	4	88052973	88052973	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:88052973G>T	ENST00000307808.6	+	17	3529	c.3109G>T	c.(3109-3111)Gat>Tat	p.D1037Y	AFF1_ENST00000395146.4_Missense_Mutation_p.D1044Y|AFF1_ENST00000544085.1_Missense_Mutation_p.D675Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1037						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATCCTTCTCAGATGCCACAGC	0.313000													11	19					0.00244969	0.00266346	0.002450	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95519289	95519289	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:95519289C>T	ENST00000432432.2	-	0	424					NR_040113.1																						ATACCTGTATCAAAGGCGTTC	0.368000													65	193					0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1544387	1544387	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:1544387C>T	ENST00000345913.4	+	16	2731	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S	TPO_ENST00000346956.3_Silent_p.S836S|TPO_ENST00000382198.1_Silent_p.S707S|TPO_ENST00000349624.3_Silent_p.S707S|TPO_ENST00000382201.3_Silent_p.S823S|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000329066.4_Silent_p.S880S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	880					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACTAAATCCACACTGCCCA	0.637000													24	43					0	0	0.003954	0	0
FLG2	388698	broad.mit.edu	37	1	152324979	152324979	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152324979G>A	ENST00000388718.5	-	3	5355	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1761							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAACTATGGATTCTGACT	0.498000													167	216					0	0	0.003610	0	0
PFAS	5198	broad.mit.edu	37	17	8158942	8158942	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:8158942C>T	ENST00000314666.6	+	5	640	c.507C>T	c.(505-507)ccC>ccT	p.P169P	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	169					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCCGGAACCCCTCAATGGCC	0.597000													18	22					0	0	0.007413	0	0
SDE2	163859	broad.mit.edu	37	1	226175944	226175944	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:226175944G>A	ENST00000272091.7	-	6	805	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	SDE2_ENST00000366817.1_Missense_Mutation_p.P168S	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		GAACCACTGGGAAATTTGGCT	0.478000													109	203					0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155253658	155253658	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:155253658T>C	ENST00000357232.3	-	9	2204	c.2205A>G	c.(2203-2205)ggA>ggG	p.G735G	DCHS2_ENST00000339452.1_Silent_p.G1234G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	735	Cadherin 6.				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)		TGAAGAATTTTCCATCAGACA	0.378000													23	37					0	0	0.002780	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612222	44612222	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44612222C>T	ENST00000273320.3	+	6	2049	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.D540D|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATCTCATTGACCATCAGAGAA	0.448000													55	55					0	0	0.003610	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546535	2546535	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2546535C>T	ENST00000567020.1	+	2	526	c.386C>T	c.(385-387)tCc>tTc	p.S129F	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.S129F|TBC1D24_ENST00000293970.5_Missense_Mutation_p.S129F|TBC1D24_ENST00000434757.2_Missense_Mutation_p.S129F	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	129	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCCGACATCTCCTTCTGCCCC	0.667000													13	44					0	0	0.003163	0	0
RXFP3	51289	broad.mit.edu	37	5	33937921	33937921	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:33937921T>A	ENST00000330120.3	+	1	1431	c.1076T>A	c.(1075-1077)tTc>tAc	p.F359Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	359						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCGGTGCCCTTCAGCCAGGAG	0.577000													35	54					0	0	0.002836	0	0
C8B	732	broad.mit.edu	37	1	57431619	57431619	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57431619C>T	ENST00000371237.4	-	1	69	c.3G>A	c.(1-3)atG>atA	p.M1I	C8B_ENST00000543257.1_5'UTR|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|RP5-1103B4.3_ENST00000417420.1_RNA	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	1					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGAATTCTTCATTTTCCCAA	0.542000													40	38					0	0	0.007835	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508121	106508121	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:106508121C>T	ENST00000359195.3	+	2	425	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P39S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P39S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	39					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGAGCTCATCCCCATCGAGTT	0.647000													41	61					0	0	0.006999	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057130	72057130	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:72057130T>C	ENST00000378743.3	-	1	619	c.261A>G	c.(259-261)tcA>tcG	p.S87S	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.S87S|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.S87S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	87	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCGCGAGCGTGAGAAATTCC	0.652000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	81					0	0	0.013114	0	0
LILRA2	11027	broad.mit.edu	37	19	55087289	55087289	+	Missense_Mutation	SNP	G	G	A	rs149720719	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55087289G>A	ENST00000251377.3	+	7	1101	c.968G>A	c.(967-969)aGa>aAa	p.R323K	LILRA2_ENST00000391738.3_Missense_Mutation_p.R323K|LILRA2_ENST00000251376.3_Missense_Mutation_p.R323K|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.R311K|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TTCTATGACAGACCCTCTCTC	0.597000													7	10					0	0	0.003080	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178457	42178457	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:42178457C>T	ENST00000320955.6	-	7	1223	c.996G>A	c.(994-996)cgG>cgA	p.R332R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	332					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGAAAATCCCGCGCCTCCA	0.627000													6	22					0	0	0.003080	0	0
DMKN	93099	broad.mit.edu	37	19	36003654	36003654	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36003654A>G	ENST00000339686.3	-	2	641	c.465T>C	c.(463-465)ggT>ggC	p.G155G	DMKN_ENST00000418261.1_Silent_p.G155G|DMKN_ENST00000419602.1_Silent_p.G155G|DMKN_ENST00000424570.2_Silent_p.G155G|DMKN_ENST00000447113.2_Silent_p.G155G|DMKN_ENST00000451297.2_Silent_p.G155G|DMKN_ENST00000440396.1_Silent_p.G155G|DMKN_ENST00000429837.1_Silent_p.G155G	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	155	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCAAGGCCACCTTGAGAGC	0.572000													15	28					0	0	0.002450	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047192	23047192	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:23047192C>T	ENST00000390307.2	+	0	294																											CCTGGAATCCCTGAACGATTC	0.542000													21	24					0	0	0.012319	0	0
ZNF550	162972	broad.mit.edu	37	19	58058694	58058694	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58058694A>T	ENST00000325134.5	-	3	978	c.822T>A	c.(820-822)aaT>aaA	p.N274K	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.N306K|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.N265K			Q7Z398	ZN550_HUMAN	zinc finger protein 550	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGTCCTATTATGGCGAA	0.463000													30	51					0	0	0.012213	0	0
SUPT6H	6830	broad.mit.edu	37	17	27023945	27023945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27023945C>T	ENST00000314616.6	+	30	4337	c.4054C>T	c.(4054-4056)Cag>Tag	p.Q1352*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1352*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1352	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GACCATGGACCAGGGTGATGT	0.483000													22	55					0	0	0.012319	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478254	42478254	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:42478254G>A	ENST00000434000.1	-	9	1239	c.957C>T	c.(955-957)atC>atT	p.I319I	GPATCH8_ENST00000591680.1_Silent_p.I397I			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	397						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCTGGGGGGATGTAGTGGT	0.433000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	86					0	0	0.009718	0	0
CXXC5	51523	broad.mit.edu	37	5	139060873	139060873	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:139060873C>T	ENST00000302517.3	+	2	1479	c.765C>T	c.(763-765)tcC>tcT	p.S255S	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.S255S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCAGCTCCGGCAAGAAGA	0.642000													24	56					0	0	0.003330	0	0
UPB1	51733	broad.mit.edu	37	22	24919669	24919669	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24919669C>T	ENST00000413389.2	+	9	2388	c.795C>T	c.(793-795)agC>agT	p.S265S	UPB1_ENST00000326010.5_Silent_p.S333S|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	333	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGTCCCGTAGCCGGGATGGAC	0.547000													50	58					0	0	0.003610	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964868	119964868	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:119964868C>T	ENST00000543831.1	+	4	993	c.744C>T	c.(742-744)gtC>gtT	p.V248V	HSD3B2_ENST00000369416.3_Silent_p.V248V	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	248					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CCCCAAGTGTCCGAGGTCAAT	0.512000													20	41					0	0	0.007413	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86852176	86852176	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:86852176G>A	ENST00000264343.4	+	1	751	c.93G>A	c.(91-93)cgG>cgA	p.R31R	ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000503995.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	0	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAATCAAACGGTGTTTTAGTT	0.398000													36	49					0	0	0.005524	0	0
SZT2	23334	broad.mit.edu	37	1	43905671	43905671	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:43905671G>A	ENST00000562955.1	+	50	6991	c.6991G>A	c.(6991-6993)Gag>Aag	p.E2331K	SZT2_ENST00000372442.1_Missense_Mutation_p.E1489K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2388						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCATCATCGAGCTTCAGCT	0.547000													32	51					0	0	0.004878	0	0
VIL1	7429	broad.mit.edu	37	2	219294156	219294156	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:219294156C>T	ENST00000248444.5	+	7	804	c.716C>T	c.(715-717)gCc>gTc	p.A239V	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.A239V	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	239	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAAGGCGGCCGTGCCCGAC	0.632000													24	34					0	0	0.003954	0	0
YPEL1	29799	broad.mit.edu	37	22	22065004	22065004	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:22065004G>A	ENST00000339468.3	-	2	413	c.30C>T	c.(28-30)ttC>ttT	p.F10F	YPEL1_ENST00000403503.1_Silent_p.F10F	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	10						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GATACGCTTGGAAAGTTTTGG	0.532000													50	119					0	0	0.003610	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603630	28603630	+	Silent	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:28603630G>C	ENST00000533150.1	-	3	1746	c.630C>G	c.(628-630)gtC>gtG	p.V210V	SULT1A2_ENST00000335715.4_Silent_p.V243V|SULT1A2_ENST00000395630.1_Silent_p.V243V			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	243					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						ACTCCCGGCGGACGGTGGTGT	0.602000													45	98					0	0	0.003610	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996329	34996329	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:34996329C>T	ENST00000541010.1	+	2	3291	c.279C>T	c.(277-279)gaC>gaT	p.D93D	DNAJB5_ENST00000454002.2_Silent_p.D165D|DNAJB5_ENST00000453597.3_Silent_p.D207D|DNAJB5_ENST00000312316.5_Silent_p.D93D|DNAJB5_ENST00000335998.3_Silent_p.D127D|DNAJB5_ENST00000545841.1_Silent_p.D93D			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	93					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCATGGGGACCCCCATGCCA	0.597000													15	18					0	0	0.004007	0	0
ZNF17	7565	broad.mit.edu	37	19	57931051	57931051	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57931051T>C	ENST00000307658.7	+	4	460	c.197T>C	c.(196-198)gTt>gCt	p.V66A	ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.V64A|AC003002.6_ENST00000596400.1_Missense_Mutation_p.76_76insA|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AAGCAATGTGTTTCTGTAGGA	0.488000													18	33					0	0	0.008871	0	0
KRT76	51350	broad.mit.edu	37	12	53170560	53170560	+	Silent	SNP	G	G	A	rs146014128		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:53170560G>A	ENST00000332411.2	-	1	569	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	172	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGGGGGTCGATCTCCACAT	0.557000													27	41					0	0	0.009535	0	0
ZNF143	7702	broad.mit.edu	37	11	9519272	9519272	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:9519272C>T	ENST00000396602.2	+	10	1011	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	ZNF143_ENST00000396604.1_Missense_Mutation_p.R297W|ZNF143_ENST00000396597.3_Missense_Mutation_p.R267W|ZNF143_ENST00000530463.1_Missense_Mutation_p.R297W|ZNF143_ENST00000299606.2_Missense_Mutation_p.R270W	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	298					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAAGCCATATCGGTGTTCGGA	0.328000													32	9					0	0	0.004289	0	0
ASAH2	56624	broad.mit.edu	37	10	52002997	52002997	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:52002997C>T	ENST00000395526.3	-	3	474	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ASAH2_ENST00000447815.1_Missense_Mutation_p.D159N|ASAH2_ENST00000329428.6_Missense_Mutation_p.D140N	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	159					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						ATGCCTATGTCGATGCTGACA	0.468000													41	88					0	0	0.010771	0	0
DNAH8	1769	broad.mit.edu	37	6	38771046	38771046	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:38771046T>C	ENST00000359357.3	+	20	2596	c.2342T>C	c.(2341-2343)aTt>aCt	p.I781T	DNAH8_ENST00000441566.1_Missense_Mutation_p.I781T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I998T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAGCAGATTTATGAAGTG	0.343000													11	39					0	0	0.008291	0	0
GDF5	8200	broad.mit.edu	37	20	34022071	34022071	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34022071C>T	ENST00000374372.1	-	4	1645	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R381Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R39C			P43026	GDF5_HUMAN	growth differentiation factor 5	381					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R39S(2)|p.R381L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGTGGGGCCCGCCGTTTTCG	0.577000													41	94					0	0	0.003610	0	0
PFKFB1	5207	broad.mit.edu	37	X	54960284	54960284	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:54960284C>T	ENST00000375006.3	-	13	1396	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PFKFB1_ENST00000545676.1_Silent_p.E377E|PFKFB1_ENST00000374992.2_Silent_p.E242E	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	442	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGTTCACGGCCTCCACATTCA	0.542000													50	6					0	0	0.003610	0	0
FERMT2	10979	broad.mit.edu	37	14	53347814	53347814	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:53347814C>T	ENST00000395631.2	-	6	1011	c.795G>A	c.(793-795)aaG>aaA	p.K265K	FERMT2_ENST00000341590.3_Silent_p.K265K|FERMT2_ENST00000553373.1_Silent_p.K265K|FERMT2_ENST00000399304.3_Silent_p.K265K|FERMT2_ENST00000343279.4_Silent_p.K265K			Q96AC1	FERM2_HUMAN	fermitin family member 2	265	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CCTCATTTTCCTTCACATCTT	0.378000													15	15					0	0	0.006122	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:77353924G>A	ENST00000282849.5	-	16	2772	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTAACTGGAGGAAACCTGCAG	0.537000													18	35					0	0	0.006122	0	0
ZNF716	441234	broad.mit.edu	37	7	57529081	57529081	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:57529081T>A	ENST00000420713.1	+	4	1026	c.914T>A	c.(913-915)tTt>tAt	p.F305Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGCAAAGCCTTTAGCCGCTCT	0.428000													30	35					0	0	0.006320	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184787	69184787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:69184787C>T	ENST00000563094.1	+	8	1016	c.982C>T	c.(982-984)Cga>Tga	p.R328*	CIRH1A_ENST00000314423.7_Nonsense_Mutation_p.R328*|CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.R328*			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCCGCTCTCCGAAAAATCAC	0.532000													22	46					0	0	0.010504	0	0
PM20D1	148811	broad.mit.edu	37	1	205819062	205819062	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:205819062C>T	ENST00000367136.4	-	1	183	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	47						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGACGCGTTCCTCTTTGCTG	0.592000													20	85					0	0	0.012319	0	0
ABCA4	24	broad.mit.edu	37	1	94466457	94466457	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94466457G>A	ENST00000370225.3	-	47	6500	c.6414C>T	c.(6412-6414)acC>acT	p.T2138T	ABCA4_ENST00000535881.1_Silent_p.T257T|ABCA4_ENST00000536513.1_Silent_p.T408T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2138	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGCCAGCCGGGTACACAGTG	0.577000													24	45					0	0	0.003954	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515705	47515705	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:47515705G>A	ENST00000371901.3	+	12	1639	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	CYP4X1_ENST00000538609.1_Silent_p.E462E	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	463						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATGATTGAGTTAAAGGTAA	0.428000													44	71					0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5215357	5215357	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:5215357G>A	ENST00000372412.4	-	28	4497	c.4264C>T	c.(4264-4266)Cgc>Tgc	p.R1422C	PTPRS_ENST00000353284.2_Missense_Mutation_p.R974C|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1401C|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1421C|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1383C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1421C|PTPRS_ENST00000592099.1_Missense_Mutation_p.R974C|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1383C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1421	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCATAGCGGTTCTTCGGC	0.572000													32	60					0	0	0.009535	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734291	28734291	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:28734291G>A	ENST00000550043.1	+	0	696																											CTGGCCATCGGATTGGGGATC	0.463000													15	19					0	0	0.004007	0	0
AEBP1	165	broad.mit.edu	37	7	44152207	44152207	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:44152207C>T	ENST00000223357.3	+	18	2573	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	AEBP1_ENST00000450684.2_Silent_p.F331F	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	756	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAACCCCTTCGTGCTGGGAG	0.642000													27	57					0	0	0.009535	0	0
CACNA1D	776	broad.mit.edu	37	3	53835248	53835248	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:53835248C>T	ENST00000288139.3	+	43	5382	c.5264C>T	c.(5263-5265)tCg>tTg	p.S1755L	CACNA1D_ENST00000544977.1_Missense_Mutation_p.S114L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1735L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1720L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1735					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGGAAATTCGGTGTGTCAT	0.468000													29	43					0	0	0.007291	0	0
PDGFRB	5159	broad.mit.edu	37	5	149498406	149498406	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149498406G>A	ENST00000261799.4	-	21	3277	c.2808C>T	c.(2806-2808)atC>atT	p.I936I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	936	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTCTGCATGATCTCATAGC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								22	54					0	0	0.012319	0	0
MPP7	143098	broad.mit.edu	37	10	28413985	28413985	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:28413985C>T	ENST00000337532.5	-	8	759	c.483G>A	c.(481-483)gcG>gcA	p.A161A	MPP7_ENST00000375719.3_Silent_p.A161A|MPP7_ENST00000375732.1_Silent_p.A161A|MPP7_ENST00000445954.2_Silent_p.A36A|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Silent_p.A161A	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	161	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCACAATGATCGCCCCGGTCT	0.423000													33	52					0	0	0.006230	0	0
GRID2	2895	broad.mit.edu	37	4	94376916	94376916	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:94376916G>A	ENST00000282020.4	+	11	1907	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	GRID2_ENST00000510992.1_Missense_Mutation_p.R455Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550					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	p.R550Q(1)		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)	GTACTACTTCGAAGGGCTGAA	0.483000													30	64					0	0	0.009535	0	0
KDM5C	8242	broad.mit.edu	37	X	53243945	53243945	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:53243945G>A	ENST00000452825.3	-	6	1379	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	KDM5C_ENST00000375383.3_Missense_Mutation_p.H309Y|KDM5C_ENST00000375401.3_Missense_Mutation_p.H350Y|KDM5C_ENST00000375379.3_Missense_Mutation_p.H350Y|KDM5C_ENST00000404049.3_Missense_Mutation_p.H349Y	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	350					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGAAGATGTGGTAGTTGTCA	0.567000			"""N, F, S"""		clear cell renal carcinoma								38	5					0	0	0.008740	0	0
LIMA1	51474	broad.mit.edu	37	12	50571449	50571449	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50571449C>T	ENST00000547825.1	-	5	2041	c.772G>A	c.(772-774)Gac>Aac	p.D258N	LIMA1_ENST00000552823.1_Missense_Mutation_p.D400N|LIMA1_ENST00000552491.1_Missense_Mutation_p.D257N|LIMA1_ENST00000552783.1_Missense_Mutation_p.D401N|LIMA1_ENST00000552909.1_Missense_Mutation_p.D399N|LIMA1_ENST00000341247.4_Missense_Mutation_p.D560N|LIMA1_ENST00000394943.3_Missense_Mutation_p.D561N	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	560					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTGATTTCGTCTTCAGGAGGC	0.507000													44	83					0	0	0.013114	0	0
RNF157	114804	broad.mit.edu	37	17	74155521	74155521	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74155521G>A	ENST00000269391.6	-	12	1331	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	RNF157_ENST00000319945.6_Missense_Mutation_p.S400L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	400							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTGCCATATGAAGGGAGCAT	0.592000													60	41					0	0	0.003610	0	0
MAP4K4	9448	broad.mit.edu	37	2	102499089	102499089	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:102499089G>A	ENST00000413150.2	+	24	2827	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	MAP4K4_ENST00000456652.1_Silent_p.E808E|MAP4K4_ENST00000425019.1_Silent_p.E1042E|MAP4K4_ENST00000324219.4_Silent_p.E1090E|MAP4K4_ENST00000302217.5_Silent_p.E812E|MAP4K4_ENST00000347699.4_Silent_p.E1009E|MAP4K4_ENST00000350878.4_Silent_p.E1049E|MAP4K4_ENST00000350198.4_Silent_p.E928E	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1009	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAAGTTGAGAAGAAGCAGG	0.338000													38	60					0	0	0.008740	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458979C>T	ENST00000548424.1	+	0	448																											CCTTGTATTTCCCCAGCTCAT	0.433000													3	14					0	0	0.004672	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333888	37333888	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:37333888G>A	ENST00000262825.5	+	14	2273	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	CSF2RB_ENST00000403662.3_Missense_Mutation_p.G680R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G627R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G686R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	680					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCTGCTCTTGGGCCAAGGGT	0.657000													14	16					0	0	0.002450	0	0
KRT10	3858	broad.mit.edu	37	17	38975816	38975816	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38975816C>A	ENST00000269576.5	-	6	1335	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	442	Coil 2.|Gly-rich.|Rod.		L -> Q (in BCIE; dbSNP:rs58026994).		epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTCATTCTCCAGTCGGATCT	0.408000													66	51					5.40308e-56	5.99695e-56	0.003610	1	0
SMYD1	150572	broad.mit.edu	37	2	88384003	88384003	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:88384003G>A	ENST00000419482.2	+	2	391	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SMYD1_ENST00000444564.2_Silent_p.E102E|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCCCAATGAGAACATCAGGT	0.507000													20	24					0	0	0.008871	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	92					0	0	0.009096	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323205	79323205	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:79323205C>T	ENST00000428286.1	-	8	4108	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1329K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1329					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCTGGGCTTCCTTCTCACTT	0.527000													20	16					0	0	0.012319	0	0
CHML	1122	broad.mit.edu	37	1	241797921	241797921	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:241797921C>T	ENST00000366553.1	-	1	1311	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	383					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGGAATTTCTCCTTGGCCATA	0.423000													22	73					0	0	0.010504	0	0
UROC1	131669	broad.mit.edu	37	3	126226912	126226912	+	Silent	SNP	C	C	T	rs139167502	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:126226912C>T	ENST00000290868.2	-	5	491	c.438G>A	c.(436-438)tcG>tcA	p.S146S	UROC1_ENST00000383579.3_Silent_p.S146S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	146					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGTCATCTTCGACAAGTAGA	0.587000													40	69					0	0	0.008740	0	0
FAM83B	222584	broad.mit.edu	37	6	54804859	54804859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:54804859C>T	ENST00000306858.7	+	5	1206	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	364										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCATTTTGTTCCTAACTTTAA	0.343000													53	30					0	0	0.003610	0	0
RASA3	22821	broad.mit.edu	37	13	114773066	114773066	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:114773066G>A	ENST00000334062.7	-	18	1806	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	RASA3_ENST00000389544.4_Missense_Mutation_p.S530L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCCCGAGGACGAAATCAGATC	0.552000													23	10					0	0	0.003330	0	0
CCT6P3	643180	broad.mit.edu	37	7	64525412	64525412	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:64525412G>A	ENST00000426828.1	+	0	242					NR_033416.1																						TAATAGCAAAGGTAGCAACAG	0.383000													5	175					0	0	0.008291	0	0
CASR	846	broad.mit.edu	37	3	121980560	121980560	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121980560C>T	ENST00000498619.1	+	4	1116	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CASR_ENST00000296154.5_Silent_p.F226F|CASR_ENST00000490131.1_Silent_p.F226F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	226					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGAGAAATTCCGAGAGGAAG	0.522000													59	79					0	0	0.003610	0	0
CLIC1	1192	broad.mit.edu	37	6	31700000	31700000	+	Silent	SNP	T	T	A	rs141018232		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31700000T>A	ENST00000375780.2	-	6	1130	c.558A>T	c.(556-558)atA>atT	p.I186I	CLIC1_ENST00000375784.3_Silent_p.I186I|CLIC1_ENST00000375779.2_Silent_p.I186I|CLIC1_ENST00000395892.1_Silent_p.I186I			O00299	CLIC1_HUMAN	chloride intracellular channel 1	186	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						ACACCTGTACTATGTGTAACT	0.512000													265	199					0	0	0.003610	0	0
TNK1	8711	broad.mit.edu	37	17	7290739	7290739	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7290739G>A	ENST00000570896.1	+	11	1886	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	TNK1_ENST00000311668.2_Silent_p.R480R|TNK1_ENST00000576812.1_Silent_p.R485R			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	485					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCCCAGCACGGGGCCAGAGGA	0.572000													8	8					0	0	0.008291	0	0
TNXB	7148	broad.mit.edu	37	6	32023901	32023901	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32023901C>T	ENST00000375244.3	-	24	8395	c.8194G>A	c.(8194-8196)Gag>Aag	p.E2732K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2732K			P22105	TENX_HUMAN	tenascin XB	2790	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGGGGGCTCCGGGGCCTCA	0.642000													137	385					0	0	0.003610	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577843	2577843	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2577843C>T	ENST00000302956.4	+	5	579	c.485C>T	c.(484-486)tCc>tTc	p.S162F	AMDHD2_ENST00000565570.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.115_115insF|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.S162F|AMDHD2_ENST00000293971.6_Missense_Mutation_p.S162F			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	162					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CACCTCCGCTCCTTCGAGGCC	0.692000													9	12					0	0	0.006214	0	0
GPR142	350383	broad.mit.edu	37	17	72368006	72368006	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72368006G>A	ENST00000335666.4	+	4	704	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	219						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTCCTGCAGGGAGCAGTGCTG	0.632000													9	39					0	0	0.008291	0	0
IGHG2	3501	broad.mit.edu	37	14	106110225	106110225	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106110225C>T	ENST00000390545.2	-	0	392																											TCCGGGAGATCATGAGGGTGT	0.612000													41	60					0	0	0.007835	0	0
PRKCE	5581	broad.mit.edu	37	2	46237610	46237610	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:46237610G>A	ENST00000306156.3	+	10	1718	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	PRKCE_ENST00000394874.1_Missense_Mutation_p.R187Q	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	464	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCTCTGGCACGGAAACACCCG	0.488000													24	42					0	0	0.003954	0	0
COL8A1	1295	broad.mit.edu	37	3	99513870	99513870	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:99513870G>A	ENST00000261037.3	+	5	1505	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	COL8A1_ENST00000273342.4_Silent_p.G375G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	375	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GACCAAGAGGGGAGAAAGGAC	0.622000													10	24					0	0	0.006214	0	0
MUC7	4589	broad.mit.edu	37	4	71347158	71347158	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:71347158G>A	ENST00000413702.1	+	4	985	c.697G>A	c.(697-699)Gag>Aag	p.E233K	MUC7_ENST00000456088.1_Missense_Mutation_p.E233K|MUC7_ENST00000304887.5_Missense_Mutation_p.E233K	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	233	Thr-rich.					extracellular region	protein binding	p.E233*(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.592000													43	101					0	0	0.009718	0	0
PIPOX	51268	broad.mit.edu	37	17	27380587	27380587	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27380587C>T	ENST00000323372.4	+	4	960	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	212					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCTCCTCCGTCCCCTGGGCAT	0.552000													17	38					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141707969	141707969	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:141707969C>T	ENST00000389484.3	-	20	3942	c.2971G>A	c.(2971-2973)Gac>Aac	p.D991N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	991	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTCGTCATCTGGAAAG	0.433000										TSP Lung(27;0.18)			18	30					0	0	0.002780	0	0
MYH14	79784	broad.mit.edu	37	19	50795539	50795539	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:50795539C>T	ENST00000440075.2	+	37	5196	c.5149C>T	c.(5149-5151)Cgg>Tgg	p.R1717W	MYH14_ENST00000376970.2_Missense_Mutation_p.R1709W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1717W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1684W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1684W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1717W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1676W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1676					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCTATGGCGGGAGGTGGA	0.622000													7	12					0	0	0.001984	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357116	20357116	+	Silent	SNP	C	C	T	rs7912840		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:20357116C>T	ENST00000377252.3	+	4	1330	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.F114F	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCTGTCCTTCGATTTTCCAT	0.388000													15	28					0	0	0.004007	0	0
RBM5	10181	broad.mit.edu	37	3	50155851	50155851	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:50155851C>T	ENST00000347869.3	+	25	2585	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RP11-493K19.3_ENST00000437204.1_RNA|RP11-493K19.3_ENST00000425674.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	804	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGATGCTGTCCGGAAAGCCAT	0.542000													8	25					0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	177030324	177030324	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:177030324G>A	ENST00000367654.2	-	2	374	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.H121Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.H121Y|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.H121Y			O14525	ASTN1_HUMAN	astrotactin 1	121					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGAATGTGAAAAAGCAAA	0.522000													78	256					0	0	0.003610	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519938	69519938	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:69519938C>T	ENST00000338206.5	-	5	1139	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	377					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCCATTGGTTCCACCATGAGT	0.388000													72	101					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7674702	7674702	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7674702T>A	ENST00000572933.1	+	28	5877	c.4417T>A	c.(4417-4419)Ttt>Att	p.F1473I	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1473I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGACCTTATTTGACCAGGT	0.527000													32	61					0	0	0.012213	0	0
NKG7	4818	broad.mit.edu	37	19	51875431	51875431	+	Silent	SNP	G	G	A	rs144240268		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:51875431G>A	ENST00000221978.5	-	2	467	c.288C>T	c.(286-288)acC>acT	p.T96T	NKG7_ENST00000600427.1_Silent_p.T61T|NKG7_ENST00000595217.1_Silent_p.T61T	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	96						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAAAGGCTGCGGTGGTTGAGA	0.622000													45	70					0	0	0.013114	0	0
NIPBL	25836	broad.mit.edu	37	5	36986157	36986157	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:36986157C>T	ENST00000282516.8	+	10	3374	c.2875C>T	c.(2875-2877)Ccg>Tcg	p.P959S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P959S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	959					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTGTCATTCCGAAAATCAA	0.383000													30	48					0	0	0.009535	0	0
COL22A1	169044	broad.mit.edu	37	8	139606359	139606359	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:139606359C>T	ENST00000303045.6	-	63	4962	c.4516G>A	c.(4516-4518)Gga>Aga	p.G1506R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1486R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1506	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCATCTTTTCCAGGGGGCCCT	0.647000										HNSCC(7;0.00092)			33	17					0	0	0.004878	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3433091	3433091	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3433091G>T	ENST00000396852.4	-	7	2162	c.1855C>A	c.(1855-1857)Cag>Aag	p.Q619K	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q407K|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q619K|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.Q330K					zinc finger and SCAN domain containing 32									p.Q407E(1)|p.L61L(1)									GCACTGAACTGGGAACTGTTG	0.527000													18	61					1.00905e-13	1.11276e-13	0.008871	1	0
EXO1	9156	broad.mit.edu	37	1	242020715	242020715	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:242020715T>C	ENST00000366548.3	+	7	1067	c.474T>C	c.(472-474)ctT>ctC	p.L158L	EXO1_ENST00000518483.1_Silent_p.L158L|EXO1_ENST00000348581.5_Silent_p.L158L|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	158	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGGCCTATCTTAACAAAGCGG	0.468000								Editing and processing nucleases					23	97					0	0	0.003954	0	0
DOCK1	1793	broad.mit.edu	37	10	129216633	129216633	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:129216633A>C	ENST00000280333.6	+	45	4566	c.4457A>C	c.(4456-4458)gAa>gCa	p.E1486A		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1486	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGCAGGTGGAAATCAGCCCC	0.607000													6	15					0	0	0.001168	0	0
PCGF3	10336	broad.mit.edu	37	4	737340	737340	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:737340C>T	ENST00000362003.5	+	7	736	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PCGF3_ENST00000470161.2_Missense_Mutation_p.S114F|PCGF3_ENST00000521023.2_Missense_Mutation_p.S80F|PCGF3_ENST00000505655.2_Missense_Mutation_p.S114F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GAGACCTGCTCTGCAAAACAG	0.532000													10	29					0	0	0.001368	0	0
RGAG1	57529	broad.mit.edu	37	X	109694656	109694656	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:109694656C>T	ENST00000465301.2	+	3	1057	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	RGAG1_ENST00000540313.1_Silent_p.L271L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	271										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATATCCTCACTGATAATGTC	0.498000													105	17					0	0	0.003610	0	0
NOBOX	135935	broad.mit.edu	37	7	144098436	144098436	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:144098436C>T	ENST00000467773.1	-	4	546	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	NOBOX_ENST00000223140.5_Missense_Mutation_p.E98K|NOBOX_ENST00000483238.1_Missense_Mutation_p.E183K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	183					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAACAATCTTCCCCCTGAGTC	0.627000													12	23					0	0	0.002450	0	0
C3	718	broad.mit.edu	37	19	6684608	6684608	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6684608G>A	ENST00000245907.6	-	32	4175	c.4083C>T	c.(4081-4083)ttC>ttT	p.F1361F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1361					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGAGGTCGAATTTATTAC	0.483000													31	45					0	0	0.003755	0	0
SYNPO	11346	broad.mit.edu	37	5	150028727	150028727	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:150028727G>A	ENST00000394243.1	+	3	1996	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	SYNPO_ENST00000522122.1_Missense_Mutation_p.R541K|SYNPO_ENST00000519664.1_Missense_Mutation_p.R297K|SYNPO_ENST00000307662.4_Missense_Mutation_p.R297K	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	541					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTGGAAAGGAGGATGATG	0.642000													10	26					0	0	0.006214	0	0
FCN1	2219	broad.mit.edu	37	9	137801781	137801781	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:137801781C>T	ENST00000371806.3	-	9	935	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	282	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCATGACAGTCGGCGTACCAC	0.493000													55	32					0	0	0.003610	0	0
ABCA3	21	broad.mit.edu	37	16	2338046	2338046	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2338046C>T	ENST00000301732.5	-	21	3685	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	ABCA3_ENST00000382381.3_Silent_p.Q937Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	995					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGCGGGGCTCCTGTCCCTCAG	0.672000													9	16					0	0	0.010729	0	0
CALB2	794	broad.mit.edu	37	16	71411569	71411569	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71411569G>A	ENST00000302628.4	+	4	338		c.e4-1		CALB2_ENST00000349553.5_Splice_Site	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2								calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TATCTTCACAGCTGGCGCAGA	0.567000													26	47					0	0	0.006320	0	0
COPB2	9276	broad.mit.edu	37	3	139076710	139076710	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:139076710C>T	ENST00000333188.5	-	22	2897	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	COPB2_ENST00000507777.1_Missense_Mutation_p.D877N	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	906					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TACAGTCAATCATCCAAAATA	0.338000													5	7					0	0	0.000602	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240254	132240254	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:132240254G>A	ENST00000321253.6	+	5	1293	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D396N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCATAAGTTCGATCTCATGTA	0.642000													33	130					0	0	0.002836	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855684	62855684	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:62855684A>C	ENST00000584306.1	-	11	5110	c.4580T>G	c.(4579-4581)cTt>cGt	p.L1527R	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L1527R|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.L504R|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L565R|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L645R	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1527						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCACTGAGAAGCTTCATCAG	0.512000													106	299					0	0	0.003610	0	0
CTDP1	9150	broad.mit.edu	37	18	77477837	77477837	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:77477837C>T	ENST00000299543.7	+	10	2385	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	CTDP1_ENST00000075430.7_Silent_p.D746D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	746					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCTTTCCCGACCGGGAGGGTG	0.672000													21	41					0	0	0.002780	0	0
MYOCD	93649	broad.mit.edu	37	17	12647605	12647605	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12647605G>A	ENST00000425538.1	+	8	1023	c.823G>A	c.(823-825)Gca>Aca	p.A275T	MYOCD_ENST00000395988.1_Missense_Mutation_p.A179T|MYOCD_ENST00000343344.4_Missense_Mutation_p.A275T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	275					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGACCAGAAGGCAGAGAAGTC	0.547000													25	42					0	0	0.004656	0	0
SALL1	6299	broad.mit.edu	37	16	51171159	51171159	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51171159C>T	ENST00000440970.1	-	3	3979	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E	SALL1_ENST00000541611.1_Missense_Mutation_p.G103E|SALL1_ENST00000251020.4_Missense_Mutation_p.G1280E|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1280					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCAGGTTTCCCGTCAGCCC	0.582000													20	41					0	0	0.002299	0	0
RMND5B	64777	broad.mit.edu	37	5	177569657	177569657	+	Silent	SNP	G	G	A	rs144820574	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:177569657G>A	ENST00000515098.1	+	5	564	c.213G>A	c.(211-213)acG>acA	p.T71T	RMND5B_ENST00000542098.1_Silent_p.T58T|RMND5B_ENST00000313386.4_Silent_p.T71T			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	71										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAAAGATACGGTGCAGAAAC	0.572000													39	73					0	0	0.006230	0	0
ZNF99	7652	broad.mit.edu	37	19	22941195	22941195	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22941195C>T	ENST00000397104.3	-	5	1242	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E506K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAAGGTTTCTCTTCCATATGA	0.348000													22	33					0	0	0.002299	0	0
STC2	8614	broad.mit.edu	37	5	172755149	172755149	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:172755149C>T	ENST00000265087.4	-	1	1357	c.48G>A	c.(46-48)ttG>ttA	p.L16L		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	16					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAAGGTGGCCAACACCAAAG	0.632000													29	64					0	0	0.009535	0	0
RPGR	6103	broad.mit.edu	37	X	38129039	38129039	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:38129039T>G	ENST00000339363.3	-	18	3070	c.2903A>C	c.(2902-2904)aAg>aCg	p.K968T	RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.K763T|RPGR_ENST00000309513.3_Missense_Mutation_p.K701T			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	968					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATTGTTATTCTTGACAATCTT	0.348000													37	6					0	0	0.006999	0	0
NF1	4763	broad.mit.edu	37	17	29553538	29553538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:29553538G>A	ENST00000358273.4	+	18	2470	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W696*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	696					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTTCTGTGGAACCCTGAC	0.547000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	52					0	0	0.010504	0	0
TYR	7299	broad.mit.edu	37	11	88911296	88911296	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:88911296C>T	ENST00000263321.5	+	1	677	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	59					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCAGAATATCCTTCTGTCCAA	0.552000													24	5					0	0	0.002299	0	0
SYNRG	11276	broad.mit.edu	37	17	35898497	35898497	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:35898497A>G	ENST00000339208.6	-	18	3586	c.3446T>C	c.(3445-3447)tTa>tCa	p.L1149S	SYNRG_ENST00000591288.1_Missense_Mutation_p.L943S|SYNRG_ENST00000394378.2_Missense_Mutation_p.L1071S|SYNRG_ENST00000502449.2_Missense_Mutation_p.L1026S|SYNRG_ENST00000345615.4_Missense_Mutation_p.L1071S|SYNRG_ENST00000346661.4_Missense_Mutation_p.L1149S|SYNRG_ENST00000585472.1_Missense_Mutation_p.L1070S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1149					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GATTCCATTTAAGGTATCATT	0.303000													43	174					0	0	0.003610	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969058	49969058	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49969058C>T	ENST00000293350.4	+	13	1795	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	ALDH16A1_ENST00000433981.2_Silent_p.S379S|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Silent_p.S381S|ALDH16A1_ENST00000455361.2_Silent_p.S493S	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	544							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCGAAGCTCCAGGCCCATCC	0.662000													18	32					0	0	0.007413	0	0
NUB1	51667	broad.mit.edu	37	7	151053246	151053246	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:151053246C>T	ENST00000568733.1	+	7	769	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000566856.1_Missense_Mutation_p.P211S|NUB1_ENST00000355851.4_Missense_Mutation_p.P211S|NUB1_ENST00000413040.2_Missense_Mutation_p.P235S			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	211					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGAAATGACACCGTACTTAGA	0.403000													17	33					0	0	0.006122	0	0
KCNH7	90134	broad.mit.edu	37	2	163253266	163253266	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:163253266C>T	ENST00000332142.5	-	11	2696	c.2597G>A	c.(2596-2598)aGg>aAg	p.R866K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	866					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTCTCATGCCTTAGGTTGAA	0.338000													7	19					0	0	0.001984	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	181635	181635	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:181635G>A	ENST00000283426.6	+	17	3391	c.3341G>A	c.(3340-3342)aGa>aAa	p.R1114K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1114					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTAGAACTCAGAATCCAAGAA	0.532000													21	41					0	0	0.002780	0	0
PEG10	23089	broad.mit.edu	37	7	94293046	94293046	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:94293046G>A	ENST00000482108.1	+	2	657	c.178G>A	c.(178-180)Gag>Aag	p.E60K	PEG10_ENST00000488574.1_Missense_Mutation_p.E60K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	60					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATGACATCGAGCTCCGCGG	0.582000													13	15					0	0	0.001368	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634164	121634164	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121634164G>A	ENST00000489711.1	+	6	1007	c.619_splice	c.e6+1	p.G207_splice	SLC15A2_ENST00000295605.2_Splice_Site_p.G176_splice	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	207					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)	CATGCTGAGAGGTTAGGATTT	0.438000													18	25					0	0	0.008871	0	0
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71874719G>A	ENST00000307864.1	-	8	1140	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_ENST00000373248.1_Silent_p.I309I|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	309					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577000													9	13					0	0	0.008291	0	0
HTR4	3360	broad.mit.edu	37	5	147889434	147889434	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:147889434C>T	ENST00000360693.3	-	6	799	c.661G>A	c.(661-663)Gag>Aag	p.E221K	HTR4_ENST00000354217.2_Missense_Mutation_p.E221K|HTR4_ENST00000520514.1_Missense_Mutation_p.E221K|HTR4_ENST00000377888.3_Missense_Mutation_p.E221K|HTR4_ENST00000314512.6_Missense_Mutation_p.E221K|HTR4_ENST00000362016.2_Missense_Mutation_p.E235K|HTR4_ENST00000517929.1_Missense_Mutation_p.E221K|HTR4_ENST00000521530.1_Missense_Mutation_p.E221K|HTR4_ENST00000521735.1_Missense_Mutation_p.E221K	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	221					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGGGCATGCTCCTTAGCTGTG	0.557000													12	28					0	0	0.001855	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015556	129015556	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:129015556G>A	ENST00000274487.4	+	17	2733	c.2588G>A	c.(2587-2589)cGa>cAa	p.R863Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	863	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGTAAGACGAGGCCTCTGG	0.443000													23	39					0	0	0.012319	0	0
OR4D2	124538	broad.mit.edu	37	17	56247888	56247888	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56247888A>G	ENST00000545221.1	+	1	872	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCCTGAGGAACCAGGACATG	0.517000													39	134					0	0	0.005524	0	0
FCGBP	8857	broad.mit.edu	37	19	40398331	40398331	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:40398331C>T	ENST00000221347.6	-	14	6643	c.6636G>A	c.(6634-6636)ggG>ggA	p.G2212G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2212	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTAGTTCCCGCATAAGC	0.692000													21	28					0	0	0.003271	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	19					0	0	0.001168	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514917	233514917	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:233514917C>T	ENST00000366624.3	+	9	2426	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	MLK4_ENST00000366622.1_Missense_Mutation_p.A168V	NM_032435.2	NP_115811.2																					ACGGAGTCAGCTCTGTATGGG	0.547000													24	99					0	0	0.003954	0	0
PGBD4	161779	broad.mit.edu	37	15	34396489	34396489	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:34396489A>G	ENST00000397766.2	+	1	2216	c.1757A>G	c.(1756-1758)tAa>tGa	p.*586*		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	0										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAAAATTATTAAATACCGATc	0.403000													10	19					0	0	0.001368	0	0
GALNT5	11227	broad.mit.edu	37	2	158115237	158115237	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:158115237G>A	ENST00000259056.4	+	1	1128	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	215					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGCTGAAAGGGACTTGAATGT	0.493000													18	32					0	0	0.008871	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:89998001G>A	ENST00000428670.3	-	16	3021	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_ENST00000393164.2_Silent_p.F598F|ATP2B1_ENST00000348959.3_Silent_p.F855F|ATP2B1_ENST00000261173.2_Silent_p.F855F|ATP2B1_ENST00000359142.3_Silent_p.F855F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	855					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGAACTGAAGGAATTTTGAGA	0.383000													13	26					0	0	0.001368	0	0
FMO3	2328	broad.mit.edu	37	1	171072937	171072937	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:171072937G>A	ENST00000367755.4	+	3	255	c.144G>A	c.(142-144)gaG>gaA	p.E48E	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Silent_p.E28E|FMO3_ENST00000392085.2_Silent_p.E48E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	48					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCATGCAGAGGAGGGCAGGG	0.433000													95	68					0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:108568024G>A	ENST00000295756.6	+	5	456	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	76					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000													18	20					0	0	0.008871	0	0
NUP214	8021	broad.mit.edu	37	9	134073013	134073013	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:134073013C>T	ENST00000359428.5	+	29	4276	c.4132C>T	c.(4132-4134)Ccg>Tcg	p.P1378S	NUP214_ENST00000451030.1_Missense_Mutation_p.P1379S|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.P1368S|NUP214_ENST00000483497.2_Missense_Mutation_p.P204S			P35658	NU214_HUMAN	nucleoporin 214kDa	1378	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		P -> L (in a breast cancer sample; somatic mutation).		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACTGCCCCCCCGGTGTTAGG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								28	16					0	0	0.004656	0	0
SYNRG	11276	broad.mit.edu	37	17	35898498	35898498	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:35898498A>G	ENST00000339208.6	-	18	3585	c.3445T>C	c.(3445-3447)Tta>Cta	p.L1149L	SYNRG_ENST00000591288.1_Silent_p.L943L|SYNRG_ENST00000394378.2_Silent_p.L1071L|SYNRG_ENST00000502449.2_Silent_p.L1026L|SYNRG_ENST00000345615.4_Silent_p.L1071L|SYNRG_ENST00000346661.4_Silent_p.L1149L|SYNRG_ENST00000585472.1_Silent_p.L1070L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1149					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATTCCATTTAAGGTATCATTT	0.308000													41	172					0	0	0.003610	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050549	32050549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:32050549C>T	ENST00000271064.7	+	7	845	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.Q226*|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	257					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGTCGCCCCAGAACCTGCT	0.632000													30	62					0	0	0.009535	0	0
CORIN	10699	broad.mit.edu	37	4	47746427	47746427	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47746427C>T	ENST00000273857.4	-	5	790	c.791G>A	c.(790-792)gGa>gAa	p.G264E	CORIN_ENST00000505909.1_Missense_Mutation_p.G264E|CORIN_ENST00000508498.1_Missense_Mutation_p.G125E|CORIN_ENST00000504584.1_Missense_Mutation_p.G264E|CORIN_ENST00000502252.1_Missense_Mutation_p.G197E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	264					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTGCTTTCCGTTTTCCTG	0.378000													33	42					0	0	0.012213	0	0
TECRL	253017	broad.mit.edu	37	4	65180440	65180440	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:65180440G>A	ENST00000381210.3	-	5	587	c.477C>T	c.(475-477)ctC>ctT	p.L159L	TECRL_ENST00000507440.1_Silent_p.L159L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	159					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATAAAAGAGGAGGTATATTA	0.353000													20	42					0	0	0.002299	0	0
RPH3A	22895	broad.mit.edu	37	12	113266161	113266161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:113266161G>A	ENST00000389385.4	+	3	535	c.38G>A	c.(37-39)tGg>tAg	p.W13*	RPH3A_ENST00000420983.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.W13*|RPH3A_ENST00000447659.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.W13*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.W13*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.W13*	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	13					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTAACCGTTGGATGTACCCC	0.473000													42	67					0	0	0.003610	0	0
INCENP	3619	broad.mit.edu	37	11	61912749	61912749	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:61912749G>A	ENST00000394818.3	+	13	2026	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	INCENP_ENST00000278849.4_Silent_p.E604E	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	608					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGATCGACGAGAAGACTGAGA	0.572000													56	18					0	0	0.003610	0	0
C17orf97	400566	broad.mit.edu	37	17	263312	263312	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:263312C>T	ENST00000360127.6	+	2	694	c.678C>T	c.(676-678)caC>caT	p.H226H	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	226	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGGGCTTCCACCCCGACCCCG	0.711000													18	19					0	0	0.012319	0	0
CATSPERB	79820	broad.mit.edu	37	14	92047331	92047331	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:92047331G>A	ENST00000256343.3	-	27	3409	c.3253C>T	c.(3253-3255)Ccg>Tcg	p.P1085S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1085					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTCCTCCACGGATGGATGCCT	0.428000													19	51					0	0	0.007413	0	0
PHTF1	10745	broad.mit.edu	37	1	114252914	114252914	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:114252914C>T	ENST00000369604.1	-	11	1714	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R	PHTF1_ENST00000369598.1_Missense_Mutation_p.G366R|PHTF1_ENST00000393357.2_Missense_Mutation_p.G411R|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.G358R|PHTF1_ENST00000369596.2_Missense_Mutation_p.G358R|PHTF1_ENST00000357783.2_Missense_Mutation_p.G411R|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTTTGGTCCCTGAGTGAAGG	0.498000													14	34					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	39051930	39051930	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:39051930C>T	ENST00000355481.4	+	89	12576	c.12445C>T	c.(12445-12447)Ccg>Tcg	p.P4149S	RYR1_ENST00000360985.3_Missense_Mutation_p.P4149S|RYR1_ENST00000359596.3_Missense_Mutation_p.P4154S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4154					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGCATGTGCCGCATGACCC	0.617000													24	37					0	0	0.003330	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607623	84607623	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:84607623G>A	ENST00000344803.2	+	4	2285	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ATGTTCTAAAGAAGTCCGCAT	0.453000													14	9					0	0	0.006122	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737657	62737657	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:62737657G>A	ENST00000369768.1	-	1	867	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	176						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGAACCAGGACCGTGACGC	0.662000													4	18					0	0	0.009096	0	0
PDXDC1	23042	broad.mit.edu	37	16	15092243	15092243	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:15092243C>T	ENST00000396410.4	+	3	239	c.142C>T	c.(142-144)Cca>Tca	p.P48S	PDXDC1_ENST00000569715.1_Missense_Mutation_p.P48S|PDXDC1_ENST00000455313.2_Missense_Mutation_p.P48S|PDXDC1_ENST00000450288.2_Missense_Mutation_p.P47S|PDXDC1_ENST00000535621.2_Missense_Mutation_p.P48S|PDXDC1_ENST00000325823.7_Missense_Mutation_p.P33S|PDXDC1_ENST00000563679.1_Missense_Mutation_p.P66S|PDXDC1_ENST00000447912.2_Missense_Mutation_p.P33S	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	48					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGAGATATTCCAGGCCCACT	0.398000													13	89					0	0	0.004990	0	0
MVP	9961	broad.mit.edu	37	16	29853079	29853079	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:29853079C>T	ENST00000357402.5	+	9	1492	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.R452W	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	452					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTTGGCGCCCCGGAACAAGAC	0.662000													10	10					0	0	0.008291	0	0
OR2T34	127068	broad.mit.edu	37	1	248737510	248737510	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248737510G>A	ENST00000328782.2	-	1	570	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGTCTCACAGAAAAAACTCA	0.512000													84	169					0	0	0.003610	0	0
ESRRG	2104	broad.mit.edu	37	1	216692670	216692670	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:216692670G>A	ENST00000391890.3	-	8	1425	c.908C>T	c.(907-909)tCg>tTg	p.S303L	ESRRG_ENST00000359162.2_Missense_Mutation_p.S296L|ESRRG_ENST00000360012.3_Missense_Mutation_p.S296L|ESRRG_ENST00000408911.3_Missense_Mutation_p.S319L|ESRRG_ENST00000493748.1_Missense_Mutation_p.S296L|ESRRG_ENST00000493603.1_Missense_Mutation_p.S296L|ESRRG_ENST00000366940.2_Missense_Mutation_p.S296L|ESRRG_ENST00000463665.1_Missense_Mutation_p.S257L|ESRRG_ENST00000487276.1_Missense_Mutation_p.S296L|ESRRG_ENST00000366938.2_Missense_Mutation_p.S296L|ESRRG_ENST00000361525.3_Missense_Mutation_p.S296L|ESRRG_ENST00000361395.2_Missense_Mutation_p.S296L|ESRRG_ENST00000366937.1_Missense_Mutation_p.S331L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	319					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCCTCAAACGAAAGAGACCG	0.473000													18	68					0	0	0.004990	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822755	56822755	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:56822755G>A	ENST00000229201.4	-	11	1367	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R406C|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	406					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGAAGGTACGGACACTGAGG	0.552000													21	42					0	0	0.002299	0	0
NEK10	152110	broad.mit.edu	37	3	27385792	27385792	+	Silent	SNP	G	G	A	rs150437265	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:27385792G>A	ENST00000429845.2	-	6	695	c.333C>T	c.(331-333)acC>acT	p.T111T	NEK10_ENST00000341435.5_Silent_p.T111T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	111							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCACCAAGGCGGTAAAGATCT	0.363000													7	11					0	0	0.004482	0	0
PANX3	116337	broad.mit.edu	37	11	124481516	124481516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124481516G>A	ENST00000284288.2	+	1	131	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	22					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGACCGCAGGGGACCCCGCCT	0.607000													31	9					0	0	0.003755	0	0
METTL6	131965	broad.mit.edu	37	3	15452786	15452786	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:15452786G>A	ENST00000443029.1	-	6	1072	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	METTL6_ENST00000383790.3_Silent_p.L278L|METTL6_ENST00000450816.2_Silent_p.L233L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	278							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCCAGGCCCAGGACCACAGGA	0.463000													8	30					0	0	0.003080	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008150	1008150	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1008150G>A	ENST00000234389.3	+	6	2345	c.2326G>A	c.(2326-2328)Gga>Aga	p.G776R		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	776					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTATGGGATCGGACTGCCCCA	0.657000													5	6					0	0	0.000602	0	0
CUX2	23316	broad.mit.edu	37	12	111786114	111786114	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:111786114G>A	ENST00000261726.6	+	22	4600	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGGCCCTGGAGTGGGAGT	0.567000													40	51					0	0	0.006999	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7998817	7998817	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:7998817C>T	ENST00000377507.3	-	3	338	c.172G>A	c.(172-174)Gga>Aga	p.G58R		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	58					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTTTGTCCACCTGCGCTG	0.413000													62	103					0	0	0.003610	0	0
RFX1	5989	broad.mit.edu	37	19	14094356	14094356	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:14094356G>C	ENST00000254325.4	-	3	605	c.371C>G	c.(370-372)aCc>aGc	p.T124S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	124					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGGCTGGCGGTGGAGCCGGG	0.697000													8	18					0	0	0.004482	0	0
PARD3B	117583	broad.mit.edu	37	2	206480476	206480476	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:206480476A>T	ENST00000406610.2	+	23	3764	c.3557A>T	c.(3556-3558)gAc>gTc	p.D1186V	PARD3B_ENST00000358768.2_Missense_Mutation_p.D1124V|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.D1117V|PARD3B_ENST00000349953.3_Missense_Mutation_p.D1085V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1186					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGCAGCCCAGACCAGTACCCT	0.622000													33	52					0	0	0.003755	0	0
KIF6	221458	broad.mit.edu	37	6	39507938	39507938	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:39507938C>T	ENST00000287152.7	-	13	1580	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	KIF6_ENST00000373213.4_Missense_Mutation_p.A335T|KIF6_ENST00000373215.3_Missense_Mutation_p.A496T|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.A496T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	496					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCATGCCAGCCAAGTGGAGA	0.463000													47	168					0	0	0.003610	0	0
ARID3B	10620	broad.mit.edu	37	15	74882180	74882180	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74882180C>T	ENST00000346246.5	+	5	948	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	239	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAACCGAATCCCCATCATGG	0.522000													14	48					0	0	0.010504	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329731	8329731	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:8329731C>T	ENST00000359286.4	+	5	544	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358000													86	126					0	0	0.003610	0	0
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:210559961C>T	ENST00000360351.4	+	7	3573	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_ENST00000447185.1_Missense_Mutation_p.P1019S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428000													17	24					0	0	0.006122	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751375	139751375	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:139751375G>T	ENST00000445819.1	+	18	2141	c.2091G>T	c.(2089-2091)ctG>ctT	p.L697L	MAMDC4_ENST00000317446.2_Silent_p.L618L|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	697	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTGTGCTCCTGGACCCCACAG	0.667000													18	12					7.45023e-12	8.1926e-12	0.010504	1	0
LRFN1	57622	broad.mit.edu	37	19	39804764	39804764	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:39804764C>T	ENST00000248668.4	-	1	1212	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	405						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGCCGGGCTCGGTGAGAGGC	0.706000													8	11					0	0	0.003080	0	0
CCDC33	80125	broad.mit.edu	37	15	74622662	74622662	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74622662G>A	ENST00000321288.5	+	14	2032	c.2032G>A	c.(2032-2034)Ggg>Agg	p.G678R	CCDC33_ENST00000268082.4_Missense_Mutation_p.G68R|CCDC33_ENST00000398814.3_Missense_Mutation_p.G475R|CCDC33_ENST00000558821.1_Missense_Mutation_p.G68R			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	678							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAGGAAGAGGGGCAGGGCAA	0.642000													6	11					0	0	0.001168	0	0
REEP5	7905	broad.mit.edu	37	5	112222849	112222849	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:112222849C>T	ENST00000379638.4	-	4	731	c.383G>A	c.(382-384)aGc>aAc	p.S128N	REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Missense_Mutation_p.A82T|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_Intron	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	128						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		ATTAGAAGGGCTCGGGGCCAT	0.537000													17	18					0	0	0.006122	0	0
DDX60	55601	broad.mit.edu	37	4	169208310	169208310	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:169208310A>T	ENST00000393743.3	-	10	1519	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	410							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCCAGAGATATTCATAATCT	0.353000													18	43					0	0	0.006122	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449569	25449569	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:25449569G>A	ENST00000424208.1	+	0	2339				SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1																						ATTCTCAAAAGGATTATGCTG	0.498000													68	145					0	0	0.003610	0	0
TRIM58	25893	broad.mit.edu	37	1	248031359	248031359	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248031359T>C	ENST00000366481.3	+	5	913	c.865T>C	c.(865-867)Ttc>Ctc	p.F289L	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	289	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTAAGGAAGTTCCAAGGTAG	0.512000													10	17					0	0	0.008291	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188507	140188507	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140188507G>A	ENST00000530339.1	+	1	1735	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E579K|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E579K|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGAGCGAGCTGGTGCC	0.662000													44	45					0	0	0.003610	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619092	1619092	+	Missense_Mutation	SNP	G	G	A	rs151223920	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:1619092G>A	ENST00000412090.1	-	1	432	c.389C>T	c.(388-390)tCa>tTa	p.S130L	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	130	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAGCAGGATGATCCACAGCC	0.637000													125	34					0	0	0.003610	0	0
COL16A1	1307	broad.mit.edu	37	1	32157060	32157060	+	Silent	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:32157060G>T	ENST00000373672.3	-	19	1872	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	COL16A1_ENST00000373668.3_Silent_p.P452P|COL16A1_ENST00000271069.6_Silent_p.P452P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	452	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGGGAGGCCGGGGGGCCCAG	0.662000													15	27					3.99206e-14	4.40867e-14	0.007413	1	0
ITFG2	55846	broad.mit.edu	37	12	2930439	2930439	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:2930439C>T	ENST00000228799.2	+	7	846	c.707C>T	c.(706-708)gCt>gTt	p.A236V	ITFG2_ENST00000542548.1_Missense_Mutation_p.A124V|ITFG2_ENST00000419778.2_Missense_Mutation_p.A59V	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	236										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGACCCCAGCTGCCCGAGAC	0.552000													7	9					0	0	0.001984	0	0
ADAM33	80332	broad.mit.edu	37	20	3655201	3655201	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:3655201G>A	ENST00000356518.2	-	6	791	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ADAM33_ENST00000350009.2_Missense_Mutation_p.P184S|ADAM33_ENST00000379861.4_Missense_Mutation_p.P184S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	184					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGTTCCCAGGATCCCTGTGG	0.612000													32	57					0	0	0.004289	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250535	1250535	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:1250535C>T	ENST00000348261.5	+	7	1331	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	CACNA1H_ENST00000565831.1_Silent_p.F361F|CACNA1H_ENST00000358590.4_Silent_p.F361F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	361					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCATCAACTTCGACAACATCG	0.647000													17	32					0	0	0.008871	0	0
REN	5972	broad.mit.edu	37	1	204131262	204131262	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:204131262C>T	ENST00000367195.2	-	2	171	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	REN_ENST00000272190.8_Missense_Mutation_p.R43Q			P00797	RENI_HUMAN	renin	43					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGGCTTTCTCGGATTGAGGG	0.567000											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	50					0	0	0.010729	0	0
GYS1	2997	broad.mit.edu	37	19	49474231	49474231	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49474231G>A	ENST00000323798.3	-	13	1795	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	GYS1_ENST00000263276.6_Silent_p.G469G|GYS1_ENST00000541188.1_Silent_p.G453G|GYS1_ENST00000544287.1_Silent_p.G166G	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	533					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGCAGCCGAAGCCGGAGAGAT	0.592000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	51					0	0	0.003271	0	0
C7orf31	136895	broad.mit.edu	37	7	25181885	25181885	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:25181885C>T	ENST00000409280.1	-	9	1234	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	C7orf31_ENST00000283905.3_Missense_Mutation_p.R309Q			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	309										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TCCTATCTTTCGTGTTAACTC	0.448000													46	56					0	0	0.003610	0	0
ITIH5	80760	broad.mit.edu	37	10	7621865	7621865	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:7621865C>T	ENST00000256861.6	-	9	1349	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R424Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.R206Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.R210Q|ITIH5_ENST00000397145.2_Missense_Mutation_p.R424Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	424	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCGGCCTCTCGGGTGTTGTT	0.607000													17	40					0	0	0.006122	0	0
DHX9	1660	broad.mit.edu	37	1	182845262	182845262	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:182845262A>G	ENST00000367549.3	+	17	2003	c.1893A>G	c.(1891-1893)gaA>gaG	p.E631E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	631					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			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						ACGAAAAGGAAACTCCTTTTG	0.393000													81	64					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166900468	166900468	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166900468C>T	ENST00000423058.2	-	11	1771	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	SCN1A_ENST00000303395.4_Missense_Mutation_p.G585E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G585E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G585E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCTCAGATCCCACATCCTT	0.502000													22	43					0	0	0.012319	0	0
DUSP27	92235	broad.mit.edu	37	1	167096525	167096525	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:167096525C>T	ENST00000361200.2	+	6	2323	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	DUSP27_ENST00000443333.1_Silent_p.S719S|DUSP27_ENST00000271385.5_Silent_p.S719S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	719					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACACCATTTCCATTGCCAGTA	0.547000													29	68					0	0	0.009535	0	0
GABRE	2564	broad.mit.edu	37	X	151124193	151124193	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:151124193G>A	ENST00000370325.1	-	7	977	c.924C>T	c.(922-924)gcC>gcT	p.A308A	GABRE_ENST00000370328.3_Silent_p.A308A|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	308					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGTCCGGGCTGGAGCAG	0.522000													82	17					0	0	0.003610	0	0
CARD6	84674	broad.mit.edu	37	5	40852466	40852466	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:40852466C>T	ENST00000254691.5	+	3	1231	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	344					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGATTCAATCCTCAGTCACA	0.468000													12	27					0	0	0.001368	0	0
GLP2R	9340	broad.mit.edu	37	17	9765377	9765377	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:9765377C>T	ENST00000262441.5	+	9	1539	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	GLP2R_ENST00000574745.1_Silent_p.I162I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	342					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTGGATCATCCGAGGAC	0.507000													58	100					0	0	0.003610	0	0
MYOG	4656	broad.mit.edu	37	1	203054835	203054835	+	Silent	SNP	C	C	T	rs148417428		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:203054835C>T	ENST00000241651.4	-	1	329	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TCAGTGTGGCCGCCCGCCGCC	0.657000													23	93					0	0	0.003330	0	0
MDGA1	266727	broad.mit.edu	37	6	37612346	37612346	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:37612346C>T	ENST00000434837.2	-	13	3506	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	MDGA1_ENST00000297153.7_Silent_p.Q780Q|MDGA1_ENST00000505425.1_Silent_p.Q776Q	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	776	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAGGGCATTCTGCCGCGTCC	0.567000													11	26					0	0	0.001368	0	0
NRAP	4892	broad.mit.edu	37	10	115349450	115349450	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:115349450C>T	ENST00000369358.4	-	41	5331	c.5087G>A	c.(5086-5088)aGg>aAg	p.R1696K	NRAP_ENST00000369360.3_Missense_Mutation_p.R1661K|NRAP_ENST00000359988.3_Missense_Mutation_p.R1688K|NRAP_ENST00000360478.3_Missense_Mutation_p.R1653K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1688				Y -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).		fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACCCAGGCCCCTTGCGTTGGC	0.547000													30	54					0	0	0.008361	0	0
FBXO10	26267	broad.mit.edu	37	9	37537332	37537332	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:37537332G>A	ENST00000432825.2	-	3	1242	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	398						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCAGCTGAATGGATGCTCCTG	0.587000													5	2					0	0	0.001168	0	0
APBB2	323	broad.mit.edu	37	4	40936678	40936678	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:40936678T>C	ENST00000295974.8	-	9	1772	c.1143A>G	c.(1141-1143)ttA>ttG	p.L381L	APBB2_ENST00000513140.1_Silent_p.L360L|APBB2_ENST00000508593.1_Silent_p.L382L|APBB2_ENST00000506352.1_Silent_p.L360L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	381					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAAACTCTTTTAAACTGGGGT	0.438000													15	12					0	0	0.004990	0	0
IRAK3	11213	broad.mit.edu	37	12	66605263	66605263	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:66605263C>T	ENST00000261233.4	+	5	895	c.474C>T	c.(472-474)atC>atT	p.I158I	IRAK3_ENST00000457197.2_Silent_p.I97I	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	158					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTCAAAATATCATAGAAGGAA	0.358000													11	25					0	0	0.010729	0	0
PANX3	116337	broad.mit.edu	37	11	124481517	124481517	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124481517G>A	ENST00000284288.2	+	1	132	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	22					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GACCGCAGGGGACCCCGCCTC	0.607000													30	9					0	0	0.003271	0	0
LRP2	4036	broad.mit.edu	37	2	170048526	170048526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170048526C>T	ENST00000263816.3	-	48	9133	c.8848G>A	c.(8848-8850)Gat>Aat	p.D2950N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2950	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACTCGGAATCCGAGCAGTTT	0.463000													19	33					0	0	0.010504	0	0
CUBN	8029	broad.mit.edu	37	10	17088024	17088024	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:17088024G>A	ENST00000377833.4	-	24	3464	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1133	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTATGAGAGATGATTGTTG	0.378000													23	35					0	0	0.002299	0	0
UBR4	23352	broad.mit.edu	37	1	19441987	19441987	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:19441987C>A	ENST00000375267.2	-	74	10971	c.10968G>T	c.(10966-10968)gaG>gaT	p.E3656D	UBR4_ENST00000375254.3_Missense_Mutation_p.E3656D|UBR4_ENST00000375217.2_Missense_Mutation_p.E3649D|UBR4_ENST00000375226.2_Missense_Mutation_p.E3632D|UBR4_ENST00000375218.3_Missense_Mutation_p.E71D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3656					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGCAGGGTCTCTGTGGAGG	0.532000													55	86					5.39261e-20	5.97246e-20	0.003610	1	0
ACAA1	30	broad.mit.edu	37	3	38173488	38173488	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38173488G>A	ENST00000333167.8	-	4	504	c.332C>T	c.(331-333)cCg>cTg	p.P111L	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000450296.1_Intron|ACAA1_ENST00000301810.7_Missense_Mutation_p.P111L|ACAA1_ENST00000444607.2_Missense_Mutation_p.P111L	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CACAGTCTCCGGGATGTCACT	0.527000											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	40					0	0	0.010818	0	0
GRID2	2895	broad.mit.edu	37	4	94006285	94006285	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:94006285G>A	ENST00000282020.4	+	3	642	c.384G>A	c.(382-384)agG>agA	p.R128R	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	128					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)	GGACCCCAAGGAGTGGCTGTG	0.552000													35	42					0	0	0.003755	0	0
SEC16B	89866	broad.mit.edu	37	1	177913708	177913708	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:177913708G>A	ENST00000308284.6	-	15	1958	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	623					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGAAAGAAGGGATGAAGGATT	0.493000													100	66					0	0	0.003610	0	0
SPATA32	124783	broad.mit.edu	37	17	43332872	43332872	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:43332872G>A	ENST00000543122.1	-	6	1395	c.614C>T	c.(613-615)cCc>cTc	p.P205L	SPATA32_ENST00000331780.4_Missense_Mutation_p.P226L|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					spermatogenesis associated 32									p.P226L(1)									GGACAGGAGGGGGCTTGGTGC	0.632000													22	19					0	0	0.012319	0	0
CYP17A1	1586	broad.mit.edu	37	10	104597062	104597062	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:104597062C>T	ENST00000369887.3	-	1	228	c.57G>A	c.(55-57)aaG>aaA	p.K19K	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	19					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGCACCTTCTCTTGGGCCAAA	0.582000													32	51					0	0	0.010818	0	0
SCAF4	57466	broad.mit.edu	37	21	33057964	33057964	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:33057964G>A	ENST00000286835.7	-	17	2508	c.2126C>T	c.(2125-2127)cCa>cTa	p.P709L	SCAF4_ENST00000399804.1_Missense_Mutation_p.P709L|SCAF4_ENST00000434667.3_Missense_Mutation_p.P694L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	709						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCAAAGCCTGGAGGCGGTAT	0.537000													21	31					0	0	0.012319	0	0
IL27RA	9466	broad.mit.edu	37	19	14160061	14160061	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:14160061G>A	ENST00000263379.2	+	10	1462	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	446	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CACCAGCTTCGAGGCCACCTC	0.642000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	30					0	0	0.004990	0	0
GRAMD3	65983	broad.mit.edu	37	5	125820190	125820190	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:125820190G>A	ENST00000285689.3	+	10	1405	c.944G>A	c.(943-945)gGa>gAa	p.G315E	RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000515200.1_Missense_Mutation_p.G293E|GRAMD3_ENST00000544396.1_Missense_Mutation_p.G211E|GRAMD3_ENST00000502348.1_Missense_Mutation_p.G206E|GRAMD3_ENST00000513040.1_Missense_Mutation_p.G330E|GRAMD3_ENST00000511134.1_Missense_Mutation_p.G299E|GRAMD3_ENST00000543198.1_Missense_Mutation_p.G293E|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000542322.1_Missense_Mutation_p.G323E	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	315										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GTACCTGAAGGAAAAGCCAAG	0.453000													22	38					0	0	0.002780	0	0
CORIN	10699	broad.mit.edu	37	4	47746428	47746428	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47746428C>T	ENST00000273857.4	-	5	789	c.790G>A	c.(790-792)Gga>Aga	p.G264R	CORIN_ENST00000505909.1_Missense_Mutation_p.G264R|CORIN_ENST00000508498.1_Missense_Mutation_p.G125R|CORIN_ENST00000504584.1_Missense_Mutation_p.G264R|CORIN_ENST00000502252.1_Missense_Mutation_p.G197R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	264					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G264*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATTGCTTTCCGTTTTCCTGC	0.378000													35	42					0	0	0.003755	0	0
HCN3	57657	broad.mit.edu	37	1	155257071	155257071	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:155257071T>C	ENST00000368358.3	+	7	1593	c.1585T>C	c.(1585-1587)Ttc>Ctc	p.F529L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	529						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTGAGGAGTTCCCCATGAT	0.607000													22	79					0	0	0.003330	0	0
AFMID	125061	broad.mit.edu	37	17	76202102	76202102	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76202102C>T	ENST00000409257.5	+	10	910	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Silent_p.I93I|AFMID_ENST00000327898.5_Silent_p.L291L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	286						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTTGAGAATCTGACCCAGAA	0.552000													12	34					0	0	0.001855	0	0
PCYT1B	9468	broad.mit.edu	37	X	24637166	24637166	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:24637166G>A	ENST00000379145.1	-	2	143	c.99C>T	c.(97-99)acC>acT	p.T33T	PCYT1B_ENST00000379144.2_Silent_p.T51T|PCYT1B_ENST00000356768.4_Silent_p.T51T	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	51						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ACTGGCAGTTGGTTTCATCAG	0.488000													30	2					0	0	0.012213	0	0
NBAS	51594	broad.mit.edu	37	2	15614372	15614372	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:15614372G>A	ENST00000281513.5	-	15	1443	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	NBAS_ENST00000441750.1_Missense_Mutation_p.S473F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	473										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCAGAATCAGAATCCTCTTC	0.418000													17	29					0	0	0.004007	0	0
SHE	126669	broad.mit.edu	37	1	154461715	154461715	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:154461715G>A	ENST00000304760.2	-	3	922	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	279										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGTCCTTGGAACTCCGTCT	0.627000													22	96					0	0	0.002299	0	0
FGF21	26291	broad.mit.edu	37	19	49261371	49261371	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49261371C>T	ENST00000593756.1	+	4	1096	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FGF21_ENST00000222157.3_Missense_Mutation_p.P175L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	175					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCGCACTCCCGGAGCCACCC	0.711000													13	16					0	0	0.001855	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:97726706C>T	ENST00000472788.1	-	0	657					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000													5	8					0	0	0.000602	0	0
DCHS2	54798	broad.mit.edu	37	4	155253660	155253660	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:155253660C>T	ENST00000357232.3	-	9	2202	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G1234R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	735	Cadherin 6.				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)		AAGAATTTTCCATCAGACAAA	0.388000													24	37					0	0	0.003330	0	0
NPTXR	23467	broad.mit.edu	37	22	39222732	39222732	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39222732G>A	ENST00000333039.2	-	3	994	c.871C>T	c.(871-873)Cca>Tca	p.P291S		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	291						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AAGGCATCTGGAGGACTGTAG	0.592000													12	20					0	0	0.001368	0	0
DYRK3	8444	broad.mit.edu	37	1	206821165	206821165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:206821165C>T	ENST00000367106.1	+	4	1035	c.562C>T	c.(562-564)Cga>Tga	p.R188*	DYRK3_ENST00000367109.2_Nonsense_Mutation_p.R208*|DYRK3_ENST00000367108.3_Nonsense_Mutation_p.R188*|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	208					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTAGCTTATCGATATGAGGT	0.468000													29	76					0	0	0.006320	0	0
KIAA1524	57650	broad.mit.edu	37	3	108295144	108295144	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:108295144C>T	ENST00000295746.8	-	8	944	c.868G>A	c.(868-870)Gga>Aga	p.G290R	KIAA1524_ENST00000491772.1_Missense_Mutation_p.G131R|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	290						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATCCTTTCCATTAAGAAGA	0.274000													41	76					0	0	0.003610	0	0
C1R	715	broad.mit.edu	37	12	7188163	7188163	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:7188163C>T	ENST00000542285.1	-	11	1784	c.1635G>A	c.(1633-1635)ggG>ggA	p.G545G				P00736	C1R_HUMAN	complement component 1, r subcomponent	597	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCATGACCCCGAAGCCAC	0.552000													15	23					0	0	0.002450	0	0
ELMO2	63916	broad.mit.edu	37	20	45003020	45003020	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:45003020G>A	ENST00000372176.1	-	15	1434	c.966C>T	c.(964-966)gcC>gcT	p.A322A	ELMO2_ENST00000396391.1_Silent_p.A410A|ELMO2_ENST00000352077.2_Silent_p.A408A|ELMO2_ENST00000445496.2_Silent_p.A227A|ELMO2_ENST00000439931.2_Silent_p.A422A|ELMO2_ENST00000454865.2_Silent_p.A142A|ELMO2_ENST00000290246.6_Silent_p.A410A			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	410	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGAGCTCAATGGCACTGCGGC	0.507000													25	59					0	0	0.006320	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					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)				ATCCCCTTTTCCTTGAGGATG	0.532000													79	57					0	0	0.003610	0	0
MFAP2	4237	broad.mit.edu	37	1	17303271	17303271	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:17303271G>A	ENST00000375535.3	-	5	462	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MFAP2_ENST00000375534.3_Missense_Mutation_p.S57F|MFAP2_ENST00000438542.1_Missense_Mutation_p.S57F|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	58						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ctgTTCCTCGGAGGGCCGAGG	0.662000													29	34					0	0	0.010818	0	0
OR2A12	346525	broad.mit.edu	37	7	143792932	143792932	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:143792932C>T	ENST00000408949.2	+	1	792	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTCCCACCTCTGCGTGGTGG	0.562000													128	158					0	0	0.003610	0	0
ATP11C	286410	broad.mit.edu	37	X	138878601	138878601	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:138878601G>A	ENST00000370557.1	-	12	2064	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.S349L|ATP11C_ENST00000359686.2_Missense_Mutation_p.S349L|ATP11C_ENST00000370543.1_Missense_Mutation_p.S349L|ATP11C_ENST00000361648.2_Missense_Mutation_p.S349L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	349					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACCATAAATGATAGGAAGTC	0.333000													43	12					0	0	0.003610	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310285	75310285	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75310285C>T	ENST00000361900.6	+	6	575	c.368C>T	c.(367-369)gCc>gTc	p.A123V	SCAMP5_ENST00000562212.1_Missense_Mutation_p.A123V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A56V|SCAMP5_ENST00000425597.3_Missense_Mutation_p.A123V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A52V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	123					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATCATCCAGGCCGTGGGCATC	0.587000													40	60					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179455117	179455117	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179455117G>A	ENST00000589042.1	-	304	61559	c.61335C>T	c.(61333-61335)ttC>ttT	p.F20445F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.F17877F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F18804F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.F11505F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.F11572F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.F11380F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18804	Fibronectin type-III 48.						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)			CCTTTATACGGAATCTGTACT	0.413000													27	55					0	0	0.008361	0	0
SERPINB13	5275	broad.mit.edu	37	18	61259698	61259698	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61259698C>T	ENST00000344731.5	+	4	444	c.342C>T	c.(340-342)taC>taT	p.Y114Y	SERPINB13_ENST00000269489.5_Silent_p.Y114Y	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	114					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAAAACATACCTCTTCCTTC	0.408000													16	20					0	0	0.008871	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584678	72584678	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72584678C>T	ENST00000375352.1	-	2	431	c.351G>A	c.(349-351)ggG>ggA	p.G117G	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	117	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GAACTTTGACCCCAAGATCAA	0.483000													28	107					0	0	0.010818	0	0
KDM2B	84678	broad.mit.edu	37	12	121880145	121880145	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121880145G>A	ENST00000377069.4	-	18	3298	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	KDM2B_ENST00000377071.4_Silent_p.P1033P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P401P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1033					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATACACTTGGGCGGGGACA	0.721000													3	17					0	0	0.004672	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032415	21032415	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21032415G>A	ENST00000381545.3	+	11	1400	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G394E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G394E|LST3_ENST00000540229.1_Missense_Mutation_p.G394E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTTTAGGAGGATTTATCATT	0.284000													19	35					0	0	0.010504	0	0
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:74332991G>A	ENST00000377044.4	-	13	2811	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338000													26	13					0	0	0.005443	0	0
SSFA2	6744	broad.mit.edu	37	2	182767010	182767010	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182767010T>C	ENST00000431877.2	+	8	1409	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	SSFA2_ENST00000428267.2_Silent_p.S257S|SSFA2_ENST00000320370.7_Silent_p.S410S|SSFA2_ENST00000409001.1_Silent_p.S410S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	410						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTGAGGAATCTGGTATTGTAG	0.358000													16	28					0	0	0.006122	0	0
TBC1D15	64786	broad.mit.edu	37	12	72266708	72266708	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:72266708G>A	ENST00000550746.1	+	3	193		c.e3-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTTCTCTAGGATGCCGAAG	0.294000													48	75					0	0	0.003610	0	0
ACOX3	8310	broad.mit.edu	37	4	8411951	8411951	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:8411951G>A	ENST00000356406.5	-	6	752	c.675C>T	c.(673-675)ccC>ccT	p.P225P	ACOX3_ENST00000413009.2_Silent_p.P225P|ACOX3_ENST00000503233.1_Silent_p.P225P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	225					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCACGATAAAGGGATGCAGCC	0.562000													8	21					0	0	0.006214	0	0
CRP	1401	broad.mit.edu	37	1	159683565	159683565	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:159683565C>T	ENST00000255030.5	-	2	528	c.425G>A	c.(424-426)gGa>gAa	p.G142E	CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	142	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CACAGTGTATCCCTTCTTCAG	0.552000													103	461					0	0	0.003610	0	0
AQP4	361	broad.mit.edu	37	18	24436411	24436411	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:24436411C>T	ENST00000383168.4	-	5	864	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	AQP4_ENST00000581374.1_Missense_Mutation_p.G224S|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G224S|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	246				G -> A (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCATAAAGGCCACCAGCGAGG	0.433000													43	64					0	0	0.006999	0	0
LRRC61	65999	broad.mit.edu	37	7	150034461	150034461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150034461G>T	ENST00000359623.4	+	3	1099	c.511G>T	c.(511-513)Gag>Tag	p.E171*	LRRC61_ENST00000323078.7_Nonsense_Mutation_p.E171*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.E171*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	171	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGTGGTAGTGAGTTCTACCA	0.652000													34	39					4.11147e-13	4.53083e-13	0.003755	1	0
CCND1	595	broad.mit.edu	37	11	69456187	69456187	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:69456187G>A	ENST00000227507.2	+	1	333	c.106G>A	c.(106-108)Gag>Aag	p.E36K	CCND1_ENST00000536559.1_Missense_Mutation_p.E36K	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	36	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GAAGGCGGAGGAGACCTGCGC	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			59	23					0	0	0.003610	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640346	83640346	+	Silent	SNP	C	C	T	rs139214465		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:83640346C>T	ENST00000265362.3	-	9	1301	c.987G>A	c.(985-987)acG>acA	p.T329T	SEMA3A_ENST00000436949.1_Silent_p.T329T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	329	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCTGGAAGTCGTAAACACTC	0.294000													24	46					0	0	0.003330	0	0
ITGB7	3695	broad.mit.edu	37	12	53594079	53594079	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:53594079G>A	ENST00000267082.5	-	3	380	c.149C>T	c.(148-150)tCc>tTc	p.S50F	ITGB7_ENST00000550743.2_Missense_Mutation_p.S50F|ITGB7_ENST00000338737.4_Missense_Mutation_p.S50F|ITGB7_ENST00000422257.3_Missense_Mutation_p.S50F	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	50					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTGGCAGGAGGGGGCTGG	0.552000													16	28					0	0	0.002299	0	0
GPR18	2841	broad.mit.edu	37	13	99907627	99907627	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:99907627G>A	ENST00000340807.3	-	3	1056	c.500C>T	c.(499-501)tCc>tTc	p.S167F	GPR18_ENST00000397470.2_Missense_Mutation_p.S167F|GPR18_ENST00000397473.2_Missense_Mutation_p.S167F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	167						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GGCGGGAGTGGAGTCTTTATC	0.488000													31	19					0	0	0.004878	0	0
GPD1	2819	broad.mit.edu	37	12	50501360	50501360	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50501360C>T	ENST00000301149.3	+	6	855	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GPD1_ENST00000548814.1_Missense_Mutation_p.A185V|GPD1_ENST00000547190.1_Intron	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	208					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AATGTAGTGGCCGTGGGGGCT	0.572000													50	91					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9083630	9083630	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9083630G>A	ENST00000397910.4	-	1	8388	c.8185C>T	c.(8185-8187)Ccc>Tcc	p.P2729S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2729	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						ATCTTAGAGGGGGAAGTGGAA	0.468000													34	61					0	0	0.005524	0	0
SBNO1	55206	broad.mit.edu	37	12	123815827	123815827	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:123815827G>A	ENST00000420886.2	-	7	1004	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	SBNO1_ENST00000602750.1_Silent_p.I334I|SBNO1_ENST00000267176.4_Silent_p.I334I|SBNO1_ENST00000602398.1_Silent_p.I335I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	335							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AATTTTCATAGATGATTCCTG	0.448000													38	47					0	0	0.006230	0	0
PDGFRB	5159	broad.mit.edu	37	5	149510178	149510178	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149510178C>T	ENST00000261799.4	-	9	1760	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	431	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTGTCTGTTCCCCACTGTCA	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	90					0	0	0.003610	0	0
LPHN2	23266	broad.mit.edu	37	1	82432110	82432110	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:82432110C>T	ENST00000370728.1	+	15	2799	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	LPHN2_ENST00000370715.1_Silent_p.I705I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Silent_p.I705I|LPHN2_ENST00000271029.4_Silent_p.I718I|LPHN2_ENST00000335786.5_Silent_p.I718I|LPHN2_ENST00000370727.1_Silent_p.I718I|LPHN2_ENST00000319517.6_Silent_p.I705I|LPHN2_ENST00000370725.1_Silent_p.I718I|LPHN2_ENST00000370717.2_Silent_p.I718I|LPHN2_ENST00000370721.1_Silent_p.I643I|LPHN2_ENST00000370713.1_Silent_p.I705I|LPHN2_ENST00000370730.1_Silent_p.I718I|LPHN2_ENST00000394879.1_Silent_p.I705I|LPHN2_ENST00000370723.1_Silent_p.I705I			O95490	LPHN2_HUMAN	latrophilin 2	718					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGTGTTCATCATTTACCGGA	0.363000													15	28					0	0	0.004007	0	0
C3orf30	152405	broad.mit.edu	37	3	118865748	118865748	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:118865748C>T	ENST00000295622.1	+	1	752	c.712C>T	c.(712-714)Cct>Tct	p.P238S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	238										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGACCAAAGTCCTTCTGTACA	0.458000													31	52					0	0	0.012213	0	0
TAPBPL	55080	broad.mit.edu	37	12	6566747	6566747	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6566747G>A	ENST00000266556.7	+	4	906	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TAPBPL_ENST00000545700.1_Intron|TAPBPL_ENST00000544021.1_Intron	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	247	Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GGCAGGGGCAGGCTGTGCGGA	0.657000													10	31					0	0	0.006214	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271902	15271902	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15271902G>A	ENST00000263388.2	-	33	6612	c.6537C>T	c.(6535-6537)gcC>gcT	p.A2179A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2179					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCCTGGAGGGGCAGGTGGGG	0.731000													2	0					0	0	0.004672	0	0
CHD4	1108	broad.mit.edu	37	12	6702774	6702774	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6702774G>A	ENST00000309577.6	-	16	2485	c.2322C>T	c.(2320-2322)tcC>tcT	p.S774S	CHD4_ENST00000544040.1_Silent_p.S767S|CHD4_ENST00000544484.1_Silent_p.S771S|CHD4_ENST00000357008.2_Silent_p.S774S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	774	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGGGGCCTTTGGAATGACCCT	0.557000													25	53					0	0	0.004656	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45218333	45218333	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:45218333C>T	ENST00000352766.7	+	11	1099	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P188S|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P288S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P157S|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P157S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P279S|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P367S																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCTGGTCATCCCTCCCGAAGT	0.463000													24	45					0	0	0.007291	0	0
RP1	6101	broad.mit.edu	37	8	55533886	55533886	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:55533886C>T	ENST00000220676.1	+	2	508	c.360C>T	c.(358-360)gcC>gcT	p.A120A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	120					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGACAAAGCCCGTCGGCGCC	0.716000													33	22					0	0	0.004289	0	0
EVPL	2125	broad.mit.edu	37	17	74004335	74004335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74004335G>A	ENST00000301607.3	-	22	5204	c.4951C>T	c.(4951-4953)Cag>Tag	p.Q1651*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q1673*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1651	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						TCGTAGATCTGGTCCTTCTCG	0.672000													28	26					0	0	0.004656	0	0
GPR98	84059	broad.mit.edu	37	5	90124894	90124894	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:90124894C>T	ENST00000405460.2	+	77	16598	c.16502C>T	c.(16501-16503)tCt>tTt	p.S5501F	GPR98_ENST00000425867.2_Missense_Mutation_p.S1162F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5501					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGTATTTTTCTGTGGGTTCT	0.438000													60	110					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152282112	152282112	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152282112G>A	ENST00000368799.1	-	3	5285	c.5250C>T	c.(5248-5250)tcC>tcT	p.S1750S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1750	Ser-rich.		S -> F (in dbSNP:rs3120647).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGTGGACTCTTGGT	0.607000									Ichthyosis				81	367					0	0	0.003610	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276522	47276522	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:47276522C>T	ENST00000271153.4	+	2	259	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	CYP4B1_ENST00000371923.4_Missense_Mutation_p.H75Y|CYP4B1_ENST00000546128.1_3'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H75Y			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	75					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTCCTGGGCCCACCAGTTCCC	0.562000													10	32					0	0	0.006214	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658238	121658238	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121658238C>T	ENST00000489711.1	+	20	2192	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P571S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	602					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)	TGAAGACATTCCAGCCAACAA	0.433000													28	41					0	0	0.010818	0	0
ECE2	9718	broad.mit.edu	37	3	184008850	184008850	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184008850G>A	ENST00000402825.3	+	17	2211	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	ECE2_ENST00000404464.3_Silent_p.G619G|ECE2_ENST00000359140.4_Silent_p.G590G|ECE2_ENST00000357474.5_Silent_p.G665G|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	737	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAAAGAAGGGAACCTGCGGC	0.597000													15	59					0	0	0.004007	0	0
PKD1L2	114780	broad.mit.edu	37	16	81155284	81155284	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:81155284G>A	ENST00000534142.1	-	0	906				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTACAGGCGGAGGCTCTGCA	0.602000													6	16					0	0	0.001168	0	0
HSF1	3297	broad.mit.edu	37	8	145535489	145535489	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145535489C>T	ENST00000528838.1	+	8	987	c.827C>T	c.(826-828)cCc>cTc	p.P276L	HSF1_ENST00000400780.4_Missense_Mutation_p.P211L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	276	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGCCAGCCCCATGGCCTCC	0.687000													33	9					0	0	0.003271	0	0
ABCC9	10060	broad.mit.edu	37	12	22001175	22001175	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:22001175C>T	ENST00000261200.4	-	23	2774	c.2775G>A	c.(2773-2775)atG>atA	p.M925I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M889I|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.M925I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	925					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTCAGCTTCCATATCCTGCA	0.428000													21	34					0	0	0.012319	0	0
DLG5	9231	broad.mit.edu	37	10	79570962	79570962	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:79570962G>A	ENST00000372391.2	-	23	4358	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S	DLG5_ENST00000372388.2_Silent_p.S1111S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1451					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGGAGAGTGGAGTGGGTAC	0.652000													19	54					0	0	0.010504	0	0
HAP1	9001	broad.mit.edu	37	17	39890869	39890869	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39890869C>T	ENST00000393939.2	-	1	27	c.18G>A	c.(16-18)ttG>ttA	p.L6L	HAP1_ENST00000341193.5_Silent_p.L6L|HAP1_ENST00000347901.4_Silent_p.L6L|HAP1_ENST00000310778.5_Silent_p.L6L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	6					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCACCGGCCCAACCTCTTCG	0.736000													4	9					0	0	0.000602	0	0
STAT6	6778	broad.mit.edu	37	12	57493858	57493858	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57493858G>A	ENST00000300134.3	-	14	1853	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	STAT6_ENST00000556155.1_Missense_Mutation_p.R510C|STAT6_ENST00000543873.2_Missense_Mutation_p.R510C|STAT6_ENST00000537215.2_Missense_Mutation_p.R400C|STAT6_ENST00000454075.3_Missense_Mutation_p.R510C|STAT6_ENST00000538913.2_Missense_Mutation_p.R400C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	510					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTGAAGCCACGGCCCAGCAGG	0.622000													7	5					0	0	0.003080	0	0
DUS3L	56931	broad.mit.edu	37	19	5789331	5789331	+	Nonsense_Mutation	SNP	G	G	A	rs144731277		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:5789331G>A	ENST00000309061.7	-	3	883	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	263					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGGACCTGCTGGGCACCACAG	0.751000													6	13					0	0	0.001984	0	0
ZNF559	84527	broad.mit.edu	37	19	9452399	9452399	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9452399T>A	ENST00000393883.2	+	6	920	c.272T>A	c.(271-273)tTt>tAt	p.F91Y	ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.F155Y|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.F11Y|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.F91Y|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GAGGAACTGTTTGACTTTAAC	0.353000													17	34					0	0	0.007413	0	0
VGLL4	9686	broad.mit.edu	37	3	11643403	11643403	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:11643403G>A	ENST00000273038.3	-	3	523	c.158C>T	c.(157-159)cCc>cTc	p.P53L	VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.P59L|VGLL4_ENST00000404339.1_Missense_Mutation_p.P58L	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCTCTTGCTGGGGCTGATTGG	0.597000													31	53					0	0	0.003755	0	0
EXOC3	11336	broad.mit.edu	37	5	454111	454111	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:454111C>T	ENST00000512944.1	+	4	1180	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	EXOC3_ENST00000315013.5_Silent_p.L331L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	342					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ATCGGAAGACCTGGAAGCCAA	0.527000													9	9					0	0	0.008291	0	0
ACSM5	54988	broad.mit.edu	37	16	20448501	20448501	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:20448501G>A	ENST00000331849.4	+	11	1583	c.1436_splice	c.e11+1	p.S479_splice		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	479					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AATTCTTCAAGGTCAAGCTGT	0.488000													48	91					0	0	0.003610	0	0
PTPN18	26469	broad.mit.edu	37	2	131127711	131127711	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131127711G>A	ENST00000175756.5	+	8	738	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PTPN18_ENST00000347849.3_Missense_Mutation_p.E106K	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	213	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CATGGTGGAGGAAGCCCGTCG	0.597000													47	96					0	0	0.003610	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504643	70504643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:70504643C>T	ENST00000457664.2	-	1	715	c.716G>A	c.(715-717)tGg>tAg	p.W239*	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.W440*|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					GTATGAATTCCATTCTCCCCA	0.323000													11	11					0	0	0.002450	0	0
HSPG2	3339	broad.mit.edu	37	1	22176663	22176663	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:22176663G>A	ENST00000374695.3	-	57	7396	c.7317C>T	c.(7315-7317)gtC>gtT	p.V2439V	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2439	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGATCCGGACCGTGGGGG	0.632000													28	56					0	0	0.007291	0	0
GLB1L	79411	broad.mit.edu	37	2	220103065	220103065	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220103065G>A	ENST00000295759.7	-	14	1561	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Silent_p.Y326Y|GLB1L_ENST00000409640.1_Silent_p.Y326Y|GLB1L_ENST00000392089.2_Silent_p.Y416Y			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	416					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATAGGTTCGGTACAACATGA	0.448000													34	76					0	0	0.003271	0	0
ACAN	176	broad.mit.edu	37	15	89414652	89414652	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:89414652G>A	ENST00000439576.2	+	14	7360	c.6986G>A	c.(6985-6987)gGc>gAc	p.G2329D	ACAN_ENST00000559004.1_Missense_Mutation_p.G2291D|ACAN_ENST00000352105.7_Missense_Mutation_p.G2291D|ACAN_ENST00000561243.1_Missense_Mutation_p.G2329D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2329					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTACCAGGGCCACTGTTAC	0.642000													19	30					0	0	0.010504	0	0
KLHL4	56062	broad.mit.edu	37	X	86890699	86890699	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:86890699G>A	ENST00000373119.4	+	9	1994	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G617R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	617						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G617R(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACATACAATGGATTCTTATA	0.458000													35	5					0	0	0.005524	0	0
SMYD2	56950	broad.mit.edu	37	1	214500988	214500988	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:214500988G>A	ENST00000366957.5	+	7	648	c.626G>A	c.(625-627)tGt>tAt	p.C209Y	SMYD2_ENST00000415093.2_Missense_Mutation_p.C209Y|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	209	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AATCATAGCTGTTGCCCCAAT	0.458000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	46	151					0	0	0.003610	0	0
ZNF417	147687	broad.mit.edu	37	19	58420698	58420698	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58420698A>G	ENST00000312026.5	-	3	1112	c.948T>C	c.(946-948)cgT>cgC	p.R316R	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.R117R|ZNF417_ENST00000595559.1_Silent_p.R315R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	316				R -> L (in Ref. 2; AAH25783).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CAGTGTGAACACGCTGATGGC	0.453000													45	99					0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57378088	57378088	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57378088C>T	ENST00000361249.3	+	10	1489	c.1393C>T	c.(1393-1395)Cac>Tac	p.H465Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	465	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGCCTATCCACGAGGTGCT	0.617000													21	40					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179456111	179456111	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179456111G>A	ENST00000589042.1	-	304	60565	c.60341C>T	c.(60340-60342)aCc>aTc	p.T20114I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T17546I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T18473I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11174I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11241I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11049I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18473							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)			ACTCCCATCGGTTGTCCACTT	0.433000													127	233					0	0	0.003610	0	0
PHRF1	57661	broad.mit.edu	37	11	609257	609257	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:609257C>T	ENST00000264555.5	+	14	3929	c.3801C>T	c.(3799-3801)gcC>gcT	p.A1267A	PHRF1_ENST00000533464.1_Silent_p.A1263A|PHRF1_ENST00000413872.2_Silent_p.A1265A|PHRF1_ENST00000416188.2_Silent_p.A1266A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1267							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCGTGGAGGCCGGACACGTCT	0.622000													43	19					0	0	0.011902	0	0
CCNE1	898	broad.mit.edu	37	19	30313187	30313187	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:30313187T>C	ENST00000262643.3	+	10	1160	c.881T>C	c.(880-882)tTt>tCt	p.F294S	CCNE1_ENST00000357943.5_Missense_Mutation_p.F251S|CCNE1_ENST00000444983.2_Missense_Mutation_p.F279S	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	294					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGCCTTGAATTTCCTTATGGT	0.453000			A		serous ovarian								53	86					0	0	0.003610	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745900	96745900	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:96745900G>A	ENST00000260682.6	+	8	1272	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	420					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCAATTTTAAGAAAAGTAAAT	0.348000													27	32					0	0	0.004656	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702137	60702137	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:60702137C>T	ENST00000005286.4	+	9	1893	c.1740C>T	c.(1738-1740)caC>caT	p.H580H	TMEM132A_ENST00000453848.2_Silent_p.H579H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	579						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACGTGTCCCACCTCGTGGCGC	0.731000													16	3					0	0	0.004990	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715949	19715949	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:19715949G>A	ENST00000284885.3	-	12	1335	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	434	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAATTTATGGACATTTTCAC	0.313000													28	51					0	0	0.010818	0	0
FRY	10129	broad.mit.edu	37	13	32760501	32760501	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:32760501G>A	ENST00000380250.3	+	27	3920	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CACTCCTCTGGATCGTTACAG	0.438000													28	21					0	0	0.005443	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816036	101816036	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:101816036G>A	ENST00000506729.1	-	2	632	c.461C>T	c.(460-462)tCa>tTa	p.S154L	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S154L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S154L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S154L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S154L|SLCO6A1_ENST00000514551.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	154						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGGCCAGATGAAATATCGTA	0.358000													23	61					0	0	0.002299	0	0
MYH4	4622	broad.mit.edu	37	17	10362677	10362677	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:10362677T>C	ENST00000255381.2	-	15	1588	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	493	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATGTGGTGGTTGAAAAACTG	0.473000													46	77					0	0	0.013114	0	0
LAMB4	22798	broad.mit.edu	37	7	107717458	107717458	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:107717458G>A	ENST00000388781.3	-	17	2138	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	LAMB4_ENST00000414450.2_Silent_p.S685S|LAMB4_ENST00000388780.3_Silent_p.S685S|LAMB4_ENST00000205386.4_Silent_p.S685S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	685	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGACATCTATGGAATATTGTA	0.398000													41	46					0	0	0.008740	0	0
TSPAN14	81619	broad.mit.edu	37	10	82271930	82271930	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:82271930G>T	ENST00000429989.2	+	6	704	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	TSPAN14_ENST00000372156.1_Missense_Mutation_p.D161Y|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D144Y|TSPAN14_ENST00000481124.1_Missense_Mutation_p.D38Y|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D104Y|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D161Y	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	161						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGCCCTGAAGACTGGGACCT	0.592000													28	44					9.80776e-20	1.08546e-19	0.006320	1	0
PDE6C	5146	broad.mit.edu	37	10	95394530	95394530	+	Missense_Mutation	SNP	G	G	A	rs148611776		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:95394530G>A	ENST00000371447.3	+	9	1273	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	379	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACCTGTAGACGAAACTGGTTG	0.353000													12	18					0	0	0.001855	0	0
OR2T2	401992	broad.mit.edu	37	1	248616210	248616210	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248616210G>A	ENST00000342927.3	+	1	134	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTTGTGGTGGCTATAAC	0.527000													67	260					0	0	0.003610	0	0
CLPSL2	389383	broad.mit.edu	37	6	35747191	35747191	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:35747191G>A	ENST00000360454.2	+	4	350	c.346G>A	c.(346-348)Gga>Aga	p.G116R	CLPSL2_ENST00000403376.3_Silent_p.K89K|CLPSL2_ENST00000481904.1_3'UTR			Q6UWE3	CF126_HUMAN	colipase-like 2	0					digestion|lipid catabolic process	extracellular region	enzyme activator activity										GCATATCCAAGGACTTGATGT	0.567000													5	7					0	0	0.000602	0	0
PHRF1	57661	broad.mit.edu	37	11	609256	609256	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:609256C>T	ENST00000264555.5	+	14	3928	c.3800C>T	c.(3799-3801)gCc>gTc	p.A1267V	PHRF1_ENST00000533464.1_Missense_Mutation_p.A1263V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1265V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1266V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1267							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGTGGAGGCCGGACACGTC	0.617000													44	19					0	0	0.013114	0	0
CXADR	1525	broad.mit.edu	37	21	18937938	18937938	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:18937938C>T	ENST00000284878.7	+	7	1774	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	CXADR_ENST00000306618.10_Silent_p.A301A|CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000400169.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	342					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGGTAGCTGCCCCTAATCTAA	0.478000													27	47					0	0	0.009535	0	0
GORAB	92344	broad.mit.edu	37	1	170521292	170521292	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:170521292T>C	ENST00000367763.3	+	5	894	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	292	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCAAGAAGTTGGAGGAGTT	0.443000													62	40					0	0	0.003610	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350476	51350476	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:51350476C>T	ENST00000327536.5	-	3	580	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	161										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTGGGCTTCCTTCTTGTTG	0.463000													62	126					0	0	0.003610	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651210	38651210	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:38651210G>A	ENST00000494540.1	+	0	357					NR_003086.1																						TAAATGCTGGGATCATGCCTA	0.363000													19	61					0	0	0.003954	0	0
ECE2	9718	broad.mit.edu	37	3	184005631	184005631	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184005631G>A	ENST00000402825.3	+	11	1624	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	ECE2_ENST00000404464.3_Missense_Mutation_p.V424M|ECE2_ENST00000359140.4_Missense_Mutation_p.V395M|ECE2_ENST00000357474.5_Missense_Mutation_p.V470M|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	542	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGTCCTGTGTGCCGAGGTG	0.572000													21	39					0	0	0.010504	0	0
FBXW10	10517	broad.mit.edu	37	17	18659368	18659368	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:18659368A>G	ENST00000308799.4	+	5	1439	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	FBXW10_ENST00000395667.1_Missense_Mutation_p.N378S|FBXW10_ENST00000395665.4_Missense_Mutation_p.N378S|FBXW10_ENST00000301938.4_Missense_Mutation_p.N378S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AATGAGTACAACCTGTGGACT	0.478000													17	22					0	0	0.012319	0	0
SH3D19	152503	broad.mit.edu	37	4	152053487	152053487	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:152053487G>A	ENST00000409598.4	-	17	3065	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	SH3D19_ENST00000455740.1_Missense_Mutation_p.S633F|SH3D19_ENST00000304527.4_Missense_Mutation_p.S656F|SH3D19_ENST00000427414.2_Missense_Mutation_p.S597F|SH3D19_ENST00000514152.1_Missense_Mutation_p.S633F|SH3D19_ENST00000409252.2_Missense_Mutation_p.S656F|SH3D19_ENST00000424281.1_Missense_Mutation_p.S597F			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	656					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCTACCTGAGAGTTTGAGCC	0.358000													9	26					0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34189893	34189893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34189893G>A	ENST00000373381.4	-	19	3081	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	929	CUB 6.					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)				CTGGAGCCTTGAATGAAGCCA	0.562000													10	23					0	0	0.008291	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165909	6165909	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6165909C>T	ENST00000588304.1	+	7	917	c.471C>T	c.(469-471)atC>atT	p.I157I	ACSBG2_ENST00000591403.1_Silent_p.I207I|ACSBG2_ENST00000252669.5_Silent_p.I207I|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Silent_p.I207I|ACSBG2_ENST00000588485.1_Silent_p.I20I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	207					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAAGTATCCCTGACACCC	0.547000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	42					0	0	0.008361	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817425	26817425	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:26817425G>A	ENST00000444914.3	+	3	752	c.332G>A	c.(331-333)gGa>gAa	p.G111E	SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGCACCGTGGGAGACTCCAGG	0.582000													33	59					0	0	0.012213	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:54914599C>T	ENST00000545554.1	+	30	6181	c.6181C>T	c.(6181-6183)Cat>Tat	p.H2061Y	UNC13C_ENST00000537900.1_Missense_Mutation_p.H2059Y|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.H2061Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACGGGAGATCATAAAGTCAC	0.438000													18	37					0	0	0.008871	0	0
FCGBP	8857	broad.mit.edu	37	19	40368399	40368399	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:40368399C>T	ENST00000221347.6	-	28	12956	c.12949G>A	c.(12949-12951)Gac>Aac	p.D4317N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4317						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGTCACGGTCCCCACCACCC	0.612000													13	206					0	0	0.012319	0	0
CENPE	1062	broad.mit.edu	37	4	104080165	104080165	+	Splice_Site	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:104080165A>G	ENST00000265148.3	-	22	2691		c.e22+1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTGTACCAACCTCGGTCTT	0.398000													14	32					0	0	0.002450	0	0
TYR	7299	broad.mit.edu	37	11	88911295	88911295	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:88911295C>T	ENST00000263321.5	+	1	676	c.174C>T	c.(172-174)atC>atT	p.I58I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	58					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCAGAATATCCTTCTGTCCA	0.547000													25	5					0	0	0.002780	0	0
FCRL5	83416	broad.mit.edu	37	1	157497563	157497563	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:157497563G>A	ENST00000361835.3	-	9	1961	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	FCRL5_ENST00000368191.3_Missense_Mutation_p.H517Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.H602Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H602Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	602	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGATAAAACCAG	0.577000													34	118					0	0	0.002836	0	0
RABL3	285282	broad.mit.edu	37	3	120424951	120424951	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:120424951G>A	ENST00000273375.3	-	4	308	c.279C>T	c.(277-279)ttC>ttT	p.F93F	RABL3_ENST00000483733.1_Silent_p.F93F|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	93	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AGTCGTGTACGAAAATAATAC	0.378000													19	30					0	0	0.010504	0	0
GPR158	57512	broad.mit.edu	37	10	25886964	25886964	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:25886964G>A	ENST00000376351.3	+	11	2768	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	803						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAAATCCAAGGAGGAGACCC	0.542000													24	48					0	0	0.003330	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129669	150129669	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:150129669C>T	ENST00000369124.4	+	5	792	c.514C>T	c.(514-516)Cta>Tta	p.L172L	PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Intron	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	172	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGGGACACCTAATGGCTGT	0.522000													66	36					0	0	0.003610	0	0
TMEM8A	58986	broad.mit.edu	37	16	426578	426578	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:426578C>T	ENST00000431232.2	-	5	1030	c.870G>A	c.(868-870)ggG>ggA	p.G290G	TMEM8A_ENST00000250930.3_Silent_p.G97G	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	290					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAGCCACTGTCCCGAGGGGCC	0.701000													7	21					0	0	0.003080	0	0
C19orf18	147685	broad.mit.edu	37	19	58470085	58470085	+	Splice_Site	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58470085A>C	ENST00000314391.3	-	6	634	c.532_splice	c.e6-1	p.V178_splice		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	178						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGATATAATAACTAAAATGTA	0.308000													12	5					0	0	0.010729	0	0
RPAP1	26015	broad.mit.edu	37	15	41815067	41815067	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41815067G>A	ENST00000304330.4	-	19	2754	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S	RPAP1_ENST00000561603.1_Missense_Mutation_p.P880S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	880	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGACGGGGGCAGCCTCCC	0.632000													14	17					0	0	0.002450	0	0
TNK1	8711	broad.mit.edu	37	17	7286798	7286798	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7286798C>T	ENST00000570896.1	+	5	735	c.289C>T	c.(289-291)Cca>Tca	p.P97S	TNK1_ENST00000311668.2_Missense_Mutation_p.P97S|TNK1_ENST00000576812.1_Missense_Mutation_p.P97S			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	97					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTCGGACAGCCCACGGCACCT	0.637000													14	21					0	0	0.003163	0	0
ANO4	121601	broad.mit.edu	37	12	101493412	101493412	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:101493412G>A	ENST00000392979.3	+	21	2319	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	ANO4_ENST00000299222.9_Missense_Mutation_p.R208K|ANO4_ENST00000392977.3_Missense_Mutation_p.R688K|ANO4_ENST00000550015.1_Missense_Mutation_p.R208K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	688						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGACCTGAAAGGAAAATAAGT	0.358000										HNSCC(74;0.22)			21	29					0	0	0.012319	0	0
AHNAK	79026	broad.mit.edu	37	11	62299867	62299867	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:62299867C>T	ENST00000378024.4	-	5	2296	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	674					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCCCAGACCCTCCAAGTTGA	0.483000													92	30					0	0	0.003610	0	0
OXLD1	339229	broad.mit.edu	37	17	79633556	79633556	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79633556G>A	ENST00000571503.1	-	1	69	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CCDC137_ENST00000329214.8_5'UTR|OXLD1_ENST00000374741.3_Missense_Mutation_p.R18C					oxidoreductase-like domain containing 1																		GCCGAGCCACGGACCGCGGCG	0.766000													3	9					0	0	0.009096	0	0
EPHB3	2049	broad.mit.edu	37	3	184298565	184298565	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184298565C>T	ENST00000330394.2	+	13	2889	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	813	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATAGCCTATCGGAAGTTCAC	0.607000													24	29					0	0	0.003330	0	0
AATK	9625	broad.mit.edu	37	17	79108182	79108182	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79108182C>T	ENST00000326724.4	-	2	199	c.175G>A	c.(175-177)Ggt>Agt	p.G59S		NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	59				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AACCCGATACCGCCCTTCTTA	0.652000													9	30					0	0	0.001368	0	0
PTF1A	256297	broad.mit.edu	37	10	23481536	23481536	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:23481536T>C	ENST00000376504.3	+	1	281	c.77T>C	c.(76-78)tTc>tCc	p.F26S		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	26					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACGACTTCTTCACCGAC	0.657000													115	183					0	0	0.003610	0	0
GBP3	2635	broad.mit.edu	37	1	89486328	89486328	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:89486328T>A	ENST00000370481.4	-	2	297	c.77A>T	c.(76-78)gAa>gTa	p.E26V	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	26						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTCAGAGCTTCTGGATTCGC	0.512000													46	71					0	0	0.003610	0	0
ATP2A3	489	broad.mit.edu	37	17	3839721	3839721	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:3839721G>A	ENST00000309890.7	-	16	2514	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	ATP2A3_ENST00000352011.3_Silent_p.I788I|ATP2A3_ENST00000397035.3_Silent_p.I788I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.I788I|ATP2A3_ENST00000359983.3_Silent_p.I788I|ATP2A3_ENST00000397041.3_Silent_p.I788I	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	788					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCACAGGGATCAGGGCTT	0.632000													17	54					0	0	0.007413	0	0
NRAP	4892	broad.mit.edu	37	10	115411667	115411667	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:115411667C>T	ENST00000369358.4	-	7	815		c.e7-1		NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein							fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATACTCCACCTGATGAGAAG	0.552000													11	14					0	0	0.001855	0	0
MROH2B	133558	broad.mit.edu	37	5	41033239	41033239	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41033239G>A	ENST00000399564.4	-	23	2715	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	MROH2B_ENST00000506092.2_Silent_p.F310F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCTTCTTGTGAAACTCATTT	0.433000													13	24					0	0	0.002450	0	0
GRWD1	83743	broad.mit.edu	37	19	48956137	48956137	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:48956137G>A	ENST00000253237.5	+	7	1429	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	399						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCGACCCCGGACTGGCCGAC	0.697000													17	36					0	0	0.004007	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966992	39966992	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39966992C>T	ENST00000402142.3	+	1	235	c.236_splice	c.e1+1	p.P79_splice	CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Splice_Site_p.P79_splice|CACNA1I_ENST00000404898.1_Splice_Site_p.P79_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.P79_splice	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	79					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGTGCAACCCATATCCTCC	0.632000													18	42					0	0	0.004990	0	0
ARPP21	10777	broad.mit.edu	37	3	35770831	35770831	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:35770831C>T	ENST00000187397.4	+	15	1718	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	ARPP21_ENST00000337271.5_Missense_Mutation_p.S367L|ARPP21_ENST00000417925.1_Missense_Mutation_p.S387L|ARPP21_ENST00000458225.1_Missense_Mutation_p.S387L|ARPP21_ENST00000444190.1_Missense_Mutation_p.S367L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	421	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCTCAGGATCGCTGTCCCGC	0.537000													30	54					0	0	0.004289	0	0
ZIM3	114026	broad.mit.edu	37	19	57646480	57646480	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57646480G>A	ENST00000269834.1	-	5	1610	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTTCTGATGGCTATGAAGG	0.373000													56	73					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34209109	34209109	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34209109G>A	ENST00000373381.4	-	14	2121	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	609	CUB 4.					integral to membrane|plasma membrane	protein binding	p.L609L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCCTGGCCAGGATGAGCCAG	0.587000													24	59					0	0	0.003954	0	0
LGR6	59352	broad.mit.edu	37	1	202287996	202287996	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:202287996G>A	ENST00000367278.3	+	18	2654	c.2565G>A	c.(2563-2565)gcG>gcA	p.A855A	LGR6_ENST00000439764.2_Silent_p.A716A|LGR6_ENST00000255432.7_Silent_p.A803A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	855						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTATGCTGCGGCCGGGGAGC	0.632000													52	93					0	0	0.003610	0	0
MCM2	4171	broad.mit.edu	37	3	127334776	127334776	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:127334776C>A	ENST00000265056.7	+	9	1744	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	500	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGGCCCTGTTCGGAGGGGAGC	0.537000													44	76					1.86633e-21	2.0685e-21	0.003610	1	0
CSMD1	64478	broad.mit.edu	37	8	2820050	2820050	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:2820050C>T	ENST00000602557.1	-	62	10124	c.9569G>A	c.(9568-9570)gGa>gAa	p.G3190E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G3012E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3189E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3013E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3013E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3190E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3190	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAGGATCCCACGAGTAT	0.512000													29	17					0	0	0.012213	0	0
CARD14	79092	broad.mit.edu	37	17	78175584	78175584	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:78175584G>A	ENST00000573882.1	+	16	2429	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000570421.1_Silent_p.L631L|CARD14_ENST00000344227.2_Silent_p.L631L|CARD14_ENST00000392434.2_Intron			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	631	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGCAGTCCTGGAGGACACGA	0.587000													22	74					0	0	0.010504	0	0
USP6	9098	broad.mit.edu	37	17	5064879	5064879	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:5064879G>A	ENST00000574788.1	+	32	5115	c.2885G>A	c.(2884-2886)gGg>gAg	p.G962E	USP6_ENST00000304328.5_Missense_Mutation_p.G645E|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.G962E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	962					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAAAGATGGGAACTCCTGT	0.368000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								27	43					0	0	0.003271	0	0
ROS1	6098	broad.mit.edu	37	6	117709094	117709094	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:117709094T>C	ENST00000368508.3	-	13	2061	c.1863A>G	c.(1861-1863)gaA>gaG	p.E621E	ROS1_ENST00000368507.3_Silent_p.E616E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	621	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATGAGTGACTTCAGGAGGGT	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								44	17					0	0	0.003610	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008109	41008109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41008109G>A	ENST00000352632.3	+	9	1058	c.972G>A	c.(970-972)tgG>tgA	p.W324*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.W324*|SPTBN4_ENST00000344104.3_Nonsense_Mutation_p.W324*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.W324*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.W324*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	324					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTGGCCTGGATCCACCGCA	0.582000													42	50					0	0	0.013114	0	0
SPEG	10290	broad.mit.edu	37	2	220355185	220355185	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220355185C>T	ENST00000312358.7	+	37	9108	c.8976C>T	c.(8974-8976)ttC>ttT	p.F2992F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2992	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)		GGCGAACGTTCGTGGCCAAGA	0.677000													28	29					0	0	0.012213	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096434	73096434	+	Missense_Mutation	SNP	C	C	T	rs149877409		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73096434C>T	ENST00000450736.2	+	4	1091	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	SLC16A5_ENST00000580123.1_Missense_Mutation_p.H226Y|SLC16A5_ENST00000329783.4_Missense_Mutation_p.H226Y|SLC16A5_ENST00000538213.2_Missense_Mutation_p.H266Y			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	226					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CATCCAGCGCCACCTGGCCTT	0.632000													13	30					0	0	0.001855	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768661	24768661	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24768661C>T	ENST00000003912.3	+	5	748	c.33C>T	c.(31-33)tcC>tcT	p.S11S	NIPAL3_ENST00000428131.1_Silent_p.S93S|NIPAL3_ENST00000374399.4_Silent_p.S93S|NIPAL3_ENST00000358028.4_Silent_p.S93S|NIPAL3_ENST00000339255.2_Silent_p.S93S			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGTTCGCCTCCTACGCCTTCG	0.637000													43	71					0	0	0.013114	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940574	21940574	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:21940574G>A	ENST00000542643.2	-	9	602	c.300C>T	c.(298-300)ttC>ttT	p.F100F	RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Silent_p.F100F|RAP1GAP_ENST00000290101.4_Silent_p.F164F|RAP1GAP_ENST00000374761.2_Silent_p.F131F|RAP1GAP_ENST00000374763.2_Silent_p.F100F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	100					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGTAGTAATTGAAATGCTCCT	0.587000													3	11					0	0	0.004672	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161774	151161774	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:151161774G>A	ENST00000367328.1	+	17	4212	c.3900G>A	c.(3898-3900)agG>agA	p.R1300R	PLEKHG1_ENST00000358517.2_Silent_p.R1300R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATCGTAGAAGGAAATCTGACT	0.423000													13	7					0	0	0.001855	0	0
ZNF587	84914	broad.mit.edu	37	19	58370728	58370728	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58370728T>C	ENST00000339656.5	+	3	1130	c.948T>C	c.(946-948)ctT>ctC	p.L316L	ZNF587_ENST00000423137.1_Silent_p.L315L|ZNF587_ENST00000419854.1_Silent_p.L273L|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GCCATCAGCTTGTTCACACTG	0.463000													4	160					0	0	0.010729	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884172	24884172	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24884172G>A	ENST00000382554.3	+	9	3535	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1073					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGATGGAAAGGCTCCCTGCCA	0.637000													34	69					0	0	0.003271	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:5283061C>T	ENST00000546004.1	-	3	1026	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_ENST00000217270.3_Silent_p.T260T			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)			22	34					0	0	0.002299	0	0
COX15	1355	broad.mit.edu	37	10	101476172	101476172	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:101476172C>T	ENST00000370483.5	-	8	1084	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	COX15_ENST00000016171.5_Missense_Mutation_p.R345Q|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'UTR	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	345					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	p.R345L(1)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGGAATTCTCCGAGAGAGGAA	0.458000													36	65					0	0	0.004289	0	0
ZNF674	641339	broad.mit.edu	37	X	46388340	46388340	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:46388340G>A	ENST00000523374.1	-	4	230	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ZNF674_ENST00000414387.2_Missense_Mutation_p.S7L	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GAAGGTCAATGATTCCTGTAA	0.552000													42	7					0	0	0.011902	0	0
OR2W3	343171	broad.mit.edu	37	1	248059071	248059071	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248059071C>T	ENST00000537741.1	+	3	440	c.183C>T	c.(181-183)ttC>ttT	p.F61F	OR2W3_ENST00000360358.3_Silent_p.F61F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATGTACTTCTTCCTCGCCC	0.567000													70	235					0	0	0.003610	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173122	41173122	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:41173122C>A	ENST00000402844.3	-	3	1349	c.369G>T	c.(367-369)gtG>gtT	p.V123V	SLC25A17_ENST00000542412.1_Silent_p.V132V|SLC25A17_ENST00000435456.2_Silent_p.V205V|SLC25A17_ENST00000544408.1_Silent_p.V168V|SLC25A17_ENST00000491545.1_5'UTR			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	205					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CAATGATGAACACATCCAAGG	0.448000													8	23					3.86212e-05	4.21099e-05	0.008291	1	0
ROR1	4919	broad.mit.edu	37	1	64515362	64515362	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:64515362G>A	ENST00000371079.1	+	3	538		c.e3-1		ROR1_ENST00000371080.1_Splice_Site|ROR1_ENST00000482426.1_Splice_Site	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1						transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTGCTCACAGATTCTTACCT	0.552000													36	56					0	0	0.006230	0	0
NLGN1	22871	broad.mit.edu	37	3	173993129	173993129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:173993129C>T	ENST00000457714.1	+	5	1100	c.671C>T	c.(670-672)gCt>gTt	p.A224V	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.A224V|NLGN1_ENST00000401917.3_Missense_Mutation_p.A264V|NLGN1_ENST00000545397.1_Missense_Mutation_p.A224V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	241					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGCGATCAGGCTGCAAAGGGG	0.368000													30	47					0	0	0.004289	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849066	26849066	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:26849066C>T	ENST00000376236.4	+	12	1643	c.1188C>T	c.(1186-1188)atC>atT	p.I396I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	396	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCAGTATATCAAGTATCTCT	0.463000													58	79					0	0	0.003610	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591146	234591146	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:234591146C>T	ENST00000373426.3	+	1	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTCCTCTTTCCTATGTCCCC	0.473000													64	118					0	0	0.003610	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29699056	29699056	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:29699056G>A	ENST00000304863.4	-	2	646	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	75					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ATAACAAACAGAAGCAGGGAC	0.428000													28	44					0	0	0.010818	0	0
ACTN1	87	broad.mit.edu	37	14	69341639	69341639	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:69341639G>A	ENST00000193403.6	-	21	2999	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	ACTN1_ENST00000438964.2_Silent_p.S867S|ACTN1_ENST00000538545.2_Silent_p.S910S|ACTN1_ENST00000394419.4_Silent_p.S894S|ACTN1_ENST00000376839.3_Silent_p.S802S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	872					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.S872S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACCTGGCACGGAGTCGGGGC	0.667000													11	23					0	0	0.010729	0	0
FLNC	2318	broad.mit.edu	37	7	128487821	128487821	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:128487821G>A	ENST00000325888.8	+	25	4620	c.4359G>A	c.(4357-4359)ctG>ctA	p.L1453L	FLNC_ENST00000346177.6_Silent_p.L1453L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1453					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCAGGGCTGGGGGCTGGTG	0.657000													52	67					0	0	0.003610	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:53103599G>A	ENST00000408890.4	+	1	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	79								p.E79K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000													26	33					0	0	0.003954	0	0
PDIA4	9601	broad.mit.edu	37	7	148716090	148716090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:148716090G>A	ENST00000286091.4	-	3	701	c.469C>T	c.(469-471)Cag>Tag	p.Q157*		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	157	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCACCTTCCTGGGTTCTGGAG	0.547000													20	36					0	0	0.010504	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998737	27998737	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:27998737C>T	ENST00000441525.1	-	1	829	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	239								p.D239N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACATTAATATCGTGACCACTC	0.512000													36	6					0	0	0.004289	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668650	71668650	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71668650G>A	ENST00000268485.3	+	3	1194	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	384	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGCCATAAAGGGCTACCGAAA	0.498000													31	42					0	0	0.012213	0	0
CRB1	23418	broad.mit.edu	37	1	197407751	197407751	+	Missense_Mutation	SNP	C	C	A	rs138089138	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:197407751C>A	ENST00000367397.1	+	6	2825	c.1967C>A	c.(1966-1968)aCa>aAa	p.T656K	CRB1_ENST00000367400.3_Missense_Mutation_p.T1275K|CRB1_ENST00000544212.1_Missense_Mutation_p.T756K|CRB1_ENST00000535699.1_Missense_Mutation_p.T1251K|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.T1163K|CRB1_ENST00000538660.1_Missense_Mutation_p.T739K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1275	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						GGCAACTGCACAGAGTTCCAG	0.438000													20	104					2.4624e-09	2.70007e-09	0.008871	1	0
ITK	3702	broad.mit.edu	37	5	156665129	156665129	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:156665129G>A	ENST00000422843.3	+	9	931	c.779G>A	c.(778-780)gGa>gAa	p.G260E		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	260	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAAAGAAGGAGCCTTCATG	0.478000			T	SYK	peripheral T-cell lymphoma								165	281					0	0	0.003610	0	0
PDPK1	5170	broad.mit.edu	37	16	2647217	2647217	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2647217C>T	ENST00000342085.4	+	13	1644	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Missense_Mutation_p.P472S|PDPK1_ENST00000354836.5_Missense_Mutation_p.P475S|PDPK1_ENST00000268673.7_Missense_Mutation_p.P372S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	499	PH.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGGTGAAATTCCTTGGTCACA	0.448000													49	48					0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19468338	19468338	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:19468338G>A	ENST00000219821.5	+	1	567	c.310_splice	c.e1+1	p.G104_splice	TMC5_ENST00000564959.1_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000381414.4_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	350						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACTGTTCAAGGTAGTGAAAT	0.453000													16	16					0	0	0.010504	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499750	104499750	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:104499750G>A	ENST00000361820.3	-	1	1112	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	171					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCCATGGCGAACTAGGGGA	0.607000													13	11					0	0	0.003163	0	0
ZNF488	118738	broad.mit.edu	37	10	48370805	48370805	+	Silent	SNP	G	G	A	rs145714764		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:48370805G>A	ENST00000395702.2	+	2	500	c.273G>A	c.(271-273)ccG>ccA	p.P91P	ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CGCTGCCCCCGAAGACACGTG	0.687000													11	8					0	0	0.010729	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458531	45458531	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458531G>A	ENST00000548424.1	+	0	448																											TGGAGCCAATGGAACGAGTTT	0.493000													7	21					0	0	0.003080	0	0
VPS13D	55187	broad.mit.edu	37	1	12321991	12321991	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12321991C>T	ENST00000358136.3	+	13	1578	c.1448C>T	c.(1447-1449)gCc>gTc	p.A483V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A483V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	483					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTGCAGATGCCTCGTGTATG	0.438000													36	57					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	89947487	89947487	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:89947487G>C	ENST00000405460.2	+	18	3452	c.3356G>C	c.(3355-3357)gGc>gCc	p.G1119A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1119					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCCAAATGGCATTTTTTCT	0.338000													10	22					0	0	0.006214	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962106	10962106	+	Missense_Mutation	SNP	G	G	A	rs115762530	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:10962106G>A	ENST00000240691.2	-	1	661	c.569C>T	c.(568-570)cCc>cTc	p.P190L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	190					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGATAAAGGGAACCATCAC	0.413000													15	36					0	0	0.004990	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439938	51439938	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:51439938A>G	ENST00000262662.1	+	4	2537	c.503A>G	c.(502-504)cAa>cGa	p.Q168R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.Q168R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.Q168R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	168					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACAAATCTTCAATAAACGTGG	0.488000			D		"""glioma, MM"""								17	31					0	0	0.006122	0	0
MAP2	4133	broad.mit.edu	37	2	210517993	210517993	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:210517993T>G	ENST00000360351.4	+	4	605	c.99T>G	c.(97-99)gaT>gaG	p.D33E	MAP2_ENST00000447185.1_Missense_Mutation_p.D33E|MAP2_ENST00000199940.6_Missense_Mutation_p.D33E|MAP2_ENST00000361559.4_Missense_Mutation_p.D33E|MAP2_ENST00000392194.1_Missense_Mutation_p.D33E	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	33					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGATTAAGGATCAAGGCGGAG	0.547000													17	28					0	0	0.004990	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193655	32193655	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:32193655C>T	ENST00000400246.1	+	13	979	c.837C>T	c.(835-837)atC>atT	p.I279I	DEPDC5_ENST00000535622.1_Silent_p.I279I|DEPDC5_ENST00000536766.1_Silent_p.I251I|DEPDC5_ENST00000400242.3_Silent_p.I279I|DEPDC5_ENST00000400249.2_Silent_p.I279I|DEPDC5_ENST00000266091.3_Silent_p.I279I|DEPDC5_ENST00000382105.2_Silent_p.I279I|DEPDC5_ENST00000382111.2_Silent_p.I279I|DEPDC5_ENST00000400248.1_Silent_p.I279I|DEPDC5_ENST00000382112.3_Silent_p.I279I			O75140	DEPD5_HUMAN	DEP domain containing 5	279					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACTCTTCATCCAGTATCCAG	0.443000													11	28					0	0	0.010729	0	0
RNF43	54894	broad.mit.edu	37	17	56432331	56432331	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56432331G>A	ENST00000584437.1	-	9	4280	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Silent_p.L775L|RNF43_ENST00000577716.1_Silent_p.L775L|RNF43_ENST00000583753.1_Silent_p.L734L|RNF43_ENST00000500597.2_Silent_p.L734L|RNF43_ENST00000577625.1_Silent_p.L648L			Q68DV7	RNF43_HUMAN	ring finger protein 43	775						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCTCCTCGAGTTCCTCCT	0.572000													21	44					0	0	0.003330	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217325	26217325	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:26217325C>T	ENST00000303910.2	+	1	161	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	41					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCAACTACTCCGAACGAGTCG	0.607000													38	38					0	0	0.005524	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705059	52705059	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:52705059C>T	ENST00000287727.3	+	4	2142	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S657F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.S657F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S657F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	657					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCTGAGATCTCCACTAGACCA	0.448000													29	55					0	0	0.007291	0	0
SCN10A	6336	broad.mit.edu	37	3	38739881	38739881	+	Silent	SNP	G	G	A	rs139221219		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38739881G>A	ENST00000449082.2	-	27	4829	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1610					sensory perception	voltage-gated sodium channel complex		p.I1610I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAACAGCCCGATGTTGAAGA	0.552000													53	64					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21695568	21695568	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:21695568C>A	ENST00000328843.6	+	29	5109	c.5078C>A	c.(5077-5079)cCa>cAa	p.P1693Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1688Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1693	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGTATGTCCCATTCCAAGCC	0.428000									Kartagener syndrome				18	50					8.34094e-07	9.11368e-07	0.008871	1	0
MARK1	4139	broad.mit.edu	37	1	220805608	220805608	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:220805608G>A	ENST00000402574.1	+	11	1672	c.670G>A	c.(670-672)Gat>Aat	p.D224N	MARK1_ENST00000366918.4_Missense_Mutation_p.D337N|MARK1_ENST00000366917.4_Missense_Mutation_p.D359N	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	359	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCAGAAGTATGATGAAGTTAT	0.303000													72	291					0	0	0.003610	0	0
GLYAT	10249	broad.mit.edu	37	11	58478113	58478113	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:58478113G>A	ENST00000344743.3	-	5	579	c.438C>T	c.(436-438)ttC>ttT	p.F146F	GLYAT_ENST00000529732.1_Silent_p.F146F|GLYAT_ENST00000278400.3_Silent_p.F146F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	146					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATTTCAGCAGGAAAGGAGTCA	0.418000													92	24					0	0	0.003610	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501485	171501485	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:171501485C>T	ENST00000367742.3	+	12	1500	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P420S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P418S|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P418S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	418							protein C-terminus binding										GTTTCAGCATCCACCTCCAGA	0.448000													9	31					0	0	0.008291	0	0
KLHL40	131377	broad.mit.edu	37	3	42727633	42727633	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:42727633G>A	ENST00000287777.4	+	1	623	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_152393.2	NP_689606.2			kelch-like family member 40																		ACTCTCGGCCGACGAGCTCAT	0.677000													7	8					0	0	0.001984	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089680	102089680	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:102089680C>T	ENST00000318222.3	-	1	563	c.181G>A	c.(181-183)Gca>Aca	p.A61T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A61T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A61T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	61					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTCCTGTATGCCGTCTCCTGG	0.587000													49	43					0	0	0.003610	0	0
DHRS1	115817	broad.mit.edu	37	14	24766036	24766036	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24766036C>T	ENST00000288111.7	-	3	478	c.202G>A	c.(202-204)Gag>Aag	p.E68K	DHRS1_ENST00000396813.1_Missense_Mutation_p.E68K	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	68						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		ACTTCACTCTCCTGGCTTGAA	0.547000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	38					0	0	0.008871	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929142	42929142	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:42929142G>A	ENST00000426333.2	-	27	3056	c.2759C>T	c.(2758-2760)cCc>cTc	p.P920L	EFTUD2_ENST00000592576.1_Missense_Mutation_p.P910L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P920L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P885L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	920						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGGCTCCAAGGGGCGGATGAC	0.557000													6	21					0	0	0.004482	0	0
C2CD2	25966	broad.mit.edu	37	21	43309253	43309253	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:43309253G>A	ENST00000380486.3	-	14	2312	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	C2CD2_ENST00000329623.7_Missense_Mutation_p.P536S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	691						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGCTCCACGGGGGCACCGTTC	0.597000													10	21					0	0	0.008291	0	0
PCSK5	5125	broad.mit.edu	37	9	78799588	78799588	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:78799588G>A	ENST00000545128.1	+	17	2735		c.e17-1		PCSK5_ENST00000376752.4_Splice_Site	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						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						TTTTTTAACAGAGAAAAATCT	0.363000													12	5					0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20404152	20404152	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20404152G>A	ENST00000285600.4	+	1	386	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTTGTTGGGAGTGAGATGA	0.433000													27	61					0	0	0.008361	0	0
TARS2	80222	broad.mit.edu	37	1	150469286	150469286	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:150469286G>A	ENST00000369064.3	+	9	956	c.921_splice	c.e9-1	p.E308_splice	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	308					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGACCCCAGGAACAGGAGCT	0.522000													49	56					0	0	0.003610	0	0
SLC1A7	6512	broad.mit.edu	37	1	53559150	53559150	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:53559150G>A	ENST00000371494.4	-	6	907	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	260						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACCGCCACGATCTTCATGA	0.632000													6	15					0	0	0.001984	0	0
CERCAM	51148	broad.mit.edu	37	9	131185509	131185509	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:131185509C>T	ENST00000372842.1	+	4	3303	c.159C>T	c.(157-159)acC>acT	p.T53T	CERCAM_ENST00000372838.4_Silent_p.T131T			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	131					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AAGCCCTCACCTTTGCCAGGA	0.542000													42	33					0	0	0.003610	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774388	140774388	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140774388G>A	ENST00000398604.2	+	1	2008	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1												p.E670K(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCCCCGAAGTCCTGAC	0.627000													15	21					0	0	0.003163	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332526	71332526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71332526C>T	ENST00000242462.4	-	2	303	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	92					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGATTGCGCTCGCGGTCGTTG	0.657000													12	21					0	0	0.001368	0	0
KCTD20	222658	broad.mit.edu	37	6	36454878	36454878	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36454878C>T	ENST00000373731.2	+	8	1577	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.P251S|KCTD20_ENST00000449081.2_Missense_Mutation_p.P230S|KCTD20_ENST00000544295.1_Missense_Mutation_p.P150S	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	396						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AATGCATCACCCACCCCAAGT	0.498000													67	178					0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23863359	23863359	+	Missense_Mutation	SNP	G	G	A	rs147015593		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23863359G>A	ENST00000405093.3	-	21	2673	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	MYH6_ENST00000356287.3_Missense_Mutation_p.S868F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	868					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S868F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGAGCCTCGGACTTCTCCAG	0.572000													40	38					0	0	0.009718	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184786	69184786	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:69184786C>T	ENST00000563094.1	+	8	1015	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CIRH1A_ENST00000314423.7_Silent_p.L327L|CIRH1A_ENST00000352319.4_Silent_p.L327L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCA	0.527000													22	46					0	0	0.010504	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551071	101551071	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:101551071C>T	ENST00000536262.2	-	15	2377	c.1819G>A	c.(1819-1821)Ggg>Agg	p.G607R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	607					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACGAGTCCCATTGCTCTTG	0.368000													14	23					0	0	0.004990	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495058	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:110495058G>A	ENST00000309050.5	-	4	599	c.235C>T	c.(235-237)Cct>Tct	p.P79S	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000548191.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGC	0.502000													11	31					0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13753464	13753464	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:13753464C>T	ENST00000265104.4	-	63	10854	c.10750G>A	c.(10750-10752)Gat>Aat	p.D3584N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3584	AAA 5 (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)					GACAAGTCATCATTTGGCAGA	0.388000									Kartagener syndrome				19	52					0	0	0.010504	0	0
ATRNL1	26033	broad.mit.edu	37	10	117309040	117309040	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:117309040G>A	ENST00000355044.3	+	26	3915	c.3789G>A	c.(3787-3789)cgG>cgA	p.R1263R	ATRNL1_ENST00000423111.2_Silent_p.R314R|ATRNL1_ENST00000303745.7_Silent_p.R56R	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1263						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTCTCGACGGAGAGAGGTAT	0.343000													18	30					0	0	0.006122	0	0
ING4	51147	broad.mit.edu	37	12	6761532	6761532	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6761532C>T	ENST00000341550.4	-	6	596	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ING4_ENST00000446105.2_Missense_Mutation_p.D181N|ING4_ENST00000412586.2_Missense_Mutation_p.D182N|ING4_ENST00000396807.4_Missense_Mutation_p.D185N|ING4_ENST00000444704.2_Missense_Mutation_p.D161N|ING4_ENST00000423703.2_Intron|ING4_ENST00000486287.1_Intron			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	185					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TCCAACACATCAGAGGGGTGG	0.512000													38	80					0	0	0.004878	0	0
ENPEP	2028	broad.mit.edu	37	4	111398175	111398175	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:111398175G>A	ENST00000265162.5	+	1	947	c.605G>A	c.(604-606)gGa>gAa	p.G202E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	202					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCCCTCGTGGGATTTTATAGA	0.498000													31	52					0	0	0.002836	0	0
CAPNS1	826	broad.mit.edu	37	19	36636934	36636934	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36636934C>T	ENST00000246533.3	+	8	1180	c.582C>T	c.(580-582)ctC>ctT	p.L194L	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Silent_p.L204L|CAPNS1_ENST00000590874.1_Silent_p.L164L|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Silent_p.L194L|CAPNS1_ENST00000587718.1_Silent_p.L194L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	194	EF-hand 3.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTAGTGAACTCCCAGGTGCCT	0.557000													76	149					0	0	0.003610	0	0
CANT1	124583	broad.mit.edu	37	17	76993529	76993529	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76993529A>G	ENST00000302345.2	-	2	670	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CANT1_ENST00000591773.1_Missense_Mutation_p.L59P|CANT1_ENST00000392446.5_Missense_Mutation_p.L59P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	59					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTGGGAGCAGAGCAGCCAGAG	0.687000			T	ETV4	prostate								18	15					0	0	0.006122	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324197	61324197	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61324197C>T	ENST00000283752.5	-	7	779	c.636G>A	c.(634-636)atG>atA	p.M212I	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	212					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATTGCCTCATCATCTGTATGG	0.373000													10	16					0	0	0.010729	0	0
USH2A	7399	broad.mit.edu	37	1	216371854	216371854	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:216371854C>T	ENST00000366943.2	-	18	4270	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	USH2A_ENST00000366942.3_Missense_Mutation_p.R1295Q|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1295Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1295	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAAAAACTCGACTTTCCTC	0.373000										HNSCC(13;0.011)			36	52					0	0	0.004289	0	0
MROH2B	133558	broad.mit.edu	37	5	41048515	41048515	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41048515C>T	ENST00000399564.4	-	16	2045	c.1595G>A	c.(1594-1596)gGg>gAg	p.G532E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G87E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTCAAAAGCCCTATTGCACC	0.453000													8	21					0	0	0.004482	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348369	30348369	+	Silent	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:30348369C>G	ENST00000327564.7	+	1	346	c.285C>G	c.(283-285)gcC>gcG	p.A95A	LRRC37B_ENST00000584368.1_Silent_p.A80A|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Silent_p.A68A|LRRC37B_ENST00000341671.7_Silent_p.A68A			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	68						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCCCAGCAGCCCCGGGGGACT	0.602000													37	77					0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9060792	9060792	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9060792G>A	ENST00000397910.4	-	3	26857	c.26654C>T	c.(26653-26655)tCt>tTt	p.S8885F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8887	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						GGTGAAAAGAGAAGTCACCCG	0.493000													40	49					0	0	0.008740	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41680721	41680721	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41680721C>T	ENST00000260361.4	-	4	1141		c.e4-1			NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1						mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAAAAGGAATCTGAAAGAAGA	0.323000													12	35					0	0	0.001368	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449863	85449863	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:85449863C>T	ENST00000393217.2	+	8	1353	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	431										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGAAAATTCAAAGAAGCAG	0.303000													36	62					0	0	0.008740	0	0
FST	10468	broad.mit.edu	37	5	52778781	52778781	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:52778781G>A	ENST00000396947.3	+	2	323	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FST_ENST00000256759.3_Missense_Mutation_p.E53K	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	53	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGAGCAAGGAGGAGTGCTG	0.612000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	25					0	0	0.008871	0	0
TLR1	7096	broad.mit.edu	37	4	38798375	38798375	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:38798375G>A	ENST00000308979.2	-	4	2351	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	TLR1_ENST00000502213.2_Missense_Mutation_p.S693F	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	693	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AACAAAGATGGACTTGTAACT	0.398000													38	69					0	0	0.009718	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22682096	22682096	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:22682096C>T	ENST00000390291.2	+	0	329																											ACCTCAGCCTCCCTGGCCATC	0.562000													63	104					0	0	0.003610	0	0
ERLIN1	10613	broad.mit.edu	37	10	101911954	101911954	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:101911954G>A	ENST00000421367.2	-	11	3688	c.981C>T	c.(979-981)ctC>ctT	p.L327L	ERLIN1_ENST00000407654.3_Silent_p.L327L	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	325					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CCTTAGAGGGGAGTGAGCTTT	0.438000													23	31					0	0	0.002299	0	0
ZFY	7544	broad.mit.edu	37	Y	2847288	2847288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrY:2847288C>T	ENST00000155093.3	+	8	1981	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	ZFY_ENST00000478783.1_3'UTR|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000449237.1_Nonsense_Mutation_p.R477*|ZFY_ENST00000383052.1_Nonsense_Mutation_p.R554*|ZFY_ENST00000431102.1_Nonsense_Mutation_p.R363*	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	554				R -> S (in Ref. 7).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TAAAGGTTTCCGACACCCGTC	0.473000													39	14					0	0	0.008740	0	0
KCNH2	3757	broad.mit.edu	37	7	150648917	150648917	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150648917C>T	ENST00000392968.2	-	5	2396	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	KCNH2_ENST00000430723.3_Missense_Mutation_p.G522R|KCNH2_ENST00000262186.5_Missense_Mutation_p.G522R|KCNH2_ENST00000330883.4_Missense_Mutation_p.G182R			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	522					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TTCAGCAGCCCGATCAGCTGG	0.667000													21	21					0	0	0.002299	0	0
OTOS	150677	broad.mit.edu	37	2	241078633	241078633	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:241078633G>A	ENST00000391989.2	-	5	454	c.224C>T	c.(223-225)cCc>cTc	p.P75L	OTOS_ENST00000319460.1_Missense_Mutation_p.P75L			Q8NHW6	OTOSP_HUMAN	otospiralin	75						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCTCCCCAGGGGGAAGTGGGC	0.642000													23	37					0	0	0.002780	0	0
CCR9	10803	broad.mit.edu	37	3	45943374	45943374	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:45943374G>A	ENST00000357632.2	+	3	1274	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.G353E|CCR9_ENST00000355983.2_Missense_Mutation_p.G353E|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	365					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ACAACCTCAGGAGCACTCTCC	0.498000													14	28					0	0	0.002450	0	0
CCT6A	908	broad.mit.edu	37	7	56122097	56122097	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:56122097G>A	ENST00000275603.4	+	3	456	c.237G>A	c.(235-237)aaG>aaA	p.K79K	CCT6A_ENST00000335503.3_Intron|CCT6A_ENST00000540286.1_Silent_p.K48K	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	79					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAATAGCAAAGGTAGCAACAG	0.388000													77	151					0	0	0.003610	0	0
AGAP3	116988	broad.mit.edu	37	7	150814262	150814262	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150814262C>T	ENST00000397238.2	+	3	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S	AGAP3_ENST00000479901.1_Silent_p.S157S|AGAP3_ENST00000335367.3_Silent_p.S337S|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Silent_p.S157S|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	121	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGGAGGAGTCCCCTGAAGGTG	0.677000													50	48					0	0	0.003610	0	0
DDN	23109	broad.mit.edu	37	12	49391080	49391080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:49391080G>A	ENST00000421952.2	-	2	1600	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	527	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						Tcgcccccgcggcccccgccg	0.682000													4	10					0	0	0.009096	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704332	56704332	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56704332T>A	ENST00000586855.2	-	2	403	c.90A>T	c.(88-90)gaA>gaT	p.E30D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E30D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAGTTGAGTTTCTGGGGACG	0.557000													9	8					0	0	0.004482	0	0
HOXB1	3211	broad.mit.edu	37	17	46608044	46608044	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:46608044G>A	ENST00000239174.6	-	1	315	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	HOXB1_ENST00000577092.1_Missense_Mutation_p.P75S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	75						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGGAAGGGCACCCCCAGG	0.677000													27	70					0	0	0.004656	0	0
GUCY2C	2984	broad.mit.edu	37	12	14829847	14829847	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:14829847G>A	ENST00000261170.3	-	7	1025	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	297					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GACAGCGTCAGAACAAGGACA	0.348000													15	31					0	0	0.004990	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529099	138529099	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138529099C>A	ENST00000440172.1	-	18	5463	c.5415G>T	c.(5413-5415)ccG>ccT	p.P1805P	KIAA1549_ENST00000422774.1_Silent_p.P1805P|KIAA1549_ENST00000242365.4_Silent_p.P1755P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1805						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGCCACCGACGGCATCTCCT	0.577000			O	BRAF	pilocytic astrocytoma								30	31					8.53417e-09	9.35128e-09	0.002836	1	0
FCGBP	8857	broad.mit.edu	37	19	40368400	40368400	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:40368400C>T	ENST00000221347.6	-	28	12955	c.12948G>A	c.(12946-12948)ggG>ggA	p.G4316G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4316						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTCACGGTCCCCACCACCCA	0.612000													13	204					0	0	0.012319	0	0
ADAM18	8749	broad.mit.edu	37	8	39466603	39466603	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:39466603A>G	ENST00000265707.5	+	4	276	c.231A>G	c.(229-231)gaA>gaG	p.E77E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.E77E|ADAM18_ENST00000520772.1_Silent_p.E77E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	77					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATATAATGAAACTGGATCTT	0.244000													23	9					0	0	0.008361	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545000	196545000	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:196545000C>T	ENST00000409086.3	+	2	509	c.234C>T	c.(232-234)tcC>tcT	p.S78S	SLC39A10_ENST00000359634.5_Silent_p.S78S|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	78					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAAGATTATCCTTTTTTGGTT	0.338000													25	40					0	0	0.006320	0	0
SHC1	6464	broad.mit.edu	37	1	154938947	154938947	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:154938947G>A	ENST00000448116.2	-	8	1250	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	SHC1_ENST00000368453.4_Missense_Mutation_p.P234S|SHC1_ENST00000368450.1_Missense_Mutation_p.P234S|SHC1_ENST00000368449.4_Missense_Mutation_p.P115S|SHC1_ENST00000368445.5_Missense_Mutation_p.P344S|SHC1_ENST00000606391.1_Missense_Mutation_p.P145S	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	344	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTCAGGTGGCTCTTCCTCC	0.597000													5	25					0	0	0.000602	0	0
C1S	716	broad.mit.edu	37	12	7173252	7173252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:7173252G>A	ENST00000406697.1	+	10	1477	c.849G>A	c.(847-849)tgG>tgA	p.W283*	C1S_ENST00000402681.3_Nonsense_Mutation_p.W116*|C1S_ENST00000360817.5_Nonsense_Mutation_p.W283*|C1S_ENST00000328916.3_Nonsense_Mutation_p.W283*			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAGGGCTGGAAACTTCGCT	0.428000													20	37					0	0	0.003954	0	0
PLOD1	5351	broad.mit.edu	37	1	12004676	12004676	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12004676C>T	ENST00000376369.3	+	2	219	c.174C>T	c.(172-174)tcC>tcT	p.S58S	PLOD1_ENST00000196061.4_Intron|PLOD1_ENST00000485046.1_Intron			Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	25					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGAGCCCTTCCCCAAGTGTGA	0.632000													7	15					0	0	0.004482	0	0
CACNA1D	776	broad.mit.edu	37	3	53787613	53787613	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:53787613C>T	ENST00000288139.3	+	30	3868	c.3750C>T	c.(3748-3750)tcC>tcT	p.S1250S	CACNA1D_ENST00000350061.5_Silent_p.S1230S|CACNA1D_ENST00000422281.2_Silent_p.S1230S|CACNA1D_ENST00000540742.1_Silent_p.S137S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1230					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACGAGCAGTCCAAGATGTTCA	0.517000													23	41					0	0	0.002780	0	0
AATK	9625	broad.mit.edu	37	17	79108181	79108181	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79108181C>T	ENST00000326724.4	-	2	200	c.176G>A	c.(175-177)gGt>gAt	p.G59D		NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	59				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAACCCGATACCGCCCTTCTT	0.647000													9	30					0	0	0.010729	0	0
FMNL2	114793	broad.mit.edu	37	2	153475648	153475648	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:153475648C>T	ENST00000288670.9	+	14	1970	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	535	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACCACTGCCTCCCTCATCAGA	0.527000													9	15					0	0	0.008291	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435975	5435975	+	Silent	SNP	G	G	A	rs142943186	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:5435975G>A	ENST00000380419.3	-	4	883	c.846C>T	c.(844-846)atC>atT	p.I282I	TUBAL3_ENST00000479328.1_Silent_p.I242I	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	282					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGCAGAGACGATGGGGGCGA	0.517000													44	80					0	0	0.003610	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638111	19638111	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19638111C>T	ENST00000555938.1	+	3	207	c.195C>T	c.(193-195)ttC>ttT	p.F65F	NDUFA13_ENST00000428459.2_Silent_p.F65F|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Silent_p.F65F|NDUFA13_ENST00000503283.1_Silent_p.F65F|NDUFA13_ENST00000252576.5_Silent_p.F148F																							TCGAGGACTTCGAGGCTCGCA	0.637000													19	28					0	0	0.002299	0	0
PCLO	27445	broad.mit.edu	37	7	82584810	82584810	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82584810C>T	ENST00000423517.2	-	5	5796	c.5459G>A	c.(5458-5460)aGg>aAg	p.R1820K	PCLO_ENST00000333891.8_Missense_Mutation_p.R1820K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1751					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCCTTTCCCTTCTTCTCTG	0.428000													136	169					0	0	0.003610	0	0
PYGL	5836	broad.mit.edu	37	14	51378932	51378932	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:51378932C>G	ENST00000216392.7	-	14	2042	c.1710G>C	c.(1708-1710)agG>agC	p.R570S	PYGL_ENST00000532462.1_Missense_Mutation_p.R570S|PYGL_ENST00000544180.2_Missense_Mutation_p.R536S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	570				R -> S (in Ref. 2; AAC17450).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACTCATGTATCCTCTTCACCT	0.478000													8	139					0	0	0.004482	0	0
DMXL2	23312	broad.mit.edu	37	15	51829948	51829948	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:51829948G>A	ENST00000251076.5	-	11	1641	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	DMXL2_ENST00000543779.2_Silent_p.L452L|DMXL2_ENST00000449909.3_Silent_p.L452L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	452						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCTATCCAGGGATAAATCT	0.333000													7	23					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82585408	82585408	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82585408C>T	ENST00000423517.2	-	5	5198	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1621K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1552					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCATCTTCATCAATGCTT	0.413000													222	320					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906415	164906415	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:164906415G>A	ENST00000475390.1	-	2	2647	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P735L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	735						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGACCCACGGGAGGGGCCTT	0.567000										HNSCC(40;0.11)			14	27					0	0	0.003163	0	0
CRB1	23418	broad.mit.edu	37	1	197407750	197407750	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:197407750A>C	ENST00000367397.1	+	6	2824	c.1966A>C	c.(1966-1968)Aca>Cca	p.T656P	CRB1_ENST00000367400.3_Missense_Mutation_p.T1275P|CRB1_ENST00000544212.1_Missense_Mutation_p.T756P|CRB1_ENST00000535699.1_Missense_Mutation_p.T1251P|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.T1163P|CRB1_ENST00000538660.1_Missense_Mutation_p.T739P			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1275	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						AGGCAACTGCACAGAGTTCCA	0.443000													18	106					0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31591431	31591431	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:31591431T>C	ENST00000379416.3	-	19	2124	c.2076A>G	c.(2074-2076)gaA>gaG	p.E692E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	692					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGCTGGTAGTTCTTCATAGG	0.507000													17	36					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196722234	196722234	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:196722234G>A	ENST00000312428.6	-	44	8381	c.8281C>T	c.(8281-8283)Cct>Tct	p.P2761S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2761	Stalk (By similarity).				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						TAAGCTGGAGGAATATTGTCC	0.383000													16	35					0	0	0.003163	0	0
KCND3	3752	broad.mit.edu	37	1	112321074	112321074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:112321074C>T	ENST00000315987.2	-	6	1981	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	KCND3_ENST00000369697.1_Intron|KCND3_ENST00000302127.4_Intron	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	501						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTGGAGGTTCGTACAGATAA	0.413000													24	59					0	0	0.005443	0	0
TCTN2	79867	broad.mit.edu	37	12	124171515	124171515	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:124171515C>T	ENST00000303372.5	+	6	825	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P232S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	233					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGATTGGTTTCCCTTTCTGTG	0.567000													106	323					0	0	0.003610	0	0
PMP2	5375	broad.mit.edu	37	8	82355666	82355666	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:82355666G>A	ENST00000256103.2	-	4	502	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PMP2_ENST00000519260.1_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	122						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGCACACCACGCCCTTCATTT	0.313000													48	20					0	0	0.003610	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474984	140474984	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140474984C>T	ENST00000194155.4	+	1	758	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTGGATCGCGAGGAGCA	0.507000													12	16					0	0	0.010729	0	0
GSAP	54103	broad.mit.edu	37	7	76942807	76942807	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:76942807G>A	ENST00000257626.7	-	28	2347	c.2269C>T	c.(2269-2271)Ccg>Tcg	p.P757S	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.P78S	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		AGTATTACCGGAGGAAGCCGC	0.348000													9	12					0	0	0.004482	0	0
TET1	80312	broad.mit.edu	37	10	70441225	70441225	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:70441225C>T	ENST00000373644.4	+	9	5103	c.4894C>T	c.(4894-4896)Cca>Tca	p.P1632S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1632					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCAGTATGCTCCAGTAGCTTA	0.358000													16	23					0	0	0.008871	0	0
MYOM3	127294	broad.mit.edu	37	1	24392359	24392359	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24392359C>T	ENST00000329601.7	-	30	3724	c.3562G>A	c.(3562-3564)Ggg>Agg	p.G1188R	MYOM3_ENST00000330966.7_Intron|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Intron|MYOM3_ENST00000374434.3_Intron			Q5VTT5	MYOM3_HUMAN	myomesin 3	225	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAAGTGAGCCCTGAAGCTGGA	0.592000													30	57					0	0	0.006320	0	0
STC2	8614	broad.mit.edu	37	5	172755148	172755148	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:172755148C>T	ENST00000265087.4	-	1	1358	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	17					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAAAGGTGGCCAACACCAAA	0.632000													29	64					0	0	0.009535	0	0
GLS	2744	broad.mit.edu	37	2	191792205	191792205	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:191792205C>T	ENST00000320717.3	+	12	1680	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	GLS_ENST00000338435.4_Silent_p.F474F|GLS_ENST00000409626.1_Silent_p.F45F	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	474					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTTTGCTTTCCATGTAAGTA	0.368000													13	32					0	0	0.001855	0	0
NRK	203447	broad.mit.edu	37	X	105152852	105152852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:105152852C>T	ENST00000428173.2	+	13	1525	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q407*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	407	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGGCACTTCAGCAGCTACA	0.582000										HNSCC(51;0.14)			35	10					0	0	0.005524	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668540	94668540	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94668540C>T	ENST00000260526.6	-	10	1070	c.888G>A	c.(886-888)agG>agA	p.R296R	ARHGAP29_ENST00000370217.3_Silent_p.R296R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	296					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCATTTTTCCTTCCAAGTA	0.294000													25	60					0	0	0.003954	0	0
FBLN5	10516	broad.mit.edu	37	14	92336646	92336646	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:92336646G>A	ENST00000267620.10	-	12	1561	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	FBLN5_ENST00000342058.4_Silent_p.I423I|FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000556154.1_Silent_p.I428I			Q9UBX5	FBLN5_HUMAN	fibulin 5	423					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGTTGACAGTGATCATTTCCA	0.577000													52	99					0	0	0.003610	0	0
CCDC173	129881	broad.mit.edu	37	2	170502525	170502525	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170502525T>C	ENST00000447353.1	-	9	1590	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CCTGTACAGCTTTTACAAGAG	0.443000													4	179					0	0	0.001168	0	0
PANX3	116337	broad.mit.edu	37	11	124481543	124481543	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124481543G>A	ENST00000284288.2	+	1	158	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	31					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACTGCGTCTGGAACTGCCCCT	0.587000													29	11					0	0	0.010818	0	0
ITLN1	55600	broad.mit.edu	37	1	160853271	160853271	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:160853271G>A	ENST00000326245.3	-	3	219	c.104C>T	c.(103-105)cCa>cTa	p.P35L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	35	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGCAGAGATGGAGACGAAGA	0.443000													29	90					0	0	0.005524	0	0
THEMIS	387357	broad.mit.edu	37	6	128134289	128134289	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:128134289C>A	ENST00000368250.1	-	5	1758	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	THEMIS_ENST00000543064.1_Silent_p.T499T|THEMIS_ENST00000537166.1_Silent_p.T464T|THEMIS_ENST00000368248.2_Silent_p.T499T			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	499	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCCAGCACTCCGTGGGGTTGG	0.478000													17	13					5.01169e-05	5.46056e-05	0.004990	1	0
SH2D3A	10045	broad.mit.edu	37	19	6763733	6763733	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6763733G>A	ENST00000437152.3	-	2	143	c.11C>T	c.(10-12)aCc>aTc	p.T4I	SH2D3A_ENST00000245908.6_Silent_p.D9D			Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	0					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCCAGCAAGGTCTTCTCCAT	0.602000													23	39					0	0	0.009535	0	0
MRC2	9902	broad.mit.edu	37	17	60742216	60742216	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:60742216C>T	ENST00000303375.5	+	2	828	c.426C>T	c.(424-426)tcC>tcT	p.S142S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	142	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCAACATATCCAAGCCTGGCA	0.612000													21	52					0	0	0.002299	0	0
EVPL	2125	broad.mit.edu	37	17	74011352	74011352	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74011352G>A	ENST00000301607.3	-	16	2237	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	EVPL_ENST00000586740.1_Missense_Mutation_p.P684S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	662	Globular 1.				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						GGTTCAGCAGGGATGGGGGCC	0.687000													3	8					0	0	0.004672	0	0
WDR11	55717	broad.mit.edu	37	10	122665387	122665387	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:122665387G>A	ENST00000263461.6	+	27	3537		c.e27-1		WDR11_ENST00000604509.1_Splice_Site	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTCTTTCTCAGGTCCGTTTGA	0.408000													25	53					0	0	0.004656	0	0
ITGAM	3684	broad.mit.edu	37	16	31340550	31340550	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31340550C>T	ENST00000544665.3	+	24	2868	c.2795_splice	c.e24-1	p.H933_splice	ITGAM_ENST00000287497.8_Splice_Site_p.H932_splice	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	932					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCCCTTCAGCCATGGGGTCTC	0.542000													6	13					0	0	0.001984	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793412	21793412	+	Missense_Mutation	SNP	G	G	A	rs61751268		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21793412G>A	ENST00000206660.6	+	15	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.G105E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G708E|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G746E|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	746			G -> E (in LCA6).		response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAGAGTTCGGGGTTCTAGAG	0.493000													5	16					0	0	0.003080	0	0
CLIC6	54102	broad.mit.edu	37	21	36081686	36081686	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:36081686G>A	ENST00000360731.3	+	6	1803	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	CLIC6_ENST00000349499.2_Silent_p.R583R			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	601	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGCCCTGAGGAAGCTGGATA	0.453000													27	44					0	0	0.009535	0	0
PPP2R4	5524	broad.mit.edu	37	9	131899968	131899968	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:131899968C>T	ENST00000337738.1	+	9	1155	c.888C>T	c.(886-888)acC>acT	p.T296T	PPP2R4_ENST00000393370.2_Silent_p.T261T|PPP2R4_ENST00000452489.2_Silent_p.T296T|PPP2R4_ENST00000348141.5_Silent_p.T267T|PPP2R4_ENST00000358994.4_Silent_p.T261T|PPP2R4_ENST00000355007.3_Silent_p.T219T|PPP2R4_ENST00000357197.4_Silent_p.T232T|PPP2R4_ENST00000347048.4_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	296					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGTTTATTACCGAGGTGAGGA	0.547000													10	6					0	0	0.006214	0	0
WAPAL	23063	broad.mit.edu	37	10	88218804	88218804	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:88218804C>T	ENST00000298767.5	-	12	3071	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	WAPAL_ENST00000372075.1_Missense_Mutation_p.E134K|WAPAL_ENST00000263070.7_Missense_Mutation_p.E134K	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	867	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTTTGATTTTCGGGATTATGC	0.318000													17	31					0	0	0.010504	0	0
RP1L1	94137	broad.mit.edu	37	8	10464599	10464599	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:10464599C>T	ENST00000382483.3	-	4	7232	c.7009G>A	c.(7009-7011)Gag>Aag	p.E2337K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2337					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)		GCCTTCCTCTCTGCATGAGGG	0.547000													137	50					0	0	0.003610	0	0
CD207	50489	broad.mit.edu	37	2	71058882	71058882	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:71058882C>T	ENST00000410009.3	-	5	831	c.786G>A	c.(784-786)ggG>ggA	p.G262G		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	262	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACCAGTCCCCTTCCATCC	0.567000													34	61					0	0	0.006999	0	0
PLEC	5339	broad.mit.edu	37	8	145003928	145003928	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145003928G>A	ENST00000322810.4	-	23	3389	c.3220C>T	c.(3220-3222)Ctg>Ttg	p.L1074L	PLEC_ENST00000345136.3_Silent_p.L937L|PLEC_ENST00000357649.2_Silent_p.L941L|PLEC_ENST00000436759.2_Silent_p.L964L|PLEC_ENST00000354958.2_Silent_p.L915L|PLEC_ENST00000398774.2_Silent_p.L905L|PLEC_ENST00000356346.3_Silent_p.L923L|PLEC_ENST00000354589.3_Silent_p.L937L|PLEC_ENST00000527096.1_Silent_p.L960L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1074	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTCCCGCAGGAAGGCCTGG	0.692000													12	6					0	0	0.001855	0	0
TNPO3	23534	broad.mit.edu	37	7	128645162	128645162	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:128645162A>T	ENST00000393245.1	-	5	977	c.604T>A	c.(604-606)Ttt>Att	p.F202I	TNPO3_ENST00000482320.1_Missense_Mutation_p.F136I|TNPO3_ENST00000471166.1_Missense_Mutation_p.F202I|TNPO3_ENST00000471234.1_Missense_Mutation_p.F202I|TNPO3_ENST00000265388.5_Missense_Mutation_p.F202I	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	202					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAACAGCGAAAAACCTTCATA	0.318000													48	62					0	0	0.003610	0	0
ITGAM	3684	broad.mit.edu	37	16	31341482	31341482	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31341482G>A	ENST00000544665.3	+	26	3131	c.3060G>A	c.(3058-3060)gtG>gtA	p.V1020V	ITGAM_ENST00000287497.8_Silent_p.V1019V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1019					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGCCCCCGTGGTGGTGAGAA	0.602000													7	12					0	0	0.003080	0	0
ETS2	2114	broad.mit.edu	37	21	40191432	40191432	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:40191432C>T	ENST00000360214.3	+	9	1277	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	ETS2_ENST00000360938.3_Missense_Mutation_p.P273S	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	273					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GCCAGGGACTCCCAAAGACCA	0.547000													19	27					0	0	0.008871	0	0
ADGRG6	57211	broad.mit.edu	37	6	142725021	142725021	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:142725021G>A	ENST00000230173.6	+	14	2514	c.2038G>A	c.(2038-2040)Gct>Act	p.A680T	GPR126_ENST00000367609.3_Missense_Mutation_p.A680T|GPR126_ENST00000367608.2_Missense_Mutation_p.A652T|GPR126_ENST00000296932.8_Missense_Mutation_p.A652T	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A680P(1)|p.A651P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCGGAACTTGGCTCTCAGCGT	0.368000													21	19					0	0	0.010504	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369384	20369384	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:20369384G>A	ENST00000593655.1	-	0	199																											AACCTCTTATGAACCCAACCA	0.398000													31	62					0	0	0.008361	0	0
NTRK1	4914	broad.mit.edu	37	1	156844179	156844179	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:156844179C>T	ENST00000524377.1	+	9	1223	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	NTRK1_ENST00000358660.3_Intron|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	394					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGCAGTCTCCTTCTCGCCGG	0.602000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			77	259					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3235332	3235332	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:3235332G>A	ENST00000217939.6	-	6	6544	c.6390C>T	c.(6388-6390)tcC>tcT	p.S2130S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2130	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTGCGCGCGGAGCCTACCA	0.667000													20	2					0	0	0.007413	0	0
AKAP10	11216	broad.mit.edu	37	17	19835231	19835231	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:19835231G>A	ENST00000225737.6	-	10	1685	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	510					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGAACCGAATGGATGAGATCA	0.433000													15	33					0	0	0.003163	0	0
NTNG1	22854	broad.mit.edu	37	1	107938086	107938086	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:107938086C>T	ENST00000542803.1	+	5	1775	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370070.2_Missense_Mutation_p.P356L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.P356L|NTNG1_ENST00000370074.4_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	356	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGTTTCAGTCCCTATCTTACC	0.358000													64	149					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435596	18435596	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:18435596G>A	ENST00000433979.1	+	2	697	c.581G>A	c.(580-582)aGg>aAg	p.R194K	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.R194K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R194K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R194K|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	194					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAGAATAAAAGGAGTGGACAT	0.383000													65	85					0	0	0.003610	0	0
TEP1	7011	broad.mit.edu	37	14	20846647	20846647	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20846647G>A	ENST00000262715.5	-	38	5440	c.5400C>T	c.(5398-5400)ccC>ccT	p.P1800P	TEP1_ENST00000545983.1_Silent_p.P138P|TEP1_ENST00000556935.1_Silent_p.P1692P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1800					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCAGGGACTTGGGGTAGGTGT	0.582000													10	31					0	0	0.001368	0	0
PCTP	58488	broad.mit.edu	37	17	53851151	53851151	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:53851151C>T	ENST00000576183.1	+	4	449	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Missense_Mutation_p.R136W|PCTP_ENST00000268896.5_Missense_Mutation_p.R136W|PCTP_ENST00000325214.6_Missense_Mutation_p.R64W			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	136	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			GATCCTGGCCCGGAGCACCTC	0.587000													11	37					0	0	0.010729	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815820	179815820	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:179815820G>A	ENST00000367612.3	-	6	1186	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	267						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTGGCCTGGAAATTTATCT	0.493000													22	100					0	0	0.002780	0	0
KLHL23	151230	broad.mit.edu	37	2	170592479	170592479	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170592479G>A	ENST00000392647.2	+	2	1199	c.955G>A	c.(955-957)Gga>Aga	p.G319R	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.G319R	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	319										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TACATGTTTAGGACCCAACAT	0.418000													43	66					0	0	0.011902	0	0
NUP214	8021	broad.mit.edu	37	9	134073012	134073012	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:134073012C>A	ENST00000359428.5	+	29	4275	c.4131C>A	c.(4129-4131)ccC>ccA	p.P1377P	NUP214_ENST00000451030.1_Silent_p.P1378P|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Silent_p.P1367P|NUP214_ENST00000483497.2_Silent_p.P203P			P35658	NU214_HUMAN	nucleoporin 214kDa	1377	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTACTGCCCCCCCGGTGTTAG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								27	16					4.72057e-08	5.16888e-08	0.003954	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458239	45458239	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458239G>A	ENST00000548424.1	+	0	448																											TTTCCACATGGAACATAGAAT	0.463000													3	5					0	0	0.004672	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526645	173526645	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:173526645A>C	ENST00000367714.3	-	10	1471	c.1049T>G	c.(1048-1050)tTg>tGg	p.L350W	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L248W|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	350					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATAGTAAGCAACCTGTGGAG	0.299000													85	120					0	0	0.003610	0	0
ITGAE	3682	broad.mit.edu	37	17	3646903	3646903	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:3646903C>T	ENST00000263087.4	-	19	2426	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	776					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCAGTCCTCCTCACAGAGCT	0.512000													52	95					0	0	0.003610	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974915	79974915	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79974915C>T	ENST00000306729.7	+	16	1953	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P473L|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.P525L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	525							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGTCCCCCCTGAGCCCATC	0.692000			T	TFE3	alveolar soft part sarcoma								12	16					0	0	0.004007	0	0
CABIN1	23523	broad.mit.edu	37	22	24456409	24456409	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24456409C>T	ENST00000398319.2	+	12	1807	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	CABIN1_ENST00000263119.5_Silent_p.F474F|CABIN1_ENST00000405822.2_Silent_p.F424F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	474					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCATGAGTTCCTGCTGGAGA	0.537000													16	37					0	0	0.007413	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:26751332G>A	ENST00000396641.2	+	2	761	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_ENST00000417744.1_Missense_Mutation_p.E57K|LRRC3B_ENST00000456208.2_Missense_Mutation_p.E57K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000													25	55					0	0	0.003954	0	0
THAP9	79725	broad.mit.edu	37	4	83839810	83839810	+	Silent	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:83839810A>T	ENST00000302236.5	+	5	2496	c.2445A>T	c.(2443-2445)gtA>gtT	p.V815V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	815							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCTTTTTGTAGATGTGAATA	0.313000													17	39					0	0	0.008871	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150269947C>T	ENST00000255945.2	+	3	964	c.789C>T	c.(787-789)atC>atT	p.I263I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.I277I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000													16	21					0	0	0.004990	0	0
FUT2	2524	broad.mit.edu	37	19	49206783	49206783	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49206783C>T	ENST00000425340.2	+	2	687	c.570C>T	c.(568-570)agC>agT	p.S190S	FUT2_ENST00000391876.4_Silent_p.S190S	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	190					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGAACGGGAGCCGGCCGGGCA	0.647000													17	42					0	0	0.004007	0	0
DUSP27	92235	broad.mit.edu	37	1	167064135	167064135	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:167064135G>A	ENST00000361200.2	+	2	215	c.49G>A	c.(49-51)Gag>Aag	p.E17K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E17K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E17K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	17					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCAAGCGAGGAGGACGAAGC	0.572000													11	30					0	0	0.001368	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482416	102482416	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:102482416A>T	ENST00000360184.4	+	36	7630	c.7466A>T	c.(7465-7467)tAc>tTc	p.Y2489F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2489					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGCGCTACATTCAGGTC	0.617000													4	6					0	0	0.009096	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212600	26212600	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:26212600A>T	ENST00000379034.1	+	2	786	c.637A>T	c.(637-639)Aaa>Taa	p.K213*		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	213	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTTTGAGAAGAAAGAGTCCAT	0.473000													53	8					0	0	0.003610	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406029	39406029	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39406029C>T	ENST00000334109.2	+	1	91	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	19	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGCAGGACCACCT	0.617000													18	129					0	0	0.005443	0	0
ATL3	25923	broad.mit.edu	37	11	63396855	63396855	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:63396855G>A	ENST00000398868.3	-	13	1838	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	ATL3_ENST00000538786.1_Missense_Mutation_p.S503F|ATL3_ENST00000332645.4_Missense_Mutation_p.S548F	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	521					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GGCCTGAGTGGAATTACCGAT	0.368000													18	12					0	0	0.012319	0	0
BRD4	23476	broad.mit.edu	37	19	15349758	15349758	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15349758G>A	ENST00000263377.2	-	19	4037	c.3816C>T	c.(3814-3816)gcC>gcT	p.A1272A		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1272					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCCCGCCGGGCCTGCTCCA	0.697000			T	C15orf55	lethal midline carcinoma of young people								3	6					0	0	0.000602	0	0
WNT8B	7479	broad.mit.edu	37	10	102222947	102222947	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:102222947G>A	ENST00000343737.5	+	1	150	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	8					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AAAGCCTTCTGTGTACATCTG	0.433000													30	54					0	0	0.003755	0	0
SYT17	51760	broad.mit.edu	37	16	19195177	19195177	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:19195177C>T	ENST00000562034.1	+	3	4274	c.476C>T	c.(475-477)tCg>tTg	p.S159L	SYT17_ENST00000562711.2_Missense_Mutation_p.S216L|SYT17_ENST00000355377.2_Missense_Mutation_p.S220L|SYT17_ENST00000568115.1_Missense_Mutation_p.S159L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	220						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CACGATGGCTCGCGCCAGGAC	0.602000													61	119					0	0	0.003610	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856895	19856895	+	RNA	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:19856895A>G	ENST00000548109.1	+	0	72																											AATTAGCCCAACTTCTGTGCT	0.368000													6	44					0	0	0.010729	0	0
TYSND1	219743	broad.mit.edu	37	10	71903629	71903629	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71903629G>A	ENST00000287078.6	-	2	1265	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	422	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GCACAGGGATGGGGACATCAT	0.597000													11	26					0	0	0.001368	0	0
TENM3	55714	broad.mit.edu	37	4	183676209	183676209	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183676209C>T	ENST00000511685.1	+	22	4812	c.4689C>T	c.(4687-4689)acC>acT	p.T1563T	TENM3_ENST00000406950.2_Silent_p.T1563T|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGGCAACACCCTTAGAATTA	0.398000													16	21					0	0	0.006122	0	0
C10orf12	26148	broad.mit.edu	37	10	98742449	98742449	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:98742449C>T	ENST00000286067.2	+	1	1409	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	434										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TAAATGTCGACCCACTCTTGA	0.512000													79	137					0	0	0.003610	0	0
CDH4	1002	broad.mit.edu	37	20	60485547	60485547	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:60485547C>G	ENST00000360469.5	+	9	1346	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	CDH4_ENST00000543233.1_Missense_Mutation_p.Q346E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	420	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGACCGAGATCAGCCCCACTC	0.567000													14	36					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179613571	179613571	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179613571G>T	ENST00000360870.5	-	46	13778	c.13556C>A	c.(13555-13557)cCa>cAa	p.P4519Q	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	649	Ig-like 25.						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)			TTCAGTATTTGGAGACATTTT	0.338000													28	42					8.58068e-18	9.48294e-18	0.007291	1	0
CST9	128822	broad.mit.edu	37	20	23584341	23584341	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:23584341G>A	ENST00000376971.3	-	2	297	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	96						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CGCAGTTGCAGATTCATGGAG	0.463000													49	89					0	0	0.003610	0	0
TAF5L	27097	broad.mit.edu	37	1	229730347	229730347	+	Silent	SNP	G	G	A	rs145011648	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:229730347G>A	ENST00000258281.2	-	5	1632	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	TAF5L_ENST00000366676.1_Silent_p.D489D	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	489					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TCAACCGCTGGTCCTCGCCAG	0.572000													85	36					0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200868618	200868618	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:200868618T>A	ENST00000367342.4	+	3	528	c.328T>A	c.(328-330)Tcc>Acc	p.S110T	C1orf106_ENST00000413687.2_Missense_Mutation_p.S25T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	110										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAGCCCGGTCTCCCCAATGAA	0.627000													55	28					0	0	0.003610	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804516	21804516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:21804516G>A	ENST00000449193.2	-	4	4488	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P667S	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TTTAAGGAAGGAGTTTCTTTT	0.448000													85	132					0	0	0.003610	0	0
HDAC7	51564	broad.mit.edu	37	12	48181866	48181866	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:48181866C>T	ENST00000080059.7	-	20	2316	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	HDAC7_ENST00000380610.4_Missense_Mutation_p.D790N|HDAC7_ENST00000427332.2_Missense_Mutation_p.D734N|HDAC7_ENST00000552960.1_Missense_Mutation_p.D756N|HDAC7_ENST00000354334.3_Missense_Mutation_p.D736N	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	734	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AAGTTGCCGTCGTCATGGCGA	0.587000													23	28					0	0	0.012319	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407761	1407761	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:1407761T>A	ENST00000381524.3	+	6	639	c.453T>A	c.(451-453)ttT>ttA	p.F151L	CSF2RA_ENST00000381529.3_Missense_Mutation_p.F151L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F151L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F151L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F151L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F151L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.F151L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F151L|CSF2RA_ENST00000501036.2_Missense_Mutation_p.F18L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F151L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	151						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCAGTATTTTTTGTACATAC	0.443000													42	111					0	0	0.008740	0	0
CFHR1	3078	broad.mit.edu	37	1	196801096	196801096	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196801096G>A	ENST00000320493.5	+	6	1048	c.960G>A	c.(958-960)ggG>ggA	p.G320G	CFHR1_ENST00000367424.3_Silent_p.G261G|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	320	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTGGGATGGGAAACTGGAGT	0.348000													19	64					0	0	0.002299	0	0
HNF4A	3172	broad.mit.edu	37	20	43058177	43058177	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:43058177C>T	ENST00000316099.3	+	10	1386	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	HNF4A_ENST00000415691.1_Missense_Mutation_p.P423S|HNF4A_ENST00000457232.1_Missense_Mutation_p.P401S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	433					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTGAGACCCCACAGCCCTC	0.612000													127	250					0	0	0.003610	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733114	56733114	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56733114C>T	ENST00000587340.1	-	7	2016	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E324K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E295K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E441K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E440K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	441					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTTTACATTCGAAGGGCTTC	0.532000													21	26					0	0	0.002299	0	0
GALNT15	117248	broad.mit.edu	37	3	16252733	16252733	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:16252733C>T	ENST00000339732.5	+	5	1685	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	GALNT15_ENST00000437509.1_Silent_p.L394L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GTGAAAACCTCGAACTGTCTT	0.532000													14	26					0	0	0.001855	0	0
SLX4	84464	broad.mit.edu	37	16	3639432	3639432	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3639432C>T	ENST00000294008.3	-	12	4847	c.4207G>A	c.(4207-4209)Gag>Aag	p.E1403K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1403	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGCCACCTCCTGCTCATCG	0.617000								Direct reversal of damage					40	59					0	0	0.006999	0	0
OR2T34	127068	broad.mit.edu	37	1	248737509	248737509	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248737509A>C	ENST00000328782.2	-	1	571	c.550T>G	c.(550-552)Tgt>Ggt	p.C184G		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGTCTCACAGAAAAAACTC	0.512000													83	169					0	0	0.003610	0	0
C4orf26	152816	broad.mit.edu	37	4	76489736	76489736	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:76489736G>A	ENST00000435974.2	+	3	542	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTATCTTTCGAAACTAAAAC	0.343000													4	13					0	0	0.009096	0	0
SLC6A13	6540	broad.mit.edu	37	12	368935	368935	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:368935C>T	ENST00000436453.1	-	2	336	c.284G>A	c.(283-285)gGa>gAa	p.G95E	SLC6A13_ENST00000343164.4_Intron|SLC6A13_ENST00000445055.2_Intron	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ctatgGGACTCCCCAGAGGGG	0.507000													14	12					0	0	0.001855	0	0
TOP2A	7153	broad.mit.edu	37	17	38574030	38574030	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38574030G>A	ENST00000423485.1	-	1	172	c.14C>T	c.(13-15)cCa>cTa	p.P5L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	5					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACCTGCAATGGTGACACTTC	0.672000													4	31					0	0	0.006214	0	0
PCTP	58488	broad.mit.edu	37	17	53851150	53851150	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:53851150C>T	ENST00000576183.1	+	4	448	c.405C>T	c.(403-405)gcC>gcT	p.A135A	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Silent_p.A135A|PCTP_ENST00000268896.5_Silent_p.A135A|PCTP_ENST00000325214.6_Silent_p.A63A			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	135	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGATCCTGGCCCGGAGCACCT	0.587000													11	37					0	0	0.010729	0	0
HSF1	3297	broad.mit.edu	37	8	145537219	145537219	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145537219G>A	ENST00000528838.1	+	10	1325	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	HSF1_ENST00000400780.4_Missense_Mutation_p.D352N|HSF1_ENST00000528842.1_3'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	389	Hydrophobic repeat HR-C.|Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGACCACTTGGATGCTATGGA	0.632000													20	4					0	0	0.002299	0	0
MPST	4357	broad.mit.edu	37	22	37420687	37420687	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:37420687C>T	ENST00000397225.2	+	2	1346	c.431C>T	c.(430-432)tCc>tTc	p.S144F	MPST_ENST00000404393.1_Missense_Mutation_p.S144F|MPST_ENST00000401419.3_Missense_Mutation_p.S144F|MPST_ENST00000404802.3_Missense_Mutation_p.S144F|MPST_ENST00000341116.3_Missense_Mutation_p.S144F|MPST_ENST00000429360.2_Missense_Mutation_p.S144F|MPST_ENST00000397129.1_Missense_Mutation_p.S164F			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	144	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCGCTCAGCTCCGGCAAGAGC	0.672000													5	20					0	0	0.001168	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753396	18753396	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:18753396G>A	ENST00000380548.4	+	16	2446	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	703	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGAGATGAATGAAACAGTCAT	0.557000													5	4					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179437206	179437206	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179437206G>A	ENST00000589042.1	-	326	73877	c.73653C>T	c.(73651-73653)atC>atT	p.I24551I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.I21983I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I22910I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I15611I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I15678I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I15486I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22910	Ig-like 122.						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)			TATAGTTCTTGATTTTTGAAC	0.448000													14	29					0	0	0.001855	0	0
CYFIP1	23191	broad.mit.edu	37	15	22960808	22960808	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:22960808C>T	ENST00000313077.7	+	18	2126	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	CYFIP1_ENST00000435939.2_Silent_p.S236S|CYFIP1_ENST00000560848.1_Silent_p.S667S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	667					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGCTCTACTCCCTGGACCTGT	0.602000													10	23					0	0	0.006214	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348370	30348370	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:30348370C>T	ENST00000327564.7	+	1	347	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S	LRRC37B_ENST00000584368.1_Missense_Mutation_p.P81S|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P69S|LRRC37B_ENST00000341671.7_Missense_Mutation_p.P69S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	69						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCCAGCAGCCCCGGGGGACTT	0.602000													38	78					0	0	0.007835	0	0
EIF4G3	8672	broad.mit.edu	37	1	21329264	21329264	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:21329264G>A	ENST00000602326.1	-	0	555				EIF4G3_ENST00000374935.3_De_novo_Start_InFrame|EIF4G3_ENST00000374937.3_De_novo_Start_InFrame|EIF4G3_ENST00000374927.4_De_novo_Start_InFrame|EIF4G3_ENST00000400422.1_De_novo_Start_InFrame|EIF4G3_ENST00000264211.8_De_novo_Start_InFrame|EIF4G3_ENST00000356916.3_De_novo_Start_InFrame	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTATACCAGCGTGGTTGGACC	0.418000													46	78					0	0	0.003610	0	0
STAU2	27067	broad.mit.edu	37	8	74528007	74528007	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:74528007G>A	ENST00000355780.5	-	7	703	c.485C>T	c.(484-486)tCa>tTa	p.S162L	STAU2_ENST00000521210.1_Missense_Mutation_p.S90L|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000519961.1_Missense_Mutation_p.S194L|STAU2_ENST00000517542.1_Missense_Mutation_p.S156L|STAU2_ENST00000523558.1_Missense_Mutation_p.S22L|STAU2_ENST00000522695.1_Missense_Mutation_p.S162L|STAU2_ENST00000524300.1_Missense_Mutation_p.S194L|STAU2_ENST00000521727.1_Missense_Mutation_p.S174L|STAU2_ENST00000522509.1_Missense_Mutation_p.S162L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	194	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ATCCTTTCCTGATTCACCATT	0.333000													40	13					0	0	0.006999	0	0
FETUB	26998	broad.mit.edu	37	3	186370139	186370139	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:186370139C>T	ENST00000265029.3	+	7	969	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	FETUB_ENST00000539949.1_Missense_Mutation_p.P142S|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.P290S|FETUB_ENST00000382134.3_Missense_Mutation_p.P225S|FETUB_ENST00000382136.3_Missense_Mutation_p.P253S|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	290						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAAAAACACCCCCCCAACAGA	0.507000													32	78					0	0	0.012213	0	0
RDH16	8608	broad.mit.edu	37	12	57348713	57348713	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57348713C>T	ENST00000398138.3	-	2	1405	c.549G>A	c.(547-549)gtG>gtA	p.V183V	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	183					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAAGGCTTCCACGCCATACT	0.582000													15	25					0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92086872	92086872	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086872G>A	ENST00000298047.6	+	1	1611	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	FAT3_ENST00000525166.1_Missense_Mutation_p.E382K|FAT3_ENST00000409404.2_Missense_Mutation_p.E532K|FAT3_ENST00000541502.1_Missense_Mutation_p.E532K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	532	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCACAACTGAAGAACTGGA	0.398000										TCGA Ovarian(4;0.039)			369	144					0	0	0.003610	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264581	61264581	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61264581G>A	ENST00000344731.5	+	8	1262	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	SERPINB13_ENST00000269489.5_Missense_Mutation_p.R335K	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	387					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTTCGGCAGATTTTCTTCT	0.418000													36	44					0	0	0.008740	0	0
ZNF445	353274	broad.mit.edu	37	3	44496777	44496777	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44496777G>A	ENST00000425708.2	-	2	606	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	ZNF445_ENST00000396077.2_Missense_Mutation_p.L89F			P59923	ZN445_HUMAN	zinc finger protein 445	89	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCCTTGGAGAGAACGTCAGGC	0.592000													20	64					0	0	0.012319	0	0
CRIM1	51232	broad.mit.edu	37	2	36668611	36668611	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:36668611G>A	ENST00000280527.2	+	3	1083	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	239					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGAAGCCGGGAGAGTGCTGT	0.572000													33	59					0	0	0.006230	0	0
ASXL3	80816	broad.mit.edu	37	18	31319168	31319168	+	Silent	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:31319168A>G	ENST00000269197.5	+	11	1800	c.1800A>G	c.(1798-1800)gaA>gaG	p.E600E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCCTGAAGAACAGCTTTCAG	0.478000													6	14					0	0	0.001168	0	0
ASIC2	40	broad.mit.edu	37	17	31438945	31438945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:31438945C>T	ENST00000225823.2	-	2	1721	c.849G>A	c.(847-849)tgG>tgA	p.W283*	ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Nonsense_Mutation_p.W232*	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	232					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTCTCTCCCCAGATGGGCA	0.617000													26	80					0	0	0.006320	0	0
TRPC3	7222	broad.mit.edu	37	4	122831542	122831542	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:122831542C>T	ENST00000264811.5	-	5	1758	c.1339_splice	c.e5-1	p.G447_splice	TRPC3_ENST00000513531.1_Splice_Site_p.G392_splice|TRPC3_ENST00000379645.3_Splice_Site_p.G520_splice	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	435					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACATCATTCCTGTCACAAC	0.468000													16	34					0	0	0.006122	0	0
ACSL6	23305	broad.mit.edu	37	5	131296268	131296268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:131296268G>A	ENST00000379264.2	-	19	2012	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ACSL6_ENST00000431707.1_Missense_Mutation_p.S590F|ACSL6_ENST00000379246.1_Missense_Mutation_p.S621F|ACSL6_ENST00000543479.1_Missense_Mutation_p.S610F|ACSL6_ENST00000379272.2_Missense_Mutation_p.S625F|ACSL6_ENST00000379244.1_Missense_Mutation_p.S610F|ACSL6_ENST00000379255.1_Missense_Mutation_p.S535F|ACSL6_ENST00000357096.1_Missense_Mutation_p.S535F|ACSL6_ENST00000379240.1_Missense_Mutation_p.S610F|ACSL6_ENST00000296869.4_Missense_Mutation_p.S635F|ACSL6_ENST00000544770.1_Missense_Mutation_p.S519F|ACSL6_ENST00000379249.3_Missense_Mutation_p.S610F|AC034228.4_ENST00000446275.1_RNA	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	610					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAGGAGGGCATAAC	0.453000													18	41					0	0	0.007413	0	0
PRKG2	5593	broad.mit.edu	37	4	82073116	82073116	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:82073116G>A	ENST00000395578.1	-	8	1199	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.I361I|PRKG2_ENST00000264399.1_Silent_p.I361I			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	361					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAATTCACCTGATAAGAGCTT	0.323000													28	76					0	0	0.002836	0	0
EAF2	55840	broad.mit.edu	37	3	121554156	121554156	+	Silent	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121554156A>T	ENST00000273668.2	+	1	95	c.24A>T	c.(22-24)tcA>tcT	p.S8S	EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Silent_p.S8S	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	8					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CGGGATTCTCACACCTAGACC	0.567000													13	21					0	0	0.001855	0	0
ZNF267	10308	broad.mit.edu	37	16	31926233	31926233	+	Silent	SNP	T	T	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31926233T>G	ENST00000300870.10	+	4	872	c.663T>G	c.(661-663)tcT>tcG	p.S221S	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	221					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GCAATAATTCTGAAAAAACCT	0.289000													9	13					0	0	0.006214	0	0
DDX18	8886	broad.mit.edu	37	2	118588242	118588242	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:118588242C>T	ENST00000263239.2	+	14	2083	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	652							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGAGAAATCCAAAATCTTT	0.403000													34	57					0	0	0.003755	0	0
DBNL	28988	broad.mit.edu	37	7	44100395	44100395	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:44100395C>T	ENST00000494774.1	+	13	1197	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	DBNL_ENST00000448521.1_Silent_p.S391S|DBNL_ENST00000452943.1_Silent_p.S367S|DBNL_ENST00000440166.1_Silent_p.S288S|DBNL_ENST00000468694.1_Silent_p.S400S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Silent_p.S297S|DBNL_ENST00000456905.1_Silent_p.S343S	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	391	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CAGAGATCTCCTTTGACCCCG	0.617000													39	70					0	0	0.007835	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849654	25849654	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:25849654G>A	ENST00000397060.4	-	11	1419	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	SLC17A3_ENST00000360657.3_Missense_Mutation_p.S359L|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S359L	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	359					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGCTATGCTCGAAAATCCTCT	0.443000													9	12					0	0	0.006214	0	0
CD3D	915	broad.mit.edu	37	11	118211302	118211302	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:118211302G>A	ENST00000300692.4	-	2	198	c.62C>T	c.(61-63)cCc>cTc	p.P21L	CD3D_ENST00000392884.2_Missense_Mutation_p.P21L|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	21					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TATCTTGAAGGGGCTCACTAA	0.458000													23	16					0	0	0.002780	0	0
CACNB4	785	broad.mit.edu	37	2	152698471	152698471	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:152698471C>T	ENST00000360283.6	-	12	1406	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	CACNB4_ENST00000427385.1_Silent_p.R398R|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.R382R|CACNB4_ENST00000397327.2_Silent_p.R369R|CACNB4_ENST00000539935.1_Silent_p.R416R			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	416					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	AGCCCAAATTCCTTCCCAGCA	0.502000													36	82					0	0	0.010771	0	0
APOL1	8542	broad.mit.edu	37	22	36661318	36661318	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:36661318C>T	ENST00000319136.4	+	7	751	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	APOL1_ENST00000397278.3_Missense_Mutation_p.R146W|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_Missense_Mutation_p.R25W|APOL1_ENST00000426053.1_Missense_Mutation_p.R128W|APOL1_ENST00000397279.4_Missense_Mutation_p.R146W|APOL1_ENST00000422706.1_Missense_Mutation_p.R146W	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	146					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGAGTTTCCTCGGTTGAAAAG	0.468000													28	44					0	0	0.006320	0	0
SOX12	6666	broad.mit.edu	37	20	306916	306916	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:306916G>A	ENST00000342665.2	+	1	678	c.348G>A	c.(346-348)aaG>aaA	p.K116K	SOX12_ENST00000544632.1_Silent_p.K116K|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	116					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AAAAGAGCAAgggggcgcccg	0.741000													5	4					0	0	0.000602	0	0
AMER3	205147	broad.mit.edu	37	2	131519712	131519712	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131519712G>A	ENST00000423981.1	+	2	177	c.67G>A	c.(67-69)Gac>Aac	p.D23N	AMER3_ENST00000321420.4_Missense_Mutation_p.D23N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GAAACCCCCAGACCCAGCAGC	0.632000													5	11					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086011	92086011	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086011G>A	ENST00000298047.6	+	1	750	c.733G>A	c.(733-735)Gga>Aga	p.G245R	FAT3_ENST00000525166.1_Missense_Mutation_p.G95R|FAT3_ENST00000409404.2_Missense_Mutation_p.G245R|FAT3_ENST00000541502.1_Missense_Mutation_p.G245R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	245	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGGAACAATGGAGTGAGCAG	0.403000										TCGA Ovarian(4;0.039)			460	129					0	0	0.003610	0	0
OR4K2	390431	broad.mit.edu	37	14	20344738	20344738	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20344738C>T	ENST00000298642.2	+	1	348	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTCTTTCTCCACCTTTTCA	0.428000													26	49					0	0	0.007291	0	0
FAM126B	285172	broad.mit.edu	37	2	201853036	201853036	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:201853036G>A	ENST00000418596.2	-	11	1127	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	314						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATTGCAGTCCGAGAAATCCTC	0.423000													40	55					0	0	0.010771	0	0
C1R	715	broad.mit.edu	37	12	7188164	7188164	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:7188164C>T	ENST00000542285.1	-	11	1783	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E				P00736	C1R_HUMAN	complement component 1, r subcomponent	597	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATGACCCCGAAGCCACT	0.552000													15	24					0	0	0.002450	0	0
STAT6	6778	broad.mit.edu	37	12	57499068	57499068	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57499068G>A	ENST00000300134.3	-	9	1192	c.867C>T	c.(865-867)ttC>ttT	p.F289F	STAT6_ENST00000556155.1_Silent_p.F289F|STAT6_ENST00000543873.2_Silent_p.F289F|STAT6_ENST00000537215.2_Silent_p.F179F|STAT6_ENST00000454075.3_Silent_p.F289F|STAT6_ENST00000538913.2_Silent_p.F179F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	289					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTCCAGCCTGGAACTTGGTCT	0.632000													24	39					0	0	0.006320	0	0
CFHR3	10878	broad.mit.edu	37	1	196762504	196762504	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196762504G>A	ENST00000367425.4	+	6	946	c.854G>A	c.(853-855)aGa>aAa	p.R285K	CFHR3_ENST00000391985.3_Missense_Mutation_p.R224K	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TTAAAAGGAAGAAGTGACAGA	0.264000													19	78					0	0	0.010504	0	0
CCDC88C	440193	broad.mit.edu	37	14	91772235	91772235	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:91772235C>T	ENST00000389857.6	-	19	3317	c.3231G>A	c.(3229-3231)aaG>aaA	p.K1077K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1077					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCAGCTGTTCCTTTAGCAGCT	0.537000													12	26					0	0	0.001855	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529097	138529097	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138529097G>A	ENST00000440172.1	-	18	5465	c.5417C>T	c.(5416-5418)tCg>tTg	p.S1806L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1806L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1756L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGCCACCGACGGCATCTC	0.572000			O	BRAF	pilocytic astrocytoma								31	32					0	0	0.003755	0	0
MSH2	4436	broad.mit.edu	37	2	47710061	47710061	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:47710061C>T	ENST00000233146.2	+	16	3001	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.I860I	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	926					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATGAAATCATTTCACGAA	0.269000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	21					0	0	0.008291	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316433	30316433	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:30316433G>A	ENST00000375377.1	-	3	2745	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	882										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGTTTCCGCGGAAGCCCACA	0.617000													32	47					0	0	0.012213	0	0
TBX19	9095	broad.mit.edu	37	1	168269660	168269660	+	Splice_Site	SNP	A	A	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:168269660A>T	ENST00000367821.3	+	5	717	c.665_splice	c.e5-1	p.R222_splice		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	222					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ACTCTTTCAGAAATCACCTAA	0.448000													16	44					0	0	0.007413	0	0
POTEE	445582	broad.mit.edu	37	2	131976120	131976120	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131976120C>T	ENST00000356920.5	+	1	239	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.H49Y|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	49							ATP binding										TTCTGGAGACCACGACGACTC	0.602000													89	158					0	0	0.003610	0	0
SLC26A1	10861	broad.mit.edu	37	4	973225	973225	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:973225T>A	ENST00000398520.2	-	3	746	c.644A>T	c.(643-645)gAa>gTa	p.E215V		NM_134425.1	NP_602297.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	0						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ttccagaagttcctgcgagtc	0.537000													10	14					0	0	0.008291	0	0
SIPA1	6494	broad.mit.edu	37	11	65414473	65414473	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:65414473G>A	ENST00000394224.3	+	8	2264	c.1968G>A	c.(1966-1968)gcG>gcA	p.A656A	SIPA1_ENST00000394227.3_Silent_p.A554A|SIPA1_ENST00000527525.1_Silent_p.A554A|SIPA1_ENST00000534313.1_Silent_p.A656A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	656					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCGGGGAGGCGATCACGCTGC	0.716000													3	1					0	0	0.009096	0	0
TDRD6	221400	broad.mit.edu	37	6	46660228	46660228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:46660228C>T	ENST00000544460.1	+	1	4617	c.4363C>T	c.(4363-4365)Caa>Taa	p.Q1455*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.Q1455*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1455				Q -> R (in Ref. 3; CAI45997).	cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAAATTTCAAGACAGATG	0.373000													25	113					0	0	0.006320	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79744198	79744198	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:79744198G>A	ENST00000338008.5	+	7	3258	c.3078G>A	c.(3076-3078)ctG>ctA	p.L1026L	ZFYVE16_ENST00000505560.1_Silent_p.L1026L|ZFYVE16_ENST00000510158.1_Silent_p.L1026L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1026					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCCCACTTCTGGTTGCATCTG	0.323000													16	17					0	0	0.002780	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:28378660C>T	ENST00000337532.5	-	13	1339	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_ENST00000375719.3_Missense_Mutation_p.E355K|MPP7_ENST00000375732.1_Missense_Mutation_p.E355K|MPP7_ENST00000445954.2_Missense_Mutation_p.E230K|MPP7_ENST00000540098.1_Missense_Mutation_p.E355K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000													53	85					0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712868	70712868	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:70712868G>A	ENST00000530196.1	-	0	1650					NR_003951.1																						CACCTCTTTTGATAGCAGTAG	0.433000													17	20					0	0	0.010504	0	0
ANK2	287	broad.mit.edu	37	4	114277530	114277530	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:114277530G>A	ENST00000357077.4	+	38	7809	c.7756G>A	c.(7756-7758)Gag>Aag	p.E2586K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2553K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2553					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACACCTGAAGAGGAGATGTT	0.383000													26	47					0	0	0.007291	0	0
OTOP2	92736	broad.mit.edu	37	17	72920757	72920757	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72920757G>A	ENST00000331427.4	+	2	122	c.30G>A	c.(28-30)aaG>aaA	p.K10K	OTOP2_ENST00000580223.1_Silent_p.K10K	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	10						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGGCCCCAAGGAGAGCCCCC	0.687000													13	12					0	0	0.001855	0	0
MUC17	140453	broad.mit.edu	37	7	100678076	100678076	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100678076G>A	ENST00000306151.4	+	3	3443	c.3379G>A	c.(3379-3381)Gac>Aac	p.D1127N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1127	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTCGACACCAGCAT	0.517000													356	422					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26423113	26423113	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26423113G>A	ENST00000335473.7	+	43	7423	c.7173G>A	c.(7171-7173)gtG>gtA	p.V2391V	MYO18B_ENST00000407587.2_Silent_p.V2392V|MYO18B_ENST00000536101.1_Silent_p.V2391V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2391						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCCTCTGTGGACGATGCGG	0.597000													35	57					0	0	0.003271	0	0
GYPA	2993	broad.mit.edu	37	4	145038032	145038032	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:145038032G>A	ENST00000360771.4	-	5	447	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.S46F|GYPA_ENST00000535709.1_Missense_Mutation_p.S85F|GYPA_ENST00000503627.1_Missense_Mutation_p.S66F|GYPA_ENST00000324022.10_Missense_Mutation_p.S78F|GYPA_ENST00000512064.1_Missense_Mutation_p.S98F|GYPA_ENST00000504786.1_Missense_Mutation_p.S79F	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	111					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AATACCGTAAGAAATTAAGAG	0.373000													57	94					0	0	0.003610	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045108	55045108	+	Silent	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55045108C>A	ENST00000335056.3	+	3	266	c.228C>A	c.(226-228)tcC>tcA	p.S76S																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CTGGCCTTTCCAACAACATCA	0.502000													18	22					5.3912e-06	5.88235e-06	0.006122	1	0
ADAM10	102	broad.mit.edu	37	15	59009855	59009855	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:59009855G>A	ENST00000260408.3	-	2	570	c.127C>T	c.(127-129)Cac>Tac	p.H43Y	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	43					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGTTTTTGGTGTAATGAATCC	0.333000													9	16					0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155253659	155253659	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:155253659C>A	ENST00000357232.3	-	9	2203	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	DCHS2_ENST00000339452.1_Missense_Mutation_p.G1234V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	735	Cadherin 6.				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)		GAAGAATTTTCCATCAGACAA	0.383000													23	38					1.10923e-09	1.21716e-09	0.002780	1	0
RAB19	401409	broad.mit.edu	37	7	140125765	140125765	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:140125765G>A	ENST00000275874.5	+	5	808	c.610G>A	c.(610-612)Gtt>Att	p.V204I	RAB19_ENST00000537763.1_Missense_Mutation_p.V157I|RAB19_ENST00000356407.3_Missense_Mutation_p.V157I			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CCTCCTGGCCGTTTTGGAGAC	0.522000													95	121					0	0	0.003610	0	0
MAK	4117	broad.mit.edu	37	6	10830855	10830855	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:10830855C>G	ENST00000313243.2	-	2	409	c.27G>C	c.(25-27)caG>caC	p.Q9H	MAK_ENST00000536370.1_Missense_Mutation_p.Q9H|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.Q9H|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Q9H|MAK_ENST00000474039.1_Missense_Mutation_p.Q9H			P20794	MAK_HUMAN	male germ cell-associated kinase	9	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CGTCCCCCAACTGTCTCATGG	0.443000													62	65					0	0	0.003610	0	0
DHX57	90957	broad.mit.edu	37	2	39090588	39090588	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:39090588T>C	ENST00000295373.6	-	3	424	c.298A>G	c.(298-300)Act>Gct	p.T100A	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	100							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATATGTAGAGTCTGAAGGGGT	0.403000													25	40					0	0	0.005443	0	0
CSNK1D	1453	broad.mit.edu	37	17	80209309	80209309	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:80209309G>A	ENST00000314028.6	-	6	1180	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.F277F|CSNK1D_ENST00000392334.2_Silent_p.F277F	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	277	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCTGGCGATGGAACAGATTCC	0.522000													15	28					0	0	0.004990	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686323	4686323	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:4686323G>A	ENST00000270560.3	+	4	601	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	190						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGATTGCAGGAAAAAACAGG	0.562000													17	62					0	0	0.002780	0	0
FBN2	2201	broad.mit.edu	37	5	127599332	127599332	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:127599332G>A	ENST00000508053.1	-	69	8951	c.7977C>T	c.(7975-7977)tcC>tcT	p.S2659S	FBN2_ENST00000262464.4_Silent_p.S2659S			P35556	FBN2_HUMAN	fibrillin 2	2659	EGF-like 46; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTGGGATTGGAGCATTCAT	0.522000													18	21					0	0	0.007413	0	0
PCNT	5116	broad.mit.edu	37	21	47805772	47805772	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:47805772G>A	ENST00000359568.5	+	17	3445	c.3338G>A	c.(3337-3339)aGt>aAt	p.S1113N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1113					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTATCCTTAAGTCACGAGATA	0.488000													59	81					0	0	0.003610	0	0
GJA8	2703	broad.mit.edu	37	1	147381370	147381370	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:147381370G>A	ENST00000240986.4	+	2	1341	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	GJA8_ENST00000369235.1_Missense_Mutation_p.D430N	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	430					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAGGTCAGACGATCTAACCGT	0.493000													25	49					0	0	0.004656	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430749	37430749	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:37430749C>T	ENST00000374660.1	+	7	855	c.756C>T	c.(754-756)ccC>ccT	p.P252P	ANKRD30A_ENST00000602533.1_Silent_p.P252P|ANKRD30A_ENST00000361713.1_Silent_p.P252P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGCTGCACCCTTGGTGGAAA	0.498000													19	32					0	0	0.008871	0	0
ATP8B3	148229	broad.mit.edu	37	19	1784935	1784935	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1784935G>A	ENST00000539485.1	-	28	3806	c.3573C>T	c.(3571-3573)ctC>ctT	p.L1191L	ATP8B3_ENST00000525591.1_Silent_p.L1144L|ATP8B3_ENST00000310127.6_Silent_p.L1181L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1181					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCACGCTGAGGTCGGCAT	0.632000													11	14					0	0	0.001368	0	0
LCE2A	353139	broad.mit.edu	37	1	152671415	152671415	+	Missense_Mutation	SNP	C	C	T	rs112496497		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152671415C>T	ENST00000368779.1	+	2	89	c.38C>T	c.(37-39)cCt>cTt	p.P13L		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	13	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCAGCCCCCTCCCAAGTGC	0.552000													92	69					0	0	0.003610	0	0
ATIC	471	broad.mit.edu	37	2	216197195	216197195	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:216197195C>T	ENST00000435675.1	+	7	1167	c.776C>T	c.(775-777)cCa>cTa	p.P259L	ATIC_ENST00000540518.1_Missense_Mutation_p.P201L|ATIC_ENST00000236959.9_Missense_Mutation_p.P260L			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	260					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TTAGGTATTCCAGCCGCTGCC	0.443000			T	ALK	ALCL								17	30					0	0	0.006122	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264094	140264094	+	Silent	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140264094T>C	ENST00000289272.2	+	1	2241	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S747S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAGGGAGTTGGTCGTACT	0.682000													19	41					0	0	0.008871	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662863	662863	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:662863G>A	ENST00000266383.5	+	14	1787	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	592						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGGGAGGAGGAAGTGGTGGC	0.617000													16	23					0	0	0.004990	0	0
CCSER1	401145	broad.mit.edu	37	4	91549260	91549260	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:91549260G>A	ENST00000509176.1	+	6	2097	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	CCSER1_ENST00000432775.2_Silent_p.A603A|CCSER1_ENST00000333691.8_Silent_p.A603A	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTCCATCTGCGGATTGGCCTC	0.443000													29	36					0	0	0.008361	0	0
ZNF208	7757	broad.mit.edu	37	19	22154198	22154198	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22154198C>T	ENST00000397126.4	-	4	3786	c.3638G>A	c.(3637-3639)aGa>aAa	p.R1213K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTGTGATATCTAAGGGTTGA	0.373000													14	36					0	0	0.002450	0	0
DCAF16	54876	broad.mit.edu	37	4	17805290	17805290	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:17805290C>T	ENST00000382247.1	-	3	1535	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	DCAF16_ENST00000536863.1_Missense_Mutation_p.A159T	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	159						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ATGGGAGTGGCTCTACTCAAT	0.463000													47	73					0	0	0.003610	0	0
OR4F15	390649	broad.mit.edu	37	15	102359075	102359075	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:102359075C>T	ENST00000332238.4	+	1	710	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGGAAACATTCTTCTGGTGGT	0.458000													48	72					0	0	0.003610	0	0
XPC	7508	broad.mit.edu	37	3	14199529	14199529	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:14199529C>T	ENST00000285021.7	-	9	2068	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	XPC_ENST00000449060.2_Silent_p.E581E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	618	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTTTCTTCTCCCTGTCCA	0.512000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	149					0	0	0.010504	0	0
OPN4	94233	broad.mit.edu	37	10	88414668	88414668	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:88414668C>T	ENST00000372071.2	+	1	355	c.128C>T	c.(127-129)cCa>cTa	p.P43L	OPN4_ENST00000241891.5_Missense_Mutation_p.P43L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	43					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCCGGCTTCCATCCATCAGT	0.657000													21	22					0	0	0.012319	0	0
SPICE1	152185	broad.mit.edu	37	3	113212092	113212092	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:113212092G>C	ENST00000295872.4	-	6	712	c.453C>G	c.(451-453)atC>atG	p.I151M		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	151					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAGATTGGGTGATAGGGTCTT	0.403000													7	22					0	0	0.004482	0	0
TRHDE	29953	broad.mit.edu	37	12	73046126	73046126	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:73046126C>T	ENST00000261180.4	+	16	2661	c.2565C>T	c.(2563-2565)atC>atT	p.I855I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	855					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTAGAGACATCGTATACTGTA	0.353000													20	40					0	0	0.008871	0	0
PDGFD	80310	broad.mit.edu	37	11	103797677	103797677	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:103797677G>A	ENST00000302251.5	-	6	1383	c.932C>T	c.(931-933)aCa>aTa	p.T311I	PDGFD_ENST00000393158.2_Missense_Mutation_p.T317I	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	317					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TGAATTGCATGTGCAGGACCT	0.468000													31	6					0	0	0.012213	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385910	21385910	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:21385910C>T	ENST00000382932.2	-	2	259	c.192G>A	c.(190-192)aaG>aaA	p.K64K	SLC7A4_ENST00000403586.1_Silent_p.K64K|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	64					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCCACCTCCTTGGCCACGG	0.657000													5	24					0	0	0.001984	0	0
CDH10	1008	broad.mit.edu	37	5	24537507	24537507	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:24537507G>A	ENST00000264463.4	-	3	1015	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	170	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GACATTTCGGGAACACTAGCT	0.338000										HNSCC(23;0.051)			45	71					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82582812	82582812	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82582812A>G	ENST00000423517.2	-	5	7794	c.7457T>C	c.(7456-7458)gTt>gCt	p.V2486A	PCLO_ENST00000333891.8_Missense_Mutation_p.V2486A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2417					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTAGGAGGAACAGGAGGAGG	0.463000													45	69					0	0	0.011902	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68188300	68188300	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:68188300G>A	ENST00000262215.3	-	9	1637	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	416					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTAAAATGTGGGAAAACTTAG	0.368000													15	7					0	0	0.004007	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476769	52476769	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:52476769G>A	ENST00000231721.2	-	2	269	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	90	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCACCTCCCGGGGATCTGGCC	0.617000													15	22					0	0	0.006122	0	0
FAM193A	8603	broad.mit.edu	37	4	2692478	2692478	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:2692478C>T	ENST00000324666.5	+	13	2062	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	FAM193A_ENST00000545951.1_Missense_Mutation_p.P571S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P571S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P593S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P571S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	571										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCCTTCCACCTCCATCTAG	0.398000													14	34					0	0	0.002450	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184679	130184679	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:130184679G>A	ENST00000422113.2	-	2	970	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	215						integral to membrane		p.S215F(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGTCCACGGACTTCCTCCT	0.687000													42	26					0	0	0.007835	0	0
FLG2	388698	broad.mit.edu	37	1	152328911	152328911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152328911G>A	ENST00000388718.5	-	3	1423	c.1351C>T	c.(1351-1353)Caa>Taa	p.Q451*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	451	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAAGTTTGACCTGAGCCA	0.478000													41	199					0	0	0.006999	0	0
KDR	3791	broad.mit.edu	37	4	55953871	55953871	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:55953871C>T	ENST00000263923.4	-	27	3860	c.3565G>A	c.(3565-3567)Gat>Aat	p.D1189N	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1189					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTCCAGAATCCTCTTCCATG	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			19	25					0	0	0.010504	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507374	74507374	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:74507374C>T	ENST00000354431.4	-	7	1432	c.1241G>A	c.(1240-1242)gGt>gAt	p.G414D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.G414D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	414										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAGTTTCATACCAGCTCTTTG	0.363000													34	54					0	0	0.003271	0	0
POLR2B	5431	broad.mit.edu	37	4	57891066	57891066	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:57891066G>C	ENST00000381227.1	+	23	3392	c.2979G>C	c.(2977-2979)aaG>aaC	p.K993N	POLR2B_ENST00000441246.2_Missense_Mutation_p.K986N|POLR2B_ENST00000314595.5_Missense_Mutation_p.K993N|POLR2B_ENST00000431623.2_Missense_Mutation_p.K918N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	993					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGGCTAACAAGGGTGAAATTG	0.338000													24	39					0	0	0.003330	0	0
PTRF	284119	broad.mit.edu	37	17	40556804	40556804	+	Silent	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40556804G>A	ENST00000357037.5	-	2	1493	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	358					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGGTCGCCGGCCTCCCCGC	0.711000													7	16					0	0	0.004482	0	0
NLRP4	147945	broad.mit.edu	37	19	56379170	56379170	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56379170A>G	ENST00000301295.6	+	6	2704	c.2282A>G	c.(2281-2283)aAc>aGc	p.N761S	NLRP4_ENST00000587891.1_Missense_Mutation_p.N686S|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	761							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTATCCTGCAACCAGTTAGAC	0.512000													31	38					0	0	0.009535	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249242	90249242	+	RNA	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:90249242T>C	ENST00000468879.1	+	0	379																											CAAAAGCCCCTAAGCTCTTCA	0.502000													76	97					0	0	0.003610	0	0
TRPC6	7225	broad.mit.edu	37	11	101340233	101340233	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:101340233C>T	ENST00000344327.3	-	10	2834		c.e10-1		TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Splice_Site	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		cttcatttatcttttaaagat	0.274000													15	2					0	0	0.002450	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610537	106610537	+	RNA	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106610537C>T	ENST00000390603.2	-	0	212																											AAAGTGAATCCAGAGGCTGCA	0.582000													50	75					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179616458	179616458	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179616458C>T	ENST00000360870.5	-	46	10891	c.10669G>A	c.(10669-10671)Gat>Aat	p.D3557N	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3556	Ig-like 21.						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)			TGGTGTAAATCACTCTCAGCT	0.408000													36	42					0	0	0.004878	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818729	159818729	+	RNA	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:159818729G>A	ENST00000497452.1	-	0	517																											AAAGTAGGAGGGAACGAAGTC	0.517000													29	52					0	0	0.006320	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603629	28603629	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:28603629G>A	ENST00000533150.1	-	3	1747	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SULT1A2_ENST00000335715.4_Missense_Mutation_p.R244C|SULT1A2_ENST00000395630.1_Missense_Mutation_p.R244C			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AACTCCCGGCGGACGGTGGTG	0.602000													47	100					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158639531	158639531	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:158639531C>T	ENST00000368148.3	-	13	1825	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D549N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	549					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTCTGAATCATAATGGTCA	0.413000													225	132					0	0	0.003610	0	0
DAO	1610	broad.mit.edu	37	12	109294246	109294246	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:109294246G>A	ENST00000228476.3	+	11	1183	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	DAO_ENST00000551281.1_Missense_Mutation_p.A261T	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	327					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCTGGAGGCAGCCAAGCTCTT	0.567000													32	51					0	0	0.012213	0	0
TNN	63923	broad.mit.edu	37	1	175097859	175097859	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:175097859G>A	ENST00000239462.4	+	15	3420	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1103	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTGACATGGAAACGGACGG	0.597000													12	81					0	0	0.001368	0	0
C12orf56	115749	broad.mit.edu	37	12	64664335	64664335	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:64664335T>C	ENST00000543942.2	-	12	2370	c.1744A>G	c.(1744-1746)Aac>Gac	p.N582D	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.N422D	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	585										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCTCTGTAGTTATTCCTAATA	0.418000													5	6					0	0	0.001168	0	0
C1orf87	127795	broad.mit.edu	37	1	60491080	60491080	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:60491080C>T	ENST00000371201.3	-	8	1227	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	C1orf87_ENST00000450089.2_Missense_Mutation_p.E145K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	374							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACTTTATTTCATTTTGGTAA	0.378000													20	50					0	0	0.008871	0	0
TIMM21	29090	broad.mit.edu	37	18	71816127	71816127	+	Silent	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:71816127C>T	ENST00000580087.1	+	1	370	c.84C>T	c.(82-84)atC>atT	p.I28I	TIMM21_ENST00000169551.6_Silent_p.I28I			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	28					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TGCCATACATCGTGCTTAACA	0.458000													74	133					0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52844254	52844254	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52844254C>T	ENST00000252252.3	-	2	738	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	231	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGACCCCGTTCCCCCACGATG	0.567000													54	136					0	0	0.003610	0	0
MAST2	23139	broad.mit.edu	37	1	46488950	46488950	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:46488950G>A	ENST00000361297.2	+	14	1814	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	MAST2_ENST00000372008.1_Missense_Mutation_p.D396N|MAST2_ENST00000372009.2_Missense_Mutation_p.D441N	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	511					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCTGAAGAGGACTTCGAGAC	0.547000													64	91					0	0	0.003610	0	0
HGFAC	3083	broad.mit.edu	37	4	3451138	3451138	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:3451138C>T	ENST00000382774.3	+	14	2075	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	HGFAC_ENST00000511533.1_Missense_Mutation_p.P661S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	654					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTTGTGGCTCCCTCCTGACC	0.647000													10	17					0	0	0.006214	0	0
TTC21B	79809	broad.mit.edu	37	2	166786257	166786257	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166786257C>T	ENST00000243344.7	-	10	1225	c.1087_splice	c.e10-1	p.G363_splice		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	363						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTGGATAAATCCTAAAATCAA	0.383000													17	26					0	0	0.004990	0	0
ZNF148	7707	broad.mit.edu	37	3	124997999	124998000	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:124997999_124998000delAT	ENST00000360647.4	-	6	1036_1037	c.551_552delAT	c.(550-552)tfs	p.Y184fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.Y184fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.Y184fs|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Frame_Shift_Del_p.I8fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.Y184fs|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	184					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTGTAAGTGATAGTTCGTTCT	0.356													45	99	---	---	---	---					
C10orf54	64115	broad.mit.edu	37	10	73521670	73521672	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73521670_73521672delCAT	ENST00000394957.3	-	2	252_254	c.194_196delATG	c.(193-198)gtg>g	p.DV65del	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	65	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGAAGGTCACATCGTGCCCTTT	0.626													30	29	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													6	4	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119148871	119148874	+	Splice_Site	DEL	CAAA	CAAA	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:119148871_119148874delCAAA	ENST00000264033.4	+	8	1471		c.e8-1			NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase						epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTTTTTAATCAAAGGAACAATAT	0.289			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				19	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46246254	46246254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:46246254delG	ENST00000334344.6	+	15	4520	c.4348delG	c.(4348-4350)gafs	p.G1450fs	ARID2_ENST00000457135.1_Frame_Shift_Del_p.G58fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.G1060fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.G1301fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1450					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTGCTTAATGGACCTCTAGC	0.428			"""N, S, F"""		hepatocellular carcinoma								37	68	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52908747	52908749	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52908747_52908749delGGA	ENST00000252242.4	-	9	2140_2142	c.1750_1752delTCC	c.(1750-1752)del	p.S584del		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	584	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTCTTCCGGGAGGAGGAGGTG	0.591													25	65	---	---	---	---					
EVPL	2125	broad.mit.edu	37	17	74004880	74004895	+	Frame_Shift_Del	DEL	TCCAGCTTGACCACTT	TCCAGCTTGACCACTT	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74004880_74004895delTCCAGCTTGACCACTT	ENST00000301607.3	-	22	4644_4659	c.4391_4406delAAGTGGTCAAGCTGGA	c.(4390-4407)ggfs	p.EVVKLE1464fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.EVVKLE1486fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1464	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						CGGGTCCTTCTCCAGCTTGACCACTTCCTCCATGAT	0.611													28	163	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152858094	152858094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:152858094delT	ENST00000406277.2	-	6	623	c.521delA	c.(520-522)gcfs	p.D174fs	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	176					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTAGCTGTCCCGCAGCAG	0.677													17	7	---	---	---	---