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
MAGEA10	4109	broad.mit.edu	37	X	151303696	151303696	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303696C>G	ENST00000370323.4	-	4	713	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E133Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	133										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTATCTCACTTCTGGGT	0.468000													77	39					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744550	135744550	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:135744550G>C	ENST00000375845.3	-	7	1922	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S648C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S518C|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CGGTTGAACAGAGAGAGGAAC	0.383000													15	194					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122525786	122525786	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122525786C>G	ENST00000261038.5	+	2	824	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	142					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CAGACTTAATCCTTAAAAGAA	0.328000													6	81					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73661146	73661146	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:73661146G>C	ENST00000420326.2	-	3	396	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RECQL5_ENST00000340830.5_Silent_p.L79L|RECQL5_ENST00000423245.2_Silent_p.L52L|RECQL5_ENST00000584999.1_Silent_p.L79L|RECQL5_ENST00000317905.5_Silent_p.L79L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	79	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCAAAGCAATGAGAGGAGAGA	0.483000								Other identified genes with known or suspected DNA repair function					246	63					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162014	1162014	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1162014C>T	ENST00000356191.2	+	19	1596	c.1596C>T	c.(1594-1596)atC>atT	p.I532I						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCTTCTTCATCATCGCCCAGA	0.647000													7	113					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49104913	49104913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104913C>T	ENST00000376227.3	+	11	1428	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	420										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CTTGGCGGGTCAGTGGGAGAA	0.647000													33	6					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20103616	20103616	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20103616C>T	ENST00000252136.7	-	2	932	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TRMT2A_ENST00000439169.2_Missense_Mutation_p.E182K|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E182K|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E182K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	182					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TCAAGCTGCTCAGCATAGGGC	0.637000													64	76					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48807989	48807989	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48807989C>G	ENST00000309835.3	+	1	227	c.217C>G	c.(217-219)Cca>Gca	p.P73A	STON1_ENST00000406226.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P73A|STON1_ENST00000404752.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P73A					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATTTCAGTCCAGGACCTCC	0.498000													11	137					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109692023	109692023	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:109692023G>C	ENST00000277225.5	+	3	6119	c.5830G>C	c.(5830-5832)Gat>Cat	p.D1944H	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.D789H|ZNF462_ENST00000457913.1_Missense_Mutation_p.D1944H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1944					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCTTTTGCAGATTTCAAACA	0.473000													8	93					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73372107	73372107	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73372107G>T	ENST00000326291.6	+	5	953	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	205						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGTGAAAAAGAATATCCTAG	0.353000													57	87					7.71302e-15	7.99247e-15	1	1	0
ANKRD1	27063	broad.mit.edu	37	10	92675632	92675632	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:92675632G>C	ENST00000371697.3	-	7	905	c.657C>G	c.(655-657)ctC>ctG	p.L219L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	219					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCGCTGTGCTGAGCAACTGGA	0.557000													11	20					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	55					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39137332	39137332	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:39137332G>C	ENST00000377755.4	-	4	793	c.759C>G	c.(757-759)gaC>gaG	p.D253E	KRT40_ENST00000398486.2_Missense_Mutation_p.D253E			Q6A162	K1C40_HUMAN	keratin 40	253	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTGTTGAGGTCAAGGGTGG	0.537000													63	95					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145758701	145758701	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:145758701C>T	ENST00000276826.5	-	7	2805	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	ARHGAP39_ENST00000540274.1_Silent_p.K868K|ARHGAP39_ENST00000377307.2_Silent_p.K899K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	868	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTTGGGCTTCTTCAGCCCCT	0.632000													25	37					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101679386	101679386	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:101679386G>C	ENST00000261637.4	+	3	339	c.165G>C	c.(163-165)tgG>tgC	p.W55C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	55					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAATGGAGAGAATTAA	0.343000													26	49					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			53	28					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9763909	9763909	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9763909G>C	ENST00000448622.1	-	6	1159	c.997C>G	c.(997-999)Caa>Gaa	p.Q333E	ZNF562_ENST00000541032.1_Missense_Mutation_p.Q296E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q333E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q332E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q261E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q264E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q217E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTACATGTTGAGTAAGGTGA	0.403000													37	74					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89873462	89873462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:89873462C>T	ENST00000268124.5	-	3	1038	c.705G>A	c.(703-705)tgG>tgA	p.W235*	POLG_ENST00000442287.2_Nonsense_Mutation_p.W235*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	235					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGGCTGGTCCAAGAGTAAC	0.617000								DNA polymerases (catalytic subunits)					20	51					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967404	106967404	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:106967404C>G	ENST00000390622.2	-	0	350																											TGGAAAAAATCCCTTCCTCAG	0.547000													54	74					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020328	147020328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:147020328G>T	ENST00000265272.5	-	9	1807	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*	JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.S405*|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.S447*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	447						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGATGATGTCTCTGA	0.428000													27	28					4.72057e-08	4.82173e-08	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17191186	17191186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17191186C>A	ENST00000265970.7	-	1	102	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	35	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCCTCTGCTTCCATCTGTAAT	0.423000													65	102					1.1362e-29	1.19688e-29	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64415248	64415248	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415248C>T	ENST00000395251.1	+	4	582	c.248C>T	c.(247-249)tCa>tTa	p.S83L	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	83										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCAGGTAATTCATCAGATCTG	0.527000													31	60					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659508	206659508	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:206659508C>T	ENST00000360409.3	+	17	3313	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F	NRP2_ENST00000540178.1_Missense_Mutation_p.S836F|NRP2_ENST00000540841.1_Missense_Mutation_p.S819F|NRP2_ENST00000357785.5_Missense_Mutation_p.S836F|NRP2_ENST00000412873.2_Missense_Mutation_p.S819F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	841					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGCAATTCTTCTTCTGCAACC	0.527000													51	77					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767753	127767753	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:127767753C>T	ENST00000483725.3	-	5	2047	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	571							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTGCTGTCTCATAGGTTTTC	0.463000													31	39					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612250	196612250	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:196612250C>G	ENST00000323460.5	+	2	447	c.198C>G	c.(196-198)atC>atG	p.I66M	SENP5_ENST00000445299.2_Missense_Mutation_p.I66M|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	66					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTCTTCAAATCCAGAAAACGT	0.413000													39	118					0	0	1	0	0
HSPE1	3336	broad.mit.edu	37	2	198367797	198367797	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:198367797G>C	ENST00000233893.5	+	3	646	c.203G>C	c.(202-204)gGa>gCa	p.G68A	HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.G13A|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.G68A	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			GTGAAAGTTGGAGATAAAGTT	0.343000													10	113					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:98097935C>T	ENST00000419175.1	+	11	1651	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333000													4	94					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337794	220337794	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:220337794G>A	ENST00000312358.7	+	16	4255	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1375	Fibronectin type-III 1.				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)		ACCCCCTTCTGAGCCTGTGCA	0.672000													34	33					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	179					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79741145	79741145	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:79741145T>C	ENST00000338008.5	+	6	2825	c.2645T>C	c.(2644-2646)gTt>gCt	p.V882A	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V882A|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V882A	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	882					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)		AATGGTGAAGTTGCAGATACA	0.358000													36	9					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47095252	47095252	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:47095252C>T	ENST00000216264.8	-	8	1013	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CERK_ENST00000541677.1_Missense_Mutation_p.E103K	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	301					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTTCTTCTCACTGTCCTTG	0.562000													133	119					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47069517	47069517	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47069517G>C	ENST00000335972.6	+	18	2377	c.2194G>C	c.(2194-2196)Gac>Cac	p.D732H	UBA1_ENST00000377351.4_Missense_Mutation_p.D732H|UBA1_ENST00000377269.3_Missense_Mutation_p.D180H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	732					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTCCCTCCTGACCAGGTAAT	0.597000													30	16					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100029249	100029249	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:100029249C>T	ENST00000258428.3	-	13	2344	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	REV1_ENST00000393445.3_Missense_Mutation_p.E705K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	706					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTCCTTTTCAGTTCGAACT	0.388000								Direct reversal of damage					35	37					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097674	167097674	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:167097674G>C	ENST00000361200.2	+	6	3472	c.3306G>C	c.(3304-3306)gaG>gaC	p.E1102D	DUSP27_ENST00000443333.1_Missense_Mutation_p.E1102D|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1102D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1102					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						GAGAGAAAGAGAGGACAGAAA	0.488000													12	48					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCCATCTGACAGGTCTCTG	0.532000													5	176					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745701	77745701	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745701G>C	ENST00000409088.3	-	3	1708	c.1294C>G	c.(1294-1296)Ctc>Gtc	p.L432V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L433V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L433V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	432						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGAGAAAGAGAGCCACACTC	0.478000													9	87					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100328171	100328171	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:100328171G>A	ENST00000395211.2	+	7	796	c.660G>A	c.(658-660)ctG>ctA	p.L220L	TMOD1_ENST00000375175.1_Silent_p.L93L|TMOD1_ENST00000259365.3_Silent_p.L220L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	220					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CAGAAGCCCTGAAAGAAAACT	0.507000													15	185					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30926252	30926252	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:30926252C>T	ENST00000383096.3	-	9	763	c.581G>A	c.(580-582)aGa>aAa	p.R194K	CCDC178_ENST00000300227.8_Missense_Mutation_p.R194K|CCDC178_ENST00000579947.1_Missense_Mutation_p.R194K|CCDC178_ENST00000402325.1_Missense_Mutation_p.R194K|CCDC178_ENST00000403303.1_Missense_Mutation_p.R194K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.R194K|CCDC178_ENST00000406524.2_Missense_Mutation_p.R194K					coiled-coil domain containing 178																		CATATTCTTTCTTGATCTCTG	0.383000													15	58					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20257901	20257901	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:20257901C>T	ENST00000245957.5	+	22	2671	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	C20orf26_ENST00000377309.2_Silent_p.L221L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	865										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCATCCACCTCGTGCAGCCCC	0.582000													34	44					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114512633	114512633	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:114512633C>G	ENST00000369558.1	+	14	3059	c.2827C>G	c.(2827-2829)Cca>Gca	p.P943A	HIPK1_ENST00000369554.2_Missense_Mutation_p.P898A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P898A|HIPK1_ENST00000340480.4_Missense_Mutation_p.P569A|HIPK1_ENST00000426820.2_Missense_Mutation_p.P943A|HIPK1_ENST00000369559.4_Missense_Mutation_p.P943A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P549A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P909A|HIPK1_ENST00000369553.1_Missense_Mutation_p.P549A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	943	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CAATGATTCTCCAGACTCTGA	0.438000													58	123					0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414537	85414537	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:85414537C>G	ENST00000295886.4	-	3	1230	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	NKX6-1_ENST00000515820.2_Missense_Mutation_p.E63Q	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	337	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GTGATTTTCTCGTCGTCCGAG	0.617000													58	80					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899623	128899623	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:128899623G>A	ENST00000435159.2	+	2	432	c.432G>A	c.(430-432)cgG>cgA	p.R144R		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	144						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACCTGAGCCGGCCCAAAGTGC	0.493000													3	24					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262837	248262837	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:248262837C>G	ENST00000366478.2	+	3	497	c.160C>G	c.(160-162)Ctc>Gtc	p.L54V	OR2L13_ENST00000358120.2_Missense_Mutation_p.L54V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGATCCTCGTCTCCACACACC	0.507000													8	156					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79292205	79292205	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:79292205C>T	ENST00000419573.3	-	18	2948	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E108K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E876K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	894					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGTCCAGTTCACGACAGGAG	0.577000													52	110					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733592	84733592	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:84733592G>C	ENST00000372142.2	+	8	944	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	NRG3_ENST00000537893.1_Missense_Mutation_p.E95Q|NRG3_ENST00000545131.1_Missense_Mutation_p.E95Q|NRG3_ENST00000404547.1_Missense_Mutation_p.E445Q|NRG3_ENST00000556918.1_Missense_Mutation_p.E275Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E249Q|NRG3_ENST00000372141.2_Missense_Mutation_p.E445Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	445	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAATGATGGAGTCAAGTTT	0.488000													26	31					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155561820	155561820	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:155561820G>A	ENST00000461783.3	+	18	4598	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N	TIAM2_ENST00000367174.2_Missense_Mutation_p.D485N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109N|TIAM2_ENST00000528391.2_Missense_Mutation_p.D445N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421N|TIAM2_ENST00000275246.7_Missense_Mutation_p.D34N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1109	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGCTTGTGGACACAGAGAA	0.562000													43	44					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137439	40137439	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:40137439C>A	ENST00000278198.2	-	2	2367	c.404G>T	c.(403-405)cGt>cTt	p.R135L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R135L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	135					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTAGTAAGACGATTGTCAAA	0.428000													23	41					1.10513e-12	1.13694e-12	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107041152	107041152	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:107041152C>T	ENST00000409886.3	-	20	3358	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1091	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTGACCTCGTTTTTGAGA	0.393000													31	430					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479023	78479023	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78479023C>T	ENST00000370763.5	+	2	757	c.500C>T	c.(499-501)tCa>tTa	p.S167L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	167					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTAGAGTATCACTTGAAGAG	0.418000													43	75					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79662834	79662834	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:79662834G>A	ENST00000329138.4	+	15	1333	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	400	Interaction with SNX1 (By similarity).		E -> D (in dbSNP:rs34868130).		cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACAATGGCGAGTCTGAGGA	0.642000													6	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615276	179615276	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615276C>T	ENST00000360870.5	-	46	12073	c.11851G>A	c.(11851-11853)Gaa>Aaa	p.E3951K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9768							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)			TCTTGAGATTCAATTTCTTGA	0.353000													10	11					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814238	2814238	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814238G>A	ENST00000301740.8	+	11	4258	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1237	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAAGATGAAGAGTTAATGGA	0.443000													21	258					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30891224	30891224	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30891224C>T	ENST00000321897.5	+	24	3040	c.2408C>T	c.(2407-2409)tCg>tTg	p.S803L	VARS2_ENST00000541562.1_Missense_Mutation_p.S833L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.S803L|VARS2_ENST00000542001.1_Missense_Mutation_p.S663L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	803					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGAGAGCTCTCGCTCGTCACT	0.627000													39	39					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486339	94486339	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:94486339G>T	ENST00000375708.3	-	9	2635	c.2437C>A	c.(2437-2439)Ccc>Acc	p.P813T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	813	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCGGCGGGGGCACCATGGGT	0.652000													34	91					6.29468e-14	6.51096e-14	1	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866600	106866600	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:106866600C>G	ENST00000390618.2	-	0	231																											CAGCTCATCTCATTGCTACTG	0.587000													125	187					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78163136	78163136	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78163136C>G	ENST00000370793.1	-	25	3041	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	USP33_ENST00000357428.1_Missense_Mutation_p.E899Q|USP33_ENST00000370794.3_Missense_Mutation_p.E868Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATGTTTCTTCAGAAATCTGG	0.388000													10	112					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633749	45633749	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:45633749C>T	ENST00000267430.5	+	10	1854	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	FANCM_ENST00000556036.1_Missense_Mutation_p.S590F|FANCM_ENST00000542564.2_Missense_Mutation_p.S564F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	590	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATTATCCTTTCTGAAGGACGA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	20					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56148918	56148918	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:56148918C>G	ENST00000452681.2	-	11	1238	c.1089G>C	c.(1087-1089)gaG>gaC	p.E363D	PHKG1_ENST00000297373.2_Missense_Mutation_p.E331D|PHKG1_ENST00000537360.1_Missense_Mutation_p.E277D	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	331	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGATGACGATCTCCCGGGTCA	0.642000													24	54					0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111168434	111168434	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111168434G>A	ENST00000335007.5	-	3	508	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PPP1CC_ENST00000340766.5_Silent_p.L106L|PPP1CC_ENST00000551676.1_Silent_p.L106L|PPP1CC_ENST00000550991.1_Silent_p.L106L|PPP1CC_ENST00000546933.1_Silent_p.L115L	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	106					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AGGCCAGTAAGAGGCAGATCG	0.418000													29	49					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35463264	35463264	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:35463264G>A	ENST00000308700.6	+	1	1136	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	ISX_ENST00000404699.2_Missense_Mutation_p.A62T|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						AGAAGCTGCGGCCTCAGGCTC	0.572000													10	24					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4128056	4128056	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:4128056C>T	ENST00000465828.1	-	5	706	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	ECI2_ENST00000413766.2_Missense_Mutation_p.E4K|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.E141K|ECI2_ENST00000361538.2_Missense_Mutation_p.E141K|ECI2_ENST00000380118.3_Missense_Mutation_p.E171K|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	171					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CGCATAATTTCATGATACATC	0.378000													52	94					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532755	16532755	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16532755G>A	ENST00000270747.3	-	7	1354	c.1218C>T	c.(1216-1218)gcC>gcT	p.A406A	ARHGEF19_ENST00000421561.1_Silent_p.A406A|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	406	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGCTCGGCAGAGCCTA	0.612000													4	13					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466821	164466821	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:164466821C>T	ENST00000333129.3	-	3	1835	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	507						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGTCTGACCTCAACACTGGCC	0.507000													10	99					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130254	122130254	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:122130254C>T	ENST00000334010.7	-	11	2154	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	CADPS2_ENST00000313070.7_Missense_Mutation_p.R578K|CADPS2_ENST00000449022.2_Missense_Mutation_p.R578K|CADPS2_ENST00000412584.2_Missense_Mutation_p.R578K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	578	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCATAATATTCTGTCCTGTTC	0.413000													11	137					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36976630	36976630	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:36976630G>A	ENST00000274963.8	+	2	260	c.89G>A	c.(88-90)aGa>aAa	p.R30K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	30					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						GCAGCACCCAGAGGCCAGAGG	0.627000													33	94					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040226	87040226	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:87040226G>A	ENST00000370563.3	+	10	1513	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	491						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAAACAGCTCGAAAGTAAGGG	0.343000													21	43					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17474681	17474681	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17474681C>G	ENST00000302539.4	-	7	1286	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	ABCC8_ENST00000389817.3_Missense_Mutation_p.L387F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	387	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGCTCCTCTCAAGTTAATTC	0.408000													36	65					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155226327	155226327	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155226327C>G	ENST00000357232.3	-	16	3951	c.3952G>C	c.(3952-3954)Gag>Cag	p.E1318Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1318	Cadherin 11.				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)		GAATTTATCTCGAATAATTCA	0.368000													11	20					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41903172	41903172	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41903172G>A	ENST00000398393.1	-	7	896	c.636C>T	c.(634-636)aaC>aaT	p.N212N	MPP3_ENST00000398389.4_Silent_p.N187N			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	187	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTGCGATCCCGTTCACTTCTC	0.607000													25	47					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433935	49433935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:49433935G>A	ENST00000301067.7	-	31	7617	c.7618C>T	c.(7618-7620)Cag>Tag	p.Q2540*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTACTGCCTGAGGGAAAGTG	0.642000													22	36					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29809785	29809785	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29809785G>A	ENST00000561482.1	+	3	790	c.153G>A	c.(151-153)caG>caA	p.Q51Q	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.Q51Q|KIF22_ENST00000569382.2_Silent_p.Q51Q|KIF22_ENST00000160827.4_Silent_p.Q119Q	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	119	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TGGAAGGGCAGAATGCCAGTG	0.542000													10	136					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214770	204214770	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:204214770G>A	ENST00000272203.3	-	14	2321	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R689W	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	669										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCGTGCCCCGGGAGGGGTTG	0.597000													5	99					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430805	43430805	+	RNA	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:43430805G>C	ENST00000446844.3	-	0	862				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTGAAGGTTGAGACATCCTT	0.488000													10	405					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065478	73065478	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:73065478G>A	ENST00000429829.1	-	0	7110					NR_001564.2																						AAGGGCATCTGAGAGTAGGAC	0.443000													9	64					0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558860	48558860	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:48558860G>A	ENST00000376687.3	+	3	734	c.544G>A	c.(544-546)Gag>Aag	p.E182K	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Intron|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E193K	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	182	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTGGGCTGCGAGTGCCAGGA	0.637000													36	10					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122247306	122247306	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122247306C>G	ENST00000360356.2	-	11	2697	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	PARP9_ENST00000492382.1_Missense_Mutation_p.E369Q|PARP9_ENST00000477522.2_Missense_Mutation_p.E789Q|PARP9_ENST00000471785.1_Missense_Mutation_p.E789Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	824	PARP catalytic.				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)		TGTACATATTCCTGGGTGCAT	0.463000													93	69					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71478220	71478220	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:71478220C>G	ENST00000304743.2	+	10	3178	c.2732C>G	c.(2731-2733)tCt>tGt	p.S911C	PCNX_ENST00000238570.5_Missense_Mutation_p.S911C|PCNX_ENST00000439984.3_Missense_Mutation_p.S805C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	911						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACACAGATTCTCATGTATCC	0.289000													5	37					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108020	39108020	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39108020G>A	ENST00000591517.1	-	3	250	c.222C>T	c.(220-222)atC>atT	p.I74I	MAP4K1_ENST00000589130.1_Silent_p.I70I|MAP4K1_ENST00000586296.1_Silent_p.I74I|MAP4K1_ENST00000396857.2_Silent_p.I74I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	74	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTAGGCCACGATGTTGGCGT	0.557000													29	58					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303324	151303324	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303324C>T	ENST00000370323.4	-	4	1085	c.769G>A	c.(769-771)Gat>Aat	p.D257N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D257N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	257	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCATCCCATCATACAGCCCC	0.527000													65	28					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37287853	37287853	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:37287853G>A	ENST00000233099.5	-	12	1815	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	HEATR5B_ENST00000354531.2_Silent_p.L574L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	574							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATCTTGGGCAGATGGTAACGA	0.428000													59	57					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51381741	51381741	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51381741G>A	ENST00000325321.3	+	5	937	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	KLK2_ENST00000391810.2_Missense_Mutation_p.E136K|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	238	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGCCCTGCCTGAAAAGCCTGC	0.557000			T	ETV4	prostate								103	184					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836981	47836981	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47836981C>A	ENST00000396965.1	-	7	855	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	ZNF182_ENST00000305127.6_Missense_Mutation_p.D169Y|ZNF182_ENST00000376943.3_Missense_Mutation_p.D150Y	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCTAAATTATCTACCATATTA	0.323000													20	14					8.34094e-07	8.45925e-07	1	1	0
ZNF74	7625	broad.mit.edu	37	22	20760525	20760525	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20760525C>T	ENST00000400451.2	+	5	1716	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S401L|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.S369L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	401					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCTGCCACTCATCCCTCACC	0.637000													6	135					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33425659	33425659	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:33425659A>G	ENST00000484457.1	+	14	1221	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	FBXL2_ENST00000542085.1_Missense_Mutation_p.Q87R|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q293R|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Missense_Mutation_p.Q118R|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q309R	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	377					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TACGACTGCCAGCAGGTTACC	0.567000													43	64					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99127078	99127078	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:99127078C>T	ENST00000397517.2	-	5	670	c.594G>A	c.(592-594)tcG>tcA	p.S198S	STK24_ENST00000376547.3_Silent_p.S210S|STK24_ENST00000539966.1_Silent_p.S179S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	210	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCCTCACCTTCGAGTCATAGG	0.587000													63	128					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624686	111624686	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111624686C>G	ENST00000333999.3	+	1	84	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	28						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACAGGCCCTCCAGACTGCCT	0.617000													8	87					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548799	61548799	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:61548799C>T	ENST00000278836.5	+	21	2858	c.2762C>T	c.(2761-2763)tCa>tTa	p.S921L	MYRF_ENST00000265460.5_Missense_Mutation_p.S886L|MYRF_ENST00000389602.4_Missense_Mutation_p.S312L|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		accaaccGCTCAGGTAAGGCT	0.597000													48	73					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134265047	134265047	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:134265047C>G	ENST00000337090.3	+	8	1019	c.846C>G	c.(844-846)ctC>ctG	p.L282L	CEP63_ENST00000513612.2_Silent_p.L282L|CEP63_ENST00000383229.3_Silent_p.L282L|CEP63_ENST00000354446.3_Silent_p.L282L|CEP63_ENST00000332047.5_Silent_p.L282L|CEP63_ENST00000606977.1_Silent_p.L282L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	282					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGAAAATCTCATACATGAGG	0.328000													75	57					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64415251	64415251	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415251C>T	ENST00000395251.1	+	4	585	c.251C>T	c.(250-252)tCa>tTa	p.S84L	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	84										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTAATTCATCAGATCTGGAA	0.527000													28	58					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	55					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				9	18					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14277832	14277832	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:14277832C>T	ENST00000340736.6	-	5	702	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Intron|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTACCTTTCTGCTCCACTT	0.393000													20	43					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53262993	53262993	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53262993G>C	ENST00000566029.1	+	8	2476	c.2267G>C	c.(2266-2268)aGa>aCa	p.R756T	CHD9_ENST00000447540.1_Missense_Mutation_p.R756T|CHD9_ENST00000398510.3_Missense_Mutation_p.R756T|CHD9_ENST00000564845.1_Missense_Mutation_p.R756T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	756	Chromo 1.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAGCACAAAGAGCACATTTT	0.333000													5	9					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:118715997G>A	ENST00000376300.2	-	12	1086	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316W|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398000													6	59					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138712793	138712793	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:138712793G>A	ENST00000389532.4	-	11	3778	c.3714C>T	c.(3712-3714)ctC>ctT	p.L1238L	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.L960L|CAMSAP1_ENST00000409386.3_Silent_p.L1249L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1238						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCAGGTCGGAGAGGTCCACTT	0.642000													34	47					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492988	21492988	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:21492988C>G	ENST00000377142.4	-	2	751	c.395G>C	c.(394-396)cGa>cCa	p.R132P		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	132					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAAGCACTCGCCGCTTTCG	0.682000													3	33					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951477	49951477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:49951477C>G	ENST00000257981.6	+	15	3253	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	998	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTCCACCTCAGACTCAGAG	0.692000													45	77					0	0	1	0	0
CNIH2	254263	broad.mit.edu	37	11	66049742	66049742	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66049742G>C	ENST00000528852.1	+	2	361	c.94G>C	c.(94-96)Gat>Cat	p.D32H	CNIH2_ENST00000311445.6_Missense_Mutation_p.D32H|CNIH2_ENST00000530519.1_3'UTR			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	32					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CATAGCCTTTGATGAGCTGCG	0.592000													37	55					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:70281924C>T	ENST00000377844.4	-	10	2779	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368000													22	36					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416584	124416584	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124416584C>T	ENST00000409039.3	+	75	12896	c.12871C>T	c.(12871-12873)Cct>Tct	p.P4291S	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4291					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGCTTGCTCCTGACACCTT	0.507000													47	61					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677127	233677127	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:233677127C>T	ENST00000373566.3	+	19	2296	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	GIGYF2_ENST00000409451.3_Missense_Mutation_p.S699L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S678L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S672L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S678L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S509L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S700L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	678	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCATTCCCTCAGTAACTAGG	0.373000													4	51					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27326976	27326976	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:27326976C>G	ENST00000358918.3	-	13	1814	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	APP_ENST00000346798.3_Missense_Mutation_p.E539Q|APP_ENST00000359726.3_Missense_Mutation_p.E483Q|APP_ENST00000448388.2_Missense_Mutation_p.E429Q|APP_ENST00000439274.2_Missense_Mutation_p.E483Q|APP_ENST00000440126.3_Missense_Mutation_p.E515Q|APP_ENST00000348990.5_Missense_Mutation_p.E464Q|APP_ENST00000357903.3_Missense_Mutation_p.E520Q|APP_ENST00000354192.3_Missense_Mutation_p.E408Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	539	Collagen-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTCATGCGCTCATAAATCACA	0.458000													13	20					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52818532	52818532	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52818532G>A	ENST00000252245.5	-	9	1645	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	475	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGTAGAGGTGACCACAGCTG	0.617000													10	183					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38912184	38912184	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:38912184C>G	ENST00000302328.3	-	22	4009	c.3811G>C	c.(3811-3813)Gag>Cag	p.E1271Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1233Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1271Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1271Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1271					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)	TGACTCACCTCTGTGGAATCA	0.418000													23	38					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702870	30702870	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:30702870T>G	ENST00000256246.2	-	1	3738	c.3664A>C	c.(3664-3666)Agt>Cgt	p.S1222R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1222										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCGTCACAACTGTTTTCTTTA	0.284000													13	12					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807254	15807254	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:15807254C>T	ENST00000550308.1	+	12	1709	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	CYP4F12_ENST00000324632.9_Silent_p.F443F	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACGACCCCTTCCGCTTTGACC	0.557000													79	141					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207427003	207427003	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:207427003C>T	ENST00000264377.3	+	13	1659	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ADAM23_ENST00000374416.1_Missense_Mutation_p.S444F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S444F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	444	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGGAACCTTCTAGCAGAAAG	0.393000													99	161					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217293450	217293450	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217293450G>A	ENST00000357276.4	+	7	1609	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E427K|SMARCAL1_ENST00000479008.1_3'UTR	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	427					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGACCTTTCTGAAGTGGACCC	0.522000									Schimke Immuno-Osseous Dysplasia				62	107					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149529910	149529910	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149529910G>A	ENST00000378016.2	+	0	15327							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)			TAGACCCGGAGAGCCCTGTGC	0.642000													31	51					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3879429	3879429	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879429C>G	ENST00000324333.10	-	7	2023	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	GLIS3_ENST00000381971.3_Missense_Mutation_p.E765D|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	p.E610E(1)|p.E765E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCTTACCTCTCAGCTCCTG	0.517000													7	99					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79362387	79362387	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79362387G>A	ENST00000264895.6	+	41	6041	c.5601G>A	c.(5599-5601)caG>caA	p.Q1867Q	FRAS1_ENST00000325942.6_Silent_p.Q1867Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1866					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAACCTCCAGAGAGATGCCA	0.423000													11	25					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185183554	185183554	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183554G>C	ENST00000265026.3	+	9	1742	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.E326Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E470Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E263Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E326Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	470					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGATATTCGTGAACACTATGA	0.468000													9	269					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111098987	111098987	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098987G>A	ENST00000356742.5	-	3	1041	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HVCN1_ENST00000548312.1_Silent_p.F96F|HVCN1_ENST00000439744.2_Silent_p.F76F|HVCN1_ENST00000242607.8_Silent_p.F96F			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	96					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGTGGGAGCTGAACAGTTTCC	0.667000													46	124					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44697275	44697275	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:44697275C>T	ENST00000290231.6	-	4	532	c.368G>A	c.(367-369)aGa>aAa	p.R123K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	123	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGAGCCTTCTCTCCTGAAAAG	0.383000													6	81					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176710792	176710792	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:176710792G>A	ENST00000439151.2	+	20	6059	c.6014G>A	c.(6013-6015)cGa>cAa	p.R2005Q	NSD1_ENST00000361032.4_Missense_Mutation_p.R1902Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1736Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1736Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2005	SET.		R -> Q (in SOTOSS; strongly reduced enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCTAGGACCGAATCATTGAT	0.418000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	27					0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26769239	26769239	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:26769239G>C	ENST00000360009.2	+	4	275	c.198G>C	c.(196-198)ttG>ttC	p.L66F	DHDDS_ENST00000427245.2_Missense_Mutation_p.L66F|DHDDS_ENST00000526219.1_Missense_Mutation_p.L66F|DHDDS_ENST00000525682.2_Missense_Mutation_p.L66F|DHDDS_ENST00000236342.7_Missense_Mutation_p.L66F|DHDDS_ENST00000374185.3_Missense_Mutation_p.L66F|DHDDS_ENST00000531955.1_3'UTR	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	66							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGTGGTGTTTGAACCTGGGCA	0.512000													17	179					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21556037	21556037	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:21556037C>T	ENST00000298925.5	+	17	2000	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S588L|NELL1_ENST00000325319.5_Missense_Mutation_p.S531L|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	588	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGACCTATTCACTGTCCGGG	0.542000													37	60					0	0	1	0	0
KANTR	102723508	broad.mit.edu	37	X	53172528	53172528	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:53172528G>A	ENST00000604849.1	+	0	1091																											GGATCTTCATGAGGTAGTTGG	0.592000													25	3					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56347540	56347540	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56347540C>G	ENST00000370754.5	-	89	21249	c.21250G>C	c.(21250-21252)Gag>Cag	p.E7084Q	DST_ENST00000361203.3_Missense_Mutation_p.E6795Q|DST_ENST00000421834.2_Missense_Mutation_p.E4818Q|DST_ENST00000244364.6_Missense_Mutation_p.E4492Q|DST_ENST00000446842.2_Missense_Mutation_p.E6580Q|DST_ENST00000370788.2_Missense_Mutation_p.E4709Q|DST_ENST00000370769.4_Missense_Mutation_p.E6906Q|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6904					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACGGTCTCCCAGCGTGTG	0.517000													40	62					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185183641	185183641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183641G>T	ENST00000265026.3	+	9	1829	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E355*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E499*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E292*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E355*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	499	Leucine-zipper 2.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCGGGAGAAGGAGCTCATTAA	0.438000													5	157					0.014758	0.0147838	1	1	0
VRTN	55237	broad.mit.edu	37	14	74824856	74824856	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:74824856C>T	ENST00000256362.4	+	2	1611	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	457					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCAGCCCTCTCTGCTGCTGGG	0.592000													42	70					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122536	12122536	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:12122536C>T	ENST00000379388.2	+	4	2840	c.2508C>T	c.(2506-2508)atC>atT	p.I836I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	836					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTACCTATCACAAGAAGTA	0.413000													56	91					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061115	18061115	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:18061115C>T	ENST00000205890.5	+	51	9206	c.8868C>T	c.(8866-8868)ttC>ttT	p.F2956F	MYO15A_ENST00000418233.3_Silent_p.F220F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2956	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			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)					CCCCCGACTTCCTGCAGCTGC	0.716000													20	39					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	25					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4073712	4073712	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:4073712C>T	ENST00000274673.3	-	5	592	c.189G>A	c.(187-189)ctG>ctA	p.L63L	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	63																	GTTCTAGCATCAGTTGCTCCA	0.318000													21	37					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24649654	24649654	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:24649654G>A	ENST00000354464.6	-	30	3416	c.3240C>T	c.(3238-3240)ctC>ctT	p.L1080L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	1080					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGTCTAGGAGAGGCCCAGTA	0.567000													15	22					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673202	74673202	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74673202C>G	ENST00000334011.5	+	6	1145	c.927C>G	c.(925-927)ctC>ctG	p.L309L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	309	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCTTCTCTCTCAAGACATGTG	0.562000													6	119					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326073	160326073	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:160326073C>G	ENST00000368063.1	+	15	1795	c.1515C>G	c.(1513-1515)ttC>ttG	p.F505L	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.F505L|NCSTN_ENST00000368065.4_Missense_Mutation_p.F267L|NCSTN_ENST00000535857.1_Missense_Mutation_p.F387L|NCSTN_ENST00000294785.5_Missense_Mutation_p.F525L			Q92542	NICA_HUMAN	nicastrin	525					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTATGGGTTCCTGATTAAAG	0.498000													21	37					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814810	2814810	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814810G>A	ENST00000301740.8	+	11	4830	c.4281G>A	c.(4279-4281)atG>atA	p.M1427I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1427	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCTGAAATGAAAGATGGTT	0.502000													16	222					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150528772	150528772	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150528772G>A	ENST00000271643.4	+	9	1742	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	ADAMTSL4_ENST00000369041.5_Silent_p.K502K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.K502K|ADAMTSL4_ENST00000369039.5_Silent_p.K525K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	502					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTATCAGAAGATCTTGTGGA	0.617000													14	158					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66332090	66332090	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66332090G>A	ENST00000310325.5	-	11	1369	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	420					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAGGGGCCGGAGAGGGCGGG	0.622000													6	26					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111098971	111098971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098971G>A	ENST00000356742.5	-	3	1057	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	HVCN1_ENST00000548312.1_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000439744.2_Nonsense_Mutation_p.Q82*|HVCN1_ENST00000242607.8_Nonsense_Mutation_p.Q102*			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	102					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCACCTACCTGAAACCTGTGG	0.657000													45	132					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250855	142250855	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:142250855G>A	ENST00000390360.3	-	0	212																											AATAATGGATGAGCCTTAGCC	0.483000													29	42					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	101					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64656897	64656897	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:64656897G>A	ENST00000357395.3	+	100	18279	c.7135G>A	c.(7135-7137)Gac>Aac	p.D2379N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D5857N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D5994N|SYNE2_ENST00000344113.4_Missense_Mutation_p.D5994N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.D2379N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D2628N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5994					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAGATCGATGACAAGCTCAA	0.388000													42	43					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200944633	200944633	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200944633G>A	ENST00000332129.2	-	32	4885	c.4569C>T	c.(4567-4569)ctC>ctT	p.L1523L	KIF21B_ENST00000461742.2_Silent_p.L1536L|KIF21B_ENST00000422435.2_Silent_p.L1536L|KIF21B_ENST00000360529.5_Silent_p.L1523L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1536					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTGGATGAGCTCCTGCT	0.602000													32	61					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006971	8006971	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:8006971C>T	ENST00000344293.5	+	3	1704	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	500					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						AGTGTCTCCTCCCACTCCCGA	0.458000													51	75					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451406	179451406	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451406C>G	ENST00000589042.1	-	308	64446	c.64222G>C	c.(64222-64224)Gaa>Caa	p.E21408Q	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12535Q|TTN_ENST00000359218.5_Missense_Mutation_p.E12468Q|TTN_ENST00000342992.6_Missense_Mutation_p.E18840Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19767Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12343Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19767	Fibronectin type-III 55.						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)			GGCTGCTCTTCTTCTCTGTAA	0.458000													48	78					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850485	58850485	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58850485G>A	ENST00000329665.4	+	3	1416	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTCAGCCCTGATCCGACATC	0.577000													50	98					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758271	25758271	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:25758271C>T	ENST00000586223.1	+	0	2705					NR_033892.1																						GCTTCCACCTCGGGGCCTTGG	0.567000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	18					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964593	92964593	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92964593G>A	ENST00000538690.1	+	5	736	c.175G>A	c.(175-177)Gct>Act	p.A59T	FAM133A_ENST00000355813.5_Missense_Mutation_p.A59T|FAM133A_ENST00000322139.4_Missense_Mutation_p.A59T|FAM133A_ENST00000332647.4_Missense_Mutation_p.A59T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	59	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAGCATTAGCTGAATTTGA	0.323000													5	16					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719804	50719804	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:50719804G>T	ENST00000449103.1	-	22	3787	c.3647C>A	c.(3646-3648)tCt>tAt	p.S1216Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1216Y			O15031	PLXB2_HUMAN	plexin B2	1216					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGTAGACAGACACCGCGAT	0.697000													37	36					2.87052e-16	2.99624e-16	1	1	0
PAX8	7849	broad.mit.edu	37	2	114004387	114004387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:114004387G>T	ENST00000429538.3	-	3	329	c.135C>A	c.(133-135)tgC>tgA	p.C45*	AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Nonsense_Mutation_p.C45*|PAX8_ENST00000348715.5_Nonsense_Mutation_p.C45*|PAX8_ENST00000263334.5_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000263335.7_Nonsense_Mutation_p.C45*	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	45	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GAGAGATGTCGCAGGGCCTTA	0.642000			T	PPARG	follicular thyroid		Thyroid dysgenesis						6	94					8.12818e-05	8.21435e-05	1	1	0
ABTB2	25841	broad.mit.edu	37	11	34174075	34174075	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34174075C>T	ENST00000435224.2	-	17	3361	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M793I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	793							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTAGGGCCTTCATGTGCTTGA	0.597000													14	88					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85345272	85345272	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:85345272C>T	ENST00000299927.3	+	8	3474	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	ZNF592_ENST00000560079.2_Missense_Mutation_p.S1151F			Q92610	ZN592_HUMAN	zinc finger protein 592	1151					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)			GTGGACAGCTCCACAGCCCAA	0.552000													21	42					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73369684	73369684	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73369684G>A	ENST00000326291.6	+	4	879	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	181						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTCTATTCCTGAATATGTATC	0.299000													20	31					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483728	71483728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:71483728G>C	ENST00000393539.2	-	6	1013	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ZNF23_ENST00000564528.1_Nonsense_Mutation_p.S9*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.S67*|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.S67*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.S9*|AC010547.9_ENST00000561908.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGTTCAAATGATACATTCTC	0.338000													39	57					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816325	102816325	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:102816325C>G	ENST00000216756.6	-	4	407	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.E138Q	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	123					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGGTAGTTTTCTAGTTCACAA	0.388000													17	40					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28604361	28604361	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28604361G>C	ENST00000434452.1	-	6	883	c.729C>G	c.(727-729)ttC>ttG	p.F243L	DSC3_ENST00000360428.4_Missense_Mutation_p.F243L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	243	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTGCTTCTGTGAAAACAGGGT	0.373000													16	43					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													5	51					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20836610	20836610	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:20836610G>T	ENST00000262715.5	-	55	7910	c.7870C>A	c.(7870-7872)Ctg>Atg	p.L2624M	TEP1_ENST00000556935.1_Missense_Mutation_p.L2516M	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2624					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.L2624M(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCCAATTCAGAAAGTACACA	0.493000													30	68					3.99451e-17	4.17707e-17	1	1	0
TMEM39A	55254	broad.mit.edu	37	3	119176976	119176976	+	Silent	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:119176976A>G	ENST00000319172.5	-	3	645	c.225T>C	c.(223-225)ttT>ttC	p.F75F	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	75						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AAAGGAATTCAAAGAGTAGGC	0.433000													41	167					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79297016	79297016	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79297016C>G	ENST00000264895.6	+	26	3715	c.3275C>G	c.(3274-3276)tCt>tGt	p.S1092C	FRAS1_ENST00000325942.6_Missense_Mutation_p.S1092C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1091					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCCACACCTCTAATGAAACA	0.448000													10	24					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228324	28228324	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28228324T>C	ENST00000343684.3	+	1	1227	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	392										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGAGAGATGGTGCACAAAAAG	0.373000													17	37					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837863	79837863	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:79837863G>A	ENST00000261205.4	+	10	1596	c.939G>A	c.(937-939)gtG>gtA	p.V313V	SYT1_ENST00000393240.3_Silent_p.V313V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.V310V|SYT1_ENST00000552744.1_Silent_p.V313V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	313	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCCTTATGTGAAGATTCATC	0.338000													4	70					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021537	51021537	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51021537C>G	ENST00000599957.1	-	3	1630	c.1433G>C	c.(1432-1434)gGa>gCa	p.G478A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G478A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	478	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		actgccccctccaacaccacc	0.746000													3	9					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419452	105419452	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105419452T>C	ENST00000333244.5	-	7	2455	c.2336A>G	c.(2335-2337)gAc>gGc	p.D779G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	779						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTTCAGGTCCAGCTTGGG	0.632000													116	230					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356782	149356782	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356782G>C	ENST00000355292.3	-	2	1593	c.1231C>G	c.(1231-1233)Cta>Gta	p.L411V	NR3C2_ENST00000358102.3_Missense_Mutation_p.L411V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L411V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L411V|NR3C2_ENST00000511528.1_Missense_Mutation_p.L411V|NR3C2_ENST00000342437.4_Missense_Mutation_p.L411V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	411	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCCTCCTAGACATGAGCTG	0.403000													8	110					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527432	117527432	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:117527432C>T	ENST00000393203.2	+	8	2445	c.2298C>T	c.(2296-2298)ctC>ctT	p.L766L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	766	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGAGCGACCTCAGCCTGGAGC	0.592000													65	107					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184210761	184210761	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:184210761G>C	ENST00000403733.3	+	21	3556	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	WWC2_ENST00000504005.1_Missense_Mutation_p.Q801H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q1143H|WWC2_ENST00000513834.1_Missense_Mutation_p.Q1070H|WWC2_ENST00000508747.1_Missense_Mutation_p.Q247H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1119										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGAGGTTCCAGAGGCTTCTGA	0.557000													40	64					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542579	133542579	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:133542579G>A	ENST00000409261.1	-	14	2178	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S602L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	602							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGACACGTCTGAAGGACTTTT	0.507000													4	66					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11209061	11209061	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:11209061G>A	ENST00000445996.2	+	17	2455	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PHF14_ENST00000469407.1_3'UTR			O94880	PHF14_HUMAN	PHD finger protein 14	789							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAATGAAGCTGAAAGAAAAAA	0.274000													8	13					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969316	5969316	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:5969316C>T	ENST00000329564.6	+	1	747	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGGCTCCCACTTCATG	0.522000													116	155					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690236	96690236	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:96690236G>A	ENST00000434632.1	-	16	2067	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	GPAT2_ENST00000453542.1_Silent_p.L465L|GPAT2_ENST00000377137.3_Silent_p.L536L|GPAT2_ENST00000359548.4_Silent_p.L536L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	536					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCAGGTGTGTGAGGCCTGGGC	0.667000													50	92					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217594	26217594	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:26217594G>A	ENST00000303910.2	+	1	430	c.392G>A	c.(391-393)tGa>tAa	p.*131*		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	0					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)				AAGGGCAAGTGAAATGATTAC	0.527000													17	50					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75818864	75818864	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:75818864G>C	ENST00000322507.8	-	52	8279	c.7970C>G	c.(7969-7971)tCa>tGa	p.S2657*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.S1493*|COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S2657*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2657	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTTTTTGAGGTCACTAC	0.274000													24	23					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627758	43627758	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:43627758C>T	ENST00000332857.6	-	4	957	c.929G>A	c.(928-930)tGt>tAt	p.C310Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTCCATCTGACAGGTCTCTGG	0.537000													6	177					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31291049	31291049	+	RNA	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:31291049G>C	ENST00000554665.1	-	0	208																											TGCAGTTTTAGAGGCTTTGTT	0.343000													3	25					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349810	30349810	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:30349810G>C	ENST00000327564.7	+	1	1787	c.1726G>C	c.(1726-1728)Gag>Cag	p.E576Q	LRRC37B_ENST00000543378.2_Missense_Mutation_p.E467Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E549Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E549Q|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E561Q			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	549						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)				GCCTGTGCCAGAGCCCGACAC	0.537000													79	118					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30092859	30092859	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:30092859G>A	ENST00000346128.6	-	2	548	c.74C>T	c.(73-75)aCg>aTg	p.T25M	TJP1_ENST00000356107.6_Missense_Mutation_p.T25M|TJP1_ENST00000495972.2_Missense_Mutation_p.T25M|TJP1_ENST00000545208.2_Missense_Mutation_p.T25M|TJP1_ENST00000400011.2_Missense_Mutation_p.T29M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	25	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCTGTGAAGCGTCACTGTATG	0.383000													26	48					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18293498	18293498	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:18293498C>G	ENST00000441493.2	-	28	5879	c.5527G>C	c.(5527-5529)Gag>Cag	p.E1843Q	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1843						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)		TTAAGCTCCTCCTGCTTGGCC	0.582000													37	51					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529627	150529627	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150529627G>C	ENST00000271643.4	+	12	2099	c.1861_splice	c.e12-1	p.E621_splice	ADAMTSL4_ENST00000369041.5_Splice_Site_p.E621_splice|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Splice_Site_p.E621_splice|ADAMTSL4_ENST00000369039.5_Splice_Site_p.E644_splice	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	621	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGCACAGAGATTCTGAGGG	0.692000													9	75					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886121	60886121	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:60886121C>T	ENST00000252999.3	-	74	10184	c.10118G>A	c.(10117-10119)cGa>cAa	p.R3373Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3373	Laminin G-like 4.				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)	TCGGGAGCTTCGCGGGAGGAC	0.682000													18	25					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34175833	34175833	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34175833C>T	ENST00000435224.2	-	16	3283	c.2859G>A	c.(2857-2859)gtG>gtA	p.V953V	ABTB2_ENST00000298992.2_Silent_p.V767V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGTAGGTGTTCACGGCACTCT	0.632000													8	106					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276386	150276386	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276386C>G	ENST00000446148.2	-	7	890	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZNF300_ENST00000394226.2_Missense_Mutation_p.E139Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E103Q|ZNF300_ENST00000274599.5_Missense_Mutation_p.E139Q|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTGATTCTCTAGAAATCTC	0.403000													44	48					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33933498	33933498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:33933498G>A	ENST00000379238.1	-	18	2215	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	UBAP2_ENST00000449054.1_Nonsense_Mutation_p.Q700*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.Q433*|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.Q647*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.Q455*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.Q700*			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	700										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTAAGCTGAGAGAGAGGG	0.587000													22	37					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465587	24465587	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465587C>T	ENST00000382137.3	-	3	911	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Silent_p.V281V	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	281	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTCAGAGCTCACGTAAGCAT	0.498000													11	59					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730201	57730201	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:57730201G>A	ENST00000281282.5	+	2	82	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	2	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTGAACCATGGAGCTGTATTT	0.423000													156	287					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602323	37602323	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:37602323G>C	ENST00000518586.1	+	6	875	c.533G>C	c.(532-534)gGa>gCa	p.G178A	ERLIN2_ENST00000519638.1_Intron|ERLIN2_ENST00000335171.6_Intron|ERLIN2_ENST00000397228.2_Intron|ERLIN2_ENST00000523887.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000523107.1_Missense_Mutation_p.G178A			O94905	ERLN2_HUMAN	ER lipid raft associated 2	171	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTCACTTATGGACAGGAAATG	0.522000													11	12					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929020	23929020	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:23929020G>A	ENST00000382298.3	-	8	2319	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SACS_ENST00000382292.3_Silent_p.F577F|SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	577					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTTCTGAGAAGTACACCT	0.463000													45	88					0	0	1	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28097584	28097584	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28097584C>T	ENST00000340487.4	+	4	1052	c.903C>T	c.(901-903)ttC>ttT	p.F301F	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	301					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAGACTTCAGTGGGCGCA	0.448000													25	53					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599488	3599488	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:3599488C>G	ENST00000302006.3	+	2	478	c.426C>G	c.(424-426)ctC>ctG	p.L142L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	142						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAGCACGCTCAAGGCCTGGC	0.637000													39	63					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106165	190106165	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:190106165C>T	ENST00000264734.2	+	1	505	c.257C>T	c.(256-258)tCt>tTt	p.S86F	CLDN16_ENST00000456423.1_Missense_Mutation_p.S86F|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	86					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCCTTTTTCTCTGCTGGGTTT	0.502000													224	132					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38302190	38302190	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:38302190G>A	ENST00000260630.3	-	2	743	c.342C>T	c.(340-342)ttC>ttT	p.F114F	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.F114F	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	114					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GCCGGTCGGCGAAGGCCGAGC	0.697000													7	18					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187884	7187884	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:7187884G>C	ENST00000317370.8	+	7	1076	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	SLC2A4_ENST00000424875.2_Missense_Mutation_p.E260Q|SLC2A4_ENST00000571308.1_Missense_Mutation_p.E270Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	270					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGGAGCGTGAGCGGCCACT	0.637000													42	100					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130720094	130720094	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:130720094C>T	ENST00000510168.1	+	28	3210	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	ATP2C1_ENST00000505330.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S921L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S832L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S887L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S882L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S871L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S887L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	887					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTCACCTCATCAGTGTGCATA	0.363000									Hailey-Hailey disease				15	64					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833397	44833397	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:44833397C>A	ENST00000354340.4	-	4	964	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.D328Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.D311Y	NM_013380.3	NP_037512.3			zinc finger protein 112																		TCAATATCATCTTCTCTCTCA	0.383000													19	36					2.39187e-15	2.48303e-15	1	1	0
OLFM3	118427	broad.mit.edu	37	1	102290692	102290692	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:102290692G>A	ENST00000370103.4	-	4	695	c.482C>T	c.(481-483)tCt>tTt	p.S161F	OLFM3_ENST00000359814.3_Missense_Mutation_p.S181F|OLFM3_ENST00000338858.5_Missense_Mutation_p.S181F|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.S86F	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	181						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAGGACAGCAGACAGATTCCT	0.468000													4	40					0	0	1	0	0
PEX11G	92960	broad.mit.edu	37	19	7542149	7542149	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:7542149G>A	ENST00000593942.1	-	7	957	c.455C>T	c.(454-456)tCa>tTa	p.S152L	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Missense_Mutation_p.S222L			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	222						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GCTGAGGATTGAGGAGATGGT	0.721000													5	11					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53905447	53905447	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53905447G>A	ENST00000335754.3	-	11	1479	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	ACTR8_ENST00000482349.1_Missense_Mutation_p.S349F|ACTR8_ENST00000231909.7_Missense_Mutation_p.S165F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	460					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGAAGATCAGAGGACTGGCC	0.507000													49	46					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506723	37506723	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506723G>A	ENST00000374660.1	+	39	3472	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1006K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1006K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						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						GCATAGGAAAGAGTTAGAAGT	0.323000													6	57					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41088907	41088907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:41088907C>T	ENST00000324545.7	+	43	7939	c.7306C>T	c.(7306-7308)Cag>Tag	p.Q2436*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2436*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2436					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.Q2429*(1)|p.Q2436*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGCAATCCTCAGTACACTTA	0.428000													42	16					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95062203	95062203	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95062203C>T	ENST00000545558.1	-	14	3763	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K	NOL8_ENST00000535387.1_Missense_Mutation_p.E1053K|NOL8_ENST00000542053.1_Missense_Mutation_p.E1023K|NOL8_ENST00000442668.2_Missense_Mutation_p.E1091K|NOL8_ENST00000358855.4_Missense_Mutation_p.E1023K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1091					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTGTTTCTTCAGTAACATCT	0.378000													8	273					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15457957	15457957	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:15457957G>C	ENST00000380821.3	+	8	1156		c.e8-1			NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa						regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ACGAACAAAAGGCTTGTGCAT	0.333000													35	38					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2338038	2338038	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2338038C>T	ENST00000301732.5	-	21	3693	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R940H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	998					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)				GAGCACCTCGCGGGGCTCCTG	0.667000													19	27					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17316865	17316865	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:17316865G>C	ENST00000595618.1	+	32	5313	c.5161G>C	c.(5161-5163)Gaa>Caa	p.E1721Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1721Q|MYO9B_ENST00000594824.1_Missense_Mutation_p.E1721Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1721	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAAGCTCCTGGAACACGTGGA	0.672000													30	43					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328439	61328439	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:61328439G>C	ENST00000283752.5	-	2	155	c.12C>G	c.(10-12)ctC>ctG	p.L4L	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.L4L	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	4					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						TGGCTTCACTGAGTGAATTCA	0.393000													77	133					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84649756	84649756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:84649756G>T	ENST00000370689.2	+	4	538	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PRKACB_ENST00000370688.3_Nonsense_Mutation_p.E92*|PRKACB_ENST00000370680.1_Nonsense_Mutation_p.E98*|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.E139*|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.E96*|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.E99*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394839.2_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	92	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACTTTGAATGAGAAAAGAAT	0.264000													25	39					2.48779e-11	2.55021e-11	1	1	0
SMPD3	55512	broad.mit.edu	37	16	68405623	68405623	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:68405623G>A	ENST00000219334.5	-	3	1065	c.462C>T	c.(460-462)atC>atT	p.I154I	SMPD3_ENST00000568373.1_Silent_p.I154I|SMPD3_ENST00000563226.1_Silent_p.I154I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	154					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTCTCTGCCCGATCTCCTTGG	0.592000													11	30					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338598	103338598	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:103338598G>A	ENST00000267273.6	-	4	583	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	193							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GACCACATCTGAGGCTAGGAC	0.493000													23	42					0	0	1	0	0
UTS2B	257313	broad.mit.edu	37	3	190993061	190993061	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:190993061G>A	ENST00000340524.5	-	8	1100	c.314C>T	c.(313-315)tCt>tTt	p.S105F	UTS2B_ENST00000427544.2_Missense_Mutation_p.S105F	NM_198152.3	NP_937795.2			urotensin 2B																		AGGATGAGAAGAGAATAGACC	0.353000													51	177					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054045	2054045	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:2054045C>T	ENST00000262113.4	+	22	2889	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	MYOM2_ENST00000523438.1_Silent_p.I341I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	916	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGGAAATCAGTGCTGGTG	0.502000													38	60					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797459	7797459	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:7797459C>T	ENST00000303635.7	+	15	3694	c.3487C>T	c.(3487-3489)Ctg>Ttg	p.L1163L	CAMTA1_ENST00000439411.2_Silent_p.L1163L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCAGAGTGTCTGGAGCACCT	0.577000			T	WWTR1	epitheliod hemangioendothelioma								60	81					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360459	74360459	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:74360459C>T	ENST00000377044.4	-	4	1048	c.509G>A	c.(508-510)aGa>aAa	p.R170K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R170K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	170	G8.					integral to membrane				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)		AGTAATATTTCTGGATCCATC	0.423000													22	67					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:43403588C>T	ENST00000244533.3	+	3	1938	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567000													63	91					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121468867	121468867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:121468867C>G	ENST00000305949.1	+	7	749	c.704C>G	c.(703-705)tCa>tGa	p.S235*		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	235					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313000													45	104					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66456169	66456169	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:66456169C>T	ENST00000246868.2	-	4	762	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	193					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACCTTGATCAGTGGCTTGA	0.368000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				14	27					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131772411	131772411	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:131772411G>C	ENST00000372564.3	-	8	871	c.726C>G	c.(724-726)atC>atG	p.I242M	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.I246M|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.I221M|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.I242M	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	242	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GAGTGCTACTGATTCCCTCCA	0.627000													27	59					0	0	1	0	0
NDUFS5	4725	broad.mit.edu	37	1	39500167	39500167	+	Nonstop_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:39500167G>C	ENST00000372969.3	+	3	407	c.320G>C	c.(319-321)tGa>tCa	p.*107S	NDUFS5_ENST00000372967.3_Nonstop_Mutation_p.*107S	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	CCTCGGCCCTGAACAGAGCAG	0.507000													33	47					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116425	3116425	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:3116425C>T	ENST00000400569.3	-	21	3540	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	MYOM1_ENST00000356443.4_Silent_p.P1069P|MYOM1_ENST00000261606.7_Silent_p.P973P			P52179	MYOM1_HUMAN	myomesin 1	1069	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCAGTGACCGGAGTCCGCC	0.542000													5	45					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34182628	34182628	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34182628C>G	ENST00000435224.2	-	11	2643	c.2218_splice	c.e11-1	p.G740_splice	ABTB2_ENST00000298992.2_Splice_Site_p.G554_splice	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	554							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCAGGGGACTCCTGGTCCAGG	0.647000													11	73					0	0	1	0	0
ACTG1P17	283693	broad.mit.edu	37	15	83394962	83394962	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:83394962C>G	ENST00000560958.1	-	0	1324					NR_036446.1																						ATTCCAGTTTCCTAAGGCTAG	0.473000													3	3					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156710944	156710944	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710944G>C	ENST00000264424.8	+	5	458	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E126Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E148Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E106Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E58Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	126					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACTGATGCAGAAAAGGGCAA	0.468000													40	90					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908941	123908941	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:123908941G>A	ENST00000330487.5	-	1	776	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567000													8	45					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20488383	20488383	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:20488383G>C	ENST00000346618.3	+	6	1105	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	E2F3_ENST00000535432.1_Missense_Mutation_p.E216Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	347					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGGGCCCATTGAGGTTTACTT	0.403000													54	69					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73872581	73872581	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:73872581C>T	ENST00000334126.7	-	3	572	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E116K|C2CD3_ENST00000539061.1_Missense_Mutation_p.E116K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	116						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGATTACTTCCAGCACCAGC	0.363000													51	33					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39321782	39321782	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39321782C>G	ENST00000221418.4	-	3	517	c.285G>C	c.(283-285)aaG>aaC	p.K95N	AC104534.3_ENST00000594769.1_Missense_Mutation_p.R265T|ECH1_ENST00000597805.1_5'UTR	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGAAATCTTGTTGAAGC	0.537000													50	71					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475433	16475433	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475433C>T	ENST00000358432.5	-	3	417	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	88					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCTCTCCTCGGTACACCCA	0.532000													6	123					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38416863	38416863	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416863G>A	ENST00000323571.4	+	3	380	c.140G>A	c.(139-141)gGg>gAg	p.G47E	WIPF2_ENST00000536600.1_Missense_Mutation_p.G47E|WIPF2_ENST00000585043.1_Missense_Mutation_p.G47E|WIPF2_ENST00000394103.3_Missense_Mutation_p.G47E|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.G47E	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ATTTGCAAAGGGACCAAGCTG	0.517000										HNSCC(43;0.11)			36	90					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042712	90042712	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:90042712C>T	ENST00000535571.1	+	2	1031	c.722C>T	c.(721-723)tCa>tTa	p.S241L	CLDN12_ENST00000287916.4_Missense_Mutation_p.S241L|CLDN12_ENST00000394605.2_Missense_Mutation_p.S241L	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	241					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCAGTAGTTTCACACACCACT	0.423000													50	84					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567229	99567229	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:99567229G>A	ENST00000331335.5	-	5	3761	c.3291C>T	c.(3289-3291)aaC>aaT	p.N1097N	FILIP1L_ENST00000471562.1_Silent_p.N857N|FILIP1L_ENST00000354552.3_Silent_p.N1097N|FILIP1L_ENST00000487087.1_Silent_p.N673N|FILIP1L_ENST00000383694.2_Silent_p.N857N|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1097						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTAGTGCCCCGTTAATTAAGC	0.453000													13	253					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810702	29810702	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29810702G>C	ENST00000561482.1	+	6	1310	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E225Q|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E225Q|KIF22_ENST00000160827.4_Missense_Mutation_p.E293Q	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	293	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCGGCTAAAAGAGAGTGGAGC	0.562000													11	81					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30926233	30926233	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:30926233C>T	ENST00000383096.3	-	9	782	c.600G>A	c.(598-600)atG>atA	p.M200I	CCDC178_ENST00000300227.8_Missense_Mutation_p.M200I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M200I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M200I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M200I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.M200I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M200I					coiled-coil domain containing 178																		AGTCAATTTTCATGTTAATCA	0.383000													16	62					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39591819	39591819	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39591819C>T	ENST00000594229.1	+	7	855	c.821C>T	c.(820-822)aCg>aTg	p.T274M	PAPL_ENST00000331256.5_Silent_p.Y315Y			Q6ZNF0	PAPL_HUMAN		0						extracellular region	acid phosphatase activity|metal ion binding										GCAAGCTGTACGGGTTGGAGG	0.597000													15	26					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063194	180063194	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180063194C>T	ENST00000367607.3	+	34	8372	c.7954C>T	c.(7954-7956)Cac>Tac	p.H2652Y	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2652						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCCATGTTCACCAGCAGTC	0.403000													15	23					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268886	1268886	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1268886C>T	ENST00000447027.1	+	31	10843	c.10785C>T	c.(10783-10785)ggC>ggT	p.G3595G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G3592G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3592	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCCTCTGGCGGGGACTTTG	0.682000													37	33					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814872G>C	ENST00000301740.8	+	11	4892	c.4343G>C	c.(4342-4344)aGa>aCa	p.R1448T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1448	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGGACTTAGAGATGGGTCT	0.493000													8	184					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148854	73148854	+	Nonstop_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:73148854C>G	ENST00000286657.4	-	22	3653	c.3617G>C	c.(3616-3618)tGa>tCa	p.*1206S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	0					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCACTTTCTCATCTTTCTAA	0.413000													6	76					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604854	80604854	+	Missense_Mutation	SNP	G	G	A	rs148607166	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:80604854G>A	ENST00000254037.2	+	3	3780	c.625G>A	c.(625-627)Gat>Aat	p.D209N	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.D209N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.D209N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.D209N			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	209							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		ACTCTATGCTGATGGTAAGTA	0.373000													24	17					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104342132	104342132	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:104342132G>A	ENST00000358755.4	+	6	2108	c.1791G>A	c.(1789-1791)atG>atA	p.M597I	FZD6_ENST00000540287.1_Missense_Mutation_p.M292I|FZD6_ENST00000523739.1_Missense_Mutation_p.M565I|FZD6_ENST00000522566.1_Missense_Mutation_p.M597I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	597					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAACATCAATGAGAGAGGTGA	0.498000													21	53					0	0	1	0	0
AVPI1	60370	broad.mit.edu	37	10	99439458	99439458	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:99439458C>G	ENST00000370626.3	-	2	772	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	69					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TTGAGGGCCTCAGCCACACGG	0.642000													3	52					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183679424	183679424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183679424C>A	ENST00000334444.6	-	16	2494	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E752*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	752	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGATCACTTCATCACAGTCA	0.388000													106	67					1.76042e-48	1.86474e-48	1	1	0
CST3	1471	broad.mit.edu	37	20	23615922	23615922	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23615922C>T	ENST00000398411.1	-	2	408	c.326G>A	c.(325-327)tGc>tAc	p.C109Y	CST3_ENST00000398409.1_Missense_Mutation_p.C109Y|CST3_ENST00000376925.3_Missense_Mutation_p.C109Y			P01034	CYTC_HUMAN	cystatin C	109					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ATGGAAGGGGCAGTTGTCCAA	0.542000													13	44					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745477	111745477	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111745477C>G	ENST00000374595.4	-	6	927	c.848G>C	c.(847-849)gGa>gCa	p.G283A	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G283A|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.G283A			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	283					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCAGTCTCTCCATTCGGTTT	0.318000													17	32					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15794688	15794688	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:15794688C>T	ENST00000281172.5	-	16	2081	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	EPS8_ENST00000543612.1_Missense_Mutation_p.E549K|EPS8_ENST00000540613.1_Missense_Mutation_p.E289K|EPS8_ENST00000543523.1_Missense_Mutation_p.E549K|EPS8_ENST00000542903.1_Missense_Mutation_p.E289K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	549	SH3.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCGAGAGCTCACTGTTGTTC	0.274000													4	53					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228714	3228714	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228714C>G	ENST00000217939.6	-	7	7684	c.7530G>C	c.(7528-7530)aaG>aaC	p.K2510N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2510	Ig-like C2-type 9.					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)				CGGAGTCGCTCTTCCTCAAAC	0.572000													18	5					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60689781	60689781	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60689781G>A	ENST00000582809.1	+	23	2364	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R725Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537000													28	108					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57504952	57504952	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:57504952C>T	ENST00000219252.5	+	9	1087	c.749C>T	c.(748-750)tCa>tTa	p.S250L		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	250					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|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCAGCCCTCTCAGGATTGAAG	0.478000													50	58					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77298846	77298846	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:77298846C>T	ENST00000255194.6	-	27	3340	c.3165G>A	c.(3163-3165)ttG>ttA	p.L1055L	AP3B1_ENST00000519295.1_Silent_p.L1006L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1055					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTAGCATCAATGACCCAC	0.448000									Hermansky-Pudlak syndrome				42	23					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3727505	3727505	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3727505G>C	ENST00000575671.1	-	1	800	c.71C>G	c.(70-72)tCa>tGa	p.S24*	TRAP1_ENST00000538171.1_Nonsense_Mutation_p.S180*|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.S233*|TRAP1_ENST00000573872.1_5'UTR			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	233					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCACCCATCTGAAAGCCACTG	0.552000													4	126					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626769	140626769	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:140626769G>A	ENST00000231173.3	+	1	1623	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGCGCTGAGCAGCGAGG	0.692000													64	34					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156710980	156710980	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710980G>C	ENST00000264424.8	+	5	494	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E138Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E160Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E118Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E70Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	138					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTACTACTCAGAGAGAGAAGG	0.453000													40	89					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935850	94935850	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:94935850T>G	ENST00000337425.5	-	2	456	c.382A>C	c.(382-384)Atc>Ctc	p.I128L	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.I92L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.I30L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.I110L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	110					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCCTGGTGGATGGCAGACTCT	0.577000													71	88					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485522	54485522	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54485522G>A	ENST00000270458.2	+	4	800	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687000													7	20					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110830990	110830990	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:110830990G>C	ENST00000485303.1	+	2	549	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	PVRL3_ENST00000493615.1_Missense_Mutation_p.E69Q|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.E92Q	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	92	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GATTTCATGGGAGAAGATACA	0.373000													33	86					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992778	144992778	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:144992778C>A	ENST00000322810.4	-	32	11791	c.11622G>T	c.(11620-11622)gtG>gtT	p.V3874V	PLEC_ENST00000436759.2_Silent_p.V3764V|PLEC_ENST00000354589.3_Silent_p.V3737V|PLEC_ENST00000356346.3_Silent_p.V3723V|PLEC_ENST00000398774.2_Silent_p.V3705V|PLEC_ENST00000345136.3_Silent_p.V3737V|PLEC_ENST00000357649.2_Silent_p.V3741V|PLEC_ENST00000354958.2_Silent_p.V3715V|PLEC_ENST00000527096.1_Silent_p.V3760V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3874	Globular 2.				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						GCTCCCCCTTCACCGGGTCCA	0.687000													27	48					8.24728e-16	8.57718e-16	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578020	67578020	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:67578020C>T	ENST00000310421.4	-	1	1432	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	392					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCCTCTTCAAGTTTTATG	0.413000													5	205					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692652	31692652	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:31692652G>A	ENST00000375483.3	+	14	1717	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	573						cytoplasm|extracellular region	lipid binding										GAAGATTTTTGACCTGGCATT	0.592000													21	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429333	179429333	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179429333G>A	ENST00000589042.1	-	326	81750	c.81526C>T	c.(81526-81528)Cgc>Tgc	p.R27176C	TTN_ENST00000342175.6_Missense_Mutation_p.R18303C|TTN_ENST00000359218.5_Missense_Mutation_p.R18236C|TTN_ENST00000342992.6_Missense_Mutation_p.R24608C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25535C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18111C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25535	Ig-like 129.						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)			GCTTCAGGGCGACCAGGTGGG	0.408000													19	20					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38698797	38698797	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:38698797C>G	ENST00000261438.5	+	6	1256	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	317					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATACTGGAATCAAACCTTTCC	0.488000													74	121					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157131748	157131748	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:157131748C>T	ENST00000362010.2	-	6	1135	c.828G>A	c.(826-828)ctG>ctA	p.L276L	VEPH1_ENST00000392832.2_Silent_p.L276L|VEPH1_ENST00000392833.2_Silent_p.L276L|VEPH1_ENST00000543418.1_Silent_p.L276L|VEPH1_ENST00000469007.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	276						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAATCTCTTTCAGCATTGGAA	0.433000													123	72					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124882689	124882689	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124882689C>G	ENST00000356219.3	-	17	2007	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	NCOR2_ENST00000404621.1_Missense_Mutation_p.E617Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.E188Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.E617Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	618	SANT 2.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCATTTCTTCTTCTGTCCAG	0.557000													33	84					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18301483	18301483	+	Nonstop_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:18301483C>G	ENST00000537258.1	-	6	956	c.791G>C	c.(790-792)tGa>tCa	p.*264S	HPS5_ENST00000396253.3_Missense_Mutation_p.L998F|HPS5_ENST00000438420.2_Missense_Mutation_p.L998F|HPS5_ENST00000349215.3_Missense_Mutation_p.L1112F			Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	0						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTTTGTATCAAGGCCCTGA	0.383000									Hermansky-Pudlak syndrome				5	54					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239404	155239404	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239404C>T	ENST00000368361.4	-	3	589	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CLK2_ENST00000361168.5_Missense_Mutation_p.D92N|CLK2_ENST00000536801.1_Missense_Mutation_p.D92N|CLK2_ENST00000355560.4_Missense_Mutation_p.D91N			P49760	CLK2_HUMAN	CDC-like kinase 2	92						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			TAGTCTGTGTCATAGTAGGCA	0.572000								Other conserved DNA damage response genes					29	219					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506719	37506719	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506719G>A	ENST00000374660.1	+	39	3468	c.3369G>A	c.(3367-3369)agG>agA	p.R1123R	ANKRD30A_ENST00000361713.1_Silent_p.R1004R|ANKRD30A_ENST00000602533.1_Silent_p.R1004R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						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						AGCAGCATAGGAAAGAGTTAG	0.333000													6	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614673	179614673	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179614673C>T	ENST00000360870.5	-	46	12676	c.12454G>A	c.(12454-12456)Gat>Aat	p.D4152N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3497							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)			TTAGTAATATCAGACAAAAAT	0.368000													17	36					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744365	54744365	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54744365C>T	ENST00000419410.2	-	6	1044	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R348Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.R348Q|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAAATAACCCCGTGACTGACA	0.547000													53	69					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160639928	160639928	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:160639928G>C	ENST00000504764.1	-	35	5070	c.5043C>G	c.(5041-5043)ctC>ctG	p.L1681L	CD302_ENST00000429078.2_Silent_p.L40L|LY75_ENST00000554112.1_Silent_p.L1681L|LY75_ENST00000553424.1_Silent_p.L1625L|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Silent_p.L40L|LY75-CD302_ENST00000505052.1_Silent_p.L1625L	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1550					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TGGCTTCTTGGAGAAAAATGT	0.333000													10	62					0	0	1	0	0
FCER1G	2207	broad.mit.edu	37	1	161188709	161188709	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:161188709G>A	ENST00000289902.1	+	5	262	c.237G>A	c.(235-237)ctG>ctA	p.L79L	FCER1G_ENST00000367992.3_Intron|FCER1G_ENST00000490414.1_3'UTR	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	79	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	ACGAGACTCTGAAGCATGAGA	0.532000													52	81					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123812020	123812020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123812020G>A	ENST00000420886.2	-	12	1644	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	SBNO1_ENST00000267176.4_Missense_Mutation_p.L548F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L548F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L549F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	549							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)		TGAGAAAGAAGAACTTCCTCA	0.358000													4	58					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979540	68979540	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:68979540G>A	ENST00000433211.1	-	6	842	c.668C>T	c.(667-669)tCa>tTa	p.S223L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S223L|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S223L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	223					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACAAGCTGAACAAATTGA	0.413000													8	92					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865022	57865022	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:57865022C>G	ENST00000228682.2	+	12	2590	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	GLI1_ENST00000543426.1_Silent_p.L705L|GLI1_ENST00000546141.1_Silent_p.L792L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	833					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACCCTGCCTCAATGCCCACC	0.592000													12	128					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41342660	41342660	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41342660G>A	ENST00000422280.1	+	9	1189	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NBR1_ENST00000590996.1_Missense_Mutation_p.E244K|NBR1_ENST00000589872.1_Missense_Mutation_p.E244K|NBR1_ENST00000542611.1_Missense_Mutation_p.E223K|NBR1_ENST00000341165.6_Missense_Mutation_p.E244K|NBR1_ENST00000389312.4_Missense_Mutation_p.E244K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	244					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGAAGATTGTGAAGCAGGGCC	0.488000													13	14					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169247	53169247	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:53169247G>C	ENST00000332411.2	-	2	793	c.740C>G	c.(739-741)tCa>tGa	p.S247*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	247	Coil 1B.|Rod.				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						CCCTAGAAGTGAATCTAGCTG	0.542000													97	159					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983235	65983235	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:65983235C>T	ENST00000443035.3	-	23	3909	c.3694G>A	c.(3694-3696)Gaa>Aaa	p.E1232K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E1189K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTATCATCTTCATCCTCCTCC	0.403000													9	10					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684020	74684020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74684020G>A	ENST00000334011.5	+	7	1203	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	329	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAGCAACCTCGTGACAGGTCT	0.552000													13	160					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914796	119914796	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:119914796G>A	ENST00000331113.4	+	1	1075	c.110G>A	c.(109-111)aGg>aAg	p.R37K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	37					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAGAGGAAAAGGACCCAAGAT	0.622000													125	248					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641460	99641460	+	Silent	SNP	A	A	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:99641460A>C	ENST00000345514.2	-	3	1766	c.1500T>G	c.(1498-1500)ggT>ggG	p.G500G	BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	571						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgggcACCCCACCACCGCCGT	0.706000			T	TLX3	T-ALL								6	4					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28138698	28138698	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:28138698G>A	ENST00000373943.4	+	6	620	c.495G>A	c.(493-495)caG>caA	p.Q165Q		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	165					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGATGCAGAGCCAGGAGG	0.493000													3	5					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33646584	33646584	+	Missense_Mutation	SNP	G	G	C	rs139994078		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33646584G>C	ENST00000374316.5	+	31	5000	c.3940G>C	c.(3940-3942)Gtc>Ctc	p.V1314L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1314L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1314					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGGCAAGTACGTCAAGAAGTG	0.627000													15	24					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38056446	38056446	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:38056446C>G	ENST00000373062.3	-	4	343	c.244_splice	c.e4-1	p.G82_splice		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	82					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACGTGTGTTTCCTGTTTTACA	0.363000													3	51					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078869	57078869	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:57078869G>A	ENST00000316981.3	-	5	1915	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	PLAG1_ENST00000429357.2_Missense_Mutation_p.S479L|PLAG1_ENST00000423799.2_Missense_Mutation_p.S397L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	479	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAAGCTGCTGACAGTGAGTG	0.478000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								69	122					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071403	197071403	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:197071403C>T	ENST00000367409.4	-	18	7234	c.6978G>A	c.(6976-6978)atG>atA	p.M2326I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2326	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTCCTTATCATCCATCTTC	0.393000													37	55					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53263450	53263450	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53263450C>T	ENST00000462138.1	-	9	1198	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	TKT_ENST00000423525.2_Silent_p.V370V|TKT_ENST00000296289.6_Silent_p.V323V|TKT_ENST00000423516.1_Silent_p.V378V|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	370					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCGCGATGCTCACCTGGGGGC	0.612000													13	4					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54965245	54965245	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:54965245C>T	ENST00000394636.4	+	1	472	c.135C>T	c.(133-135)ttC>ttT	p.F45F	IRX5_ENST00000320990.5_Silent_p.F45F|IRX5_ENST00000560154.1_Silent_p.F45F			P78411	IRX5_HUMAN	iroquois homeobox 5	45					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCTCCGCGTTCTCGCCCTACG	0.736000													13	42					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205801748	205801748	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:205801748C>T	ENST00000367136.4	-	11	1307	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	421						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)			TATTGACTTCCGGGAAGACGG	0.572000													31	64					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688601	60688601	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:60688601G>A	ENST00000335712.6	-	4	1673	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	BCL11A_ENST00000358510.4_Silent_p.N448N|BCL11A_ENST00000356842.4_Silent_p.N482N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.N151N|BCL11A_ENST00000538214.1_Silent_p.N448N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	482	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcgtccccgttctccGGGA	0.632000			T	IGH@	B-CLL								7	32					0	0	1	0	0
LSM3	27258	broad.mit.edu	37	3	14223081	14223081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:14223081G>T	ENST00000306024.3	+	2	546	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	15					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						cAACACTGTAGAGGAGCCCCT	0.408000													10	193					3.86212e-05	3.90997e-05	1	1	0
ACTL7A	10881	broad.mit.edu	37	9	111625061	111625061	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111625061C>G	ENST00000333999.3	+	1	459	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	153						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGAATATCTCTTCCGACAAG	0.507000													6	77					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160360	2160360	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2160360G>A	ENST00000262304.4	-	15	5016	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F	PKD1_ENST00000423118.1_Missense_Mutation_p.S1603F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1603	PKD 11.				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						GGTGCCCACGGAGCGGAAGGT	0.612000													10	113					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647355	32647355	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:32647355G>A	ENST00000394620.1	+	2	610	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	48					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCAGAGGCTGGAGAGCTACA	0.428000													4	57					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851877	179851877	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:179851877G>A	ENST00000435319.3	+	1	431	c.240G>A	c.(238-240)ccG>ccA	p.P80P	TOR1AIP1_ENST00000271583.3_Silent_p.P80P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	80						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAAGGTCCCCGGTGGGAAAAC	0.627000													49	62					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044417	5044417	+	Translation_Start_Site	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:5044417G>A	ENST00000544510.1	+	0	289				JAK2_ENST00000539801.1_Missense_Mutation_p.R122H|JAK2_ENST00000381652.3_Missense_Mutation_p.R122H			O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TACTTTCCTCGTTGGTATTGC	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				23	51					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34809153	34809153	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:34809153C>G	ENST00000290219.6	+	7	1546	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	IFNGR2_ENST00000405436.1_Missense_Mutation_p.Q221E|IFNGR2_ENST00000381995.1_Missense_Mutation_p.Q319E	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	300					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AGACCCAACTCAGCCCATCTT	0.403000													17	50					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045958	42045958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:42045958G>C	ENST00000372584.1	-	3	5525	c.4511C>G	c.(4510-4512)tCa>tGa	p.S1504*	HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.S1504*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1504					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S1504L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGATGGATCTGAGGACAGGCT	0.562000													4	77					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136643922	136643922	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:136643922C>G	ENST00000371851.1	-	20	2147	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q	VAV2_ENST00000371850.3_Missense_Mutation_p.E618Q|VAV2_ENST00000406606.3_Missense_Mutation_p.E608Q			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	618	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCAGCAGCTCAAGCACGTCG	0.672000													30	30					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612823	31612823	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:31612823C>T	ENST00000404765.2	-	10	1558	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BAG6_ENST00000362049.6_Silent_p.P423P|BAG6_ENST00000375964.6_Silent_p.P429P|BAG6_ENST00000439687.2_Silent_p.P423P|BAG6_ENST00000375976.4_Silent_p.P423P|BAG6_ENST00000211379.5_Silent_p.P423P			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	429	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGGACCTGGCGGGGGAGCCC	0.632000													69	101					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96081712	96081712	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96081712G>A	ENST00000260766.3	+	30	7031	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1825K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1825K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2133K|NOC3L_ENST00000543788.1_Intron	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2133					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGAGCTCAGAGGAGGAGAG	0.408000													26	41					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61892949	61892949	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:61892949C>T	ENST00000578681.1	+	17	2530	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	DDX42_ENST00000359353.5_Silent_p.F524F|DDX42_ENST00000457800.2_Silent_p.F643F|DDX42_ENST00000389924.2_Silent_p.F643F|DDX42_ENST00000583590.1_Silent_p.F643F	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	643					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AATCTCGATTCAAAGGAGGGA	0.483000													53	123					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451488	179451488	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451488C>G	ENST00000589042.1	-	308	64364	c.64140G>C	c.(64138-64140)aaG>aaC	p.K21380N	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K12507N|TTN_ENST00000359218.5_Missense_Mutation_p.K12440N|TTN_ENST00000342992.6_Missense_Mutation_p.K18812N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K19739N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12315N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19739	Ig-like 113.						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)			TGGCACTGTTCTTGGTCATTT	0.448000													42	106					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80182559	80182559	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:80182559C>T	ENST00000450142.2	-	21	2937	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E891K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E804K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E891K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E835K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	891						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						GAACTGGTTTCATATCTTCAA	0.343000													5	15					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29811305	29811305	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29811305G>A	ENST00000561482.1	+	8	1649	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E338K|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E338K|KIF22_ENST00000160827.4_Missense_Mutation_p.E406K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	406					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCGAGGCCCTGAGGAAGAGGA	0.582000													7	90					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45820115	45820115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:45820115G>A	ENST00000177694.1	+	2	842	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	211					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAAAGGCCGAGGGCAGCAT	0.667000													7	6					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814346	2814346	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814346G>A	ENST00000301740.8	+	11	4366	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1273	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCATCTCCTGAAGTAGAAGA	0.463000													11	233					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201678	24201678	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:24201678G>A	ENST00000536471.1	-	3	688	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	CNR2_ENST00000374472.4_Silent_p.L144L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	144					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CGGGTGAGCAGAGCTTTGTAG	0.592000													12	151					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282038	52282038	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52282038G>A	ENST00000301190.6	+	1	295	c.68G>A	c.(67-69)gGa>gAa	p.G23E	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAGGCATTCGGAGACCCAGTG	0.572000													59	113					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010101	24010101	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:24010101C>G	ENST00000496398.1	+	4	561	c.138C>G	c.(136-138)atC>atG	p.I46M	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.I46M																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GTGATGGCATCTATATCATAA	0.448000													8	19					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40571183	40571183	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:40571183G>C	ENST00000342449.3	-	40	5237	c.5159C>G	c.(5158-5160)tCa>tGa	p.S1720*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1720*|BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1720*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCTGACTCTGAGTCTCTGTT	0.398000													38	49					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33510682	33510682	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:33510682G>A	ENST00000265371.4	-	9	1772	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	NRP1_ENST00000395995.1_Missense_Mutation_p.S416F|NRP1_ENST00000374816.3_Missense_Mutation_p.S416F|NRP1_ENST00000374821.5_Missense_Mutation_p.S416F|NRP1_ENST00000374822.4_Missense_Mutation_p.S416F|NRP1_ENST00000374823.5_Missense_Mutation_p.S416F|NRP1_ENST00000374867.2_Missense_Mutation_p.S416F			O14786	NRP1_HUMAN	neuropilin 1	416	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAATCTCATAGATATGCCAGT	0.418000													33	68					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419832	56419832	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:56419832A>T	ENST00000407595.2	+	2	999	c.497A>T	c.(496-498)aAg>aTg	p.K166M	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	166										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGGAGCTCAAGGAGCTCTGT	0.587000													36	69					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482389	56482389	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:56482389G>C	ENST00000267101.3	+	8	1377	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D254H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	313					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGGAAGTAGATAAAAATGG	0.483000													81	195					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183681353	183681353	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183681353C>T	ENST00000334444.6	-	15	2295	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	ABCC5_ENST00000265586.6_Silent_p.L685L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	685	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCACCGCTCAGGTTGGCTC	0.597000													86	75					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49104139	49104139	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104139C>G	ENST00000376227.3	+	9	1172	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	334										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AACAGGAGCTCGAGTCCCTTC	0.642000													9	1					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184658	185184658	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185184658G>A	ENST00000265026.3	+	10	1884	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R373Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R517Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R310Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R373Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	517			R -> G (in dbSNP:rs56408536).		activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTACAAACGACACCCTGTT	0.488000													6	161					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105173357	105173357	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105173357C>G	ENST00000392634.4	+	7	1066	c.954C>G	c.(952-954)ctC>ctG	p.L318L	INF2_ENST00000330634.7_Silent_p.L318L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	318	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGAGAGCCTCGTGAACCGGG	0.711000													7	9					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47814401	47814401	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47814401G>T	ENST00000378460.2	-	28	3433	c.3387C>A	c.(3385-3387)ctC>ctA	p.L1129L	NUP160_ENST00000528071.1_Silent_p.L1015L|NUP160_ENST00000530326.1_Silent_p.L1015L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1129					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTAAACAATTGAGAGCAGCCA	0.468000													75	108					4.66136e-34	4.92847e-34	1	1	0
STX2	2054	broad.mit.edu	37	12	131285791	131285791	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:131285791G>A	ENST00000261653.6	-	8	748	c.582C>T	c.(580-582)atC>atT	p.I194I	STX2_ENST00000392373.2_Silent_p.I194I	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	194	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GACGTGACTCGATTTCATTGA	0.368000													19	51					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346549	92346549	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:92346549C>A	ENST00000276609.3	+	6	908	c.669C>A	c.(667-669)atC>atA	p.I223I	SLC26A7_ENST00000523719.1_Silent_p.I223I|SLC26A7_ENST00000309536.2_Silent_p.I223I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	223						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGAAAACATCAAGTCTGTGC	0.338000													23	30					3.28513e-13	3.38575e-13	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	65					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353000													4	78					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789699	80789699	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:80789699G>C	ENST00000269394.3	-	2	1465	c.632C>G	c.(631-633)tCa>tGa	p.S211*	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	211						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAAAGGTGAGCCGGCTTT	0.567000													74	23					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64437226	64437226	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:64437226G>A	ENST00000355086.3	+	6	1196		c.e6-1		SRGAP1_ENST00000543397.1_Splice_Site|SRGAP1_ENST00000357825.3_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1						axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCATTCCAGAGACAAGCAA	0.338000													22	23					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													15	87					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768140	88768140	+	RNA	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768140G>C	ENST00000444431.1	+	0	2740				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACGAAGAAAAGAAATGGAGGT	0.463000													49	76					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152195636	152195636	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:152195636C>T	ENST00000368801.2	-	2	169	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	32	EF-hand 1.|S-100-like.				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)			TCTTTCAGCTCTGCCTTGTTC	0.413000													8	90					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926978	92926978	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92926978G>C	ENST00000373079.3	-	1	1589	c.1326C>G	c.(1324-1326)ttC>ttG	p.F442L	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	442					nucleosome assembly	chromatin assembly complex		p.F442F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GAGGACTAAAGAAGTTGAAGA	0.423000													12	0					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868154	7868154	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:7868154C>T	ENST00000264669.5	-	2	179	c.43G>A	c.(43-45)Gat>Aat	p.D15N	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	15					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCTGAAAATCAGATAAACGA	0.348000													32	41					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63951271	63951271	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:63951271C>T	ENST00000260118.6	-	1	459	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	19					glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GCTCGAGGCTCGCCGCCCCGC	0.701000													18	9					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871805	149871805	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:149871805G>A	ENST00000369153.2	+	3	857	c.193G>A	c.(193-195)Gag>Aag	p.E65K	BOLA1_ENST00000369150.1_Missense_Mutation_p.E65K|BOLA1_ENST00000369152.5_Missense_Mutation_p.E65K|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	65						extracellular region	protein binding	p.E65K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTGGCAGTGAGACTCACTT	0.677000													7	56					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219431	155219431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155219431C>G	ENST00000357232.3	-	18	4669	c.4670G>C	c.(4669-4671)tGt>tCt	p.C1557S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1557	Cadherin 13.				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)		CTGGATGCTACAGTCTCTGGC	0.438000													38	91					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026815	65026815	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:65026815T>C	ENST00000262138.3	+	4	681	c.679T>C	c.(679-681)Tct>Cct	p.S227P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	227					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGCGTCTTCCTCTTCTCCTTA	0.557000													104	87					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180062752	180062752	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180062752G>C	ENST00000367607.3	+	34	7930	c.7512G>C	c.(7510-7512)ttG>ttC	p.L2504F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATAGGGTGTTGATTGGAAATG	0.428000													27	40					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38416864	38416864	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416864G>A	ENST00000323571.4	+	3	381	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WIPF2_ENST00000536600.1_Silent_p.G47G|WIPF2_ENST00000585043.1_Silent_p.G47G|WIPF2_ENST00000394103.3_Silent_p.G47G|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Silent_p.G47G	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTTGCAAAGGGACCAAGCTGA	0.517000										HNSCC(43;0.11)			35	92					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33370136	33370136	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:33370136G>C	ENST00000305768.4	-	19	2372	c.2284C>G	c.(2284-2286)Cag>Gag	p.Q762E		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	762						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTCTGCCTGAGAGACGCCA	0.597000													85	116					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022449	96022449	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96022449G>T	ENST00000260766.3	+	14	4647	c.4013G>T	c.(4012-4014)gGa>gTa	p.G1338V	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1030V|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1030V|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1338V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1338					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTGCCAAGGAGAACACTGC	0.458000													14	124					0.00185496	0.00186802	1	1	0
CLK2	1196	broad.mit.edu	37	1	155239300	155239300	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239300C>T	ENST00000368361.4	-	3	693	c.378G>A	c.(376-378)cgG>cgA	p.R126R	CLK2_ENST00000361168.5_Silent_p.R126R|CLK2_ENST00000536801.1_Silent_p.R126R|CLK2_ENST00000355560.4_Silent_p.R125R			P49760	CLK2_HUMAN	CDC-like kinase 2	126						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			GGCTAAATGTCCGGCTGCGCC	0.597000								Other conserved DNA damage response genes					12	127					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42270107	42270107	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:42270107C>T	ENST00000199764.6	+	5	1193	c.975C>T	c.(973-975)ctC>ctT	p.L325L	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	325					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTCCTGTCCTCTCAGCTGTGG	0.517000													7	91					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12121228	12121228	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:12121228G>A	ENST00000566228.1	+	4	243	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGGCTTGAAGAGGAGTCGAG	0.562000													90	151					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27335406	27335406	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:27335406C>G	ENST00000376087.4	-	18	2026	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E178Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E637Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	620						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTCCGTTTTTCTTTTTCAGTG	0.388000													5	48					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373366	62373366	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62373366C>G	ENST00000394773.2	-	14	2050	c.1743G>C	c.(1741-1743)ctG>ctC	p.L581L	EML3_ENST00000531557.1_Silent_p.L364L|EML3_ENST00000494176.2_Silent_p.L553L|EML3_ENST00000529309.1_Silent_p.L581L|EML3_ENST00000278845.4_Silent_p.L582L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	581						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTCCCCTCAGCAATGCAT	0.612000													39	120					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25967008	25967008	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:25967008C>T	ENST00000435504.4	-	13	2491	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E	ASXL2_ENST00000272341.4_Missense_Mutation_p.G473E|ASXL2_ENST00000404843.1_Missense_Mutation_p.G473E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G705E			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	733	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCAGTTCCTGCCAGTTC	0.592000													21	185					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276465	150276465	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276465C>T	ENST00000446148.2	-	7	811	c.384G>A	c.(382-384)ctG>ctA	p.L128L	ZNF300_ENST00000394226.2_Silent_p.L112L|ZNF300_ENST00000418587.2_Silent_p.L76L|ZNF300_ENST00000274599.5_Silent_p.L112L|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACTCCTTTCAGTATCTTAT	0.388000													15	34					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123810124	123810124	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123810124G>C	ENST00000420886.2	-	14	1897	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C	SBNO1_ENST00000267176.4_Missense_Mutation_p.S632C|SBNO1_ENST00000602750.1_Missense_Mutation_p.S632C|SBNO1_ENST00000602398.1_Missense_Mutation_p.S633C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	633							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)		TTCTCCTGTAGACTGCAGACC	0.333000													12	243					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40980235	40980235	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:40980235G>C	ENST00000372703.1	+	2	1093	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	EXO5_ENST00000296380.4_Missense_Mutation_p.E7Q|EXO5_ENST00000471429.1_3'UTR|EXO5_ENST00000358527.2_Missense_Mutation_p.E7Q|RP11-656D10.5_ENST00000453437.1_RNA					exonuclease 5																		GACAAGAGAAGAGGAGACAGT	0.458000													11	161					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833166	44833166	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:44833166C>T	ENST00000354340.4	-	4	1195	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	ZNF112_ENST00000536500.1_Missense_Mutation_p.E405K|ZNF112_ENST00000337401.4_Missense_Mutation_p.E388K	NM_013380.3	NP_037512.3			zinc finger protein 112																		TCCTCATATTCATGGGGTTCA	0.368000													13	29					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474686	120474686	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:120474686G>A	ENST00000355622.6	+	3	381	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E54K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	94					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAGACAATTGAAGATGGGGC	0.388000													19	31					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820080	159820080	+	RNA	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:159820080G>T	ENST00000497452.1	-	0	517																											GCCTGAAGATGAAGGCCATAC	0.433000													81	65					3.33186e-49	3.53585e-49	1	1	0
IFRD2	7866	broad.mit.edu	37	3	50326727	50326727	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:50326727C>T	ENST00000436390.1	-	11	1341	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K|IFRD2_ENST00000429673.2_Missense_Mutation_p.E346K|IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	346							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAATGGTTTCACCGGCAGCG	0.607000													6	4					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3820792G>A	ENST00000262367.5	-	14	3468	c.2659C>T	c.(2659-2661)Cag>Tag	p.Q887*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	887					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q887*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGATGGCTGAGTGGGAGCT	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	115					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465865	24465865	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465865C>G	ENST00000382137.3	-	3	633	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.E189Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	189	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTCCCTTTCTCTCCTCGATCT	0.547000													5	48					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263456	33263456	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33263456G>C	ENST00000497454.1	-	7	1344	c.849C>G	c.(847-849)ctC>ctG	p.L283L	RGL2_ENST00000444031.2_Silent_p.L201L|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	283	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAGATGGGCAGAGGTGAGAAT	0.572000													26	66					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922984	150922984	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150922984G>A	ENST00000261800.5	-	9	7716	c.7704C>T	c.(7702-7704)ttC>ttT	p.F2568F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2568	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCGTGCAGAAGGCTACTC	0.463000													89	64					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720088	28720088	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28720088C>G	ENST00000257197.3	-	10	1698	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	DSC1_ENST00000257198.5_Missense_Mutation_p.Q479H|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	479	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCTTGACTCTGAATAACTT	0.463000													39	74					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22332233	22332233	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:22332233C>G	ENST00000290122.3	+	4	325	c.306C>G	c.(304-306)atC>atG	p.I102M	CELA3A_ENST00000374663.1_Missense_Mutation_p.I102M	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGATCCCCATCAACTCTGAGG	0.592000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	107					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687552	171687552	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:171687552G>C	ENST00000358196.3	+	5	947	c.397G>C	c.(397-399)Gat>Cat	p.D133H	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.D133H|GAD1_ENST00000344257.5_Missense_Mutation_p.D133H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	133					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAGACATTTGATCGCTCCAC	0.537000													46	57					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29808239	29808239	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29808239G>C	ENST00000160827.4	+	2	136	c.96G>C	c.(94-96)aaG>aaC	p.K32N	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000569382.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	32					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGCTAAGCAAGATTGGAGCTA	0.567000													9	170					0	0	1	0	0
TRMU	55687	broad.mit.edu	37	22	46746283	46746283	+	Silent	SNP	C	C	T	rs149815191		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46746283C>T	ENST00000290846.4	+	5	914	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TRMU_ENST00000381019.3_Silent_p.L192L|TRMU_ENST00000424260.2_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CATCTTCCCTCTGGGGGGATT	0.488000													98	103					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3879431	3879431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879431C>G	ENST00000324333.10	-	7	2021	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.E765Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTTACCTCTCAGCTCCTGCG	0.517000													47	58					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10013999	10013999	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:10013999C>G	ENST00000256190.8	-	12	1396	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	420	dDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGAGGACCTCTTTCTGAAAC	0.368000													7	32					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356742	149356742	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356742G>A	ENST00000355292.3	-	2	1633	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	NR3C2_ENST00000358102.3_Missense_Mutation_p.S424L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S424L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S424L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S424L|NR3C2_ENST00000342437.4_Missense_Mutation_p.S424L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	424	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TATTGGTACTGAGAATGAAGA	0.388000													8	97					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83350589	83350589	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:83350589G>T	ENST00000295470.5	-	1	430	c.255C>A	c.(253-255)ctC>ctA	p.L85L	HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Silent_p.L85L|HNRNPDL_ENST00000349655.4_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		GGCGGCGGAAGAGATCCGGGC	0.731000													22	21					2.37509e-13	2.45226e-13	1	1	0
ZNF197	10168	broad.mit.edu	37	3	44684748	44684748	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:44684748G>A	ENST00000396058.1	+	5	2293	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	ZNF197_ENST00000344387.4_Missense_Mutation_p.R709Q|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	709					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TATGAATGTCGAGAGTGTGGG	0.408000													43	75					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073425	31073425	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:31073425G>A	ENST00000538906.1	-	3	1608	c.824C>T	c.(823-825)tCg>tTg	p.S275L	ZNF668_ENST00000539836.3_Missense_Mutation_p.S298L|ZNF668_ENST00000426488.2_Missense_Mutation_p.S298L|ZNF668_ENST00000535577.1_Missense_Mutation_p.S275L|ZNF668_ENST00000394983.2_Missense_Mutation_p.S275L|ZNF668_ENST00000417110.2_Missense_Mutation_p.E205K|ZNF668_ENST00000300849.4_Missense_Mutation_p.S275L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTTCTCCCCCGAGTGCGTGCG	0.687000													26	69					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228540	3228540	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228540C>T	ENST00000217939.6	-	7	7858	c.7704G>A	c.(7702-7704)ggG>ggA	p.G2568G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2568	Ig-like C2-type 10.					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)				GTGTCGGGGTCCCCGCGGCAG	0.627000													16	2					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47199930	47199930	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47199930C>A	ENST00000539589.1	-	10	1488	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	PACSIN3_ENST00000298838.6_Silent_p.L382L	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	382	SH3.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCGGAAGCTCAGCTCATCAG	0.582000													42	87					9.84934e-19	1.03373e-18	1	1	0
USP34	9736	broad.mit.edu	37	2	61632948	61632948	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61632948C>G	ENST00000398571.2	-	3	523	c.447G>C	c.(445-447)tgG>tgC	p.W149C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	149					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATCTGTACTCCATAAACTAA	0.318000													17	34					0	0	1	0	0
GRHPR	9380	broad.mit.edu	37	9	37429760	37429760	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:37429760C>T	ENST00000607784.1	+	6	530	c.525C>T	c.(523-525)ttC>ttT	p.F175F	GRHPR_ENST00000318158.6_Silent_p.F175F			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	175					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGAAACCATTCGGTGTCCAGA	0.557000													60	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065168	9065168	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9065168G>C	ENST00000397910.4	-	3	22481	c.22278C>G	c.(22276-22278)ctC>ctG	p.L7426L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7428	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						GGCCTGGTGTGAGAAGTGAAG	0.488000													6	71					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24572864	24572864	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:24572864C>T	ENST00000535378.1	-	12	2412	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	KIAA0319_ENST00000378214.3_Silent_p.L599L|KIAA0319_ENST00000430948.2_Silent_p.L554L|KIAA0319_ENST00000537886.1_Silent_p.L599L|KIAA0319_ENST00000543707.1_Silent_p.L599L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	599	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGTCACCTTCAGCTGAAATG	0.403000													20	57					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125042832	125042832	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125042832C>G	ENST00000344641.3	+	3	606	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	MRRF_ENST00000373730.3_Missense_Mutation_p.L99V|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373728.1_Missense_Mutation_p.L99V|MRRF_ENST00000394315.3_Missense_Mutation_p.L99V|MRRF_ENST00000373727.1_Missense_Mutation_p.L99V|MRRF_ENST00000373723.4_Missense_Mutation_p.L99V|MRRF_ENST00000546115.1_Missense_Mutation_p.L99V|MRRF_ENST00000373729.1_Missense_Mutation_p.L55V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	99					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GATAGAAGCTCTCAAGGATAA	0.408000													7	69					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548694	47548694	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:47548694G>C	ENST00000273859.3	+	10	1719	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	ATP10D_ENST00000504445.1_Missense_Mutation_p.D469H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	484					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGATTTTATAGACACAGTCAG	0.473000													63	69					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567085	84567085	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:84567085G>A	ENST00000369689.1	+	4	515	c.364G>A	c.(364-366)Gag>Aag	p.E122K	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.E64K	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	122					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AGATGAAATTGAGGATCTGAC	0.289000													21	46					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7582950	7582950	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7582950A>G	ENST00000379802.3	+	24	5796	c.5455A>G	c.(5455-5457)Atc>Gtc	p.I1819V	DSP_ENST00000418664.2_Missense_Mutation_p.I1220V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1819	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTGGTGAAAATCAAAGTCCT	0.463000													98	138					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30733072	30733072	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:30733072C>T	ENST00000295754.5	+	7	2067	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S587F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	562					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGACGGCTCCCTAAACACT	0.587000													66	73					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727793	7727793	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7727793G>C	ENST00000283147.6	+	1	764	c.605G>C	c.(604-606)aGc>aCc	p.S202T		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	202					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCACTGACCAGCGCGCAGGAC	0.662000													21	22					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602712	13602712	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:13602712C>T	ENST00000040738.5	-	10	5947	c.5812G>A	c.(5812-5814)Gag>Aag	p.E1938K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1938							DNA binding										CTTCCTTTCTCTGTGCCACTC	0.463000													24	56					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420516	105420516	+	Silent	SNP	G	G	A	rs143634333		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:105420516G>A	ENST00000258494.9	-	22	2663	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	841	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.I841I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACACTCCATCGATGTCCCTGT	0.368000													44	154					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959496	61959496	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:61959496G>C	ENST00000422202.1	+	32	3719	c.3652_splice	c.e32+1	p.Q1217_splice	COL20A1_ENST00000358894.6_Intron|COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Splice_Site_p.Q1217_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1204					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)					CTGCCATTCAGAGTGAGTGAG	0.637000													15	27					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844321	123844321	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:123844321C>T	ENST00000369005.1	+	4	2646	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A769V|TACC2_ENST00000334433.3_Missense_Mutation_p.A769V|TACC2_ENST00000453444.2_Missense_Mutation_p.A769V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A769V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	769						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)				GCGTGTGATGCGTCGAGACAG	0.607000													63	133					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17843204	17843204	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:17843204C>G	ENST00000409389.1	-	21	2270		c.e21-1		SNX13_ENST00000428135.3_Splice_Site|SNX13_ENST00000496855.1_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGTGTCCATCTAAAGGGAAA	0.363000													10	9					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48956296	48956296	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48956296C>G	ENST00000294954.7	-	3	325	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	LHCGR_ENST00000403273.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.E102Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E102Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	102					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCTTACATTTCAGACAAATTG	0.438000													12	115					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1253704	1253704	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1253704C>T	ENST00000447027.1	+	16	1935	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	MUC5B_ENST00000529681.1_Missense_Mutation_p.S623L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	623	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTGGTGCTCGCGCCTGACC	0.667000													9	15					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17266458	17266458	+	Missense_Mutation	SNP	G	G	A	rs145642834	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:17266458G>A	ENST00000375541.5	+	13	1747	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	560					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCGACAGCGAGAGCGAGCG	0.697000													36	110					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490173	114490173	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490173G>C	ENST00000394779.3	-	9	1509	c.1265C>G	c.(1264-1266)gCa>gGa	p.A422G	C9orf84_ENST00000374287.3_Missense_Mutation_p.A461G|C9orf84_ENST00000394777.4_Missense_Mutation_p.A422G|C9orf84_ENST00000318737.4_Missense_Mutation_p.A461G	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	461										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTTCTTTTGCTGCTCCTTT	0.358000													19	42					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143387	41143387	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41143387C>G	ENST00000361677.1	+	5	1508	c.1496C>G	c.(1495-1497)tCc>tGc	p.S499C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	499	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCTCCCAGTCCTTCGCCCTT	0.572000													57	87					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149484608	149484608	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149484608C>T	ENST00000378016.2	+	0	3531							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)			CCTGGCGCCTCAGCCCCCTCT	0.662000													4	21					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115216390	115216390	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:115216390C>G	ENST00000398805.3	+	9	1190	c.963C>G	c.(961-963)ctC>ctG	p.L321L	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Silent_p.L201L|HSDL2_ENST00000539114.1_Silent_p.L116L|HSDL2_ENST00000398803.1_Silent_p.L248L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.					peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGGACTCTCTCAGTGATGATG	0.408000													44	76					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12041914	12041914	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041914C>G	ENST00000356352.2	-	6	2222	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	UPF2_ENST00000357604.5_Silent_p.L583L|UPF2_ENST00000397053.2_Silent_p.L583L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	583	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTTGTCTATCAGATCTCGGT	0.418000													25	45					0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370271	187370271	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:187370271G>C	ENST00000337859.6	+	7	1038	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	ZC3H15_ENST00000544130.1_Missense_Mutation_p.E66Q	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	271						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGATAAACTTGAACAAGATAT	0.388000													35	44					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74301245	74301245	+	RNA	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:74301245C>A	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGCACGGATCTCAGGAAGGA	0.468000													139	286					7.08505e-72	7.53281e-72	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62744281	62744281	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62744281C>T	ENST00000377871.3	-	10	1943	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	SLC22A6_ENST00000421062.2_Silent_p.E515E|SLC22A6_ENST00000458333.2_Silent_p.E502E|SLC22A6_ENST00000360421.4_Silent_p.E546E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	559					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCATTCTTCTCTTGTGCTG	0.557000													4	10					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110168	2110168	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:2110168C>T	ENST00000355272.6	-	28	3437	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000345016.5_Silent_p.Q1015Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGAGCTTCTGCGCCATGA	0.642000													29	76					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57204723	57204723	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:57204723A>G	ENST00000205214.6	-	15	3322	c.3142T>C	c.(3142-3144)Tgg>Cgg	p.W1048R	AASDH_ENST00000513376.1_Missense_Mutation_p.W948R|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.W563R	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1048					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCCAAGATCCACACTTTCCCA	0.433000													34	46					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95485048	95485048	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95485048C>T	ENST00000356884.6	-	3	563	c.496G>A	c.(496-498)Gac>Aac	p.D166N	BICD2_ENST00000375512.3_Missense_Mutation_p.D166N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	166					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTTGATGTCATCCCGCAGG	0.577000													20	47					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490053	114490053	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490053G>A	ENST00000394779.3	-	9	1629	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	C9orf84_ENST00000374287.3_Missense_Mutation_p.S501L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S462L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S501L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	501										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTAATTATTGAAGAGGAAGG	0.328000													39	69					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88533332	88533332	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:88533332G>C	ENST00000552810.1	-	4	533	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	CEP290_ENST00000309041.7_Missense_Mutation_p.Q64E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	64					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCCACTTCTTGAGCTTTCATC	0.299000													9	21					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129546877	129546877	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:129546877C>T	ENST00000393238.3	-	3	685	c.345G>A	c.(343-345)atG>atA	p.M115I	TMCC1_ENST00000426664.2_Start_Codon_SNP_p.M1I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	115						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCCCTCTCTTCATCTTGGGTG	0.547000													86	82					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116109	175116109	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:175116109C>G	ENST00000239462.4	+	19	3915	c.3802C>G	c.(3802-3804)Cct>Gct	p.P1268A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1268	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)		ATTCTCCATTCCTTACGTGGA	0.517000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	64					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12042009	12042009	+	Splice_Site	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12042009C>T	ENST00000356352.2	-	6	2128		c.e6-1		UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTTCTTGTTCTAATGTAAAA	0.333000													26	32					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125495	30125495	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:30125495C>T	ENST00000216144.3	+	5	926	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	195						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CCTTCGCCATCGCCTTCATCA	0.637000													102	99					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304050	151304050	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151304050C>G	ENST00000370323.4	-	4	359	c.43G>C	c.(43-45)Gat>Cat	p.D15H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D15H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	15										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATTGAAGATCTTCTTCAGGC	0.582000													69	38					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555618	182555618	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:182555618C>T	ENST00000367559.3	-	2	577	c.324G>A	c.(322-324)ctG>ctA	p.L108L	RNASEL_ENST00000539397.1_Silent_p.L108L|RNASEL_ENST00000444138.1_Silent_p.L108L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	108					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGAAAAGTTTCAGCAGCTTCA	0.493000													20	29					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25191669	25191669	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:25191669G>C	ENST00000276440.7	+	21	2193	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	717						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCTGTACTTGAAACCTACAT	0.378000													7	106					0	0	1	0	0
PSPN	5623	broad.mit.edu	37	19	6375832	6375832	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:6375832G>A	ENST00000597721.1	-	1	3237	c.29C>T	c.(28-30)tCc>tTc	p.S10F	PSPN_ENST00000245810.1_Missense_Mutation_p.S10F			O60542	PSPN_HUMAN	persephin	10					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GAGCAGCAGGGAGCCCAGCAG	0.642000													29	45					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930409	68930409	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:68930409C>T	ENST00000356291.2	-	8	1068	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	337	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCACCATCATCTACAATGGAT	0.368000													30	41					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940936	185940936	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:185940936G>C	ENST00000338875.4	+	3	423	c.423G>C	c.(421-423)gaG>gaC	p.E141D	HELT_ENST00000515777.1_Missense_Mutation_p.E56D|HELT_ENST00000505610.1_Missense_Mutation_p.E56D	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	141	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGATCCTCGAGATGACCGTTC	0.642000													3	53					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132270026	132270026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:132270026G>C	ENST00000265343.5	-	3	1110	c.731C>G	c.(730-732)tCa>tGa	p.S244*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.S244*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	244	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGGACTTTGACATCAATGA	0.507000													49	22					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043403	1043403	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1043403G>A	ENST00000263094.6	+	9	1092	c.861G>A	c.(859-861)ctG>ctA	p.L287L	ABCA7_ENST00000433129.1_Silent_p.L287L|ABCA7_ENST00000435683.2_Silent_p.L149L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	287					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L287L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGAGACGCCTGAAGCCTCTGA	0.662000													51	109					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56174863	56174863	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:56174863C>G	ENST00000399503.3	+	11	2022	c.2022C>G	c.(2020-2022)atC>atG	p.I674M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	674					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CGGAAAGAATCAAACTTCAGA	0.393000													13	76					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	142715	142715	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:142715G>A	ENST00000399953.3	-	10	1442	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.P168L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	347							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTCGGCCAGCGGGGAGTACCT	0.587000													20	19					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338475	72338475	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:72338475G>C	ENST00000356056.5	-	2	902	c.430C>G	c.(430-432)Caa>Gaa	p.Q144E	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q144E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	144					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTTTCTGTTGAGGCTGTGGA	0.393000													26	84					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984266	5984266	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:5984266G>A	ENST00000574946.1	+	2	678	c.288G>A	c.(286-288)cgG>cgA	p.R96R	WSCD1_ENST00000574232.1_Silent_p.R96R|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Silent_p.R96R|WSCD1_ENST00000317744.5_Silent_p.R96R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	96						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						cccggccccggcccggccccc	0.711000													8	7					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49070718	49070718	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49070718C>G	ENST00000376265.2	-	30	3703	c.3642G>C	c.(3640-3642)caG>caC	p.Q1214H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1149H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1203H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1214					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)	AGGGAGCAGTCTGCTCATAGT	0.527000													49	18					0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543630	217543630	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217543630C>T	ENST00000233813.4	-	2	1259	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	170					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTGTTCTCGGCTCCCC	0.582000													28	50					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74921637	74921637	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:74921637G>A	ENST00000262144.6	-	23	2493	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	788										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGGAACCAGAAGAGGTAAA	0.478000													16	39					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538841	42538841	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:42538841C>G	ENST00000424775.1	-	0	469				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						AGAAGCGCCTCTGCTCGCGCC	0.697000													47	48					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313632	54313632	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54313632C>T	ENST00000324134.6	-	3	1449	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	NLRP12_ENST00000391772.1_Silent_p.T427T|NLRP12_ENST00000345770.5_Silent_p.T427T|NLRP12_ENST00000351894.4_Silent_p.T427T|NLRP12_ENST00000354278.3_Silent_p.T427T|NLRP12_ENST00000391775.3_Silent_p.T427T|NLRP12_ENST00000535162.1_Silent_p.T427T|NLRP12_ENST00000391773.1_Silent_p.T427T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGTCCTGGACGTCTGTCTCA	0.642000													108	143					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	408518	408518	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:408518G>C	ENST00000352684.2	+	7	1026	c.609G>C	c.(607-609)aaG>aaC	p.K203N	FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000350302.3_Missense_Mutation_p.K270N|FBXO25_ENST00000382824.1_Missense_Mutation_p.K203N|FBXO25_ENST00000276326.5_Missense_Mutation_p.K270N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	270						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGCTGTGGAAGAAGCTTTGTC	0.517000													7	75					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48559474	48559474	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:48559474G>T	ENST00000358350.4	-	34	4725	c.4121C>A	c.(4120-4122)gCa>gAa	p.A1374E	FRYL_ENST00000507711.1_Missense_Mutation_p.A1374E|FRYL_ENST00000503238.1_Missense_Mutation_p.A1374E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A1374E	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1374					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTACCTTTGCTGTCATATA	0.403000													34	76					5.8336e-16	6.078e-16	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98677984	98677984	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:98677984C>G	ENST00000288985.7	+	5	1161	c.856C>G	c.(856-858)Cat>Gat	p.H286D	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.H97D|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	286	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GGATGAAGCTCATAGAATCAA	0.373000													29	51					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:123270074C>T	ENST00000451558.1	+	13	2016	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ASB15_ENST00000434204.1_Missense_Mutation_p.R499C|ASB15_ENST00000451215.1_Missense_Mutation_p.R499C|ASB15_ENST00000275699.3_Missense_Mutation_p.R499C|ASB15_ENST00000540573.1_Missense_Mutation_p.R499C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358000													41	90					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53488623	53488623	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53488623G>A	ENST00000262133.6	+	8	1185	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	RBL2_ENST00000544545.1_Missense_Mutation_p.E134K|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	350					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAATTTAGATGAGCGGATATT	0.423000													19	51					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61633028	61633028	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61633028C>G	ENST00000398571.2	-	3	443	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E123K(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATTTTTTTTCTATTGATTTT	0.343000													27	42					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447412	12447412	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:12447412G>C	ENST00000397026.2	+	7	968	c.585G>C	c.(583-585)gaG>gaC	p.E195D	PPARG_ENST00000397015.2_Missense_Mutation_p.E189D|PPARG_ENST00000309576.6_Missense_Mutation_p.E189D|PPARG_ENST00000397010.2_Missense_Mutation_p.E189D|PPARG_ENST00000397012.2_Missense_Mutation_p.E189D|PPARG_ENST00000539812.1_Missense_Mutation_p.E187D|PPARG_ENST00000287820.6_Missense_Mutation_p.E217D|PPARG_ENST00000397000.1_Missense_Mutation_p.E189D			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	217					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACAGGCCGAGAAGGAGAAGC	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						35	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615417	179615417	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615417C>A	ENST00000360870.5	-	46	11932	c.11710G>T	c.(11710-11712)Gat>Tat	p.D3904Y	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9724							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)			TCTCTCAAATCATCCTTTTTT	0.333000													14	24					7.93312e-07	8.05994e-07	1	1	0
TNXB	7148	broad.mit.edu	37	6	32017905	32017905	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:32017905C>T	ENST00000375244.3	-	27	9510	c.9309G>A	c.(9307-9309)gcG>gcA	p.A3103A	TNXB_ENST00000375247.2_Silent_p.A3101A			P22105	TENX_HUMAN	tenascin XB	3148					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						GCACCCGCACCGCCTTGGGCT	0.637000													33	75					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615282	179615282	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615282C>T	ENST00000360870.5	-	46	12067	c.11845G>A	c.(11845-11847)Gaa>Aaa	p.E3949K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9766							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)			GATTCAATTTCTTGAAGAAAT	0.343000													10	12					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448847	27448847	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:27448847C>T	ENST00000337929.3	+	4	664	c.191C>T	c.(190-192)tCc>tTc	p.S64F	IL21R_ENST00000395754.4_Missense_Mutation_p.S64F|IL21R_ENST00000564089.1_Missense_Mutation_p.S64F|IL21R_ENST00000395755.1_Missense_Mutation_p.S64F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	64					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGCCACCTCCTGCAGCCTC	0.587000			T	BCL6	NHL								42	49					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:4903513C>T	ENST00000380378.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488000													11	105					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23546622	23546622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23546622C>T	ENST00000376979.3	-	2	641	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	115						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGTTCAGCTCTGTGCTTTCT	0.502000													34	113					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62197488	62197488	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:62197488C>T	ENST00000467148.1	-	8	2756	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	HELZ2_ENST00000427522.2_Missense_Mutation_p.R327H	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTTGAGCACGCGGGCGTCGGT	0.701000													8	9					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30856492	30856492	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30856492G>C	ENST00000508312.1	+	2	292	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	DDR1_ENST00000376567.2_5'UTR|DDR1_ENST00000376568.3_5'UTR|DDR1_ENST00000418800.2_5'UTR|DDR1_ENST00000376570.4_5'UTR|DDR1_ENST00000376569.3_5'UTR|DDR1_ENST00000454612.2_5'UTR|DDR1_ENST00000376575.3_5'UTR|DDR1_ENST00000452441.1_5'UTR|DDR1_ENST00000446312.1_5'UTR|DDR1_ENST00000324771.8_5'UTR	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTTAGGCCCGAGGGATCAGG	0.537000													14	29					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084658	53084658	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:53084658C>G	ENST00000276480.7	-	10	1446	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	255						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTCCTTTCTGTTTCAGAA	0.453000													11	111					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46776737	46776737	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46776737C>T	ENST00000262738.3	-	22	7203	c.7204G>A	c.(7204-7206)Gag>Aag	p.E2402K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2402					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)		TCCTCCACCTCCAGCAGGGCG	0.632000													34	131					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732317	133732317	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:133732317G>C	ENST00000248211.6	+	5	707	c.485G>C	c.(484-486)aGa>aCa	p.R162T	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.R162T|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	162				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTCAGGAGAGAGTCTCTGAA	0.413000													20	74					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089213	57089213	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57089213G>C	ENST00000330619.8	+	6	2102	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Q472H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTCTTCATCAGAGAGTTCATA	0.438000													9	122					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52256608	52256608	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:52256608C>G	ENST00000354831.7	-	30	3408	c.3219G>C	c.(3217-3219)aaG>aaC	p.K1073N	NRD1_ENST00000539524.1_Missense_Mutation_p.K941N|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.K1005N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1004					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GGTTCTCAATCTTCTCCTCAA	0.413000													15	16					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24441126	24441126	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:24441126C>G	ENST00000383168.4	-	3	709	c.581G>C	c.(580-582)gGa>gCa	p.G194A	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G172A|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.G172A	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	194					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)					AACAGAAAATCCAATTGCTAA	0.383000													4	96					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465944	1465944	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1465944G>C	ENST00000535453.1	+	14	4357	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	APC2_ENST00000233607.2_Missense_Mutation_p.E882Q|APC2_ENST00000238483.4_Missense_Mutation_p.E608Q|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	882					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGACAGGAGGCGCCACG	0.731000													10	23					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154628	125154628	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125154628G>A	ENST00000362012.2	+	11	1610	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	PTGS1_ENST00000373698.5_Silent_p.G426G|PTGS1_ENST00000223423.4_Silent_p.G498G|PTGS1_ENST00000540753.1_Silent_p.G473G	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	535					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GTCTCCTAGGGAATCCCATCT	0.522000													60	119					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79945534	79945534	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:79945534G>A	ENST00000373275.4	-	32	3876	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1220	Bromo 1.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGGCTCATTGAAAGTCCTGG	0.363000													14	6					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111093078	111093078	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111093078C>G	ENST00000356742.5	-	4	1125	c.372G>C	c.(370-372)ctG>ctC	p.L124L	HVCN1_ENST00000548312.1_Silent_p.L124L|HVCN1_ENST00000439744.2_Silent_p.L104L|HVCN1_ENST00000242607.8_Silent_p.L124L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	124					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGATGATCTTCAGGTCCAGGA	0.517000													26	63					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491454	58491454	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58491454G>A	ENST00000341164.4	-	7	1214	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ZNF606_ENST00000536132.1_Silent_p.V108V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTGCATGAAGACCATCTGCC	0.423000													11	116					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760793	92760793	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:92760793C>T	ENST00000318238.4	-	5	5708	c.4492G>A	c.(4492-4494)Gat>Aat	p.D1498N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1498N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1498N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1498										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)			TGTGCTTTATCAAAGTACTGC	0.458000													39	89					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667473	81667473	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:81667473C>T	ENST00000356860.3	-	11	1296	c.958G>A	c.(958-960)Gac>Aac	p.D320N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D320N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	320	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTCACCGCGTCTTTCAACACT	0.343000													37	45					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193417	132193417	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:132193417G>C	ENST00000359827.3	-	2	998	c.36C>G	c.(34-36)ctC>ctG	p.L12L	PLXNA4_ENST00000321063.4_Silent_p.L12L|PLXNA4_ENST00000423507.2_Silent_p.L12L|PLXNA4_ENST00000378539.5_Silent_p.L12L			Q9HCM2	PLXA4_HUMAN	plexin A4	12						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGTGGGAGAGAAGGCAGG	0.637000													11	7					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117400877	117400877	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:117400877G>T	ENST00000374049.4	+	8	1160	c.723G>T	c.(721-723)gtG>gtT	p.V241V	C9orf91_ENST00000288502.4_Silent_p.V240V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	240						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						AGACTGGGGTGAGCCCTGCAA	0.557000													54	86					3.21867e-24	3.38434e-24	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	51					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253943	10253943	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:10253943C>G	ENST00000418404.3	-	11	1237	c.1074G>C	c.(1072-1074)gtG>gtC	p.V358V	MYH13_ENST00000570743.1_Silent_p.V358V|MYH13_ENST00000252172.4_Silent_p.V358V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	358	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V358V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATAATGCATCACGGCTCCCG	0.512000													12	127					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099155	111099155	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111099155G>A	ENST00000356742.5	-	3	873	c.120C>T	c.(118-120)atC>atT	p.I40I	HVCN1_ENST00000548312.1_Silent_p.I40I|HVCN1_ENST00000439744.2_Silent_p.I20I|HVCN1_ENST00000242607.8_Silent_p.I40I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	40					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTTGTAGTTGATGTTCCAGG	0.592000													19	62					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475057	16475057	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475057C>G	ENST00000358432.5	-	3	793	c.639G>C	c.(637-639)gaG>gaC	p.E213D	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	213	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGGCGATGGTCTCAGGGAAGT	0.652000													9	125					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288300	202288300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:202288300C>T	ENST00000367278.3	+	18	2958	c.2869C>T	c.(2869-2871)Cag>Tag	p.Q957*	LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q818*|LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q905*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	957						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						TGGCGGCTTTCAGCCCTCTGG	0.582000													33	46					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35227665	35227665	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:35227665C>T	ENST00000428726.2	+	11	1412	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000415148.2_Missense_Mutation_p.S387L|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	430	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ACAGCAGCCTCAGCTCATACC	0.453000													28	159					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126342	41126342	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:41126342C>T	ENST00000338469.3	-	4	762	c.659G>A	c.(658-660)tGa>tAa	p.*220*	TREM2_ENST00000373113.3_3'UTR|TREM2_ENST00000373122.4_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCCCTCAACCAGTCCC	0.468000													4	5					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137987761	137987761	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:137987761G>C	ENST00000252854.4	+	3	485	c.298G>C	c.(298-300)Gac>Cac	p.D100H	OLFM1_ENST00000392991.4_Missense_Mutation_p.D118H|OLFM1_ENST00000277415.11_Missense_Mutation_p.D100H|OLFM1_ENST00000371793.3_Missense_Mutation_p.D118H|OLFM1_ENST00000371796.3_Missense_Mutation_p.D91H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	118					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GACCCAGAGAGACTTGCAGTA	0.517000													5	94					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101609899	101609899	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:101609899G>A	ENST00000335681.5	+	20	2487	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q	NPAS2_ENST00000542504.1_Silent_p.Q799Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	734					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGGGGCAGGCGGTGCTCC	0.672000													35	35					0	0	1	0	0
FAM21A	387680	broad.mit.edu	37	10	51863892	51863892	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:51863892G>A	ENST00000351071.6	+	18	1844	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	FAM21A_ENST00000314664.7_Missense_Mutation_p.E576K|FAM21A_ENST00000399339.2_Missense_Mutation_p.E488K|FAM21A_ENST00000282633.5_Missense_Mutation_p.E576K			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	576					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GTTTGATGATGAAGATGAAGA	0.408000													23	6					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227413	35227413	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:35227413C>T	ENST00000339480.1	+	2	928	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	186					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGTCTTCACCTACTTCA	0.577000													19	46					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745691	77745691	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745691G>A	ENST00000409088.3	-	3	1718	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S436L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S436L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	435						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CATGGCCACTGAGAGAAAGAG	0.498000													10	87					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436773	436773	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:436773G>T	ENST00000338977.5	-	2	1495	c.1447C>A	c.(1447-1449)Cat>Aat	p.H483N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.H495N|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCGCCAGTATGAATCCTCTTA	0.373000													29	39					2.12542e-12	2.18265e-12	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65365776	65365776	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:65365776C>T	ENST00000309100.3	-	10	3015	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	MAP3K11_ENST00000530153.1_Missense_Mutation_p.E587K|MAP3K11_ENST00000532507.1_Missense_Mutation_p.E260K	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	844					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCCCCGCTTCCGGCACCCAC	0.677000													6	15					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56458919C>G	ENST00000370754.5	-	48	12174	c.12175G>C	c.(12175-12177)Gag>Cag	p.E4059Q	DST_ENST00000361203.3_Missense_Mutation_p.E3879Q|DST_ENST00000421834.2_Missense_Mutation_p.E1793Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000370788.2_Missense_Mutation_p.E1793Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q			Q03001	DYST_HUMAN	dystonin	3879					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423000													11	217					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259339	122259339	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122259339C>T	ENST00000462315.1	-	8	2038	c.1745G>A	c.(1744-1746)cGa>cAa	p.R582Q	PARP9_ENST00000492382.1_Missense_Mutation_p.R162Q|PARP9_ENST00000477522.2_Missense_Mutation_p.R582Q|PARP9_ENST00000360356.2_Missense_Mutation_p.R617Q|PARP9_ENST00000471785.1_Missense_Mutation_p.R582Q	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	617					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)		CCAAAGGCCTCGCTCCTTTTT	0.428000													35	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615864	179615864	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615864C>T	ENST00000360870.5	-	46	11485	c.11263G>A	c.(11263-11265)Gat>Aat	p.D3755N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9599							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)			TCAGCTAGATCAGACATAGAT	0.353000													25	33					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083524	23083524	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:23083524G>A	ENST00000567975.1	-	1	345	c.209C>T	c.(208-210)tCt>tTt	p.S70F	USP31_ENST00000219689.7_Intron			Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGCCTGCAGAGAAGAAAAC	0.622000													18	25					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172113	78172113	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:78172113C>T	ENST00000369947.2	-	1	1377	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	336					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGATAGGCATCACTAGGGAGA	0.493000													34	98					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023183	67023183	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:67023183C>G	ENST00000340001.4	-	15	2195	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	ABCA9_ENST00000370732.2_Missense_Mutation_p.E662Q|ABCA9_ENST00000453985.2_Missense_Mutation_p.E662Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	662	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTCCCCTCTTTCAGGAGA	0.423000													35	103					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83348705	83348705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:83348705C>A	ENST00000295470.5	-	4	962	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.E144*|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.E263*|HNRNPDL_ENST00000349655.4_Nonsense_Mutation_p.E144*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		ATGGGAAGTTCAATATTTTCA	0.348000													11	23					1.08611e-07	1.1074e-07	1	1	0
MED13	9969	broad.mit.edu	37	17	60061627	60061627	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60061627G>C	ENST00000397786.2	-	15	2869	c.2793C>G	c.(2791-2793)atC>atG	p.I931M		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	931					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGCAATTTGATAGGGGGCA	0.398000													16	122					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768146	88768146	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768146G>A	ENST00000444431.1	+	0	2746				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAAGAAATGGAGGTGGGAGT	0.473000													45	81					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7174976	7174976	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:7174976G>A	ENST00000406697.1	+	13	1724	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	C1S_ENST00000360817.5_Missense_Mutation_p.E366K|C1S_ENST00000402681.3_Missense_Mutation_p.E199K|C1S_ENST00000328916.3_Missense_Mutation_p.E366K|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	366	Sushi 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)	TGAATCCATTGAGAATGGTAA	0.502000													137	209					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116962987	116962987	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:116962987G>A	ENST00000265441.3	-	1	356	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCGGGGGTGAGCCAGGTCA	0.607000													33	52					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54218834	54218834	+	Missense_Mutation	SNP	G	G	A	rs147606542	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:54218834G>A	ENST00000401642.3	-	2	1071	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SCFD2_ENST00000388940.4_Missense_Mutation_p.A313V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	313					protein transport|vesicle docking involved in exocytosis			p.A313V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCAGTGAGCGCTATCATGTT	0.428000													24	40					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62505152	62505152	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:62505152C>T	ENST00000217121.5	+	3	369	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TPD52L2_ENST00000351424.4_Silent_p.D99D|TPD52L2_ENST00000346249.4_Silent_p.D99D|TPD52L2_ENST00000348257.5_Silent_p.D99D|TPD52L2_ENST00000369927.4_Silent_p.D76D|TPD52L2_ENST00000358548.4_Silent_p.D99D|TPD52L2_ENST00000352482.4_Silent_p.D99D	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	99					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	p.D99D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTGGCATGACGTGCAGGTCT	0.662000													4	17					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66712489	66712489	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:66712489C>G	ENST00000247815.4	+	7	2131	c.2072C>G	c.(2071-2073)tCa>tGa	p.S691*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	691					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTACCCATCTCAATTCAAGAT	0.338000													31	51					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123832659	123832659	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123832659C>T	ENST00000420886.2	-	2	153	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SBNO1_ENST00000267176.4_Missense_Mutation_p.E52K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E52K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E52K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	52							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)		AAACCTAGTTCTAATGCACTA	0.383000													13	14					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153207040	153207040	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:153207040C>G	ENST00000412763.1	-	7	923	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	RENBP_ENST00000369997.3_Missense_Mutation_p.R265P|RENBP_ENST00000393700.3_Missense_Mutation_p.R279P			P51606	RENBP_HUMAN	renin binding protein	0					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CACGTGGGCTCGAAGTTCGGG	0.592000													46	56					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275410	1275410	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1275410G>A	ENST00000447027.1	+	34	15373	c.15315G>A	c.(15313-15315)atG>atA	p.M5105I	MUC5B_ENST00000529681.1_Missense_Mutation_p.M5102I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5102	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGTCCTCATGAGAGAGATCC	0.627000													16	71					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153482074	153482074	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:153482074G>C	ENST00000288670.9	+	16	2327	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.E29Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	654	FH2.				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						GCGAATTCTGGAGGTATTTTT	0.438000													23	37					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98579528	98579528	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:98579528G>A	ENST00000359863.4	+	58	8959	c.8750G>A	c.(8749-8751)cGc>cAc	p.R2917H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2899H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2899H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2917	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCCATCCGCGAGTGGCGG	0.677000													5	15					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847541	96847541	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:96847541G>C	ENST00000375360.3	+	3	431	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E83Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	31							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGGAAATTTAGAACGTCCAAC	0.413000													4	63					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49489281	49489281	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:49489281C>G	ENST00000323798.3	-	4	700	c.504G>C	c.(502-504)caG>caC	p.Q168H	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.Q88H|GYS1_ENST00000541188.1_Missense_Mutation_p.Q88H|GYS1_ENST00000263276.6_Missense_Mutation_p.Q104H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	168					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)		TCTCCTCACTCTGTGCCAGGA	0.587000													13	40					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167343147	167343147	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:167343147C>T	ENST00000366855.6	-	10	1261	c.586G>A	c.(586-588)Gag>Aag	p.E196K	RNASET2_ENST00000508775.1_Missense_Mutation_p.E234K|RNASET2_ENST00000476238.2_Missense_Mutation_p.E234K|RP11-514O12.4_ENST00000507747.1_Intron			O00584	RNT2_HUMAN	ribonuclease T2	234					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CCCCGGCTCTCGGCGGCCCCA	0.552000													108	326					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299571	112299571	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:112299571G>C	ENST00000492406.1	+	6	890	c.607G>C	c.(607-609)Gac>Cac	p.D203H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	203						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCCCAGAAAAGACAATTGTAC	0.448000													49	110					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943886	200943886	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200943886G>A	ENST00000332129.2	-	33	5047	c.4731C>T	c.(4729-4731)atC>atT	p.I1577I	KIF21B_ENST00000461742.2_Silent_p.I1590I|KIF21B_ENST00000422435.2_Silent_p.I1590I|KIF21B_ENST00000360529.5_Silent_p.I1577I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1590					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATGGCATTGATGGGACTGT	0.592000													54	76					0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34678466	34678466	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34678466G>C	ENST00000257831.3	+	7	677	c.556G>C	c.(556-558)Gat>Cat	p.D186H	EHF_ENST00000531794.1_Missense_Mutation_p.D208H|EHF_ENST00000530286.1_Missense_Mutation_p.D186H|EHF_ENST00000450654.2_Missense_Mutation_p.D163H|EHF_ENST00000533754.1_Missense_Mutation_p.D186H	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	186					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AGAGTCACCTGATATGAAAAA	0.418000													15	99					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228176579	228176579	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:228176579G>C	ENST00000396578.3	+	52	5168	c.5006G>C	c.(5005-5007)aGa>aCa	p.R1669T	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1669	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGAAGAAAAGACACTGAAGC	0.328000													10	28					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131803007	131803007	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:131803007G>A	ENST00000392953.3	+	13	2428	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G577R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G637R|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G566R|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G637R|ARHGEF4_ENST00000428230.2_Intron	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	637					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAGGTCACAGGGAAGCCCAA	0.612000													51	65					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103578858	103578858	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:103578858G>A	ENST00000226578.4	-	12	1784	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	MANBA_ENST00000505239.1_Missense_Mutation_p.S505F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	562					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGTACTGAAGGACGGCCAGGA	0.373000													34	44					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338870	13338870	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:13338870G>A	ENST00000602906.1	+	0	658																				kidney(3)|lung(1)	4						gggttcagatgaggaggatga	0.388000													3	24					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646326	57646326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57646326G>T	ENST00000269834.1	-	5	1764	c.1379C>A	c.(1378-1380)tCa>tAa	p.S460*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	460					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)		AACAAGGTATGACCTGTCAGC	0.423000													39	67					6.5261e-18	6.83687e-18	1	1	0
MYO10	4651	broad.mit.edu	37	5	16671030	16671039	+	Frame_Shift_Del	DEL	GAACCTGGAG	GAACCTGGAG	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:16671030_16671039delGAACCTGGAG	ENST00000513610.1	-	39	5933_5942	c.5479_5488delCTCCAGGTTC	c.(5479-5490)ttfs	p.LQVL1827fs	MYO10_ENST00000427430.2_Frame_Shift_Del_p.LQVL1184fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.LQVL1184fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1827	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGGTTTTCTTCC	0.576													12	38	---	---	---	---					
IFNA17	3451	broad.mit.edu	37	9	21227622	21227623	+	Frame_Shift_Ins	INS	-	-	T	rs9298814	by1000genomes	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:21227622_21227623insT	ENST00000413767.2	-	1	598_599	c.550_551insA	c.(550-552)attfs	p.I184fs		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	184			I -> R (in dbSNP:rs9298814).		blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCCTTAATATTTTTTGCAAG	0.381													105	195	---	---	---	---					
UPF2	26019	broad.mit.edu	37	10	12041994	12041994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041994delC	ENST00000356352.2	-	6	2142	c.1669delG	c.(1669-1671)aafs	p.E557fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.E557fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.E557fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	557					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTGCTGGCTTCCTCATCTTCT	0.343													32	55	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								7	105	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23442750	23442750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:23442750delC	ENST00000262713.2	-	8	1894	c.1519delG	c.(1519-1521)aafs	p.E507fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E507fs|AJUBA_ENST00000397388.3_Frame_Shift_Del_p.E90fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	507	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CAGCAGCCTTCCTCATCACTC	0.572											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	43	---	---	---	---					
TMC5	79838	broad.mit.edu	37	16	19451960	19451961	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:19451960_19451961delCT	ENST00000396229.2	+	3	1349_1350	c.600_601delCT	c.(598-603)gactfs	p.DS200fs	TMC5_ENST00000541464.1_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000542583.2_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000381414.4_Frame_Shift_Del_p.DS200fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	200						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						CATACGCAGACTCTCTGGGAAA	0.465													60	130	---	---	---	---