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
NDST3	9348	broad.mit.edu	37	4	118975246	118975246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:118975246C>T	ENST00000296499.5	+	2	584	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q61*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	61	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCTACCATATCAACTAATGGA	0.448000													31	44					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057107	95057107	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:95057107C>T	ENST00000329597.7	+	5	1122	c.912C>T	c.(910-912)ccC>ccT	p.P304P	SERPINA5_ENST00000554866.1_Silent_p.P304P|SERPINA5_ENST00000554276.1_Silent_p.P304P|SERPINA5_ENST00000553780.1_Silent_p.P304P	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	304					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTTACCTTCCCAAATTCTCCA	0.522000													28	30					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061038	6061038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6061038C>T	ENST00000261405.5	-	50	8381	c.8127G>A	c.(8125-8127)atG>atA	p.M2709I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2709					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGAATTTTCATAATTTTAC	0.453000													5	32					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900875	51900875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:51900875G>A	ENST00000268919.4	+	1	637	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	161					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGCAGCGGGAAAAGCGCAG	0.547000													43	82					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54095636	54095636	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54095636C>T	ENST00000502396.1	+	12	2875	c.2843C>T	c.(2842-2844)cCc>cTc	p.P948L	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.P413L			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	413						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCCCCAGGACCCTTCAGTCAT	0.498000													57	179					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898403	6898403	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6898403G>A	ENST00000379829.2	+	1	548	c.525G>A	c.(523-525)gtG>gtA	p.V175V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAACAGGGTGAACCACTTCT	0.522000													37	103					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151775057	151775057	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:151775057G>A	ENST00000255262.3	-	3	1065	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	300					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGCAGCCAGGGATTCACTCC	0.473000													39	49					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856755	66856755	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:66856755C>T	ENST00000359742.4	-	9	1231	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E331K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E331K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	331	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGAAGGATCTCAAGCTTGACC	0.557000													9	18					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437122	44437122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:44437122C>T	ENST00000255108.3	+	4	720	c.548C>T	c.(547-549)cCc>cTc	p.P183L	DPH2_ENST00000412950.2_Missense_Mutation_p.P48L|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAGCTTTTCCCCAACCAGTG	0.607000													27	38					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263421	248263421	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248263421C>T	ENST00000366478.2	+	3	1081	c.744C>T	c.(742-744)atC>atT	p.I248I	OR2L13_ENST00000358120.2_Silent_p.I248I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	248					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)			CTGTAGTGATCTTTTACTATG	0.468000													35	46					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575403	136575403	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:136575403C>T	ENST00000264162.2	-	6	1225	c.1215G>A	c.(1213-1215)ggG>ggA	p.G405G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	405	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACCCCTCTCCCACCCTCGG	0.622000													31	68					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171252334	171252334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:171252334G>A	ENST00000354841.4	+	7	1366	c.1235G>A	c.(1234-1236)aGg>aAg	p.R412K	FMO1_ENST00000402921.2_Missense_Mutation_p.R349K|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.R412K			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	412					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTAATGCAAGGAAAGAAAAC	0.279000													13	89					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718592	103718592	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:103718592T>A	ENST00000245312.3	-	1	604	c.8A>T	c.(7-9)gAt>gTt	p.D3V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	3					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTGTTCGGATCATTCATTGC	0.512000													30	62					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395962	40395962	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40395962G>A	ENST00000221347.6	-	15	7442	c.7435C>T	c.(7435-7437)Ctg>Ttg	p.L2479L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2479	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGAGCCAGCACATACACG	0.647000													34	61					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658272	121658272	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121658272C>T	ENST00000369075.3	+	2	569	c.497C>T	c.(496-498)tCa>tTa	p.S166L	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	166	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTCCCTCCTTCATATTTTGGG	0.493000													20	54					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366438	248366438	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366438C>T	ENST00000456743.1	+	1	107	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGCCCCACCCACACCTTCC	0.493000													99	144					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715136	53715136	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53715136G>A	ENST00000209873.4	-	1	279	c.114C>T	c.(112-114)ttC>ttT	p.F38F	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Silent_p.F38F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	38					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCTGGCCCCGGAAGTCGGGGG	0.657000													49	63					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343754	248343754	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248343754G>A	ENST00000359682.2	+	1	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACAGATGGAATCATTGAT	0.433000													59	187					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170232732	170232732	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:170232732G>A	ENST00000518525.1	+	8	1018	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRP_ENST00000265294.4_Missense_Mutation_p.G185E|GABRP_ENST00000519598.1_Missense_Mutation_p.G185E|GABRP_ENST00000519385.1_Missense_Mutation_p.G185E			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	185						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCTATGATGGAAATGATGTG	0.502000													21	29					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1443211	1443211	+	Silent	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:1443211T>G	ENST00000446702.2	+	21	3426	c.2799T>G	c.(2797-2799)tcT>tcG	p.S933S	CNTN6_ENST00000350110.2_Silent_p.S933S|CNTN6_ENST00000539053.1_Silent_p.S861S			Q9UQ52	CNTN6_HUMAN	contactin 6	933	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAATGAGTCTGAAGTTTTGG	0.363000													11	11					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222069	40222069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40222069C>T	ENST00000221804.4	-	4	455	c.380G>A	c.(379-381)tGg>tAg	p.W127*		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	127	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GATATCTCTCCACACTTGCAC	0.418000													83	107					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679737	51679737	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51679737C>T	ENST00000409535.1	+	17	2912	c.2787C>T	c.(2785-2787)gtC>gtT	p.V929V	RAD54L2_ENST00000296477.3_Silent_p.V623V	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	929						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGGAGTCAGTCCTGCAACTGG	0.502000													4	23					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25314242	25314242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:25314242C>T	ENST00000524413.1	+	3	2437	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	THNSL1_ENST00000376356.4_Missense_Mutation_p.S697L			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	697					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TTGCTGGGTTCATACAATGCA	0.408000													31	34					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52486179	52486179	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:52486179G>A	ENST00000261839.7	-	41	5310	c.5149C>T	c.(5149-5151)Cct>Tct	p.P1717S	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1717						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGGGTAAAAGGAAATGTGACT	0.418000													20	79					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740738	62740738	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62740738C>T	ENST00000371153.4	-	3	416	c.38G>A	c.(37-39)gGg>gAg	p.G13E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	13								p.G13V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTTCATCCCCCTGAGAGGA	0.438000													26	85					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177817	92177817	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:92177817G>A	ENST00000212355.4	-	13	2614	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	TGFBR3_ENST00000525962.1_Missense_Mutation_p.P717S|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P716S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	717	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACTTCTGGGGGTGCTTCTCC	0.468000													12	7					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553106	106553106	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:106553106G>A	ENST00000369096.4	+	5	1305	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	PRDM1_ENST00000369091.2_Silent_p.G321G|PRDM1_ENST00000369089.3_Silent_p.G223G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	357					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCAGCCCTGGGAATACGGTGT	0.627000			"""D, N, Mis, F, S"""		DLBCL								25	17					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225552	149225552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:149225552C>T	ENST00000394320.3	+	11	3088	c.3046C>T	c.(3046-3048)Cag>Tag	p.Q1016*	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000309241.5_Intron			Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	0					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACAAAACCCAGAGCTAAAG	0.517000													8	9					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262016	36262016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:36262016C>T	ENST00000394571.2	+	4	554	c.554C>T	c.(553-555)aCc>aTc	p.T185I	PNPLA1_ENST00000312917.5_Missense_Mutation_p.T99I|PNPLA1_ENST00000388715.3_Missense_Mutation_p.T90I	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	185	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCTGGACCGACGCCATC	0.617000													19	31					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913330	28913330	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:28913330G>A	ENST00000395503.4	+	16	2431	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E	ATP2A1_ENST00000536376.1_Silent_p.E624E|ATP2A1_ENST00000357084.3_Silent_p.E749E	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	749					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTGGAGGAGGGCCGCGCCA	0.592000													5	39					0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268549	16268549	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16268549G>A	ENST00000253680.6	+	9	1534	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.D245N|HSH2D_ENST00000588246.1_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	335						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GCCTGAGAACGACCAGCTCCC	0.632000													10	12					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15656883	15656883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:15656883G>A	ENST00000281171.4	+	6	1477	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PTPRO_ENST00000348962.2_Missense_Mutation_p.E383K|PTPRO_ENST00000543886.1_Missense_Mutation_p.E383K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	383	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGAAGCACATGAATTTGTTGC	0.368000													8	44					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56696603	56696603	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56696603G>A	ENST00000357330.2	+	6	397	c.315G>A	c.(313-315)atG>atA	p.M105I	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	105					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGCTCAGCATGAAAATTCCCA	0.433000													15	13					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994994	11994994	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11994994C>T	ENST00000333796.3	-	1	1592	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	426					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTGGCTCTTTCCACCAAGCGC	0.557000													28	127					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940190	185940190	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:185940190G>A	ENST00000338875.4	+	1	108	c.108G>A	c.(106-108)ccG>ccA	p.P36P	HELT_ENST00000515777.1_Intron|HELT_ENST00000505610.1_Intron	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	36							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)		TGGGTGGACCGATGGCAGGGA	0.602000													23	22					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220336616	220336616	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:220336616C>T	ENST00000312358.7	+	14	3874	c.3742C>T	c.(3742-3744)Cct>Tct	p.P1248S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1248	Ig-like 6.				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)		CTTGGTGTTCCCTGCCGTGGG	0.627000													15	48					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710880	14710880	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:14710880C>T	ENST00000547437.1	+	12	857	c.780C>T	c.(778-780)ccC>ccT	p.P260P	CLEC17A_ENST00000417570.1_Silent_p.P260P|CLEC17A_ENST00000397439.2_Silent_p.P243P	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	260						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GCTGGCTGCCCTTTGAGGGCA	0.527000													22	22					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101601094	101601094	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:101601094C>T	ENST00000311812.2	-	11	1242	c.1092_splice	c.e11+1	p.Q364_splice	SNX31_ENST00000428383.2_Splice_Site_p.Q265_splice|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	364					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAGAACTCACCTGTTTGGTGT	0.488000													28	59					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853460	143853460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:143853460C>T	ENST00000507359.2	+	3	2161	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	KCTD16_ENST00000512467.1_Missense_Mutation_p.S357L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	357						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCAACAGTCAGAGATGCGG	0.537000													28	79					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200956195	200956195	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:200956195G>A	ENST00000332129.2	-	25	3859	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	KIF21B_ENST00000422435.2_Silent_p.F1181F|KIF21B_ENST00000360529.5_Silent_p.F1181F|KIF21B_ENST00000461742.2_Silent_p.F1181F	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	1181					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						CTCGGACAGAGAAGCCCACTC	0.602000													56	75					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515925	51515925	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:51515925C>T	ENST00000328188.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGCTGGTCTCCTATGTGGTC	0.507000													26	47					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894387	123894387	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:123894387C>T	ENST00000375024.1	+	1	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		ATCGTCTGTTCCATCCTGCGG	0.537000													47	24					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079992	44079992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:44079992C>T	ENST00000272286.2	+	6	1039	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	317					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTACAGCAATCCTGCTGACTT	0.597000													75	240					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69708038	69708038	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:69708038G>A	ENST00000409085.4	-	19	2899	c.2523C>T	c.(2521-2523)ccC>ccT	p.P841P	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	841						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGAGGCGCTGGGGAACTGGGG	0.537000													3	15					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264686	99264686	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:99264686A>G	ENST00000343703.5	-	6	677	c.291T>C	c.(289-291)tcT>tcC	p.S97S	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.S107S					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CTGGGCCTAAAGACTAGAGTT	0.383000													9	12					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524184	37524184	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37524184G>A	ENST00000216223.5	-	10	1806	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	536					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGGACAAGTAGGCATCAG	0.637000													13	7					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739000	138739000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:138739000C>T	ENST00000329447.5	-	1	768	c.504G>A	c.(502-504)atG>atA	p.M168I	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	168										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGGGAGTCCATCCGGAGCT	0.652000													31	52					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208241	49208241	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:49208241C>T	ENST00000340334.7	-	6	917	c.549G>A	c.(547-549)ggG>ggA	p.G183G	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.G198G|FOLH1_ENST00000256999.2_Silent_p.G198G|FOLH1_ENST00000533034.1_Silent_p.G183G	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	198					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTACAATTTTCCCAGAGCAAT	0.368000													8	87					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122349	141122349	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:141122349C>T	ENST00000389484.3	-	72	11983	c.11012G>A	c.(11011-11013)gGa>gAa	p.G3671E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3671					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATATATTTCCTCCTTTATT	0.378000										TSP Lung(27;0.18)			29	32					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249609	177249609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:177249609C>T	ENST00000361539.4	+	8	1609	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		433						extracellular region		p.P433S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAGCACCTTTCCTGGCACTTT	0.562000													21	30					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952507	119952507	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:119952507G>A	ENST00000307142.4	+	4	2773	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	SYNPO2_ENST00000434046.2_Silent_p.V859V|SYNPO2_ENST00000429713.2_Silent_p.V859V|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	859						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGGTGCAGTGGGACCATCCA	0.507000													18	73					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79361257	79361257	+	Missense_Mutation	SNP	G	G	A	rs147141222	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:79361257G>A	ENST00000350881.2	+	9	1341	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.R293Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	384	EGF-like 3; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGAGTGTCGAAATGGAGCG	0.388000													35	62					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583247	119583247	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:119583247C>T	ENST00000267260.4	+	9	1221	c.833C>T	c.(832-834)tCg>tTg	p.S278L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	278	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCACCACCTCGCGAGGACGT	0.607000													8	5					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373619	57373619	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57373619C>T	ENST00000403558.1	+	4	1290	c.924C>T	c.(922-924)atC>atT	p.I308I	SERPING1_ENST00000340687.6_Silent_p.I274I|SERPING1_ENST00000278407.4_Silent_p.I274I|SERPING1_ENST00000378323.4_Silent_p.I279I|SERPING1_ENST00000378324.2_Silent_p.I222I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	274			T -> S (in dbSNP:rs1803212).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ACAACAAGATCAGCCGGCTGC	0.552000													59	109					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700683	35700683	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35700683G>A	ENST00000440995.2	+	16	2212	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.G738S|SPEF2_ENST00000356031.3_Missense_Mutation_p.G743S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	743					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTCTTACAGGCTGCAATAG	0.408000													7	26					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578891	57578891	+	Silent	SNP	C	C	T	rs144748998		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:57578891C>T	ENST00000243077.3	+	40	6832	c.6366C>T	c.(6364-6366)cgC>cgT	p.R2122R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2122					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATCAAGCGCGGGAGCAAAG	0.592000													33	37					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3355764	3355764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:3355764C>T	ENST00000252032.9	-	5	485	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	140										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCGGCTTCTTCATCTTCATAC	0.388000													57	111					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373880	138373880	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:138373880C>T	ENST00000409968.1	+	18	3737	c.3559C>T	c.(3559-3561)Cta>Tta	p.L1187L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.L1159L|THSD7B_ENST00000272643.3_Silent_p.L1190L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGTACAATCTAACAGGTAC	0.423000													30	112					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640962	57640962	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57640962C>T	ENST00000254181.4	+	4	1373	c.919C>T	c.(919-921)Cca>Tca	p.P307S	USP29_ENST00000598197.1_Missense_Mutation_p.P307S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	307					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTGCAATTCCATCTTTTGC	0.443000													32	42					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364296	22364296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22364296C>T	ENST00000397121.2	-	3	540	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCATGTCCACATTTGTCA	0.328000													14	47					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774959	14774959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:14774959C>T	ENST00000261170.3	-	22	2717	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	861	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCATGATGATCAACAATGTGG	0.403000													14	17					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779412	159779412	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159779412C>T	ENST00000321935.6	+	6	932	c.846C>T	c.(844-846)tcC>tcT	p.S282S	FCRL6_ENST00000368106.3_Silent_p.S275S|FCRL6_ENST00000392235.3_Silent_p.S180S|FCRL6_ENST00000339348.5_Silent_p.S275S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	275	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGAACTACTCCTGCGAGGCTG	0.537000													9	53					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513898	165513898	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:165513898C>T	ENST00000294818.1	+	1	655	c.365C>T	c.(364-366)tCg>tTg	p.S122L	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	122						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCACTTTCTCGGTGCTCAGC	0.493000													85	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600488	179600488	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179600488C>T	ENST00000589042.1	-	50	14909	c.14685G>A	c.(14683-14685)gaG>gaA	p.E4895E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.E4578E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E3651E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4578	Ig-like 29.						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)			ACTGCACAGGCTCTAATTCTT	0.428000													17	16					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555209	10555209	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:10555209C>T	ENST00000304519.5	+	3	371	c.342C>T	c.(340-342)ttC>ttT	p.F114F	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	114										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GTGACTACTTCCACCACACCT	0.577000													73	134					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362659	9362659	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9362659G>A	ENST00000456448.1	+	1	1054	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAGGAACAAGGACATTCAAAG	0.468000													36	23					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110036290	110036290	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:110036290C>T	ENST00000230124.3	+	2	200	c.76C>T	c.(76-78)Cta>Tta	p.L26L	FIG4_ENST00000441478.2_5'UTR	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	26					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGATACTTTCTAGTTGGGAG	0.299000													22	12					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900947	86900947	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:86900947G>A	ENST00000376238.4	-	13	1409	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	SLC28A3_ENST00000537648.1_Silent_p.L385L|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	454					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGCAATCAGATTCACAGCG	0.458000													10	17					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826128	76826128	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:76826128T>C	ENST00000248598.5	-	2	820	c.788A>G	c.(787-789)aAc>aGc	p.N263S	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	263	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTGGTGAAGTTGGTGCTCCC	0.483000													40	66					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801411	196801411	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196801411C>T	ENST00000312428.6	-	20	3284	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1062	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGTTTCTTTTCCAAATATTCA	0.343000													7	47					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534822	55534822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55534822G>A	ENST00000220676.1	+	3	909	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254E(1)|p.G64E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCCCAAGGGAAATGCAAAG	0.418000													17	35					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5012230	5012230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:5012230G>A	ENST00000250076.3	-	4	1270	c.616C>T	c.(616-618)Cca>Tca	p.P206S	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.P206S|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCACTCTTTGGGAAAGGCTGG	0.532000													69	94					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125022946	125022946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:125022946G>A	ENST00000522917.1	+	14	2019	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D605N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	605						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAAATGGCAGACTTCCTGGT	0.488000													71	128					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367438	17367438	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:17367438G>A	ENST00000252597.3	-	9	1485	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	USHBP1_ENST00000431146.2_Silent_p.L374L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	438							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						ATCTTCATTAGAGAACGGCGC	0.597000													24	68					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971928	89971928	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89971928G>A	ENST00000405460.2	+	25	5441	c.5345G>A	c.(5344-5346)gGa>gAa	p.G1782E	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1782	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCAACCAGGAGAAAGATAT	0.299000													10	19					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558247	159558247	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159558247G>A	ENST00000255040.2	+	2	518	c.421G>A	c.(421-423)Ggt>Agt	p.G141S		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	141	Pentaxin.		G -> S (in a breast cancer sample; somatic mutation).		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G141S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGCGACAGGGTTACTTTGT	0.517000													21	30					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175263	159175263	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159175263C>T	ENST00000537147.1	+	3	877	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	DARC_ENST00000368122.2_Missense_Mutation_p.P12S|DARC_ENST00000368121.2_Missense_Mutation_p.P14S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	12					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGAGCTCTCCCCCTCAACTGA	0.537000													22	32					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141208161	141208161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:141208161C>T	ENST00000389484.3	-	63	11004	c.10033G>A	c.(10033-10035)Gga>Aga	p.G3345R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3345	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3345R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGATCCATCACCACAG	0.348000										TSP Lung(27;0.18)			26	35					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346562	113346562	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113346562C>T	ENST00000452357.2	+	2	592	c.402C>T	c.(400-402)ttC>ttT	p.F134F	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Silent_p.F134F|OAS1_ENST00000551241.1_Silent_p.F134F|OAS1_ENST00000202917.5_Silent_p.F134F|OAS1_ENST00000553185.1_Silent_p.F134F	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	134	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CGCTCAGCTTCGTACTGAGTT	0.572000													35	72					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21159334	21159334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:21159334G>A	ENST00000255882.6	-	11	1374	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	PI4KA_ENST00000572273.1_Missense_Mutation_p.P372S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	372					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTTGAGGGGGCTCAGCTCA	0.562000													45	33					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000													17	40					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046806	73046806	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:73046806C>T	ENST00000261180.4	+	17	2815	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	907					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTTCTAAATCTGTCACTGAA	0.333000													13	21					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76668600	76668600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:76668600G>A	ENST00000538941.2	-	29	3959	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	SCAPER_ENST00000563290.1_Missense_Mutation_p.S1253F|SCAPER_ENST00000324767.7_Missense_Mutation_p.S1253F	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1252						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCCCAGCAGGGAGCTGGCCAT	0.562000													12	14					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105632	151105632	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151105632C>T	ENST00000474524.1	+	35	5056	c.5018C>T	c.(5017-5019)cCg>cTg	p.P1673L	MED12L_ENST00000273432.4_Missense_Mutation_p.P1533L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTGTCCCCGTGGGACTTG	0.527000													12	104					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725426	38725426	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:38725426C>T	ENST00000409072.3	-	2	1114	c.180G>A	c.(178-180)gaG>gaA	p.E60E						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CTGCGGGTTCCTCCAGGTTAT	0.527000													46	49					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7174710	7174710	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:7174710G>A	ENST00000341500.5	-	4	1046	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	INSR_ENST00000302850.5_Missense_Mutation_p.P336L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	336	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCACACCTTGGGACAGGGACC	0.592000													306	281					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444336	179444336	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179444336C>T	ENST00000589042.1	-	319	67812	c.67588G>A	c.(67588-67590)Gga>Aga	p.G22530R	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13590R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13657R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20889R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13465R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19962R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20889	Fibronectin type-III 63.						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)			GTTCCTTCTCCATTTTCATTC	0.423000													42	83					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588393	204588393	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:204588393G>A	ENST00000367175.1	-	1	2940	c.728C>T	c.(727-729)tCc>tTc	p.S243F	LRRN2_ENST00000367176.3_Missense_Mutation_p.S243F|LRRN2_ENST00000367177.3_Missense_Mutation_p.S243F			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCATAGAAGGAGAGGCTCTC	0.642000													15	30					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101296521	101296521	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:101296521G>A	ENST00000369162.2	-	4	648	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	ASCC3_ENST00000522650.1_Missense_Mutation_p.H102Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCTTCAAGTGAAATGTCATG	0.403000													21	6					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921622	103921622	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103921622G>A	ENST00000405356.1	+	12	2146	c.1911G>A	c.(1909-1911)agG>agA	p.R637R	NOLC1_ENST00000605788.1_Silent_p.R627R|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.R346R|NOLC1_ENST00000488254.2_Silent_p.R628R			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	627					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATTCCGAAGGGTCAGGGAGG	0.478000													6	49					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26677682	26677682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:26677682G>T	ENST00000256737.3	+	25	3439	c.2587G>T	c.(2587-2589)Gga>Tga	p.G863*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.G847*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.G847*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.G717*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	863						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGCTTGAAGGGATATGTCAA	0.348000													21	56					1.55469e-16	1.57862e-16	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	43950960	43950960	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:43950960G>A	ENST00000262726.7	-	27	3690	c.3437C>T	c.(3436-3438)gCt>gTt	p.A1146V	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A994V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CATTTTCTCAGCCCACTCATC	0.537000													18	15					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448473	49448473	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:49448473C>T	ENST00000374201.3	-	6	932	c.630G>A	c.(628-630)agG>agA	p.R210R	FRMPD2_ENST00000305531.3_Silent_p.R186R|FRMPD2_ENST00000407470.4_Silent_p.R179R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	210					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCAGCCTCTTCCTGAGCAGGT	0.587000													13	14					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054843	29054843	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29054843G>A	ENST00000377173.2	-	1	247	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TAGTGAGAAAGAAATACATGG	0.388000													28	69					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687533	5687533	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:5687533G>A	ENST00000356134.5	-	23	2459	c.2389_splice	c.e23+1	p.I796_splice	ANO2_ENST00000327087.8_Splice_Site_p.I795_splice|ANO2_ENST00000546188.1_Splice_Site_p.I796_splice	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	800						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCACGTACCGATATCTTTGG	0.547000													25	38					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937781	156937781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:156937781G>A	ENST00000368194.3	-	11	2000	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.Q281*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	281	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCACTCACCTGGTCACCGGTT	0.567000													11	37					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476393	10476393	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10476393C>A	ENST00000525621.1	-	7	1292	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	TYK2_ENST00000529370.1_Missense_Mutation_p.G271C|TYK2_ENST00000524462.1_Missense_Mutation_p.G86C|TYK2_ENST00000264818.6_Missense_Mutation_p.G271C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	271	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGCTCTGTGCCGAAGCGGGGT	0.677000													3	28					1	1	1	1	0
RNF6	6049	broad.mit.edu	37	13	26788680	26788680	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:26788680G>A	ENST00000381588.4	-	5	2091	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RNF6_ENST00000399762.2_Missense_Mutation_p.R91C|RNF6_ENST00000346166.3_Missense_Mutation_p.R447C|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R447C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	447					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGCTCTAAACGAGAAATGGTT	0.443000													27	93					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372652	175372652	+	Silent	SNP	C	C	T	rs142283399	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175372652C>T	ENST00000367674.1	-	4	1308	c.600G>A	c.(598-600)tcG>tcA	p.S200S	TNR_ENST00000263525.2_Silent_p.S200S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	200	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGTAGGGCTCCGAGCAATTCT	0.582000													34	102					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39616440	39616440	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:39616440G>A	ENST00000225899.3	-	7	1372	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	423	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCACGCATGGGGAGGGCACAC	0.602000													7	8					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142814	81142814	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:81142814G>A	ENST00000534142.1	-	0	1458				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGTAGTTGAAGATTCCCAGCT	0.522000													6	3					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744641	19744641	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19744641C>T	ENST00000284885.3	-	6	566	c.532_splice	c.e6-1	p.G178_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	178					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGAGACATTTCCTTTAAAAAA	0.328000													10	19					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363045	40363045	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40363045C>T	ENST00000221347.6	-	32	15032	c.15025G>A	c.(15025-15027)Gag>Aag	p.E5009K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5009	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGAAGGTCTCCACACTGGAC	0.662000													5	16					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198244	132198244	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:132198244G>A	ENST00000378673.2	-	3	1268	c.402C>T	c.(400-402)atC>atT	p.I134I	GDF9_ENST00000296875.2_Silent_p.I134I|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	134					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATGGAAGGATTCCTAAGA	0.373000													16	24					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137542246	137542246	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:137542246G>A	ENST00000394886.2	-	3	392	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CDC23_ENST00000505120.1_Missense_Mutation_p.P120S|CDC23_ENST00000394884.3_Missense_Mutation_p.S121F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGATATCTGGAATACATATA	0.388000													31	46					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518696	113518696	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:113518696C>T	ENST00000284601.3	-	4	2519	c.2451G>A	c.(2449-2451)atG>atA	p.M817I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	817					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCCTTCTCCATTTCATCTA	0.378000													23	58					0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126470	82126470	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:82126470G>A	ENST00000372199.1	+	6	895	c.297G>A	c.(295-297)acG>acA	p.T99T	DYDC2_ENST00000372197.1_Silent_p.T99T|DYDC2_ENST00000256039.2_Silent_p.T99T|DYDC2_ENST00000444807.2_Silent_p.T99T|DYDC2_ENST00000372198.1_Silent_p.T113T			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	99							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTGTTTCCACGAAGAAGACCA	0.423000													30	109					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995988	57995988	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57995988C>T	ENST00000316770.2	-	1	402	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGCCATGATCGCCAAGAGGA	0.592000													21	24					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496921	152496921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:152496921G>A	ENST00000397345.3	-	61	8835	c.8633C>T	c.(8632-8634)cCc>cTc	p.P2878L	NEB_ENST00000172853.10_Missense_Mutation_p.P2878L|NEB_ENST00000603639.1_Missense_Mutation_p.P2878L|NEB_ENST00000604864.1_Missense_Mutation_p.P2878L|NEB_ENST00000409198.1_Missense_Mutation_p.P2878L|NEB_ENST00000427231.2_Missense_Mutation_p.P2878L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2878					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTGGTCGGGCAGGCATGT	0.542000													65	84					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913428	87913428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87913428G>A	ENST00000380079.4	-	2	258	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.Q53*|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Q53*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	53					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTGGTCTTCTGGGGGTTTCGA	0.438000													36	43					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215693	130215693	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:130215693C>T	ENST00000276211.5	+	2	399	c.54C>T	c.(52-54)atC>atT	p.I18I	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	18					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCCCAGAATCATGCCCCCTT	0.522000													91	39					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657239	72657239	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:72657239C>T	ENST00000425256.1	-	0	2672					NR_002164.1																						tctcccaatcccttgggacta	0.502000													9	31					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092603	151092603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:151092603C>T	ENST00000370340.3	+	3	734	c.467C>T	c.(466-468)tCc>tTc	p.S156F	MAGEA4_ENST00000393920.1_Missense_Mutation_p.S156F|MAGEA4_ENST00000276344.2_Missense_Mutation_p.S156F|MAGEA4_ENST00000393921.1_Missense_Mutation_p.S156F|MAGEA4_ENST00000360243.2_Missense_Mutation_p.S156F|MAGEA4_ENST00000370335.1_Missense_Mutation_p.S156F|MAGEA4_ENST00000370337.4_Missense_Mutation_p.S156F			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	156	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAAGCCTCCGAGTCCCTG	0.527000													61	17					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887692	30887692	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:30887692C>T	ENST00000392772.2	-	11	1064	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	SEC14L4_ENST00000540456.1_Missense_Mutation_p.G302R|SEC14L4_ENST00000381982.3_Missense_Mutation_p.G317R|SEC14L4_ENST00000255858.7_Missense_Mutation_p.G317R			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	317	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGAAAACCCCAAAGCCGATG	0.617000													26	25					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580760	22580760	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22580760G>A	ENST00000390454.2	+	0	179																											ACAAGAAGGAGAGGACTTCAC	0.403000													8	29					0	0	1	0	0
SYPL1	6856	broad.mit.edu	37	7	105739611	105739611	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:105739611G>A	ENST00000455385.2	-	2	309	c.187C>T	c.(187-189)Cca>Tca	p.P63S	SYPL1_ENST00000470347.1_Missense_Mutation_p.P63S|SYPL1_ENST00000011473.2_Missense_Mutation_p.P81S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	81	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CACCTGAATGGATAACCAAAA	0.363000													45	53					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779778	36779778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:36779778G>A	ENST00000416516.2	-	2	863	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	125						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCCAAGATGCTTCTCT	0.572000													68	132					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130536382	130536382	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:130536382A>G	ENST00000532763.1	-	2	166	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.L13L|SAMD3_ENST00000439090.2_Silent_p.L13L|SAMD3_ENST00000437477.2_Silent_p.L13L|SAMD3_ENST00000457563.2_Silent_p.L37L|SAMD3_ENST00000368134.2_Silent_p.L13L			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	13	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCTCCACCAACCAACTGCAG	0.408000													11	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615810	179615810	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179615810G>A	ENST00000360870.5	-	46	11539	c.11317C>T	c.(11317-11319)Cca>Tca	p.P3773S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9610							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)			AGGGCATGTGGATTTTGCACA	0.348000													22	85					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915542	7915542	+	Silent	SNP	C	C	T	rs63749078		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7915542C>T	ENST00000254854.4	+	9	1980	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	610	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTGCGGCCCTCTGGGAGGGCA	0.617000													18	38					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718370	103718370	+	Missense_Mutation	SNP	C	C	T	rs143297386	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:103718370C>T	ENST00000245312.3	-	1	826	c.230G>A	c.(229-231)gGa>gAa	p.G77E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	77					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGCATGATTCCAAACTGACA	0.522000													35	73					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481699	140481699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140481699C>T	ENST00000231130.2	+	1	1466	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		489	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTAACCTACTCGCTGCTGCCG	0.642000													40	111					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089267	10089267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10089267C>T	ENST00000264828.3	-	41	3086	c.3001G>A	c.(3001-3003)Ggg>Agg	p.G1001R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1001	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCACGGGCCCTGGGGGGCCC	0.542000													19	16					0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15752469	15752469	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:15752469C>T	ENST00000375980.4	+	2	488	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	137	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACATGATCAAGGAGGTGG	0.597000													29	39					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648105	28648105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28648105C>T	ENST00000280904.6	-	16	3025	c.2582G>A	c.(2581-2583)gGa>gAa	p.G861E	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	861					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CGATCCTCTTCCTTCATAGTT	0.413000													16	30					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367434	25367434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:25367434G>A	ENST00000255324.5	+	10	1242	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.G397E|RNF17_ENST00000255325.5_Missense_Mutation_p.G398E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	397					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCAGATGGGATCTAGCCCT	0.383000													60	127					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483437	28483437	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28483437C>T	ENST00000361902.1	-	1	133	c.84G>A	c.(82-84)agG>agA	p.R28R	GPX6_ENST00000474923.1_Silent_p.R28R|GPX6_ENST00000483058.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	28					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGCTCACCTTCCTATTTTGAG	0.532000													16	42					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365860	175365860	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175365860C>T	ENST00000367674.1	-	5	1768	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	TNR_ENST00000263525.2_Missense_Mutation_p.E354K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	354	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCACATATTCCGTCACTGCC	0.622000													43	59					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575207	28575207	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:28575207C>T	ENST00000220562.4	+	3	2533	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	EXTL3_ENST00000523149.1_Missense_Mutation_p.P160L|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	544						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCAGCCGCTCCCATCCGGGAA	0.587000													20	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046026	9046026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9046026G>A	ENST00000397910.4	-	5	35808	c.35605C>T	c.(35605-35607)Ctt>Ttt	p.L11869F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11871	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						AGTAAACCAAGGGAAAGAGTT	0.502000													25	146					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521497	8521497	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:8521497G>A	ENST00000381196.4	-	17	1284	c.741C>T	c.(739-741)atC>atT	p.I247I	PTPRD_ENST00000397606.3_Silent_p.I237I|PTPRD_ENST00000397611.3_Silent_p.I244I|PTPRD_ENST00000397617.3_Silent_p.I237I|PTPRD_ENST00000355233.5_Silent_p.I247I|PTPRD_ENST00000540109.1_Silent_p.I247I|PTPRD_ENST00000360074.4_Silent_p.I234I|PTPRD_ENST00000537002.1_Silent_p.I244I|PTPRD_ENST00000358503.5_Silent_p.I234I|PTPRD_ENST00000486161.1_Silent_p.I247I|PTPRD_ENST00000356435.5_Silent_p.I247I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	247	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCCTGGCATGATTTCATGAT	0.468000										TSP Lung(15;0.13)			26	25					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510193	169510193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169510193G>A	ENST00000367796.3	-	13	4351	c.4150C>T	c.(4150-4152)Ctc>Ttc	p.L1384F	F5_ENST00000367797.3_Missense_Mutation_p.L1379F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1379	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGACTGAGTTCTGGAGAG	0.527000													38	146					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862462	5862462	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5862462G>A	ENST00000329322.5	-	1	665	c.666C>T	c.(664-666)atC>atT	p.I222I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.I226I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCATAGAGGATCCTGATAT	0.463000													25	14					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21494383	21494383	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:21494383G>A	ENST00000313654.9	+	57	7580	c.7339G>A	c.(7339-7341)Gac>Aac	p.D2447N	LAMA3_ENST00000269217.6_Missense_Mutation_p.D838N|LAMA3_ENST00000399516.3_Missense_Mutation_p.D2391N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.D782N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2447	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCTCCCGGGACTACATCGG	0.517000													23	35					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833438	176833438	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:176833438C>T	ENST00000367654.2	-	23	3904	c.3891G>A	c.(3889-3891)ggG>ggA	p.G1297G	ASTN1_ENST00000361833.2_Silent_p.G1289G|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1297					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTGCTGTCCCCATAGTCGT	0.537000													24	106					0	0	1	0	0
NIPAL2	79815	broad.mit.edu	37	8	99208210	99208210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:99208210G>A	ENST00000341166.3	-	9	1159	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NIPAL2_ENST00000430223.2_Missense_Mutation_p.L302F|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	302						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GGAGCACCAAGGAATTCCTGA	0.289000													18	36					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113700008	113700008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:113700008G>A	ENST00000003302.4	-	10	1038	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	USP28_ENST00000260188.5_Missense_Mutation_p.R324C|USP28_ENST00000545540.1_Missense_Mutation_p.R199C|USP28_ENST00000537706.1_Missense_Mutation_p.R324C|USP28_ENST00000544967.1_Missense_Mutation_p.R32C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	324					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTAAGTTGCGATAACCGTTT	0.463000													31	17					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072871	15072871	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15072871C>T	ENST00000598504.1	-	8	2237	c.878G>A	c.(877-879)aGg>aAg	p.R293K	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R293K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R229K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R293K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R293K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	293					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGAAGTCCCTGAGGACTCT	0.582000													13	90					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230840018	230840018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:230840018G>A	ENST00000366667.4	-	4	1404	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	397					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTCAGCCTGGGCGAGCAGGTC	0.582000													15	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567353	179567353	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179567353G>A	ENST00000589042.1	-	107	30485	c.30261C>T	c.(30259-30261)atC>atT	p.I10087I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I9770I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I8843I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9770	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCACCACGATGTTCTGTA	0.408000													29	30					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364675	142364675	+	RNA	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142364675C>A	ENST00000390397.2	+	0	346																											CATCCCCAACCAGACAGCTCT	0.483000													35	34					4.32679e-17	4.39557e-17	1	1	0
A1CF	29974	broad.mit.edu	37	10	52573626	52573626	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:52573626G>A	ENST00000395489.2	-	12	1713	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.L438L|A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000395495.1_Silent_p.L391L|A1CF_ENST00000373997.3_Silent_p.L438L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.L446L|A1CF_ENST00000373993.1_Silent_p.L446L	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	446					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGGGAGCGAGTTTAATTC	0.388000													37	36					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55096543	55096543	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55096543T>C	ENST00000371316.3	+	16	1848	c.1766T>C	c.(1765-1767)cTt>cCt	p.L589P		NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	589					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ctgagtactcttaaagcaatc	0.527000													11	8					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211501	38211501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:38211501C>T	ENST00000379705.3	-	11	3330	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.V652I|TRPC4_ENST00000338947.5_Missense_Mutation_p.V652I|TRPC4_ENST00000379681.3_Missense_Mutation_p.V830I|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	825	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTCCTGAACCACCAGGGCA	0.423000													17	46					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851747	39851747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:39851747C>T	ENST00000538976.1	+	15	2037	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	DAAM2_ENST00000398904.2_Missense_Mutation_p.P619S|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.P619S|RP11-61I13.3_ENST00000607675.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	619	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAGCGTGTCCCTGGCACCGT	0.498000													12	30					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1481021	1481021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:1481021C>T	ENST00000345913.4	+	8	1074	c.983C>T	c.(982-984)aCc>aTc	p.T328I	TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T328I|TPO_ENST00000382201.3_Missense_Mutation_p.T328I|TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.T328I|TPO_ENST00000346956.3_Missense_Mutation_p.T328I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	328					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGCGTCCACCGTGTATGGC	0.706000													8	5					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180320171	180320171	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:180320171C>T	ENST00000412756.2	+	1	191	c.122C>T	c.(121-123)cCa>cTa	p.P41L	TTC14_ENST00000382584.4_Missense_Mutation_p.P41L|TTC14_ENST00000296015.4_Missense_Mutation_p.P41L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	41							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCCGCCGAGCCAGCCCGGGGC	0.652000													4	19					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410835	23410835	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:23410835G>A	ENST00000379361.4	+	3	2060	c.1200G>A	c.(1198-1200)agG>agA	p.R400R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	400	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGGCAGCCAGGATTTTCTGCT	0.468000													45	17					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934327	136934327	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:136934327A>T	ENST00000359015.4	-	17	2706	c.2346T>A	c.(2344-2346)ttT>ttA	p.F782L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.F29L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	782	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GCTTTGTATAAAAGCCAATTG	0.368000													13	28					0	0	1	0	0
MIR656	724026	broad.mit.edu	37	14	101533063	101533063	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:101533063G>A	ENST00000385224.1	+	0	3					NR_030392.1																						AGTGGTACCTGAAATAGGTTG	0.537000													15	51					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72281237	72281237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:72281237G>A	ENST00000579490.1	+	2	548	c.413G>A	c.(412-414)tGg>tAg	p.W138*	DNAI2_ENST00000582036.1_Nonsense_Mutation_p.W81*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.W81*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.W81*|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	81					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGGGGGGCTGGCCCAAGGAC	0.572000									Kartagener syndrome				49	41					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413476	65413476	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:65413476C>T	ENST00000519389.1	+	8	1706	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000343002.2_Silent_p.I455I|HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000374727.3_Silent_p.I458I|HEPH_ENST00000336279.5_Silent_p.I188I			Q9BQS7	HEPH_HUMAN	hephaestin	455	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTTGGAATCCTGGGTGAGG	0.423000													13	1					0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086379	74086379	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74086379C>T	ENST00000381139.1	+	2	791	c.460C>T	c.(460-462)Cct>Tct	p.P154S	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	154						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACCTTATTTTCCTCCTTCTAG	0.483000													8	49					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949462	38949462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38949462G>A	ENST00000302328.3	-	10	1649	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	SCN11A_ENST00000450244.1_Missense_Mutation_p.S484F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S484F|SCN11A_ENST00000444237.2_Missense_Mutation_p.S484F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	484					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)	ATCTTCATCAGAATCTGACCC	0.393000													27	59					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16670951	16670951	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:16670951G>A	ENST00000513610.1	-	39	6021	c.5567C>T	c.(5566-5568)tCc>tTc	p.S1856F	MYO10_ENST00000505695.1_Missense_Mutation_p.S1195F|MYO10_ENST00000515803.1_Missense_Mutation_p.S1195F|MYO10_ENST00000274203.9_Missense_Mutation_p.S1213F|MYO10_ENST00000427430.2_Missense_Mutation_p.S1213F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1856	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						TCTCTGCAGGGAATAAACCTC	0.572000													27	36					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882152	228882152	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:228882152C>T	ENST00000392056.3	-	7	3464	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1140K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1140						cytoplasm	protein binding	p.E1140K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCTCCCTTCATTTTCCATC	0.532000													25	27					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48431662	48431662	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:48431662G>A	ENST00000435803.1	+	38	11823	c.11799G>A	c.(11797-11799)cgG>cgA	p.R3933R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3933	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACCGTCCGGGAACATTTGC	0.512000													13	42					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642372	57642372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57642372C>T	ENST00000254181.4	+	4	2783	c.2329C>T	c.(2329-2331)Caa>Taa	p.Q777*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q777*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	777					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTAAGACTTCAAAAGGCTGA	0.463000													13	22					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921782	60921782	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:60921782G>A	ENST00000252999.3	-	8	1213	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	LAMA5_ENST00000370677.3_Silent_p.L383L|LAMA5_ENST00000370692.3_Silent_p.L383L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	383	Laminin EGF-like 2.				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)	GTGCCATCCAGGCTCTGGCTG	0.657000													10	26					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013385	44013385	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44013385C>T	ENST00000269439.7	+	2	345	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	98							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GTCCCTCCTTCCTACCTCAGG	0.697000													13	33					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3193344	3193344	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:3193344C>T	ENST00000246117.4	+	3	869	c.438C>T	c.(436-438)gcC>gcT	p.A146A	NCLN_ENST00000590671.1_Silent_p.A72A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	146					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACTTTGCCGTGGAGGACG	0.637000													5	45					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846503	61846503	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61846503C>T	ENST00000280772.1	-	30	3871	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	ANK3_ENST00000355288.2_Missense_Mutation_p.G361E|ANK3_ENST00000503366.1_Missense_Mutation_p.G1228E|ANK3_ENST00000373827.2_Missense_Mutation_p.G1221E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1227					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACACCTTCTCCTGAGGGCGG	0.463000													36	53					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836085	47836085	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47836085G>A	ENST00000396965.1	-	7	1751	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZNF182_ENST00000305127.6_Silent_p.F467F|ZNF182_ENST00000376943.3_Silent_p.F448F	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	467					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						ACTTCTGAGAGAAGGCTTTCT	0.408000													18	7					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329915	50329915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50329915C>T	ENST00000336089.4	-	3	342	c.343G>A	c.(343-345)Gat>Aat	p.D115N	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							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)		AGGCCCACATCCACGAGGCTA	0.667000													9	23					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:63246607C>T	ENST00000322893.7	-	10	2126	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.E562K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000													17	13					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:143960599C>T	ENST00000292427.4	-	2	276	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CYP11B1_ENST00000377675.3_Missense_Mutation_p.D127N|CYP11B1_ENST00000517471.1_Missense_Mutation_p.D82N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	82					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I				42	56					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721993	64721993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:64721993C>T	ENST00000338957.4	+	5	1482	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P461L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	461							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTAAGTGTTCCCACAATCCCA	0.602000													46	20					0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605553	209605553	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209605553C>T	ENST00000384891.1	+	0	76					NR_029622.1																						AACCAGATTTCAGTGGAGTGA	0.572000													15	32					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6787525	6787525	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6787525G>A	ENST00000396795.1	-	5	951	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	ZNF384_ENST00000319770.3_Missense_Mutation_p.P136S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P152S|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.P152S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P152S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGCCAGGGGGAAGAGCTGAG	0.587000			T	"""EWSR1, TAF15 """	ALL								17	30					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119592994	119592994	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:119592994C>T	ENST00000409003.4	-	2	280	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD12_ENST00000314727.4_Missense_Mutation_p.G51E	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	51										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CTTGGGAGTTCCTTTCTGGTC	0.428000													31	50					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751795	133751795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:133751795C>T	ENST00000409261.1	-	7	732	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R120Q|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R120Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R120Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	120							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						CAATAGATTTCGTACTGTTTC	0.348000													6	5					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:6690673G>A	ENST00000321535.4	+	4	1385	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	419										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418000													10	31					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109523519	109523519	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:109523519G>A	ENST00000257548.5	+	13	1430	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	USP30_ENST00000392784.2_Missense_Mutation_p.G415E	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	446					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GTCCACCATGGAGACATGCAC	0.498000													19	64					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556630	111556630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:111556630G>A	ENST00000389811.4	+	7	724	c.500G>A	c.(499-501)gGa>gAa	p.G167E	ACOXL_ENST00000439055.1_Missense_Mutation_p.G167E|ACOXL_ENST00000340561.4_Missense_Mutation_p.G167E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	167					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATGAAAACGGAAGCTTGTAC	0.507000													29	50					0	0	1	0	0
C19orf24	55009	broad.mit.edu	37	19	1279060	1279060	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:1279060C>T	ENST00000469144.1	+	3	560	c.251C>T	c.(250-252)gCc>gTc	p.A84V	C19orf24_ENST00000409293.4_3'UTR			Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	0						cytoplasm|extracellular region part|integral to membrane							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		ACAGCCACCGCCCAGGACGCT	0.682000													52	47					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34852987	34852987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:34852987G>A	ENST00000420428.2	-	7	1336	c.941C>T	c.(940-942)cCa>cTa	p.P314L	CELF4_ENST00000588597.1_Missense_Mutation_p.P303L|CELF4_ENST00000334919.5_Missense_Mutation_p.P304L|CELF4_ENST00000603232.1_Missense_Mutation_p.P313L|CELF4_ENST00000601019.1_Missense_Mutation_p.P312L|CELF4_ENST00000591282.1_Missense_Mutation_p.P314L|CELF4_ENST00000591287.1_Missense_Mutation_p.P313L|CELF4_ENST00000361795.5_Missense_Mutation_p.P312L|CELF4_ENST00000412753.1_Missense_Mutation_p.P313L	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	314					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ACCTGAGGTTGGGGTCATAGG	0.652000													15	26					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355655	220355655	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:220355655G>A	ENST00000312358.7	+	38	9494	c.9362G>A	c.(9361-9363)cGc>cAc	p.R3121H	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3121	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTTGGCCACCGCACGGGCACG	0.662000													7	25					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50227719	50227719	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50227719G>A	ENST00000332853.3	-	8	962	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	313						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CCTCGAAGAGGATCTGGGCGT	0.517000													7	23					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591308	111591308	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:111591308C>T	ENST00000304987.3	+	11	1775	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	534					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACAACCCTTCCCTTAAGGACA	0.517000													48	43					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953216	196953216	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196953216A>T	ENST00000367414.5	+	3	507	c.451A>T	c.(451-453)Att>Ttt	p.I151F	CFHR5_ENST00000256785.4_Missense_Mutation_p.I127F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	127	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAGAAAAACATTTCGTGTGT	0.373000													24	21					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215353	68215353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:68215353G>A	ENST00000347230.4	-	42	7558	c.7420C>T	c.(7420-7422)Cgg>Tgg	p.R2474W		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2474					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGTAGGCCCGAACCTGGCAG	0.532000													4	24					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142649122	142649122	+	Silent	SNP	G	G	A	rs143236056	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:142649122G>A	ENST00000477265.1	+	5	5152	c.144G>A	c.(142-144)acG>acA	p.T48T	IL15_ENST00000514653.1_Silent_p.T48T|IL15_ENST00000296545.7_Silent_p.T75T|IL15_ENST00000320650.4_Silent_p.T75T|IL15_ENST00000529613.1_Silent_p.T75T|IL15_ENST00000394159.1_Silent_p.T48T			P40933	IL15_HUMAN	interleukin 15	75					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					CTTTATATACGGAAAGTGATG	0.264000													6	29					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040031	129040031	+	Missense_Mutation	SNP	G	G	T	rs147880101		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:129040031G>T	ENST00000274487.4	+	21	3386	c.3241G>T	c.(3241-3243)Gac>Tac	p.D1081Y	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1081	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAGGCTGAAGACTGTGAGGA	0.448000													41	74					1.96642e-18	1.99867e-18	1	1	0
GLRB	2743	broad.mit.edu	37	4	158057798	158057798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:158057798G>A	ENST00000264428.4	+	5	745	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	GLRB_ENST00000541722.1_Missense_Mutation_p.E159K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.E159K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	159					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGTGACCCAGGAAAACATCCT	0.338000													54	62					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111637758	111637758	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:111637758C>T	ENST00000502935.1	-	13	1360	c.1241_splice	c.e13+1	p.R414_splice	XPNPEP1_ENST00000322238.8_Splice_Site_p.R414_splice|XPNPEP1_ENST00000369680.4_Splice_Site_p.R371_splice|XPNPEP1_ENST00000369683.1_Splice_Site_p.R300_splice			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	371					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGATCCTTACCTGCGAAACTC	0.458000													34	53					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147485	26147485	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:26147485G>A	ENST00000331351.5	+	2	1679	c.1287G>A	c.(1285-1287)agG>agA	p.R429R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	429					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ACAGACTGAGGAAATTCTACA	0.483000													5	8					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670089	43670089	+	Silent	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:43670089T>C	ENST00000564079.1	+	5	669	c.429T>C	c.(427-429)atT>atC	p.I143I	TUBGCP4_ENST00000399460.3_Silent_p.I7I|TUBGCP4_ENST00000260383.7_Silent_p.I143I	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	143					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TAGAACAAATTAAAAGTCAAA	0.323000													38	65					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	240043	240043	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:240043G>A	ENST00000337351.4	-	9	1021	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	LUC7L_ENST00000293872.8_Missense_Mutation_p.R300W|LUC7L_ENST00000397780.1_Missense_Mutation_p.R247W|LUC7L_ENST00000397783.1_Missense_Mutation_p.R300W	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	300	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGGTGGCGCCGATGTCTATCT	0.622000													6	28					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904144	5904144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:5904144C>T	ENST00000378961.4	+	4	1558	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	452						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGAAAACCAGATGGACAA	0.537000													43	99					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048248	105048248	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:105048248C>T	ENST00000369849.4	+	3	1371	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	441	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAAGTCTCATCCACTGGGCTA	0.473000													20	91					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842559	14842559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:14842559C>T	ENST00000380881.4	-	10	2311	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	FREM1_ENST00000422223.2_Missense_Mutation_p.R498Q|FREM1_ENST00000380880.3_Missense_Mutation_p.R498Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	498			I -> V (in dbSNP:rs1353223).		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATCAAATATCCGGAAGACCAC	0.502000													49	39					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800741	185800741	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:185800741G>A	ENST00000302277.6	+	4	1212	c.618G>A	c.(616-618)ggG>ggA	p.G206G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	206						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGCCCAGGGGATTCACAGAC	0.423000													22	37					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54966504	54966504	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:54966504C>T	ENST00000243052.3	+	7	1150	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.F197F|PDE1B_ENST00000550620.1_Silent_p.F218F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	238	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCCATTGCTTCTTGCTCCGCA	0.517000													113	133					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170070203	170070203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:170070203G>A	ENST00000263816.3	-	36	6289	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2002					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCAGATTTGGAACATTATCT	0.368000													17	63					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49841245	49841245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49841245G>T	ENST00000535669.2	+	5	520	c.406G>T	c.(406-408)Gag>Tag	p.E136*	CD37_ENST00000598095.1_Nonsense_Mutation_p.E68*|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Nonsense_Mutation_p.E136*|CD37_ENST00000426897.2_Nonsense_Mutation_p.E68*|CD37_ENST00000596426.1_3'UTR			P11049	CD37_HUMAN	CD37 molecule	136						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CAACCCCGAGGAGACCGCGGC	0.627000													4	40					0.000602214	0.000605174	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35776358	35776358	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35776358G>A	ENST00000440995.2	+	29	4063		c.e29-1		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTGCAAATAGAAATAGCCAC	0.338000													15	35					0	0	1	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296236	7296236	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7296236G>A	ENST00000535512.1	-	9	1560	c.543C>T	c.(541-543)ggC>ggT	p.G181G	PLSCR3_ENST00000576362.1_Intron|PLSCR3_ENST00000324822.11_Silent_p.G181G|PLSCR3_ENST00000576201.1_Silent_p.G181G|PLSCR3_ENST00000574401.1_Silent_p.G181G|C17orf61-PLSCR3_ENST00000573331.1_3'UTR			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	181					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GTAGCACGTGGCCAATGGTGG	0.602000													52	184					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815737	23815737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:23815737C>T	ENST00000264867.2	-	8	1488	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	457					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCTCGGATTTCCTGGTCTTGG	0.507000													25	32					0	0	1	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293221	119293221	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:119293221G>A	ENST00000371388.3	+	2	570	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	127						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GCCGTCGGGGGGCTGGAGCCT	0.662000													9	15					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747630	143747630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:143747630G>A	ENST00000408906.2	+	1	170	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCCATCCTGGGGCTCATCTG	0.517000													35	39					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20166532	20166532	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:20166532C>T	ENST00000345530.3	-	10	1262	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.G383R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	383										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAATCTCCACAGGTAGTA	0.373000													7	32					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127411127	127411127	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:127411127G>A	ENST00000434178.2	-	8	1722	c.826C>T	c.(826-828)Cct>Tct	p.P276S	MGLL_ENST00000265052.5_Missense_Mutation_p.P286S|MGLL_ENST00000398104.1_Missense_Mutation_p.P276S|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398101.3_Missense_Mutation_p.P250S|MGLL_ENST00000453507.2_Missense_Mutation_p.P256S			Q99685	MGLL_HUMAN	monoglyceride lipase	276					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GTGACTTCAGGAAGCTCCTTG	0.537000													32	46					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002825	122002825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122002825G>A	ENST00000498619.1	+	7	2492	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*	CASR_ENST00000490131.1_Nonsense_Mutation_p.W675*|CASR_ENST00000296154.5_Nonsense_Mutation_p.W675*	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	675					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCCAGGACTGGACGTGCCGC	0.602000													42	91					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958097	57958097	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57958097G>A	ENST00000311591.3	+	1	192	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACACAGGCATGATCCTCCTGA	0.502000													8	31					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718290	48718290	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:48718290A>T	ENST00000294952.8	+	15	1737	c.1580A>T	c.(1579-1581)tAt>tTt	p.Y527F	PPP1R21_ENST00000281394.4_Missense_Mutation_p.Y527F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.Y527F	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	527										endometrium(2)|kidney(4)|lung(9)	15						GCTGCTGCCTATATGAAGTCT	0.393000													13	15					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113073115	113073115	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:113073115G>A	ENST00000316851.7	+	1	37	c.37G>A	c.(37-39)Gat>Aat	p.D13N	NCAM1_ENST00000401611.2_Missense_Mutation_p.D22N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	23					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCAGGTGGATATTGTTCC	0.398000													10	12					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959957	20959957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:20959957C>T	ENST00000261383.3	-	57	11190	c.11191G>A	c.(11191-11193)Gaa>Aaa	p.E3731K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3731					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAATTACATTCCCCTGGGGAC	0.498000													9	44					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966231	2966231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:2966231G>A	ENST00000575751.1	-	1	670	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TTGAAGGATGGTTCTGACAAT	0.488000													7	53					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53103940C>T	ENST00000408890.4	+	1	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701000													28	33					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235932	23235932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:23235932G>A	ENST00000532223.1	+	2	536	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	IGLL5_ENST00000531372.1_Intron|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000526893.1_Missense_Mutation_p.G87R			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	87						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTGGCCCCGGGGGTTTTGGTC	0.632000													17	7					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146726560	146726560	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:146726560A>T	ENST00000369258.4	+	3	296	c.276A>T	c.(274-276)ttA>ttT	p.L92F	CHD1L_ENST00000431239.1_Missense_Mutation_p.L92F|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	92	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGGAAGATTAAATGATGAAG	0.378000													24	32					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3346738	3346738	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:3346738C>T	ENST00000382004.3	-	4	455	c.144G>A	c.(142-144)caG>caA	p.Q48Q	RFX3_ENST00000302303.1_Silent_p.Q48Q|RFX3_ENST00000381984.2_Silent_p.Q48Q|RFX3_ENST00000358730.2_Silent_p.Q48Q	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	48					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATGTTGTACCTGCTGCACAG	0.408000													29	17					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51922375	51922375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:51922375C>T	ENST00000524365.1	+	7	1352	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	SERPINE3_ENST00000521255.1_Nonsense_Mutation_p.Q243*|SERPINE3_ENST00000400389.4_Nonsense_Mutation_p.Q243*			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	243					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGCAGGCCATCAGGTGGGGGT	0.597000													6	4					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601667	38601667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38601667C>T	ENST00000413689.1	-	23	4409	c.4216G>A	c.(4216-4218)Ggg>Agg	p.G1406R	SCN5A_ENST00000451551.2_Missense_Mutation_p.G1352R|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1405R|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1406R|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1405R|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1352R|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1352R|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1406R|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1405R|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1406R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1406			G -> R (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TACCCGGCCCCCACGTTGTCA	0.522000													9	11					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961858	70961858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:70961858C>T	ENST00000357250.6	-	28	1995	c.1837G>A	c.(1837-1839)Gga>Aga	p.G613R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G370R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G370R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	613	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCACCTCTCCTGGAGGCCCC	0.488000													111	133					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701994	169701994	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169701994G>A	ENST00000333360.7	-	3	322	c.183C>T	c.(181-183)tcC>tcT	p.S61S	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Silent_p.S61S|SELE_ENST00000367782.4_Silent_p.S61S|SELE_ENST00000367774.1_Silent_p.S61S|SELE_ENST00000367781.4_Silent_p.S61S|SELE_ENST00000367779.4_Silent_p.S61S|SELE_ENST00000367776.1_Silent_p.S61S|SELE_ENST00000367775.1_Silent_p.S61S|SELE_ENST00000367780.4_Silent_p.S61S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	61	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGCTCAATATGGAGTTTAGGT	0.423000													35	41					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59268218	59268218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:59268218G>A	ENST00000320743.3	-	17	3119	c.2833C>T	c.(2833-2835)Cat>Tat	p.H945Y	LRIG3_ENST00000379141.4_Missense_Mutation_p.H885Y	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	945						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)			CTACCTGTATGATATGTTTCA	0.423000			T	ROS1	NSCLC								28	67					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99148129	99148129	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:99148129C>T	ENST00000370992.4	-	8	1008	c.897G>A	c.(895-897)aaG>aaA	p.K299K	RRP12_ENST00000315563.6_Silent_p.K199K|RRP12_ENST00000414986.1_Silent_p.K238K|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	299						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGTGGCCTCCTTGGAGCCTG	0.637000													11	45					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805889	157805889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:157805889C>T	ENST00000368174.4	-	3	208	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	38	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E38*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCCACCTCCACCCGCCCT	0.632000													16	63					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284745	42284745	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:42284745C>T	ENST00000294964.5	+	7	1579	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	467	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CCCCCCAGGTCGGCAGCTGGT	0.532000													5	14					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216253	20216253	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20216253C>T	ENST00000331723.1	+	1	667	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTATCATCCTGATCACCCT	0.507000													10	105					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10558352	10558352	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10558352G>A	ENST00000583535.1	-	3	117	c.30C>T	c.(28-30)ttC>ttT	p.F10F	MYH3_ENST00000226209.7_Silent_p.F10F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	10	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGCTATGCCGAACACTTCCA	0.562000													40	56					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49485129	49485129	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49485129T>C	ENST00000266991.2	-	2	653	c.347A>G	c.(346-348)aAc>aGc	p.N116S	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	116					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						GGGCCACATGTTCATCACGGC	0.607000													21	23					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733993	179733993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179733993C>T	ENST00000420890.2	-	15	2362	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E174K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	174							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTAACTCCTCTGATTCTTTC	0.338000													19	36					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744022	2744022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:2744022C>A	ENST00000510267.1	-	6	1358	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Nonsense_Mutation_p.E418*|TNIP2_ENST00000503235.1_Nonsense_Mutation_p.E335*	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	418						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGAGCTCTTCCCCTTGCTCG	0.677000													6	13					1	1	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059754	152059754	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152059754G>A	ENST00000368806.1	-	3	468	c.404C>T	c.(403-405)cCt>cTt	p.P135L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	135							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTCCTGAAGGAAGCATCCT	0.483000													42	35					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118812	55118812	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55118812G>A	ENST00000414150.2	+	3	491	c.213G>A	c.(211-213)gaG>gaA	p.E71E	MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000421030.2_Silent_p.E71E|MROH7_ENST00000395690.2_Silent_p.E71E|MROH7_ENST00000339553.5_Silent_p.E71E					maestro heat-like repeat family member 7																		TCTCAGGGGAGGCCTCAGGCC	0.547000													24	43					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605822	77605822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:77605822G>A	ENST00000319374.4	-	2	462	c.260C>T	c.(259-261)aCt>aTt	p.T87I	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	87						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGGGCATGGAGTCTTCCTGGC	0.622000													8	5					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175264	159175264	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159175264C>T	ENST00000537147.1	+	3	878	c.35C>T	c.(34-36)cCc>cTc	p.P12L	DARC_ENST00000368122.2_Missense_Mutation_p.P12L|DARC_ENST00000368121.2_Missense_Mutation_p.P14L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	12					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GAGCTCTCCCCCTCAACTGAG	0.542000													21	31					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038093	32038093	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32038093G>A	ENST00000375244.3	-	14	5290	c.5089C>T	c.(5089-5091)Cct>Tct	p.P1697S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1697S			P22105	TENX_HUMAN	tenascin XB	1779	Fibronectin type-III 9.				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						TGGCCCTCAGGAACCGTCCAG	0.662000													125	134					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982982	106982982	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106982982T>A	ENST00000369701.3	+	20	3070	c.2843T>A	c.(2842-2844)tTc>tAc	p.F948Y	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	948						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTACCTATTTCTGGTGGTTC	0.443000													80	94					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047157	48047157	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:48047157C>T	ENST00000311798.1	-	8	652	c.600G>A	c.(598-600)agG>agA	p.R200R	SSX5_ENST00000376923.1_Silent_p.R159R|SSX5_ENST00000347757.1_Silent_p.R159R	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CATGTTTCCCCCTTTTGGGTC	0.483000													127	53					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651440	15651440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15651440G>A	ENST00000269703.2	+	8	1050	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R284Q	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	284						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAACGGCGGCGGGCACTGCGT	0.627000													17	65					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936406	4936406	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4936406G>A	ENST00000322013.3	-	1	516	c.488C>T	c.(487-489)cCa>cTa	p.P163L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGGTAATGGAAAAATGAG	0.473000													38	20					0	0	1	0	0
GRAP	10750	broad.mit.edu	37	17	18927554	18927554	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:18927554G>A	ENST00000284154.5	-	4	1152	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GRAP_ENST00000395635.1_Silent_p.L119L|GRAP_ENST00000573099.1_Intron	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	148	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					TCGTCGCGCAGGAAGATCTGC	0.627000													3	3					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84231902	84231902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:84231902C>T	ENST00000405413.2	-	6	951	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	HPSE_ENST00000513463.1_Missense_Mutation_p.R214Q|HPSE_ENST00000512196.1_Missense_Mutation_p.R272Q|HPSE_ENST00000311412.5_Missense_Mutation_p.R272Q	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	272	Heparin/HS-binding.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CGTCTTTCTTCGAGGCTGACC	0.408000													37	124					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717915	45717915	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45717915G>A	ENST00000327619.5	+	8	1073	c.699G>A	c.(697-699)gcG>gcA	p.A233A	EYA2_ENST00000317304.6_Silent_p.A233A|EYA2_ENST00000357410.3_Silent_p.A233A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	233					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACACCAGCGAAAGAGGGAG	0.582000													25	56					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17531364	17531364	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:17531364G>A	ENST00000005226.7	-	18	1551	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAAGGCGGGGGAGGCGGGGGC	0.582000													40	57					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896978	227896978	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:227896978C>T	ENST00000396625.3	-	39	3799	c.3592G>A	c.(3592-3594)Ggg>Agg	p.G1198R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1198R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1198	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGTGGCCCCACATCATGC	0.493000													18	19					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3131044	3131044	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:3131044C>T	ENST00000359864.2	+	10	948	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TEAD4_ENST00000397122.2_Missense_Mutation_p.S124F|TEAD4_ENST00000358409.2_Missense_Mutation_p.S210F	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	253					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATTGGCCAGTCCAGCCCAAGC	0.557000													38	39					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049474	90049474	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:90049474G>A	ENST00000405460.2	+	54	11301	c.11205G>A	c.(11203-11205)gtG>gtA	p.V3735V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3735	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGTTGTGATTGTAACCC	0.383000													27	41					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69708039	69708039	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:69708039G>A	ENST00000409085.4	-	19	2898	c.2522C>T	c.(2521-2523)cCc>cTc	p.P841L	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	841						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GAGGCGCTGGGGAACTGGGGG	0.537000													3	16					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278801	92278801	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92278801C>T	ENST00000435962.2	-	3	479	c.156G>A	c.(154-156)aaG>aaA	p.K52K	TC2N_ENST00000340892.5_Silent_p.K52K|TC2N_ENST00000360594.5_Silent_p.K52K|TC2N_ENST00000556018.1_Silent_p.K52K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	52						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CAAGCTGAGGCTTTACAGAAA	0.378000													20	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061715	9061715	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9061715G>A	ENST00000397910.4	-	3	25934	c.25731C>T	c.(25729-25731)tcC>tcT	p.S8577S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8579	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						CTGGTAATGTGGAGAAAAAAG	0.532000													13	43					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98182396	98182396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:98182396C>T	ENST00000357947.3	-	6	952	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	243	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGCCCAGCTCGTGAGCCACA	0.552000													12	42					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354490	38354490	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38354490G>A	ENST00000273173.4	+	5	1036	c.944_splice	c.e5-1	p.W315_splice	SLC22A14_ENST00000448498.1_Splice_Site_p.W315_splice	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	315						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGCCACGCAGGATTCTCCCGG	0.602000													7	7					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105270	60105270	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60105270C>T	ENST00000300182.4	+	2	269	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	68						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGGTGGGTTTCATTCTCCTGT	0.483000													42	89					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298797	58298797	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:58298797C>T	ENST00000377918.3	+	4	2875	c.2849C>T	c.(2848-2850)tCt>tTt	p.S950F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	950					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTTGGTCATTCTGACAGGTGC	0.423000													32	26					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586161	115586161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:115586161C>T	ENST00000371900.4	+	11	1511	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	475					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTACTGGGTTCATCTGATTGA	0.308000													34	10					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909125	139909125	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:139909125G>A	ENST00000297183.6	+	29	6718	c.6594G>A	c.(6592-6594)aaG>aaA	p.K2198K	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2198K|ANKHD1_ENST00000360839.2_Silent_p.K2198K|ANKHD1_ENST00000544120.1_Silent_p.K581K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAAATAAGTCTTTGCCAC	0.473000													56	89					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070051	55070051	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55070051G>A	ENST00000371316.3	+	12	1267	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L395L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	395	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCTCCTCCTTGAAGATGCTTG	0.552000													11	54					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644978	38644978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38644978G>A	ENST00000254051.6	-	3	841	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	228	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S228F(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGCTGGGGGAATTTGGGGG	0.647000													27	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612218	179612218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179612218G>A	ENST00000360870.5	-	46	15131	c.14909C>T	c.(14908-14910)tCc>tTc	p.S4970F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1083	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACCAATGGAAATGTCAGA	0.403000													18	62					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796851	93796851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93796851C>T	ENST00000315765.9	+	3	601	c.593C>T	c.(592-594)tCt>tTt	p.S198F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	198	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACATCTGCTCTGGGCTAATT	0.512000													36	75					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31608042	31608042	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:31608042C>T	ENST00000404765.2	-	24	3469	c.3180G>A	c.(3178-3180)cgG>cgA	p.R1060R	BAG6_ENST00000362049.6_Silent_p.R1024R|BAG6_ENST00000211379.5_Silent_p.R1024R|BAG6_ENST00000375976.4_Silent_p.R1024R|BAG6_ENST00000375964.6_Silent_p.R1030R|BAG6_ENST00000439687.2_Silent_p.R850R			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1030					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						GTTTCACCTTCCGCTGGCTCT	0.522000													215	302					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793892	34793892	+	Silent	SNP	C	C	T	rs142325229	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:34793892C>T	ENST00000290219.6	+	3	960	c.312C>T	c.(310-312)ggC>ggT	p.G104G	IFNGR2_ENST00000381995.1_Silent_p.G123G|IFNGR2_ENST00000405436.1_Silent_p.G25G	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	104	Fibronectin type-III 1.				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)	CCTCAGCAGGCTTCCCAATGG	0.512000													47	71					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007139	94007139	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94007139G>A	ENST00000553484.1	+	13	1640	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N	UNC79_ENST00000256339.4_Missense_Mutation_p.D319N|UNC79_ENST00000555664.1_Missense_Mutation_p.D496N|UNC79_ENST00000393151.2_Missense_Mutation_p.D496N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	496						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGATAAACACGATCAGAGGCT	0.438000													37	34					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472126	71472126	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:71472126C>T	ENST00000322937.6	+	13	1126	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	AMBN_ENST00000449493.2_Silent_p.F326F	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	341					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACCCAGCTTTCCTTACAGAGC	0.587000													10	21					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70189094	70189094	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70189094G>A	ENST00000550536.1	+	6	1363	c.906G>A	c.(904-906)gtG>gtA	p.V302V	RAB3IP_ENST00000247833.7_Silent_p.V286V|RAB3IP_ENST00000378815.6_Silent_p.V286V|RAB3IP_ENST00000325555.9_Silent_p.V80V|RAB3IP_ENST00000362025.5_Silent_p.V302V|RAB3IP_ENST00000553099.1_Silent_p.V80V|RAB3IP_ENST00000551641.1_Silent_p.V80V|RAB3IP_ENST00000483530.2_Silent_p.V286V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	302					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTCAGTGTGATACAGCCAA	0.443000													10	14					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101095818	101095818	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101095818C>T	ENST00000376865.1	+	6	272	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	89					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GTTGCAGTTTCCTCCAGTGCA	0.527000													31	33					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85905523	85905523	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:85905523C>T	ENST00000304195.3	-	13	1396	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	FRMD3_ENST00000376438.1_Missense_Mutation_p.G397D|FRMD3_ENST00000376434.1_Missense_Mutation_p.G203D	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	397						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTACCCTCACCCAGAGGAAG	0.507000													17	78					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284446	130284446	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:130284446C>T	ENST00000257359.6	-	5	2252	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	516	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCACTTCCTCCTCAGGTAGA	0.627000													31	26					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340486	7340486	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:7340486G>A	ENST00000486284.1	+	3	1126	c.852G>A	c.(850-852)gtG>gtA	p.V284V	GRM7_ENST00000357716.4_Silent_p.V284V|GRM7_ENST00000403881.1_Silent_p.V284V|GRM7_ENST00000389336.4_Silent_p.V284V|GRM7_ENST00000402647.2_Silent_p.V284V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	284					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCCGTCGTGATTTTTGCCA	0.453000													20	38					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29040750	29040750	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:29040750C>T	ENST00000373816.1	+	10	1295	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	GMEB1_ENST00000294409.2_Missense_Mutation_p.P396L|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.P386L	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCTCCTCCTGTCCAGCAG	0.567000													27	32					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958698	121958698	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:121958698G>A	ENST00000379692.4	-	4	954	c.428C>T	c.(427-429)tCc>tTc	p.S143F	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	143	Poly-Ser.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ATATAAACCGGATGGGGAACT	0.408000													31	45					0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065605	3065605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3065605C>T	ENST00000396925.1	-	3	846	c.418G>A	c.(418-420)Gcg>Acg	p.A140T	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.A140T			P56747	CLD6_HUMAN	claudin 6	140					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ATGGCATGCGCCGTCCAGCAC	0.627000													4	20					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733730	35733730	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:35733730A>G	ENST00000400445.3	+	22	3956	c.3422A>G	c.(3421-3423)aAt>aGt	p.N1141S	NBEA_ENST00000310336.4_Missense_Mutation_p.N1141S|NBEA_ENST00000540320.1_Missense_Mutation_p.N1141S|NBEA_ENST00000379939.2_Missense_Mutation_p.N1141S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1141						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACCTTCCCAATAGTAGTACA	0.333000													6	14					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702801	154702801	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:154702801C>T	ENST00000274063.4	-	3	974	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	230	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTCAGGTCCCTTTCGGACA	0.478000													16	76					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003886	228003886	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:228003886C>T	ENST00000366757.3	+	2	268	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACGCAGGCCTCCACGTCTG	0.662000													23	91					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086745	56086745	+	Silent	SNP	C	C	T	rs142409842		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56086745C>T	ENST00000257880.7	-	22	3078	c.2859G>A	c.(2857-2859)agG>agA	p.R953R	ITGA7_ENST00000555728.1_Silent_p.R953R|ITGA7_ENST00000452168.2_Silent_p.R816R|ITGA7_ENST00000394230.2_Silent_p.R913R|ITGA7_ENST00000347027.6_Silent_p.R903R|ITGA7_ENST00000257879.6_Silent_p.R909R|ITGA7_ENST00000394229.2_Silent_p.R909R|ITGA7_ENST00000553804.1_Silent_p.R913R			Q13683	ITA7_HUMAN	integrin, alpha 7	953	Poly-Arg.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R909R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCTCCTATCCCTACTGTCCA	0.617000													4	25					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414563	46414563	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46414563A>T	ENST00000343801.4	+	3	527	c.170A>T	c.(169-171)aAc>aTc	p.N57I	CCR5_ENST00000292303.4_Missense_Mutation_p.N57I|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.N57I	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	57					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATCCTGATAAACTGCAAAAGG	0.502000													64	140					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977397	46977397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:46977397C>T	ENST00000371253.2	-	11	1989	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	GPR110_ENST00000283297.5_Missense_Mutation_p.G395R|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	592					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATACCCAGTCCCACATAGGTG	0.443000													17	59					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446318	29446318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:29446318C>T	ENST00000544604.2	+	8	2324	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q617*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q617*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q617*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	717						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTGCGAGCCCCAGCCCTCCCC	0.726000													4	5					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2794989	2794989	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:2794989C>T	ENST00000399655.1	+	44	5926	c.5661C>T	c.(5659-5661)ttC>ttT	p.F1887F	CACNA1C_ENST00000347598.4_Silent_p.F1935F|CACNA1C_ENST00000327702.7_Silent_p.F1922F|CACNA1C_ENST00000399603.1_Silent_p.F1887F|CACNA1C_ENST00000399621.1_Silent_p.F1906F|CACNA1C_ENST00000399591.1_Silent_p.F1895F|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Silent_p.F1906F|CACNA1C_ENST00000406454.3_Silent_p.F1958F|CACNA1C_ENST00000399641.1_Silent_p.F1887F|CACNA1C_ENST00000399617.1_Silent_p.F1922F|CACNA1C_ENST00000399637.1_Silent_p.F1906F|CACNA1C_ENST00000399629.1_Silent_p.F1904F|CACNA1C_ENST00000399634.1_Silent_p.F1958F|CACNA1C_ENST00000399597.1_Silent_p.F1887F|CACNA1C_ENST00000344100.3_Silent_p.F1928F|CACNA1C_ENST00000335762.5_Silent_p.F1912F|CACNA1C_ENST00000399595.1_Silent_p.F1895F|CACNA1C_ENST00000399601.1_Silent_p.F1887F|CACNA1C_ENST00000399606.1_Silent_p.F1907F|CACNA1C_ENST00000399644.1_Silent_p.F1887F|CACNA1C_ENST00000399638.1_Silent_p.F1915F|CACNA1C_ENST00000399649.1_Silent_p.F1893F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1970					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGAGGGGTTTCCTCCGCTCTG	0.557000													9	14					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216279657	216279657	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:216279657A>G	ENST00000354785.4	-	13	2213	c.1844T>C	c.(1843-1845)tTt>tCt	p.F615S	FN1_ENST00000323926.6_Missense_Mutation_p.F615S|FN1_ENST00000357009.2_Missense_Mutation_p.F615S|FN1_ENST00000359671.1_Missense_Mutation_p.F615S|FN1_ENST00000426059.1_Missense_Mutation_p.F615S|FN1_ENST00000345488.5_Missense_Mutation_p.F615S|FN1_ENST00000336916.4_Missense_Mutation_p.F615S|FN1_ENST00000346544.3_Missense_Mutation_p.F615S|FN1_ENST00000356005.4_Missense_Mutation_p.F615S|FN1_ENST00000446046.1_Missense_Mutation_p.F615S|FN1_ENST00000421182.1_Missense_Mutation_p.F615S|FN1_ENST00000357867.4_Missense_Mutation_p.F615S|FN1_ENST00000432072.2_Missense_Mutation_p.F615S|FN1_ENST00000443816.1_Missense_Mutation_p.F615S			P02751	FINC_HUMAN	fibronectin 1	615	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAGTGATAAATACTTCGAC	0.438000													23	15					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756999	71756999	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:71756999G>A	ENST00000318442.5	-	2	815	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGTTGGGAAGGCCGTGGTTT	0.567000													126	177					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42454643	42454643	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:42454643G>A	ENST00000318006.5	-	22	2374	c.2212C>T	c.(2212-2214)Ccc>Tcc	p.P738S	VPS39_ENST00000348544.4_Missense_Mutation_p.P749S	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	749					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAATGCTGGGGGGCGACAGG	0.587000													15	57					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658765	97658765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:97658765C>T	ENST00000370192.3	-	20	2582	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	828					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGTAGTCTTCGATCACAGTG	0.438000													22	24					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648793	34648793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34648793G>A	ENST00000537011.1	+	8	2966	c.2584G>A	c.(2584-2586)Gat>Aat	p.D862N	NUTM1_ENST00000333756.4_Missense_Mutation_p.D834N|NUTM1_ENST00000438749.3_Missense_Mutation_p.D852N					NUT midline carcinoma, family member 1																		GCATCCCAGTGATCTGTGGGC	0.512000													15	83					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651732	651732	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:651732G>A	ENST00000292363.5	-	4	477	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	108							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGCTCTCAGGGTCCCTGCCG	0.716000													4	22					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025099	10025099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:10025099C>T	ENST00000378380.3	+	4	933	c.604C>T	c.(604-606)Cga>Tga	p.R202*	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.R202*	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.R202*(1)									GGAAATAGTTCGAGGCATATT	0.438000													54	85					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59025623	59025623	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:59025623T>C	ENST00000594051.1	-	3	1814	c.1334A>G	c.(1333-1335)tAc>tGc	p.Y445C	ZBTB45_ENST00000354590.3_Missense_Mutation_p.Y445C|ZBTB45_ENST00000600990.1_Missense_Mutation_p.Y445C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TTTGAGCAGGTAGTCGCGTAG	0.642000													7	11					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109523518	109523518	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:109523518G>A	ENST00000257548.5	+	13	1429	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	USP30_ENST00000392784.2_Missense_Mutation_p.G415R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	446					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGTCCACCATGGAGACATGCA	0.493000													19	64					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79056047	79056047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:79056047C>T	ENST00000388820.4	-	22	4944	c.4734G>A	c.(4732-4734)tgG>tgA	p.W1578*		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1578	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCACCTGGCCCCAGGGCCCCA	0.692000													12	11					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:47186763C>T	ENST00000447411.1	-	2	298	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G31E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000													64	83					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35748950	35748950	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:35748950C>T	ENST00000400441.3	-	17	2185	c.2186G>A	c.(2185-2187)gGg>gAg	p.G729E	MROH8_ENST00000441008.2_Missense_Mutation_p.G715E|MROH8_ENST00000217333.8_Missense_Mutation_p.G558E					maestro heat-like repeat family member 8																		TTTATCATTCCCTCGGTTAAG	0.433000													14	26					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593723	3593723	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3593723C>T	ENST00000550383.1	-	5	719	c.531G>A	c.(529-531)ccG>ccA	p.P177P	P2RX5_ENST00000225328.5_Silent_p.P177P|P2RX5_ENST00000435558.1_Silent_p.P177P|P2RX5_ENST00000345901.3_Silent_p.P153P|P2RX5_ENST00000552276.1_Silent_p.P177P|P2RX5_ENST00000552050.1_Silent_p.P117P|P2RX5_ENST00000551178.1_Silent_p.P153P|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Silent_p.P177P																							CCACTCACTCCGGCCTGGAGC	0.667000													4	3					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100118199	100118199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100118199G>A	ENST00000372966.3	-	4	491	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	NOX1_ENST00000372960.4_Missense_Mutation_p.H59Y|NOX1_ENST00000217885.5_Missense_Mutation_p.H96Y|NOX1_ENST00000372964.1_Missense_Mutation_p.H96Y	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	96	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGAGGTTGTGATCCAATTGC	0.448000													92	29					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878601	185878601	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:185878601A>G	ENST00000271588.4	+	5	983	c.754A>G	c.(754-756)Agt>Ggt	p.S252G	HMCN1_ENST00000367492.2_Missense_Mutation_p.S252G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	252					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTCTTTGAGTGGGCCTTC	0.368000													12	24					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101097621	101097621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101097621C>T	ENST00000376865.1	+	8	413	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	136					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ACCCTTTTTCCTTTTCAGGGT	0.448000													21	95					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572350	41572350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:41572350C>T	ENST00000263253.7	+	30	6098	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1627	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R1627W(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGGATGGTCGGGATGCGTT	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				43	34					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794183	111794183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:111794183C>T	ENST00000452346.2	+	15	1802	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.S474F			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	600					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCAGGAGTTCCTCCGCCCTT	0.547000													50	88					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9785081	9785081	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:9785081C>T	ENST00000304374.2	+	1	1824	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	476					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGAATGGATTCCATTAAACTG	0.498000													13	15					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725604	28725604	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28725604G>A	ENST00000257197.3	-	7	1170	c.909C>T	c.(907-909)atC>atT	p.I303I	DSC1_ENST00000257198.5_Silent_p.I303I|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	303	Cadherin 2.				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)			TAGTTGTGGTGATGACACCGG	0.378000													24	45					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321468	52321468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:52321468C>T	ENST00000356297.4	-	17	2816	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E906K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	906					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCTGGGATTCCCGCTCCGAG	0.582000													15	32					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022398	61022398	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61022398C>T	ENST00000373867.3	-	11	1248	c.783G>A	c.(781-783)aaG>aaA	p.K261K	FAM13C_ENST00000422313.2_Silent_p.K344K|FAM13C_ENST00000442566.3_Silent_p.K365K|FAM13C_ENST00000373868.2_Silent_p.K344K|FAM13C_ENST00000435852.2_Silent_p.K344K|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Silent_p.K365K|FAM13C_ENST00000468840.2_Silent_p.K261K	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	344										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGCTTTAGCTTTAGTTCTA	0.448000													8	42					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60781027	60781027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60781027G>A	ENST00000313421.7	+	7	1469	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	CD6_ENST00000352009.5_Missense_Mutation_p.G428E|CD6_ENST00000346437.4_Missense_Mutation_p.G428E|CD6_ENST00000344028.5_Missense_Mutation_p.G428E|CD6_ENST00000452451.2_Missense_Mutation_p.G428E|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	428					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGAATTAAAGGAAAATATGGT	0.532000													64	113					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472159	134472159	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:134472159C>T	ENST00000319914.5	-	9	1898	c.871G>A	c.(871-873)Gca>Aca	p.A291T	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.A291T|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.A291T|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.A291T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	291					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTGCTGTCTGCCCCGAAGCCG	0.572000													5	161					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120416	21120416	+	Missense_Mutation	SNP	C	C	T	rs45461595		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:21120416C>T	ENST00000377122.4	-	15	1942	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	516					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGCCATCTCGGATGCTTTC	0.433000													14	45					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649879	57649879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57649879C>T	ENST00000269834.1	-	3	488	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	35	KRAB.				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)		AGCATCACATCCCTGTACAAG	0.537000													9	51					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141008852	141008852	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:141008852G>A	ENST00000277549.5	+	41	5710	c.3141G>A	c.(3139-3141)aaG>aaA	p.K1047K	CACNA1B_ENST00000371355.4_Silent_p.K1854K|CACNA1B_ENST00000371357.1_Silent_p.K1852K|CACNA1B_ENST00000371363.1_Silent_p.K1851K|CACNA1B_ENST00000371372.1_Silent_p.K1853K|CACNA1B_ENST00000277551.2_Silent_p.K1853K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1853					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGTGGGGAAGGTTTATGCAG	0.517000													3	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473425	179473425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179473425C>T	ENST00000589042.1	-	274	52537	c.52313G>A	c.(52312-52314)gGa>gAa	p.G17438E	TTN_ENST00000359218.5_Missense_Mutation_p.G8498E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8565E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15797E|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8373E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14870E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15797	Fibronectin type-III 26.						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)			GTACTCTTTTCCTTCAATCAG	0.393000													8	22					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	186997827	186997827	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:186997827G>A	ENST00000296795.2	+	2	158	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	18					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCCTTTGGGATGCTGTGTG	0.458000													19	65					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474550	140474550	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140474550G>A	ENST00000194155.4	+	1	324	c.176G>A	c.(175-177)gGa>gAa	p.G59E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		59	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGAGATAGGAGAACTTGCT	0.498000													33	44					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897355	61897355	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61897355C>T	ENST00000394818.3	+	4	558	c.356C>T	c.(355-357)tCc>tTc	p.S119F	INCENP_ENST00000278849.4_Missense_Mutation_p.S119F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	119					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGAACGGCTCCGTCCTGCGG	0.642000													23	39					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374047	31374047	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31374047G>A	ENST00000268296.4	+	12	1453	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	ITGAX_ENST00000562522.1_Silent_p.R444R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	444					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCAATGGAGGATGAAGGCCG	0.657000													17	21					0	0	1	0	0
EBF4	57593	broad.mit.edu	37	20	2688609	2688609	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2688609G>A	ENST00000380648.4	+	6	687	c.419G>A	c.(418-420)gGg>gAg	p.G140E	EBF4_ENST00000342725.4_Missense_Mutation_p.G144E	NM_001110514.1	NP_001103984.1	Q9BQW3	COE4_HUMAN	early B-cell factor 4	144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding										ATCTATGAGGGGCAGGACAAG	0.612000													5	4					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839674	62839674	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:62839674G>A	ENST00000536311.1	+	7	1489	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R375R			Q01538	MYT1_HUMAN	myelin transcription factor 1	375					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGATGACCCGGGGAAACCTGG	0.632000													11	45					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1652420	1652420	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:1652420G>A	ENST00000426508.2	-	4	683	c.320C>T	c.(319-321)aCc>aTc	p.T107I	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	107										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACGGAGCACGGTGATGTCGGC	0.587000													11	17					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728360	50728360	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:50728360G>A	ENST00000449103.1	-	3	794	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PLXNB2_ENST00000359337.4_Silent_p.F218F			O15031	PLXB2_HUMAN	plexin B2	218	Sema.				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)		AGGCCGCCACGAACTGCTGTG	0.632000													16	17					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538558	31538558	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31538558G>A	ENST00000286808.3	-	1	413	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	126					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCGTCAGGATGAAGAGGACTC	0.512000													29	65					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127828159	127828159	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:127828159G>A	ENST00000316724.5	-	4	696	c.285C>T	c.(283-285)ccC>ccT	p.P95P	BIN1_ENST00000393040.3_Silent_p.P95P|BIN1_ENST00000352848.3_Silent_p.P95P|BIN1_ENST00000259238.4_Silent_p.P95P|BIN1_ENST00000376113.2_Silent_p.P95P|BIN1_ENST00000351659.3_Silent_p.P95P|BIN1_ENST00000409400.1_Silent_p.P95P|BIN1_ENST00000393041.3_Silent_p.P95P|BIN1_ENST00000346226.3_Silent_p.P95P|BIN1_ENST00000348750.4_Silent_p.P95P|BIN1_ENST00000357970.3_Silent_p.P95P	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	95	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CATCCCTGCCGGGCCAATCGG	0.602000													33	109					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329347	152329347	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152329347C>T	ENST00000388718.5	-	3	987	c.915G>A	c.(913-915)ggG>ggA	p.G305G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	305	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTTCCTTGCCCTCCAAATC	0.478000													69	82					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829465	61829465	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61829465C>T	ENST00000280772.1	-	37	11365	c.11174G>A	c.(11173-11175)gGa>gAa	p.G3725E	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3725					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGAAATTCCCATTTTTAT	0.463000													83	109					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145287	48145287	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48145287G>A	ENST00000418331.2	+	5	1091	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PTPRJ_ENST00000440289.2_Missense_Mutation_p.E247K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	247	Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAAGCCATGAGGAGTTGAC	0.512000													25	34					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132833929	132833929	+	Missense_Mutation	SNP	C	C	T	rs145280221	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:132833929C>T	ENST00000370818.3	-	4	1605	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	GPC3_ENST00000543339.1_Missense_Mutation_p.R333Q|GPC3_ENST00000394299.2_Missense_Mutation_p.R410Q	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	387						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCACCTTCTTCGGCTGGATAA	0.318000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				35	9					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688747	3688747	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3688747C>A	ENST00000250699.2	-	4	681	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	CHRNA10_ENST00000534359.1_Silent_p.A21A	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	204					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ATGCCCAGCACGCGCCACTCC	0.736000													7	8					1.12685e-05	1.13574e-05	1	1	0
AMPD1	270	broad.mit.edu	37	1	115226943	115226943	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:115226943G>A	ENST00000369538.3	-	4	558	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	AMPD1_ENST00000353928.6_Missense_Mutation_p.R142W|AMPD1_ENST00000520113.2_Missense_Mutation_p.R175W	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	142					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATAGTGCCCGATACAGACCT	0.413000													17	21					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52584443	52584443	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:52584443G>A	ENST00000356770.4	-	27	4632	c.4630C>T	c.(4630-4632)Ctg>Ttg	p.L1544L	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Silent_p.L1594L|PBRM1_ENST00000409057.1_Silent_p.L1576L|PBRM1_ENST00000409767.1_Silent_p.L1539L|PBRM1_ENST00000394830.3_Silent_p.L1524L|PBRM1_ENST00000337303.4_Silent_p.L1524L|PBRM1_ENST00000296302.7_Silent_p.L1631L|PBRM1_ENST00000410007.1_Silent_p.L1551L			Q86U86	PB1_HUMAN	polybromo 1	1631	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACCTGCCAGTGTCTGATCC	0.453000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								16	27					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561731	14561731	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14561731C>T	ENST00000273083.3	-	0	981							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGCAGTGTTCCATGCTGGTG	0.647000													15	27					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149475059	149475059	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:149475059G>A	ENST00000378016.2	+	0	760							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)			GGGACCCGAGGAGGTGCTGAT	0.617000													12	28					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33039749	33039749	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:33039749A>C	ENST00000242209.4	+	8	1418	c.1249A>C	c.(1249-1251)Aat>Cat	p.N417H	FKBP9_ENST00000538443.1_Missense_Mutation_p.N279H|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.N185H|FKBP9_ENST00000538336.1_Missense_Mutation_p.N470H	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	417	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAAAACTTACAATATTGTTCT	0.473000													21	100					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923601	189923601	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:189923601C>T	ENST00000374866.3	-	32	2378	c.2104G>A	c.(2104-2106)Gga>Aga	p.G702R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	702					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAACTGCTCCGGGATCTCCA	0.358000													10	13					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29652877	29652877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:29652877C>A	ENST00000358273.4	+	37	5258	c.4875C>A	c.(4873-4875)taC>taA	p.Y1625*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y1604*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1625	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Y1625*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCTGATATACCATGTCTTAC	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	38					1.41504e-22	1.44039e-22	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25594645	25594645	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25594645C>T	ENST00000329474.6	+	32	3377	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1003	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTTTGCAGGTCTGTGCTGCCA	0.393000													20	49					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141764245	141764245	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:141764245C>T	ENST00000475668.2	+	37	4461	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	MGAM_ENST00000549489.2_Silent_p.I1469I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1469	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCAGCAGATCCTCCCAGACG	0.582000													3	10					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449895	147449895	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147449895C>T	ENST00000359874.3	+	3	164	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	SPINK5_ENST00000256084.7_Missense_Mutation_p.H31Y|SPINK5_ENST00000398454.1_Missense_Mutation_p.H31Y	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	31	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATGTGCCATGAATTTCA	0.294000													13	42					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109520	21109520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21109520C>T	ENST00000320704.3	-	1	330	c.331G>A	c.(331-333)Gcc>Acc	p.A111T		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AACTCGGAGGCCCCGAGAAAG	0.493000													13	54					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526798	234526798	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234526798C>T	ENST00000373450.4	+	1	508	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTTTCTTGATCCTTTTGATGC	0.393000													29	125					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180858	22180858	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22180858G>A	ENST00000390424.2	+	0	140																											AGCTGTGGTGGAAATCTTCTG	0.458000													59	70					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165076	31165076	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:31165076C>T	ENST00000349752.5	-	9	1561	c.922G>A	c.(922-924)Gag>Aag	p.E308K	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.E313K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E275K|GALNT14_ENST00000420311.2_Missense_Mutation_p.E273K|GALNT14_ENST00000406653.1_Missense_Mutation_p.E288K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	308	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCAAAGTTCTCCCCACCCCAG	0.522000													22	58					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101434460	101434460	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:101434460G>A	ENST00000554693.2	+	0	135				SNORD114-11_ENST00000363738.1_RNA																							GACCAGTGATGGTGACTGGTG	0.403000													10	12					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2																						AGGGACTCACCGCCTTGGCCA	0.791000													3	6					1	1	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55221950	55221950	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55221950G>A	ENST00000413439.1	+	0	1477																											CCTCAGGAGAGAACGTGACCC	0.637000													8	33					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94259138	94259138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:94259138G>A	ENST00000415788.2	-	3	320	c.233C>T	c.(232-234)tCc>tTc	p.S78F	SGCE_ENST00000265735.7_Missense_Mutation_p.S42F|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.S42F|SGCE_ENST00000428696.2_Missense_Mutation_p.S42F|SGCE_ENST00000447873.1_Missense_Mutation_p.S42F			O43556	SGCE_HUMAN	sarcoglycan, epsilon	42				G -> S (in Ref. 3; AAM64204).	cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTACCTTGGAGAAAATACT	0.383000													30	30					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142132	29142132	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29142132G>A	ENST00000377167.2	+	1	822	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGTGTTTAGGACATGTGGAG	0.458000													49	100					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390790	197390790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:197390790C>T	ENST00000367400.3	+	6	1967	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.S92F|CRB1_ENST00000535699.1_Missense_Mutation_p.S542F|CRB1_ENST00000367399.2_Missense_Mutation_p.S499F|CRB1_ENST00000538660.1_Missense_Mutation_p.S611F|CRB1_ENST00000543483.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	611	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTCAGAACTCCTTTTTGGGT	0.443000													49	45					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66396404	66396404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:66396404C>T	ENST00000404260.3	+	8	1371	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	MAST4_ENST00000261569.7_Missense_Mutation_p.R158C|MAST4_ENST00000405643.1_Missense_Mutation_p.R173C|MAST4_ENST00000490016.2_Missense_Mutation_p.R163C|MAST4_ENST00000403666.1_Missense_Mutation_p.R163C|MAST4_ENST00000403625.2_Missense_Mutation_p.R352C			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	355						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATGCGCCCCCGTTCCCGAAG	0.478000													17	93					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5729476	5729476	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5729476C>T	ENST00000379965.3	+	6	1124	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	283	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTACCAGATCTGAGTGGGAT	0.423000													13	47					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61831288G>A	ENST00000280772.1	-	37	9542	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGACTTATGATTTTTTTTA	0.403000													51	80					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357943	38357943	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38357943C>T	ENST00000273173.4	+	9	1752	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	SLC22A14_ENST00000448498.1_Missense_Mutation_p.S554F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	554						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGGCCTTTTCCCTCTCCTCC	0.612000													23	31					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059544	11059544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:11059544C>T	ENST00000287766.4	+	4	675	c.254C>T	c.(253-255)cCc>cTc	p.P85L	SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_3'UTR|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	85					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCCTGATCCCCTATTTCCTG	0.602000													39	83					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627558	21627558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:21627558G>A	ENST00000425654.2	+	19	2905	c.2425G>A	c.(2425-2427)Ggg>Agg	p.G809R	CNKSR2_ENST00000379510.3_Missense_Mutation_p.G839R|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G790R|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G839R	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	839					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAATGGAAATGGGGGCAAGCC	0.532000													42	12					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144380014	144380014	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:144380014C>T	ENST00000360057.3	-	4	275	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TPK1_ENST00000378099.3_Missense_Mutation_p.G58E|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.E13K	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	58					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.G58V(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTCTCTCTCTCCTTCGGTGAT	0.378000													26	129					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147516549	147516549	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147516549G>A	ENST00000359874.3	+	34	3353	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	SPINK5_ENST00000256084.7_Missense_Mutation_p.E1064K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1064					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.E1094K(1)|p.E1064K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTAGGACGAATGACAGGA	0.393000													69	128					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661416	50661416	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:50661416G>A	ENST00000371824.1	+	5	949	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	ELAVL4_ENST00000371821.1_Missense_Mutation_p.R236Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R231Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R248Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R234Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R236Q|ELAVL4_ENST00000371823.4_Missense_Mutation_p.R231Q			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	231					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCCCCAACCGGCGCTACCCA	0.602000													44	48					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416874	89416874	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:89416874C>T	ENST00000490686.1	-	0	336																											GTTGCAAAATCTTCAGGCTGC	0.502000													38	73					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408881	50408881	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50408881C>T	ENST00000217086.4	-	2	252	c.141G>A	c.(139-141)gtG>gtA	p.V47V	SALL4_ENST00000395997.3_Silent_p.V47V|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	47					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGTGGTTCACTGGAGCAC	0.547000													26	55					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763157	43763157	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43763157G>A	ENST00000418820.2	-	3	659	c.561C>T	c.(559-561)ctC>ctT	p.L187L	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.L280L|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Silent_p.L187L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	187	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GACTGACGGGGAGGCTCTGAC	0.478000													67	234					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10621503	10621503	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:10621503C>T	ENST00000254958.5	-	25	3642	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	JAG1_ENST00000423891.2_Missense_Mutation_p.D884N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1043					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTGTTTCCATCACGTTTACTA	0.448000									Alagille Syndrome				34	57					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109667988	109667988	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:109667988C>T	ENST00000296486.3	-	10	1256	c.1102G>A	c.(1102-1104)Gga>Aga	p.G368R	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G328R|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G362R|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G310R	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		AAATCAATTCCAATAAAAAGG	0.448000													33	122					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:12907865C>T	ENST00000317869.6	-	2	503	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTGCGTTTCCTCGGTTCAC	0.483000													22	89					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471438	150471438	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:150471438C>T	ENST00000369064.3	+	12	1501	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.S359S|TARS2_ENST00000606933.1_Silent_p.S407S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	489					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTGGCTTCTCCTTCCGCCTGG	0.567000													72	52					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250931	179250931	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:179250931T>A	ENST00000389805.4	+	3	553	c.375T>A	c.(373-375)aaT>aaA	p.N125K	SQSTM1_ENST00000360718.5_Missense_Mutation_p.N41K|SQSTM1_ENST00000402874.3_Missense_Mutation_p.N41K|SQSTM1_ENST00000510187.1_Missense_Mutation_p.N125K|SQSTM1_ENST00000376929.3_Missense_Mutation_p.N41K	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	125	Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCCCAATGTGATCTGCG	0.602000													32	76					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650825	79650825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:79650825G>A	ENST00000397498.4	-	1	129	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	11							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCGGCGCCGCGGCTCAAGGCC	0.627000													10	22					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886334	33886334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:33886334G>A	ENST00000257818.2	-	5	1107	c.278C>T	c.(277-279)cCc>cTc	p.P93L	LMO2_ENST00000395833.3_Missense_Mutation_p.P24L	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	24					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAGGGATGGGGGGATCTGCAG	0.612000			T	TRD@	T-ALL								15	51					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10192542	10192542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:10192542C>T	ENST00000535335.1	+	4	1612	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	KLF11_ENST00000540845.1_Missense_Mutation_p.P466S|KLF11_ENST00000305883.1_Missense_Mutation_p.P483S	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	483					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CAAGAAGATCCCAGGCTGGCA	0.607000													90	330					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50945839	50945839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50945839C>T	ENST00000374103.4	-	20	2668	c.2583G>A	c.(2581-2583)atG>atA	p.M861I	OGDHL_ENST00000432695.1_Missense_Mutation_p.M652I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.M804I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	861					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TACCGGATACCATTTGGTCAA	0.587000													19	26					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29453458	29453458	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:29453458G>A	ENST00000283351.4	-	14	2332	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P612L	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	666					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATACGGTAAAGGAAGCTGTGG	0.363000													5	25					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684473	55684473	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55684473G>A	ENST00000370830.3	-	2	1361	c.663C>T	c.(661-663)atC>atT	p.I221I	BMP5_ENST00000446683.2_Silent_p.I221I	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	221					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCTTGATGATTTGATATA	0.328000													16	39					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21918682C>T	ENST00000240662.2	-	3	1595	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000													43	44					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31651470	31651470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:31651470G>A	ENST00000375494.3	+	6	641	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	214	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GAGCTCCTGGGGGCTGTGCTG	0.587000													26	66					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167517616	167517616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:167517616G>A	ENST00000519204.1	+	7	1308	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*	TENM2_ENST00000518659.1_Nonsense_Mutation_p.W518*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.W286*|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Nonsense_Mutation_p.W351*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.W518*					teneurin transmembrane protein 2																		AAGGAGAAGTGGAGTGTGGTT	0.532000													38	89					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063106	55063106	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55063106G>A	ENST00000526016.1	-	0	531					NR_038174.2																						TCTTCATGGAGAAATGCAGGC	0.388000													6	11					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883786	196883786	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196883786T>A	ENST00000367416.2	+	8	1476	c.1339T>A	c.(1339-1341)Ttc>Atc	p.F447I	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.F201I|CFHR4_ENST00000367418.1_Missense_Mutation_p.F201I	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTGGTCCCATTTCCCAACATG	0.343000													11	24					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176957	193176957	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:193176957C>T	ENST00000342695.4	-	14	1909	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	ATP13A4_ENST00000392443.3_Silent_p.A510A|ATP13A4_ENST00000295548.3_Silent_p.A529A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	529					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTGGCCATCGCTGCACACA	0.542000													31	49					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039138	11039138	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:11039138G>A	ENST00000470054.1	-	0	1065									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATAATGAAGTGCTTTC	0.403000													15	339					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762199	43762199	+	Silent	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43762199T>C	ENST00000244293.7	-	4	1185	c.1119A>G	c.(1117-1119)ctA>ctG	p.L373L	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Silent_p.L280L|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGAGAGTCTGTAGAGACAAAT	0.468000													5	16					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527115	132527115	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:132527115G>A	ENST00000331898.7	-	2	845	c.267C>T	c.(265-267)atC>atT	p.I89I	OPCML_ENST00000524381.1_Silent_p.I82I|OPCML_ENST00000374778.4_Silent_p.I48I|OPCML_ENST00000541867.1_Silent_p.I89I|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	89	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGACCAGGATGATCACACGAG	0.522000													44	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084930	9084930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9084930C>T	ENST00000397910.4	-	1	7088	c.6885G>A	c.(6883-6885)tgG>tgA	p.W2295*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2295	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						CTGAACTCATCCAATCCCCAG	0.468000													15	16					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44168016	44168016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:44168016C>T	ENST00000600168.1	-	1	118	c.31G>A	c.(31-33)Gta>Ata	p.V11I	EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.V11I					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				ATGAATGGTACCAGGATTGGC	0.512000													40	59					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971154	28971154	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28971154C>T	ENST00000359747.4	+	7	827	c.798C>T	c.(796-798)ttC>ttT	p.F266F	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.F266F	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	266	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGATAATTTCCCCACCTTAG	0.393000													22	37					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898020	175898020	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:175898020C>T	ENST00000359240.3	+	5	2014	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ADAM29_ENST00000514159.1_Silent_p.F448F|ADAM29_ENST00000404450.4_Silent_p.F448F|ADAM29_ENST00000445694.1_Silent_p.F448F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	448	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACTGCAAGTTCCTACCATCAG	0.438000													32	40					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206793	103206793	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103206793C>T	ENST00000428762.1	-	33	4973	c.4814G>A	c.(4813-4815)gGa>gAa	p.G1605E	RELN_ENST00000424685.2_Missense_Mutation_p.G1605E|RELN_ENST00000343529.5_Missense_Mutation_p.G1605E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1605					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCTTGAAATCCAGTTTGAGA	0.413000													4	52					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917207	7917207	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7917207A>T	ENST00000254854.4	+	12	2423	c.2273A>T	c.(2272-2274)cAg>cTg	p.Q758L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	758	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAAGTGGTGCAGAGGGTGCGG	0.617000													21	58					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873451	6873451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:6873451G>A	ENST00000419673.2	+	7	738	c.521G>A	c.(520-522)gGa>gAa	p.G174E	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G156E|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G174E|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G333E|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G169E|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G174E|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.G333E|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G281E|RP11-146G7.2_ENST00000583659.1_RNA	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	156					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACTGAAGCAGGAGATCTGTCT	0.348000													30	35					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688980	26688980	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:26688980G>A	ENST00000529632.2	+	2	899	c.703G>A	c.(703-705)Gag>Aag	p.E235K	SEZ6L_ENST00000248933.6_Missense_Mutation_p.E235K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E235K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E8K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E8K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E235K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E235K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	235						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCCCCAGGAGGACACCAG	0.627000													8	13					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073455	74073455	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:74073455G>A	ENST00000370367.3	+	3	579	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGAGGTGCAGGAGGCCGGGAC	0.692000													63	23					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43891435	43891435	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:43891435C>T	ENST00000300283.6	+	10	1610	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	CKMT1B_ENST00000441322.1_Silent_p.I406I	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	406					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GCCAGGATATCCGCATCCCCA	0.498000													45	76					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15729086	15729086	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15729086C>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CAGCCACCTTCCTCTTTCCTT	0.547000													4	7					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622398	175622398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:175622398C>T	ENST00000348749.5	-	4	317	c.240G>A	c.(238-240)tgG>tgA	p.W80*	CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.W105*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.W80*|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Nonsense_Mutation_p.W80*|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	105					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGTAATCCACCCATTGCTAGA	0.378000													14	34					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141596	133141596	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:133141596G>A	ENST00000388996.4	-	15	2952	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	KCNQ3_ENST00000521134.1_Silent_p.P724P|KCNQ3_ENST00000519445.1_Silent_p.P832P	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	844					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGGCGTGAAGGGGTCCGTGT	0.572000													12	50					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739782	152739782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:152739782G>A	ENST00000360283.6	-	2	405	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CACNB4_ENST00000201943.5_Nonsense_Mutation_p.Q84*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.Q50*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.Q37*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.Q84*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.Q66*			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	84					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTCTCAAGCTGGATAGCTGCT	0.512000													33	43					0	0	1	0	0
SMPD4P1	645280	broad.mit.edu	37	22	20977010	20977010	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:20977010G>A	ENST00000443839.1	-	0	1524																											CCAGGGTCGAGAAATTCCATC	0.502000													7	7					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519205	50519205	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50519205C>T	ENST00000267842.5	+	7	1519	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC27A2_ENST00000544960.1_Silent_p.I194I|SLC27A2_ENST00000380902.4_Silent_p.I376I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	429					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358000													5	20					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848075	56848075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56848075G>A	ENST00000257979.4	-	1	351	c.323C>T	c.(322-324)aCc>aTc	p.T108I	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	108					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AGCAGGTGGGGTAACGCTATA	0.597000													22	34					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325916	29325916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:29325916C>T	ENST00000328381.5	+	5	1879	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	336	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGAGATGAGCCGCGACCAGGT	0.552000													16	22					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113875605	113875605	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:113875605G>A	ENST00000259206.5	+	1	132	c.10_splice	c.e1+1	p.A4_splice	IL1RN_ENST00000354115.2_Splice_Site_p.E4_splice|IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000361779.3_5'UTR	NM_173841.2	NP_776213.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	0					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CATGGCTTTAGGTAAGCTCCT	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of				16	46					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497654	61497654	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:61497654C>T	ENST00000424789.2	+	25	4315	c.4311C>T	c.(4309-4311)ctC>ctT	p.L1437L	TANC2_ENST00000389520.4_Silent_p.L1447L|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1437							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCAGGGGCTCCCGGTCATCC	0.562000													14	14					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879199	228879199	+	Silent	SNP	G	G	A	rs61732781	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:228879199G>A	ENST00000366691.3	+	3	1155	c.489G>A	c.(487-489)tcG>tcA	p.S163S		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	163					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GAACGCAGTCGGATCTCAGAG	0.522000													31	80					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48616711	48616711	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:48616711C>T	ENST00000328333.8	-	61	5415		c.e61-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCGGTCACCCTGTGGAAAAT	0.602000													15	51					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85958165	85958165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:85958165G>A	ENST00000304195.3	-	5	618	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	FRMD3_ENST00000376438.1_Missense_Mutation_p.H138Y	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	138	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCGGCCATGAAAAATGTCC	0.463000													15	89					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465678	41465678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:41465678C>T	ENST00000400454.1	-	21	4297	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1274	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGATGATTTCACTGCTGTTG	0.468000													8	29					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459464	186459464	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:186459464C>T	ENST00000265023.4	+	10	1491	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	427	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGGGCATACTCGTAGACATGA	0.468000													27	41					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251824	114251824	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:114251824G>A	ENST00000371936.1	-	3	258	c.9C>T	c.(7-9)ttC>ttT	p.F3F	IL13RA2_ENST00000243213.1_Silent_p.F3F|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	3						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.F3F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCAAGCAAACGAAAGCCATTT	0.328000													27	13					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902746	75902746	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:75902746G>A	ENST00000322563.3	-	4	876	c.752C>T	c.(751-753)cCc>cTc	p.P251L	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	251					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTGCCCATGGGTCGGTGCAC	0.612000													48	93					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216419	111216419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:111216419G>A	ENST00000369769.2	-	1	1236	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	338						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATAAAATAAGGAATGATGGC	0.542000													36	50					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200492	8200492	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8200492C>T	ENST00000162391.3	+	7	1977	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	FOXJ2_ENST00000428177.2_Silent_p.L278L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	278					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCTTCTCTCCTGGGGGACAT	0.552000													31	56					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396305	34396305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34396305C>T	ENST00000397766.2	+	1	2032	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	525										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGACATTTCCCCAAGAGCAT	0.502000													18	23					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412271	77412271	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:77412271G>A	ENST00000308488.6	-	6	2305	c.2003C>T	c.(2002-2004)aCc>aTc	p.T668I	RSF1_ENST00000480887.1_Missense_Mutation_p.T416I|RSF1_ENST00000360355.2_Missense_Mutation_p.T637I			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	668					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTTAGGGTTTCTAGGTC	0.438000													63	85					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8216228	8216228	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:8216228C>T	ENST00000539824.1	+	5	548	c.174C>T	c.(172-174)atC>atT	p.I58I	SH3TC1_ENST00000245105.3_Silent_p.I134I			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	134							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGCTGTCCATCCACAGTGACC	0.512000													12	42					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667297	35667297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35667297G>A	ENST00000440995.2	+	9	1291	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SPEF2_ENST00000509059.1_Missense_Mutation_p.E431K|SPEF2_ENST00000356031.3_Missense_Mutation_p.E431K|SPEF2_ENST00000282469.6_Missense_Mutation_p.E431K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	431					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTATGTGCAGAAATTTTGGA	0.328000													13	32					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54344369	54344369	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:54344369G>A	ENST00000072644.1	-	5	558	c.222C>T	c.(220-222)tcC>tcT	p.S74S	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Silent_p.S99S	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TCCAGAAGGGGGAGCTTTTCT	0.408000													11	40					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822477	103822477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:103822477G>A	ENST00000296422.7	-	12	1486	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	449						integral to membrane	solute:hydrogen antiporter activity										AGAGCCAGAGGACCTAACACA	0.398000													6	131					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030165	95030165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:95030165G>A	ENST00000557004.1	+	2	767	c.346G>A	c.(346-348)Gat>Aat	p.D116N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.D116N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.D116N|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	116					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GTCTGAGTCCGATGTCCATAG	0.637000													31	35					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967314	52967314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52967314C>T	ENST00000549343.1	-	1	286	c.248G>A	c.(247-249)gGg>gAg	p.G83E	KRT74_ENST00000305620.2_Missense_Mutation_p.G83E			Q7RTS7	K2C74_HUMAN	keratin 74	83	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCCCGGCCCCCTCCATACCC	0.612000													17	24					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34102840G>A	ENST00000389232.4	+	71	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000													19	28					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490630	45490630	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:45490630C>T	ENST00000541297.2	+	8	1410	c.945C>T	c.(943-945)ttC>ttT	p.F315F	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.F227F|CLPTM1_ENST00000337392.5_Silent_p.F329F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	329					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCTGGAACTTCCTGGGTGATG	0.647000													42	140					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077075	27077075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:27077075G>A	ENST00000263182.3	+	3	466	c.98G>A	c.(97-99)tGg>tAg	p.W33*	BBOX1_ENST00000528583.1_Nonsense_Mutation_p.W33*|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.W33*|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.W33*	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	33					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGCTGTATGGTTGAGAGAC	0.473000													17	47					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458731	232458731	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:232458731A>C	ENST00000313965.2	+	1	1157	c.1069A>C	c.(1069-1071)Atc>Ctc	p.I357L		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	357										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CCTGCGCACCATCACCCGTGT	0.692000													17	44					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014871	119014871	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:119014871G>C	ENST00000298472.5	+	7	927	c.784G>C	c.(784-786)Gat>Cat	p.D262H	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	262					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GGTACTCTTGGATGGAGGTGA	0.612000													24	23					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399690	55399690	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55399690C>T	ENST00000469767.1	+	4	688	c.678C>T	c.(676-678)gtC>gtT	p.V226V	FCAR_ENST00000391725.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000355524.3_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGCCCTGTGTCTGGGTTGGCT	0.582000													9	18					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69666591	69666591	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:69666591C>T	ENST00000212015.6	+	5	1040	c.987C>T	c.(985-987)ttC>ttT	p.F329F	SIRT1_ENST00000432464.1_Silent_p.F34F|SIRT1_ENST00000403579.1_Silent_p.F26F|SIRT1_ENST00000406900.1_Silent_p.F26F	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	329	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GTCACAAATTCATAGCCTTGT	0.388000													22	17					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555003	22555003	+	RNA	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22555003A>T	ENST00000390451.2	+	0	174																											TAGTCCAGAAAGGAGGGATTT	0.428000													3	25					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925593	55925593	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55925593C>T	ENST00000244728.5	-	27	2750	c.2352_splice	c.e27-1	p.G785_splice	COL21A1_ENST00000535941.1_Splice_Site_p.G785_splice|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Splice_Site_p.G185_splice|COL21A1_ENST00000370819.1_Splice_Site_p.G782_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	785	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AACTCTCTTCCCTGCATCAAA	0.318000													33	44					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997547	115997547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:115997547G>A	ENST00000264363.2	-	2	1324	c.646C>T	c.(646-648)Cct>Tct	p.P216S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	216	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTTCCCCAGGAAGAGGGCCT	0.408000													12	49					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74907660	74907660	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:74907660A>C	ENST00000289575.5	+	10	1930	c.1535A>C	c.(1534-1536)tAc>tCc	p.Y512S	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.Y368S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.Y490S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.Y285S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.Y396S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.Y285S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.Y257S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	512	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGTGTGGAATACATCACACCC	0.627000													12	53					0	0	1	0	0
AIDA	64853	broad.mit.edu	37	1	222860965	222860965	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:222860965G>A	ENST00000340020.6	-	5	531	c.325C>T	c.(325-327)Cca>Tca	p.P109S	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.P109S|AIDA_ENST00000541237.1_Missense_Mutation_p.P85S	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	109					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						ACATCAAATGGGAATTCTTTA	0.259000													24	112					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109867326	109867326	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:109867326G>A	ENST00000424296.2	-	26	3045	c.2969C>T	c.(2968-2970)cCt>cTt	p.P990L	AK9_ENST00000355283.1_Missense_Mutation_p.P69L|AK9_ENST00000341338.6_Missense_Mutation_p.P69L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TCTTAATGGAGGAGCCTGTCA	0.443000													49	41					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729028	196729028	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196729028C>T	ENST00000312428.6	-	41	7451	c.7351G>A	c.(7351-7353)Gat>Aat	p.D2451N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2451	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGCTGCCATCTGTTTGCTTG	0.463000													36	50					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599493	179599493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179599493G>A	ENST00000589042.1	-	51	15382	c.15158C>T	c.(15157-15159)tCa>tTa	p.S5053L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4736L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3809L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4736	Ig-like 31.						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)			TGCTTCACATGAGTAACTCCC	0.373000													74	86					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869525	86869525	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:86869525G>A	ENST00000373119.4	+	3	824	c.679G>A	c.(679-681)Gga>Aga	p.G227R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G227R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	227	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGGATGGAAGGAGTAGATCC	0.398000													9	5					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117792609	117792609	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117792609G>C	ENST00000350763.4	-	24	6407	c.5996C>G	c.(5995-5997)aCc>aGc	p.T1999S	TNC_ENST00000423613.2_Missense_Mutation_p.T1726S|TNC_ENST00000535648.1_Missense_Mutation_p.T1544S|TNC_ENST00000345230.3_Missense_Mutation_p.T1362S|TNC_ENST00000340094.3_Missense_Mutation_p.T1635S|TNC_ENST00000542877.1_Missense_Mutation_p.T1636S|TNC_ENST00000537320.1_Missense_Mutation_p.T1362S|TNC_ENST00000346706.3_Missense_Mutation_p.T1453S|TNC_ENST00000341037.4_Missense_Mutation_p.T1817S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1999	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGATAAATGGTGTAGAGGCC	0.517000													49	57					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66396403	66396403	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:66396403C>T	ENST00000404260.3	+	8	1370	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	MAST4_ENST00000261569.7_Silent_p.P157P|MAST4_ENST00000405643.1_Silent_p.P172P|MAST4_ENST00000490016.2_Silent_p.P162P|MAST4_ENST00000403666.1_Silent_p.P162P|MAST4_ENST00000403625.2_Silent_p.P351P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	354						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGATGCGCCCCCGTTCCCGAA	0.473000													18	91					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948835	165948835	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:165948835G>A	ENST00000360093.3	-	27	5227	c.4736C>T	c.(4735-4737)tCc>tTc	p.S1579F	SCN3A_ENST00000283254.7_Missense_Mutation_p.S1579F|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1530F|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Missense_Mutation_p.S62F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1579						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGTCTGAGGGAGACGAGCTT	0.438000													19	38					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865907	28865907	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:28865907C>T	ENST00000422425.2	+	57	4368	c.4324C>T	c.(4324-4326)Ctg>Ttg	p.L1442L	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Silent_p.L418L|PLB1_ENST00000327757.5_Silent_p.L1453L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1453	Necessary for membrane localization (By similarity).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCAATGAGCCTGCGCACTGT	0.657000													4	16					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438621	75438621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:75438621C>T	ENST00000526712.1	+	2	939	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MOGAT2_ENST00000198801.5_Missense_Mutation_p.H138Y			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATCCGCCCCCATCTGATGAT	0.572000													54	86					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436451	16436451	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:16436451C>T	ENST00000380672.4	-	6	1798	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	BNC2_ENST00000380666.2_Missense_Mutation_p.E581K|BNC2_ENST00000380667.2_Missense_Mutation_p.E514K|BNC2_ENST00000545497.1_Missense_Mutation_p.E486K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	581	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCACCATTTCCCCTGGAGTG	0.522000													49	37					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267403	79267403	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:79267403G>A	ENST00000428286.1	-	11	8676	c.7476C>T	c.(7474-7476)ggC>ggT	p.G2492G	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Silent_p.G2851G|PRUNE2_ENST00000443509.2_Silent_p.G100G|PRUNE2_ENST00000223609.6_Silent_p.G115G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2851					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTTACCATGGCCAGTGTACT	0.388000													54	168					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17755626	17755626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:17755626G>A	ENST00000375436.4	-	3	542	c.355C>T	c.(355-357)Cga>Tga	p.R119*	RCC2_ENST00000375433.3_Nonsense_Mutation_p.R119*	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	119					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACTTCTTTTCGACCAATCAAG	0.443000													30	54					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895839	24895839	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:24895839A>C	ENST00000382071.2	+	4	1020	c.935A>C	c.(934-936)aAt>aCt	p.N312T	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.N312T			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	312	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAGAGGTTCAATGGCTTGTTT	0.547000													39	69					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641384	123641384	+	Silent	SNP	G	G	A	rs145873046		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:123641384G>A	ENST00000606320.1	-	24	3728	c.3522C>T	c.(3520-3522)ttC>ttT	p.F1174F	MPHOSPH9_ENST00000392425.3_Silent_p.F1022F|MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000541076.2_Silent_p.F1144F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1022					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCAAAACATGGAATTTCTTTA	0.368000													10	21					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879239	209879239	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209879239G>A	ENST00000367028.2	+	3	341	c.172G>A	c.(172-174)Gga>Aga	p.G58R	HSD11B1_ENST00000261465.1_Missense_Mutation_p.G58R|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G58R	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	58					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGCGAAGATGGGAGCCCATGT	0.507000													28	41					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458127	3458127	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3458127C>T	ENST00000301365.4	-	2	149	c.18G>A	c.(16-18)aaG>aaA	p.K6K	TRPV3_ENST00000572519.1_Silent_p.K6K|TRPV3_ENST00000576742.1_Silent_p.K6K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	6						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCACCATCTCCTTGGGGTGGG	0.622000													5	26					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105075050	105075050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:105075050C>T	ENST00000428173.2	+	2	364	c.61C>T	c.(61-63)Cca>Tca	p.P21S	NRK_ENST00000243300.9_Missense_Mutation_p.P21S|NRK_ENST00000536164.1_Missense_Mutation_p.P21S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	21							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGCAGGATCCAACTGGAAT	0.284000										HNSCC(51;0.14)			25	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089737	9089737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9089737C>T	ENST00000397910.4	-	1	2281	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	693	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						CAGGCTGGTTCCTTCCCTGAA	0.502000													47	34					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730506	37730506	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:37730506G>A	ENST00000330843.4	-	4	1826	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	605	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGTGGAAATGGGAGCTGCTAT	0.547000													25	67					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452976	123452976	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123452976C>T	ENST00000360772.3	-	11	1245	c.867G>A	c.(865-867)gaG>gaA	p.E289E	MYLK_ENST00000475616.1_Silent_p.E289E|MYLK_ENST00000360304.3_Silent_p.E289E|MYLK_ENST00000346322.5_Silent_p.E289E|MYLK_ENST00000359169.1_Silent_p.E289E			Q15746	MYLK_HUMAN	myosin light chain kinase	289					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCTGCAGCCTCCAGACTGT	0.552000													31	39					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963962	209963962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209963962G>A	ENST00000367021.3	-	7	1110	c.938C>T	c.(937-939)gCc>gTc	p.A313V	IRF6_ENST00000542854.1_Missense_Mutation_p.A218V	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	313					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGCCTGATGGCATAAATGGC	0.507000										HNSCC(57;0.16)			22	31					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183070693	183070693	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:183070693C>T	ENST00000435564.1	-	8	1124	c.924G>A	c.(922-924)ttG>ttA	p.L308L	PDE1A_ENST00000331935.6_Silent_p.L308L|PDE1A_ENST00000409365.1_Silent_p.L292L|PDE1A_ENST00000536095.1_Silent_p.L204L|PDE1A_ENST00000351439.5_Silent_p.L292L|PDE1A_ENST00000346717.4_Silent_p.L274L|PDE1A_ENST00000410103.1_Silent_p.L308L|PDE1A_ENST00000456212.1_Silent_p.L308L|PDE1A_ENST00000358139.2_Silent_p.L308L	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	308	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATAAATTTATCAAGATATTCA	0.353000													7	26					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85729554	85729554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:85729554G>A	ENST00000322366.6	-	15	2769	c.2362C>T	c.(2362-2364)Cct>Tct	p.P788S	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.P788S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	788						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGCAAGGAGGGATCTGTTCT	0.458000													44	129					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815934	37815934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:37815934G>A	ENST00000326524.2	-	3	654	c.455C>T	c.(454-456)gCt>gTt	p.A152V	GDNF_ENST00000427982.1_Missense_Mutation_p.A169V|GDNF_ENST00000515058.1_Missense_Mutation_p.A126V|GDNF_ENST00000344622.4_Missense_Mutation_p.A126V|GDNF_ENST00000381826.4_Missense_Mutation_p.A143V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	152					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTTGTCTCAGCTGCATCGCA	0.443000													31	56					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007579	161007579	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:161007579T>G	ENST00000447678.1	-	26	4151	c.4031A>C	c.(4030-4032)gAg>gCg	p.E1344A	LPA_ENST00000316300.5_Missense_Mutation_p.E1344A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3852	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTTGCAGTACTCCCATCTGAC	0.507000													37	31					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298131	167298131	+	Silent	SNP	G	G	A	rs72886662	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:167298131G>A	ENST00000409855.1	-	14	2058	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCTTCATGCCGAATGCAGCAG	0.433000													34	26					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44027629	44027629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44027629C>T	ENST00000269439.7	+	4	640	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	RNF165_ENST00000543885.1_Missense_Mutation_p.P5S	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	197							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCACTTTCCCAGAAACTC	0.567000													52	82					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655503	142655503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142655503G>A	ENST00000355265.2	-	5	887	c.413C>T	c.(412-414)tCc>tTc	p.S138F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	138					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGTGCCAGGAATTCTGGAC	0.502000													33	35					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810812	31810812	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:31810812G>A	ENST00000446923.2	+	7	2892	c.2501G>A	c.(2500-2502)aGc>aAc	p.S834N	ZEB1_ENST00000542815.3_Missense_Mutation_p.S783N|ZEB1_ENST00000320985.10_Missense_Mutation_p.S850N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.S830N|ZEB1_ENST00000361642.5_Missense_Mutation_p.S851N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	850					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTACGGTCAGCCCTGCAGTC	0.458000													24	23					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41850261	41850261	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41850261G>A	ENST00000196371.5	-	5	595	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	145					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CGCCTGCACGGATCCTCTCTG	0.507000													12	33					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810648	117810648	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117810648C>T	ENST00000350763.4	-	16	5154	c.4743G>A	c.(4741-4743)caG>caA	p.Q1581Q	TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Silent_p.Q1217Q|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1581	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAGCTTCCTCTGGGTTCCTG	0.532000													35	39					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328292	126328292	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:126328292C>T	ENST00000394329.3	+	3	5578	c.5565C>T	c.(5563-5565)atC>atT	p.I1855I	FAT4_ENST00000335110.5_Silent_p.I153I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1855	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGACACAATCCCTGGTAGGT	0.388000													16	82					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113448	94113448	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94113448G>A	ENST00000243673.2	-	4	1310	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	GPR83_ENST00000539203.2_Missense_Mutation_p.S338F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	380						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACCCTGAAGGAAGGAACTGG	0.562000													8	90					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395846	47395846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:47395846C>T	ENST00000310638.4	-	12	1532	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	CYP4A11_ENST00000371904.4_Missense_Mutation_p.G502R|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	501			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGTGGATTCCATTTTTGGAT	0.587000													44	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89921011	89921011	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89921011C>T	ENST00000405460.2	+	6	719	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	208	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCACCTTTCCCCCTGGCAGA	0.433000													9	24					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155798	151155798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151155798G>A	ENST00000282466.3	-	6	6550	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2184	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGAGAAGGAAATCATGTC	0.438000													37	62					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624572	624572	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:624572C>T	ENST00000321878.5	+	2	657	c.498C>T	c.(496-498)ttC>ttT	p.F166F	PIGQ_ENST00000470411.2_Silent_p.F166F|PIGQ_ENST00000409527.2_Silent_p.F166F|PIGQ_ENST00000026218.5_Silent_p.F166F	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	166					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCCGTCTTCGACACGGTAG	0.687000													5	11					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001063	58001063	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:58001063C>T	ENST00000548198.1	+	3	1921	c.417C>T	c.(415-417)ccC>ccT	p.P139P	DTX3_ENST00000337737.3_Silent_p.P139P|DTX3_ENST00000548804.1_Silent_p.P139P|DTX3_ENST00000551632.1_Silent_p.P142P			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	139	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGGGGctcccccctcctcctc	0.706000													4	6					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020305	41020305	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:41020305C>T	ENST00000585538.1	+	0	1144					NR_002773.1																						TGGACTTTCTCCTTTGGCCTC	0.622000													11	3					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480284	73480284	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:73480284C>T	ENST00000523207.1	+	2	903	c.315C>T	c.(313-315)acC>acT	p.T105T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	105					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTACCGGACCGGGAAACTCC	0.468000													41	55					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559700	140559700	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140559700G>A	ENST00000239444.2	+	1	2330	c.2085G>A	c.(2083-2085)ttG>ttA	p.L695L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCGTTGGCCTCGGTGT	0.677000													39	139					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172946	108172946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:108172946C>T	ENST00000273353.3	-	22	2422	c.2366G>A	c.(2365-2367)aGa>aAa	p.R789K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	789	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTCTCATCTCTTATTGCTTC	0.393000													22	23					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21847523	21847523	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:21847523C>T	ENST00000328843.6	+	64	10240	c.10209C>T	c.(10207-10209)tcC>tcT	p.S3403S	DNAH11_ENST00000409508.3_Silent_p.S3396S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3403	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGGTCAATCCATTAAGTCCT	0.448000									Kartagener syndrome				18	24					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118499023	118499023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:118499023G>A	ENST00000361417.2	+	7	1895	c.1484G>A	c.(1483-1485)tGg>tAg	p.W495*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.W495*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	495										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCGGCGCTGGGCAGCCCAT	0.682000													16	7					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231253291	231253291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:231253291C>T	ENST00000243810.6	+	10	802	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SP140L_ENST00000444636.1_Missense_Mutation_p.P268S|SP140L_ENST00000396563.4_Missense_Mutation_p.P268S|SP140L_ENST00000415673.2_Missense_Mutation_p.P268S			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	268						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAGAGGCAAACCTGGAACCCA	0.363000													7	11					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103371486	103371486	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103371486G>A	ENST00000331272.7	-	8	1636	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	340					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGCAGTACAGGGTGCTGTCG	0.602000													20	44					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377265	77377265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:77377265G>A	ENST00000451710.3	-	26	4559	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1441F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1436F|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1436F|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1441F|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1441					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S1441F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTGGCTTGGGAAAGAGGGGA	0.468000													45	69					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099474	133099474	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:133099474C>T	ENST00000515826.1	+	3	1042	c.919C>T	c.(919-921)Cct>Tct	p.P307S	TMEM108_ENST00000393130.3_Missense_Mutation_p.P307S|TMEM108_ENST00000321871.6_Missense_Mutation_p.P307S|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	307						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTCAGGTGCCCCTGTCAGTCC	0.627000													16	22					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:139155261C>T	ENST00000395297.1	-	16	3802	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211								p.R1211Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)			10	32					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977616	12977616	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:12977616G>A	ENST00000273221.4	-	3	1158	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	314					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCAGAGGGGGCGACAGCT	0.687000													30	52					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743379	42743379	+	Missense_Mutation	SNP	G	G	A	rs142329440		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:42743379G>A	ENST00000263805.4	-	2	1348	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTCCCTTGCCGCACTGCCATT	0.468000													31	46					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483288	17483288	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:17483288C>G	ENST00000302539.4	-	5	789	c.664G>C	c.(664-666)Gtg>Ctg	p.V222L	ABCC8_ENST00000389817.3_Missense_Mutation_p.V222L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	222					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)	AGCAGATTCACGAAGGGCTGC	0.577000													250	611					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363925	5363925	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5363925G>A	ENST00000300773.2	-	1	884	c.830C>T	c.(829-831)gCc>gTc	p.A277V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAAATAGGCATAGCTCAT	0.383000													43	32					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672935	27672935	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:27672935G>A	ENST00000260570.3	-	36	4083	c.3980C>T	c.(3979-3981)cCt>cTt	p.P1327L		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1327					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACGTTGGGGAGGCAGAAACTT	0.478000													9	35					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586860	42586860	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42586860C>T	ENST00000289957.2	+	5	538	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	137					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCGTGAAATCAAACGGAACT	0.542000													21	33					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688193	132688193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132688193G>A	ENST00000328957.8	-	7	1119	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GALNT9_ENST00000397325.2_Missense_Mutation_p.R8C|GALNT9_ENST00000535228.1_Missense_Mutation_p.R125C|GALNT9_ENST00000541995.1_Missense_Mutation_p.R8C	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	374	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		TGGGCCACGCGGGAGCAGGGC	0.682000													14	44					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266618	107266618	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:107266618C>T	ENST00000334726.2	+	1	164	c.75C>T	c.(73-75)gtC>gtT	p.V25V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTTCAGGTCATCATATTTG	0.423000													45	54					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717764	8717764	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:8717764G>A	ENST00000378641.3	+	20	2608	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	PLCB1_ENST00000338037.6_Silent_p.K711K|PLCB1_ENST00000378637.2_Silent_p.K711K|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	711	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAGGAGGAAGGCATTTAAGA	0.388000													28	31					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862279	14862279	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14862279G>A	ENST00000285046.5	+	1	1811	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	FGD5_ENST00000543601.1_Silent_p.E326E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	567					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGAGCCTGAGGGGTCAGGGT	0.552000													8	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528789	179528789	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179528789T>A	ENST00000589042.1	-	169	36541	c.36317A>T	c.(36316-36318)aAa>aTa	p.K12106I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10255	Ig-like 80.						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)			CACCGACACTTTCTTTTCAGG	0.388000													20	43					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739047	119739047	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:119739047G>A	ENST00000541757.1	+	10	975	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	MARCO_ENST00000327097.4_Missense_Mutation_p.G277R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	277	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGCCCAGGGGAGTAAAGG	0.522000													9	17					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718677	25718677	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:25718677G>A	ENST00000520164.1	-	13	1767	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	EBF2_ENST00000408929.3_Silent_p.S262S|EBF2_ENST00000535548.1_Silent_p.S141S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	410					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGGAAGCTGGCTGGGATTCC	0.527000													49	86					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85984961	85984961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:85984961G>A	ENST00000383699.3	+	7	1372	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CADM2_ENST00000405615.2_Missense_Mutation_p.E242K|CADM2_ENST00000407528.2_Missense_Mutation_p.E240K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	240	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTTCCACAAGAAGGACAGCC	0.294000													43	111					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:24388577C>T	ENST00000330966.7	-	33	3964	c.3802G>A	c.(3802-3804)Gat>Aat	p.D1268N	MYOM3_ENST00000338909.5_Missense_Mutation_p.D158N|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1265N			Q5VTT5	MYOM3_HUMAN	myomesin 3	1265										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527000													38	106					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602679	196602679	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196602679C>T	ENST00000312428.6	-	65	12141	c.12041G>A	c.(12040-12042)cGa>cAa	p.R4014Q	DNAH7_ENST00000409063.1_Missense_Mutation_p.R497Q|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4014					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCTACACCTCGTCCAATCCA	0.438000													9	29					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576994	33576994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:33576994G>A	ENST00000504830.1	-	19	3472	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P961L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1046	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGATTGCTGGAGTGCTTGT	0.562000										HNSCC(64;0.19)			37	61					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192920	44192920	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:44192920C>T	ENST00000403799.3	-	2	657	c.188G>A	c.(187-189)cGc>cAc	p.R63H	GCK_ENST00000395796.3_Missense_Mutation_p.R62H|GCK_ENST00000345378.2_Missense_Mutation_p.R64H|GCK_ENST00000437084.1_Missense_Mutation_p.R63H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	63					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGGGGTGGAGCGCACGTAGGT	0.612000													66	283					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117066916	117066916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117066916G>A	ENST00000284629.2	-	2	241	c.179C>T	c.(178-180)tCa>tTa	p.S60L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	60					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTGGACCAATGAAACATCTCC	0.333000													37	113					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1874623	1874623	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:1874623C>T	ENST00000518288.1	+	24	2926	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000398564.1_Silent_p.F922F|ARHGEF10_ENST00000349830.3_Silent_p.F897F|ARHGEF10_ENST00000520359.1_Silent_p.F859F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	922					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CACATGGTTTCCTGTGGGTAA	0.393000													29	34					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238290072	238290072	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:238290072G>A	ENST00000295550.4	-	5	1835	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	COL6A3_ENST00000392004.3_Silent_p.F255F|COL6A3_ENST00000347401.3_Silent_p.F260F|COL6A3_ENST00000346358.4_Silent_p.F461F|COL6A3_ENST00000392003.2_Silent_p.F54F|COL6A3_ENST00000472056.1_Silent_p.F54F|COL6A3_ENST00000409809.1_Silent_p.F255F|COL6A3_ENST00000353578.4_Silent_p.F255F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	461	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATGGCATTGAAGTTGGCCA	0.493000													15	23					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114140879	114140879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:114140879C>T	ENST00000259335.4	-	37	4468	c.4469G>A	c.(4468-4470)cGg>cAg	p.R1490Q	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.R1312Q	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTCTGTCGCCCGGAGGCTCAA	0.473000													15	53					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131155681	131155681	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:131155681C>T	ENST00000352689.6	+	16	2049	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.S578L	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	670					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTGGATCATTCAGACCCAGAA	0.318000													15	30					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120965493	120965493	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:120965493G>A	ENST00000361301.2	+	1	73	c.24G>A	c.(22-24)agG>agA	p.R8R		NM_016087.2	NP_057171.2	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	0					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTTGCCTCAGGGAGACCCTCT	0.483000													16	96					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3016261	3016261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:3016261G>A	ENST00000216877.6	+	20	2324	c.1924G>A	c.(1924-1926)Gga>Aga	p.G642R	PTPRA_ENST00000399903.2_Missense_Mutation_p.G651R|PTPRA_ENST00000356147.3_Missense_Mutation_p.G642R|PTPRA_ENST00000380393.3_Missense_Mutation_p.G651R|PTPRA_ENST00000318266.5_Missense_Mutation_p.G642R|PTPRA_ENST00000425918.2_Missense_Mutation_p.G662R|PTPRA_ENST00000358719.4_Missense_Mutation_p.G507R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	651	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCATCTGATGGACTGGTGTC	0.542000													13	16					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887086	55887086	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55887086C>T	ENST00000379662.1	+	1	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.R309C			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTGCATTTCGTTTAAAAAA	0.279000													12	26					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452276	26452276	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:26452276C>T	ENST00000244519.2	+	11	1635	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	BTN3A3_ENST00000361232.3_Silent_p.F415F|BTN3A3_ENST00000339789.4_Silent_p.F422F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	464	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGGGGATCTTCCTGGACTATG	0.498000													45	105					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167277932	167277932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:167277932C>T	ENST00000308378.3	-	5	876	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	WDR49_ENST00000453925.2_Missense_Mutation_p.G244S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.G16S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	191										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTGCGTTGCCGTGGCAACCA	0.453000													37	69					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381667	121381667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:121381667C>T	ENST00000297848.3	+	47	5524	c.5254C>T	c.(5254-5256)Cct>Tct	p.P1752S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1752S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1657S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1752	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCCCAAGGTCCTTCTGGCCA	0.592000													30	78					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805842	58805842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:58805842C>T	ENST00000196548.5	+	4	799	c.668C>T	c.(667-669)tCc>tTc	p.S223F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGACAGGCTCCCCAGGAAAA	0.483000													15	16					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531474	50531474	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50531474G>A	ENST00000374144.3	+	3	1172	c.884G>A	c.(883-885)gGa>gAa	p.G295E	C10orf71_ENST00000323868.4_Missense_Mutation_p.G295E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	295										endometrium(1)	1						GACACAGCTGGAACCGTCCCA	0.542000													17	21					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440317	40440317	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:40440317G>A	ENST00000319592.4	-	4	1303	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RBM47_ENST00000514014.1_Silent_p.F160F|RBM47_ENST00000381793.2_Silent_p.F198F|RBM47_ENST00000295971.7_Silent_p.F198F|RBM47_ENST00000381795.6_Silent_p.F198F|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	198	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTACTCCACGAAGGCGAAGC	0.662000													37	24					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104167	53104167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53104167G>A	ENST00000408890.4	+	1	819	c.803G>A	c.(802-804)tGg>tAg	p.W268*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	268										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGGACTTCTGGGAGGCGACA	0.637000													14	48					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067886	3067886	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:3067886C>T	ENST00000397461.1	+	14	1971	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CNTN4_ENST00000397459.2_Silent_p.I201I|CNTN4_ENST00000358480.3_Silent_p.I310I|CNTN4_ENST00000427331.1_Silent_p.I529I|CNTN4_ENST00000418658.1_Silent_p.I529I|CNTN4_ENST00000448906.2_Silent_p.I201I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	529	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGCTAGACATCGTGTTTACTT	0.438000													22	32					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560283	44560283	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44560283C>T	ENST00000332567.4	-	1	1705	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	451					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACCGTTTTCGGCCCGGCGG	0.602000													19	51					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138779	87138779	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87138779T>A	ENST00000265724.3	-	27	3718	c.3301A>T	c.(3301-3303)Ata>Tta	p.I1101L	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.I1037L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1101	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTCGCTTTATTTCTTTGCCA	0.458000													9	53					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860660	16860660	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16860660C>T	ENST00000524140.2	+	6	1625	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	NWD1_ENST00000379808.3_Missense_Mutation_p.P403S|NWD1_ENST00000549814.1_Missense_Mutation_p.P403S|NWD1_ENST00000523826.1_Missense_Mutation_p.P197S|NWD1_ENST00000552788.1_Missense_Mutation_p.P403S|NWD1_ENST00000339803.6_Missense_Mutation_p.P268S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	403	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCTTGCCCCCTGCCCAGGT	0.607000													3	35					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975752	152975752	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152975752C>T	ENST00000331860.3	+	3	406	c.256C>T	c.(256-258)Cct>Tct	p.P86S	SPRR3_ENST00000542696.1_Missense_Mutation_p.P86S|SPRR3_ENST00000295367.4_Missense_Mutation_p.P86S	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	86	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCAAGGTCCCTGAGCCAGG	0.602000													14	46					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298659	79298659	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:79298659C>T	ENST00000419573.3	-	15	2257	c.1983G>A	c.(1981-1983)acG>acA	p.T661T	RASGRF1_ENST00000558480.2_Silent_p.T648T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	661	N-terminal Ras-GEF.				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						AGCGCAGGTCCGTCAGCCTCT	0.552000													29	35					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527069	100527069	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:100527069C>T	ENST00000471714.1	-	50	3748	c.3639G>A	c.(3637-3639)caG>caA	p.Q1213Q	ABI3BP_ENST00000284322.5_Silent_p.Q536Q|ABI3BP_ENST00000383691.4_Silent_p.Q490Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	536						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACGTGGTGTCTGCTTGGGAG	0.418000													9	23					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55878504	55878504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:55878504C>T	ENST00000247178.5	-	1	72	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	13					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCAGGAGCCTCCAGCGCCCGG	0.687000													3	14					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204113	100204113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:100204113C>T	ENST00000355295.4	+	6	1106	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	TDRD7_ENST00000422139.2_Nonsense_Mutation_p.Q197*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	271	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGACCTTAATCAAGGAATTTT	0.358000													20	27					0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996299	73996299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:73996299C>T	ENST00000318443.5	+	5	1335	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.R199W|CD276_ENST00000318424.5_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.R345W	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	345	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGTGAGCATCCGGGATTTCGG	0.672000													9	22					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51399305	51399305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51399305G>A	ENST00000266037.9	+	48	5045	c.5022G>A	c.(5020-5022)atG>atA	p.M1674I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1674						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAACTTGATGGGCACAGGCC	0.562000													7	11					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262487	7262487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:7262487G>A	ENST00000361972.4	-	11	1306	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R406*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	406					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTGAAACCTCGACTGAATGAT	0.502000													19	75					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40301670	40301670	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:40301670T>C	ENST00000416691.1	+	18	1911	c.1811T>C	c.(1810-1812)cTa>cCa	p.L604P	COG6_ENST00000455146.3_Missense_Mutation_p.L604P	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	604					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AACTTTCTTCTAAGTGCCACA	0.308000													38	80					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548718	158548718	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158548718C>T	ENST00000368150.1	-	1	971	c.972G>A	c.(970-972)ttG>ttA	p.L324L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTATTTTTTCAAGGCAACTG	0.423000													47	75					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70898446	70898446	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:70898446C>T	ENST00000340941.6	+	5	626	c.497C>T	c.(496-498)cCc>cTc	p.P166L	MCCC2_ENST00000509358.2_Missense_Mutation_p.P166L|MCCC2_ENST00000323375.8_Missense_Mutation_p.P166L|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	166	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AACAGGCTCCCCTGCATCTAC	0.418000													18	35					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22867488	22867488	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:22867488T>C	ENST00000283645.4	+	19	2694	c.2564T>C	c.(2563-2565)cTt>cCt	p.L855P	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.L855P	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	855					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAACCACGACTTAAAGAAGGC	0.433000													23	37					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501115	195501115	+	Silent	SNP	C	C	T	rs141952289		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195501115C>T	ENST00000463781.3	-	4	13464	c.13005G>A	c.(13003-13005)gtG>gtA	p.V4335V	MUC4_ENST00000475231.1_Silent_p.V4335V|MUC4_ENST00000349607.4_Silent_p.V48V|MUC4_ENST00000346145.4_Silent_p.V99V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1092					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGAAGTCCACGGTCCTCC	0.657000													19	33					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988197	113988197	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:113988197G>A	ENST00000297405.5	-	7	1455	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S364L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S404L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	404						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGACCTGAATTTCTGAG	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	85					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21051236	21051236	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21051236G>A	ENST00000261383.3	-	33	4667	c.4668C>T	c.(4666-4668)gtC>gtT	p.V1556V	DNAH3_ENST00000415178.1_Silent_p.V1556V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1556	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTAATCTGGGACCATCATGG	0.483000													29	39					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68165840	68165840	+	Silent	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68165840T>C	ENST00000262215.3	-	18	2933	c.2544A>G	c.(2542-2544)acA>acG	p.T848T	ARFGEF1_ENST00000520381.1_Silent_p.T302T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	848					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTGTTCCTTTGTCATTTTAT	0.279000													7	7					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586818	42586818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42586818G>A	ENST00000289957.2	+	5	496	c.368G>A	c.(367-369)gGc>gAc	p.G123D		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	123					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTGCTGACGGCCGCTTCGAA	0.498000													20	38					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347637	140347637	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140347637G>A	ENST00000289269.5	+	1	1818	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGGACCGAGAGCGGGTG	0.572000													56	97					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202113	55202113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:55202113C>T	ENST00000396834.1	+	11	1688	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*	IL31RA_ENST00000447346.2_Nonsense_Mutation_p.Q417*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.Q275*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.Q275*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.Q398*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.Q417*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.Q417*	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	385	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GACGATCCAGCAAGGTAGCCA	0.493000													8	38					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405729	132405729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132405729G>A	ENST00000321867.4	+	27	3397	c.3046G>A	c.(3046-3048)Ggg>Agg	p.G1016R	ULK1_ENST00000540647.1_Missense_Mutation_p.G261R	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1016					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTCCTGGAGGGGCTGCAGCA	0.677000													18	30					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635691	240635691	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:240635691G>C	ENST00000319653.9	+	17	5310	c.5080G>C	c.(5080-5082)Gtg>Ctg	p.V1694L	FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_Missense_Mutation_p.V290L|FMN2_ENST00000543681.1_Missense_Mutation_p.V14L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1694	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCCGAAGAGGTGTGTAGACA	0.338000													10	54					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586707	15586707	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15586707A>G	ENST00000292609.4	-	2	903	c.774T>C	c.(772-774)ttT>ttC	p.F258F	PGLYRP2_ENST00000340880.4_Silent_p.F258F			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	258					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCAAAAGCGTAAAGGTCCGAG	0.607000													37	25					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873406	55873406	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55873406G>A	ENST00000313503.1	+	1	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAACAAAGAGGTGAAAAATG	0.368000										HNSCC(53;0.14)			34	76					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304414	10304414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10304414G>A	ENST00000403437.2	-	25	3297	c.3203C>T	c.(3202-3204)tCc>tTc	p.S1068F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1068					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCATTGTGGATTCTTGGGC	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				12	52					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132213988	132213988	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:132213988C>T	ENST00000260818.6	+	35	4246	c.3998C>T	c.(3997-3999)cCt>cTt	p.P1333L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1333	J.						heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGTACCACCCTGATAAGAAT	0.393000													9	16					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21890667	21890667	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:21890667G>A	ENST00000374840.3	+	6	856	c.606G>A	c.(604-606)aaG>aaA	p.K202K	ALPL_ENST00000540617.1_Silent_p.K147K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Silent_p.K202K|ALPL_ENST00000374832.1_Silent_p.K202K|ALPL_ENST00000539907.1_Silent_p.K125K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	202					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGGCTGTAAGGACATCGCCT	0.657000													23	35					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413436	186413436	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:186413436T>G	ENST00000391997.2	-	4	503	c.416A>C	c.(415-417)cAc>cCc	p.H139P	PDC_ENST00000456239.2_Missense_Mutation_p.H87P|PDC_ENST00000340129.5_Missense_Mutation_p.H139P|PDC_ENST00000497198.1_Missense_Mutation_p.H87P	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	139					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTCATAAATGTGAACAACAAT	0.358000													39	41					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928256	147928256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147928256G>A	ENST00000360693.3	-	4	466	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HTR4_ENST00000354217.2_Missense_Mutation_p.H110Y|HTR4_ENST00000521530.1_Missense_Mutation_p.H110Y|HTR4_ENST00000362016.2_Missense_Mutation_p.H110Y|HTR4_ENST00000517929.1_Missense_Mutation_p.H110Y|HTR4_ENST00000521735.1_Missense_Mutation_p.H110Y|HTR4_ENST00000377888.3_Missense_Mutation_p.H110Y|HTR4_ENST00000314512.6_Missense_Mutation_p.H110Y|HTR4_ENST00000520514.1_Missense_Mutation_p.H110Y	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	110					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGCACAGGTGAAAAATCGAT	0.493000													4	5					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713766	10713766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:10713766G>A	ENST00000377022.3	-	11	2665	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S783L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGGGGGATTGAGCCAGGCAG	0.711000													33	32					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298097	2298097	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2298097G>A	ENST00000381458.5	+	7	1012	c.949G>A	c.(949-951)Gga>Aga	p.G317R	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	317					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGACCCCATGGGAAACCCCCT	0.517000													61	120					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941362	35941362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:35941362G>A	ENST00000599180.1	+	2	826	c.746G>A	c.(745-747)aGa>aAa	p.R249K	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R249K			O15552	FFAR2_HUMAN	free fatty acid receptor 2	249						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TATCACCAGAGAAAAAGCCCC	0.592000													18	69					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121565915	121565915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121565915C>T	ENST00000361976.2	+	12	1529	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	455	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGATTTTTCGTGTTAATTG	0.393000													5	12					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805789	43805789	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43805789G>A	ENST00000372470.3	+	5	887	c.845G>A	c.(844-846)gGa>gAa	p.G282E	MPL_ENST00000413998.2_Missense_Mutation_p.G282E	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	282					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCTGCCTGGAGATGCAGGT	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						10	12					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538881	31538881	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31538881C>T	ENST00000286808.3	-	1	90	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	19					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AGAGTCCCCACCATGCCAAGG	0.488000													13	50					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937788	77937788	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:77937788C>T	ENST00000361507.4	-	4	1015	c.930G>A	c.(928-930)ctG>ctA	p.L310L	GAB2_ENST00000340149.2_Silent_p.L272L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	310					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TATTGTCTACCAGGAGGTCCC	0.552000													32	49					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:31754406G>A	ENST00000405650.1	-	0	834				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000													5	21					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:15605946C>T	ENST00000382020.4	+	9	1208	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_ENST00000503731.1_Missense_Mutation_p.R334C|TUSC3_ENST00000506802.1_Intron	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000													55	109					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75094879	75094879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:75094879C>T	ENST00000290573.2	+	3	943	c.343C>T	c.(343-345)Cct>Tct	p.P115S	HK2_ENST00000409174.1_Missense_Mutation_p.P87S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	115	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTATGCCATCCCTGAGGACAT	0.522000													104	212					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139563	56139563	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:56139563G>A	ENST00000535860.1	+	5	1015	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PCK1_ENST00000319441.4_Silent_p.S404S|PCK1_ENST00000543666.1_Silent_p.S87S			P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	6					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCAACTCGAGGTTCTGCA	0.587000													49	81					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678721	186678721	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:186678721G>A	ENST00000343098.5	+	18	20544	c.20544G>A	c.(20542-20544)acG>acA	p.T6848T	FSIP2_ENST00000424728.1_Silent_p.T6759T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACCAAAGACGATGCCTGAAA	0.428000													10	41					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884144	36884144	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:36884144C>T	ENST00000301807.6	-	17	5364	c.3467G>A	c.(3466-3468)gGa>gAa	p.G1156E	TRANK1_ENST00000429976.2_Missense_Mutation_p.G1706E|TRANK1_ENST00000428977.2_Missense_Mutation_p.G1156E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1706					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAGTAATCTCCCTGTGCAAT	0.498000													13	29					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882344	152882344	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152882344C>T	ENST00000368764.3	+	2	135	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	24					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGACTGTTCCTCCTCCAGTC	0.557000													36	33					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908398	103908398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103908398C>T	ENST00000278070.2	+	11	4603	c.4564C>T	c.(4564-4566)Cgt>Tgt	p.R1522C	PPRC1_ENST00000370012.1_Missense_Mutation_p.R489C|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1258C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1522	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGCTCTTATCGTTCACATGA	0.502000													32	96					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000													14	53					0	0	1	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962467	48962467	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:48962467C>T	ENST00000523111.2	+	3	275	c.220C>T	c.(220-222)Cca>Tca	p.P74S	UBE2V2_ENST00000521346.1_Missense_Mutation_p.P34S|UBE2V2_ENST00000517630.1_Missense_Mutation_p.P34S|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P34S	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	74					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACCTAAATACCCAGAAGCTCC	0.299000								Rad6 pathway					21	32					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206786	70206786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70206786C>T	ENST00000550536.1	+	10	1778	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.Q132*|AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.Q66*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.Q425*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.Q219*|RAB3IP_ENST00000362025.5_Silent_p.F407F|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.Q219*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.Q219*|RAB3IP_ENST00000483530.2_Silent_p.F391F	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	441					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TCGATACATTCAGCAGGGACT	0.343000													33	37					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965770	35965770	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35965770G>A	ENST00000274278.3	-	4	918	c.561C>T	c.(559-561)ttC>ttT	p.F187F	UGT3A1_ENST00000333811.4_Silent_p.F133F|UGT3A1_ENST00000503189.1_Silent_p.F187F|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.F153F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	187						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAAGGAAGGGAATACTGGAA	0.468000													30	50					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948779	55948779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:55948779C>T	ENST00000263923.4	-	28	3981	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1229					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGCTCTTTCGCTTACTGTT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	57					0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151733958	151733958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151733958G>A	ENST00000368830.3	-	5	641	c.557C>T	c.(556-558)cCt>cTt	p.P186L	MRPL9_ENST00000368829.3_Intron|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	186					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACTATTTCAGGGTTCAGCTC	0.468000													17	48					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20019948C>T	ENST00000551509.1	-	1	324	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000													48	135					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115348125C>T	ENST00000357872.4	+	15	2426	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000													33	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542534	179542534	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179542534C>T	ENST00000589042.1	-	146	34329	c.34105G>A	c.(34105-34107)Gaa>Aaa	p.E11369K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11052K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10125K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11052	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.453000													63	80					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515418	56515418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56515418G>A	ENST00000390649.3	+	2	399	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	133	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGAAAACATGAACCTGCGAA	0.507000													12	54					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854350	20854350	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:20854350C>T	ENST00000381552.1	+	3	596	c.228C>T	c.(226-228)atC>atT	p.I76I	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Silent_p.I76I|SLCO1C1_ENST00000545604.1_Silent_p.I76I|SLCO1C1_ENST00000266509.2_Silent_p.I76I			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	76					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTTTGATATCCCTTCTTCAC	0.413000													19	54					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46125833	46125833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:46125833C>T	ENST00000295452.4	-	1	265	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	33					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCACCAGTTTCCCAAATGCAG	0.408000													25	28					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447420	226447420	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:226447420C>T	ENST00000272907.6	+	4	1700	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	429	Pro-rich.																CCCATGGCTACCCTAAAAGTC	0.667000													4	12					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22851028	22851028	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:22851028C>T	ENST00000283645.4	+	11	1420	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	TUBGCP5_ENST00000453949.2_Silent_p.V430V|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	430					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTCGAAATGTCGTCCGGGCCT	0.483000													36	65					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229357	3229357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:3229357C>T	ENST00000217939.6	-	7	7041	c.6887G>A	c.(6886-6888)gGa>gAa	p.G2296E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2296	Ig-like C2-type 7.					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)				CTTGGTGCGTCCACCGCTGTC	0.557000													46	13					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131475331	131475331	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:131475331G>A	ENST00000291906.4	+	7	1229	c.835_splice	c.e7-1	p.G279_splice		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	279					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTCCCCACAGGGACACTGCAG	0.682000													21	28					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:211179661C>T	ENST00000352451.3	-	1	253	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000													79	102					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33486588	33486588	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:33486588G>A	ENST00000265371.4	-	13	2439	c.1914C>T	c.(1912-1914)acC>acT	p.T638T	NRP1_ENST00000374822.4_Silent_p.T638T|NRP1_ENST00000395995.1_Silent_p.T638T|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374821.5_Silent_p.T603T|NRP1_ENST00000374867.2_Silent_p.T638T			O14786	NRP1_HUMAN	neuropilin 1	638					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)	CTGATTGTATGGTGCTGTCTA	0.443000													7	19					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806844	2806844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:2806844C>T	ENST00000602557.1	-	69	10937	c.10382G>A	c.(10381-10383)gGa>gAa	p.G3461E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G3283E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3284E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3461E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3460E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3284E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTAAATTTTCCAAAGTCTTT	0.328000													18	35					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131165	45131165	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45131165C>T	ENST00000457685.2	-	6	2022	c.699G>A	c.(697-699)agG>agA	p.R233R	ZNF334_ENST00000347606.4_Silent_p.R271R|ZNF334_ENST00000593880.1_Silent_p.R294R			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAAAAGTTTTCCTACAATCAC	0.398000													33	71					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421474	6421474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6421474C>T	ENST00000396988.3	+	2	312	c.82C>T	c.(82-84)Cga>Tga	p.R28*	PLEKHG6_ENST00000536531.1_Nonsense_Mutation_p.R28*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.R28*|PLEKHG6_ENST00000538208.1_3'UTR	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	28					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R28*(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GGGCCGGCATCGAGCCTCTGC	0.622000													35	44					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967600	4967600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4967600G>A	ENST00000380373.2	-	1	756	c.731C>T	c.(730-732)tCa>tTa	p.S244L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S244*(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.473000													18	134					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405371	113405371	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113405371C>T	ENST00000228928.7	+	13	3017	c.2838C>T	c.(2836-2838)atC>atT	p.I946I	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	946	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAGCCTGATCCGGCTGGTGA	0.567000													8	7					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29354162	29354162	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29354162G>A	ENST00000320081.5	+	3	427	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CLIP4_ENST00000404424.1_Missense_Mutation_p.E58K|CLIP4_ENST00000401605.1_Missense_Mutation_p.E58K|CLIP4_ENST00000401617.2_5'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	58										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATCATGCCAGGAAATTCTTTT	0.284000													12	33					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436157	72436157	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:72436157C>A	ENST00000392627.1	+	2	1503	c.377C>A	c.(376-378)aCc>aAc	p.T126N	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.T93N|GPRC5C_ENST00000481232.1_Missense_Mutation_p.T126N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	81						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGCAGGACACCAAGAAACGG	0.627000													20	68					2.94398e-08	2.97306e-08	1	1	0
SIK3	23387	broad.mit.edu	37	11	116729104	116729104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:116729104G>A	ENST00000375300.1	-	20	2938	c.2933C>T	c.(2932-2934)tCg>tTg	p.S978L	SIK3_ENST00000292055.4_Missense_Mutation_p.S920L|SIK3_ENST00000446921.2_Missense_Mutation_p.S918L|SIK3_ENST00000375288.1_Missense_Mutation_p.S255L|SIK3_ENST00000434315.2_Missense_Mutation_p.S759L|SIK3_ENST00000542607.1_Missense_Mutation_p.S860L|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	920						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCGGTGAGCGAATGCCGGGG	0.592000													322	211					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552019	100552019	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100552019C>T	ENST00000319509.7	+	1	770	c.770C>T	c.(769-771)tCc>tTc	p.S257F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAGTGTTCTCCACTACCATT	0.433000													78	585					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12878872	12878872	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:12878872G>A	ENST00000264827.5	-	12	1340	c.1170C>T	c.(1168-1170)tgC>tgT	p.C390C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.C390C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	390	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCAGGTTGCGGCATTCAAATA	0.577000													38	167					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467476	168467476	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:168467476G>A	ENST00000283309.6	-	4	484	c.420C>T	c.(418-420)ttC>ttT	p.F140F	FRMD1_ENST00000440994.2_Silent_p.F72F|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	140	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCACTCGGAGGAAGGCCACGA	0.547000													33	26					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458328	155458328	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:155458328G>A	ENST00000461783.3	+	7	2485	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	TIAM2_ENST00000360366.4_Silent_p.E404E|TIAM2_ENST00000456144.1_Silent_p.E404E|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.E404E|TIAM2_ENST00000529824.2_Silent_p.E404E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	404					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)		GGTCCAAGGAGGGCAGTGACT	0.512000													13	19					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841864	8841864	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8841864C>T	ENST00000324060.2	+	1	549	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGCCTCCATCCAGACCTCCA	0.552000													93	47					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021439	5021439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:5021439G>A	ENST00000382545.3	+	2	2002	c.895G>A	c.(895-897)Gtt>Att	p.V299I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	299					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTGGTAAGGGTTTTTAGAAT	0.552000													8	44					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78567973	78567973	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:78567973C>T	ENST00000394855.3	+	6	1095	c.867C>T	c.(865-867)atC>atT	p.I289I	DNAJA4_ENST00000446172.2_Silent_p.I233I|DNAJA4_ENST00000394852.3_Silent_p.I260I|DNAJA4_ENST00000343789.3_Silent_p.I260I	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	260					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ATGACTTGATCATGAAAATGA	0.413000													13	38					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989454	7989454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7989454G>A	ENST00000319144.4	-	2	492	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	78	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGGTCCTTGGGGAAGAAGGCG	0.592000										Multiple Myeloma(8;0.094)			13	34					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662665	40662665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:40662665C>T	ENST00000454349.2	+	5	2642	c.2431C>T	c.(2431-2433)Cga>Tga	p.R811*	TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.R811*|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	811					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGAGACGGGCCGACAGCCCAA	0.572000													34	25					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905011	32905011	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32905011C>T	ENST00000416244.2	-	3	754	c.560G>A	c.(559-561)gGg>gAg	p.G187E	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G187E			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	187	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTAAGTGTCCCCGTAAGAGGG	0.547000													56	54					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975554	18975554	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:18975554C>T	ENST00000406451.3	+	23	3067	c.2917C>T	c.(2917-2919)Cta>Tta	p.L973L	HDAC9_ENST00000432645.2_Silent_p.L973L|HDAC9_ENST00000401921.1_Silent_p.L932L|HDAC9_ENST00000441542.2_Silent_p.L976L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	973	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAATGCCCTTCTAGGAAATGA	0.403000													74	85					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000													56	57					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45815365	45815365	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45815365C>T	ENST00000397928.1	+	12	2308	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	TRPM2_ENST00000300481.9_Silent_p.P601P|TRPM2_ENST00000300482.5_Silent_p.P621P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.P621P	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	621						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCATGGACCCCATCCGTGACC	0.577000													47	101					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832651	39832651	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:39832651G>A	ENST00000309060.3	-	4	1321	c.906C>T	c.(904-906)ccC>ccT	p.P302P	ZHX3_ENST00000560361.1_Silent_p.P302P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.P302P|ZHX3_ENST00000540170.1_Silent_p.P302P|ZHX3_ENST00000544979.2_Silent_p.P302P|ZHX3_ENST00000432768.2_Silent_p.P302P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	302	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTGCTCAGGGGGATCATCA	0.582000													30	45					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254766	51254766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:51254766G>A	ENST00000404971.1	-	2	1985	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	NRXN1_ENST00000405581.1_Missense_Mutation_p.P216S|NRXN1_ENST00000401669.2_Missense_Mutation_p.P216S|NRXN1_ENST00000406859.3_Missense_Mutation_p.P216S|NRXN1_ENST00000402717.3_Missense_Mutation_p.P216S|NRXN1_ENST00000405472.3_Missense_Mutation_p.P216S|NRXN1_ENST00000406316.2_Missense_Mutation_p.P216S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	216	EGF-like 1.|Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTCGCACGGGCTTCCCCCG	0.701000													3	7					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112237755	112237755	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:112237755G>A	ENST00000261733.2	+	11	1355	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ALDH2_ENST00000416293.3_Missense_Mutation_p.E385K	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	432					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GACCATAGAGGAGGTTGTTGG	0.572000			T	HMGA2	leiomyoma								12	17					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75044176G>A	ENST00000343932.4	+	4	1086	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000													32	53					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130203	45130203	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45130203C>T	ENST00000457685.2	-	6	2984	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	ZNF334_ENST00000347606.4_Missense_Mutation_p.R592Q|ZNF334_ENST00000593880.1_Missense_Mutation_p.R615Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGTGTGAGTTCGCTGATGTTC	0.443000													36	82					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	385683	385683	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:385683C>T	ENST00000352684.2	+	4	573	c.156C>T	c.(154-156)atC>atT	p.I52I	FBXO25_ENST00000276326.5_Silent_p.I119I|FBXO25_ENST00000382824.1_Silent_p.I52I|FBXO25_ENST00000350302.3_Silent_p.I119I	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	119	Interaction with beta-actin.					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)		TTCAAGATATCCGAAGGTTCA	0.358000													13	33					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261902	158261902	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158261902C>T	ENST00000368170.3	+	3	636	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	119					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGAAAGCGGGCTGTGAGCTGC	0.433000													25	90					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311757	48311757	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:48311757C>T	ENST00000435803.1	+	17	2518	c.2494C>T	c.(2494-2496)Ccc>Tcc	p.P832S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	832					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAAATTAATCCCAAATTACT	0.313000													10	16					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419868	41419868	+	Silent	SNP	G	G	A	rs140340339		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:41419868G>A	ENST00000373198.3	-	3	688	c.453C>T	c.(451-453)ctC>ctT	p.L151L	PTPRT_ENST00000373187.1_Silent_p.L151L|PTPRT_ENST00000356100.2_Silent_p.L151L|PTPRT_ENST00000373184.1_Silent_p.L151L|PTPRT_ENST00000373201.1_Silent_p.L151L|PTPRT_ENST00000373190.1_Silent_p.L151L|PTPRT_ENST00000373193.3_Silent_p.L151L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	151	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L151L(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCTGATGGCGAGCTCTGCCT	0.488000													56	86					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100535202	100535202	+	Silent	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:100535202G>T	ENST00000370152.3	+	8	988	c.852G>T	c.(850-852)gcG>gcT	p.A284A	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	284					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GTGTTGCAGCGTTTATAGCAG	0.398000													21	72					3.6726e-16	3.72728e-16	1	1	0
SFXN3	81855	broad.mit.edu	37	10	102795758	102795758	+	Splice_Site	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:102795758A>T	ENST00000393459.1	+	5	805		c.e5-1		SFXN3_ENST00000224807.5_Splice_Site			Q9BWM7	SFXN3_HUMAN	sideroflexin 3						iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TTGTTCCCTCAGGAAGACCCC	0.512000													28	30					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453000										HNSCC(38;0.096)			51	85					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270875	84270875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:84270875G>A	ENST00000568181.1	-	2	337	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	KCNG4_ENST00000308251.4_Missense_Mutation_p.P73S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	73						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTGCTCCAGGGGAGGAGATAC	0.617000													28	26					0	0	1	0	0
DEFB134	613211	broad.mit.edu	37	8	11853717	11853717	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11853717T>A	ENST00000526438.1	-	1	104	c.44A>T	c.(43-45)gAt>gTt	p.D15V	DEFB134_ENST00000382205.4_Missense_Mutation_p.D15V	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	15					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		CAGCACTGGATCCCAAAGGAA	0.478000													45	78					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773755	25773755	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25773755C>T	ENST00000377905.4	+	8	959	c.840C>T	c.(838-840)ggC>ggT	p.G280G	SLC17A4_ENST00000397076.2_Silent_p.G50G|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	280					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTCACCAGGCTGGTCTCTTC	0.458000													23	47					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817382	45817382	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:45817382C>T	ENST00000358525.4	-	4	568	c.453G>A	c.(451-453)agG>agA	p.R151R	SLC6A20_ENST00000456124.2_Silent_p.R151R|SLC6A20_ENST00000353278.4_Silent_p.R151R	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	151					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGGGTTTTCCTGTACCAGA	0.607000													53	107					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384142	53384142	+	Missense_Mutation	SNP	A	A	G	rs145022961	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:53384142A>G	ENST00000595635.1	-	8	1738	c.1237T>C	c.(1237-1239)Tac>Cac	p.Y413H	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.Y413H	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCACATTCGTAAAGTTTCTCT	0.393000													19	19					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61028352C>T	ENST00000373867.3	-	9	1119	c.654G>A	c.(652-654)cgG>cgA	p.R218R	FAM13C_ENST00000422313.2_Silent_p.R301R|FAM13C_ENST00000442566.3_Silent_p.R322R|FAM13C_ENST00000373868.2_Silent_p.R301R|FAM13C_ENST00000435852.2_Silent_p.R301R|FAM13C_ENST00000419214.2_Silent_p.R301R|FAM13C_ENST00000277705.6_Silent_p.R322R|FAM13C_ENST00000468840.2_Silent_p.R218R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000													21	18					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155689	151155689	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151155689C>T	ENST00000282466.3	-	6	6659	c.6660G>A	c.(6658-6660)ggG>ggA	p.G2220G	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2220	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTGTCATCCCCACTGGGAT	0.423000													54	65					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659821	121659821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:121659821G>A	ENST00000489711.1	+	22	2545	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.M688I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	719					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGGGGAACATGATCAAACTAG	0.458000													16	34					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K|ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527000													14	13					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539409	56539409	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56539409G>A	ENST00000390649.3	+	7	1810	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	604						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGAAATCGAGCCAGCTCT	0.522000													14	25					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601950	138601950	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:138601950G>A	ENST00000440172.1	-	2	2470	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	KIAA1549_ENST00000422774.1_Silent_p.L808L|KIAA1549_ENST00000242365.4_Silent_p.L758L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	808						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAGGTGTCAGAGTTGAGAAC	0.483000			O	BRAF	pilocytic astrocytoma								17	21					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148682048	148682048	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148682048C>T	ENST00000296721.4	+	5	493	c.395C>T	c.(394-396)cCt>cTt	p.P132L	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P132L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	132							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCCCTTCCTCTGGGACCC	0.597000													6	8					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350347	100350347	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100350347C>T	ENST00000542585.1	+	0	2767				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACTCACCATCCCCACGGAAA	0.493000													16	50					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990568	137990568	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137990568C>T	ENST00000409968.1	+	9	2193	c.2015C>T	c.(2014-2016)cCt>cTt	p.P672L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P641L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P672L					thrombospondin, type I, domain containing 7B									p.P672L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGGGGCCCTTGTTCTGAG	0.522000													21	34					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621481	76621481	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:76621481C>T	ENST00000264917.5	+	3	562	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	PDE8B_ENST00000346042.3_Missense_Mutation_p.L173F|PDE8B_ENST00000333194.4_Missense_Mutation_p.L173F|PDE8B_ENST00000342343.4_Missense_Mutation_p.L153F|PDE8B_ENST00000340978.3_Missense_Mutation_p.L173F	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	173					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGAATGCTTTCTTGATAAGCA	0.423000													144	324					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:190424010C>T	ENST00000367462.3	-	2	242	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		4						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCTCTGCTTCGCCATATCAT	0.463000													4	20					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4935975	4935975	+	Nonsense_Mutation	SNP	G	G	A	rs145892529	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4935975G>A	ENST00000322013.3	-	1	947	c.919C>T	c.(919-921)Cga>Tga	p.R307*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCGTCACTCGATCCCGGATC	0.463000													31	19					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497716	120497716	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:120497716G>C	ENST00000256646.2	-	13	2385	c.2166C>G	c.(2164-2166)aaC>aaG	p.N722K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	722	EGF-like 19.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGCATTCGTTCACCTGTG	0.522000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				345	430					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39881398	39881398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:39881398C>T	ENST00000303538.8	-	18	2481	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	648					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTACACCCTCCTCTTCATCA	0.363000													27	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33952586	33952586	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33952586C>T	ENST00000389232.4	+	34	4654	c.4584C>T	c.(4582-4584)ccC>ccT	p.P1528P	RYR3_ENST00000415757.3_Silent_p.P1528P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1528	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTGGAGCCCCTGCAGATGA	0.677000													4	6					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023654	18023654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:18023654G>T	ENST00000205890.5	+	2	1878	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	514	Myosin head-like.				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)					GGACGAAGAAGAGGACGAGGA	0.672000													4	26					0.00024832	0.000249786	1	1	0
INPP5D	3635	broad.mit.edu	37	2	233986883	233986883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:233986883G>A	ENST00000359570.5	+	3	265	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E89K|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	89	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTACAAGAAGGAAAACATGGG	0.552000													41	52					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203734720	203734720	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:203734720G>A	ENST00000442561.2	+	1	417	c.27G>A	c.(25-27)tcG>tcA	p.S9S	LAX1_ENST00000367217.5_Intron	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	9					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAACCCTTTCGACAATCAGAG	0.522000													19	23					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452556	53452556	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53452556C>T	ENST00000314250.6	+	17	1640	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	TENC1_ENST00000379902.3_Silent_p.A326A|TENC1_ENST00000549700.1_Silent_p.A450A|TENC1_ENST00000546602.1_Silent_p.A450A|TENC1_ENST00000451358.1_Silent_p.A450A|TENC1_ENST00000314276.3_Silent_p.A460A|TENC1_ENST00000552570.1_Silent_p.A450A	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	450					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGAGCCAGCCGTGCGCTGGG	0.637000													5	45					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64439075	64439075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:64439075G>A	ENST00000282869.5	-	4	2158	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGTAGTAAGGGTTGAGGAC	0.358000													14	19					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133943020	133943020	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:133943020C>T	ENST00000285928.2	+	19	2279	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	737							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGAAGGATTCCTTGGTTTCC	0.433000													10	65					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884716	228884716	+	Missense_Mutation	SNP	C	C	T	rs145402025		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:228884716C>T	ENST00000392056.3	-	7	900	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443000													34	135					0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836409	49836409	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:49836409G>A	ENST00000343366.4	-	3	443	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	CDHR4_ENST00000412678.2_Intron|CDHR4_ENST00000487256.1_Intron			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CCACCCTGCCGGCTGCCCCTG	0.622000													4	9					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172348180	172348180	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:172348180A>G	ENST00000358155.4	+	18	2092	c.1916A>G	c.(1915-1917)cAa>cGa	p.Q639R	DNM3_ENST00000367731.1_Missense_Mutation_p.Q635R|DNM3_ENST00000355305.5_Missense_Mutation_p.Q645R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	645					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGAATGGACAAGCAGAAAAC	0.383000													11	19					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037857	75037857	+	Silent	SNP	C	C	T	rs140378667	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75037857C>T	ENST00000326665.5	-	14	3755	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1179	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGTCTTTCCCCTCCTCCTT	0.493000													58	76					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636526	42636526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:42636526G>A	ENST00000315323.3	+	1	1602	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	490					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTGGGAGCGCTCGT	0.642000													11	11					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97063357	97063357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:97063357G>A	ENST00000395395.2	+	5	1607	c.1517G>A	c.(1516-1518)aGg>aAg	p.R506K	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CGACACCAGAGGACACACTCA	0.542000													9	37					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486460	128486460	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:128486460G>A	ENST00000325888.8	+	23	4331	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	FLNC_ENST00000346177.6_Missense_Mutation_p.G1357E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1357					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGCCTTCGGGCCAGGCCTG	0.612000													13	34					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47765069	47765069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:47765069C>T	ENST00000398545.4	-	7	1337	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	407										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTAGCTTCTCGTTGCACTAA	0.353000													10	21					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266240	89266240	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:89266240G>A	ENST00000464162.1	-	0	46																											GGAGCTGAGCGGGGACCCTCA	0.577000													60	114					0	0	1	0	0
SCAMP1	9522	broad.mit.edu	37	5	77684718	77684718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:77684718C>T	ENST00000538629.1	+	2	272	c.115C>T	c.(115-117)Cca>Tca	p.P39S	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	39					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TGAATATAATCCATTCTCGGA	0.289000													4	10					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297713	2297713	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2297713G>A	ENST00000381458.5	+	6	732		c.e6-1		TGM3_ENST00000463090.1_Splice_Site	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3						cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTCTGCCCAGATCAATAGCA	0.547000													48	77					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220953377	220953377	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:220953377C>T	ENST00000366913.3	+	5	966	c.768C>T	c.(766-768)ctC>ctT	p.L256L	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	256	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GGGATGAACTCCTAATTGGTA	0.418000													27	32					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21151665	21151665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:21151665C>T	ENST00000602326.1	-	31	4729	c.4146G>A	c.(4144-4146)tgG>tgA	p.W1382*	EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.W1096*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.W1382*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.W866*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.W1376*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.W980*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.W1376*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1376					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGCCTCCCTCCATAAGGCTC	0.363000													10	25					0	0	1	0	0
WHAMMP2	440253	broad.mit.edu	37	15	28996737	28996737	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:28996737G>A	ENST00000512149.2	+	0	209					NR_026589.1																						GGAAGTGAAAGAACTCAGAAG	0.483000													2	1					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199232	118199232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:118199232C>T	ENST00000425217.1	-	4	537	c.483G>A	c.(481-483)tgG>tgA	p.W161*	KSR2_ENST00000339824.5_Nonsense_Mutation_p.W190*	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	190					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGATCCACGGGGTGG	0.647000													14	39					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659547	24659547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:24659547G>A	ENST00000396854.4	-	5	1755	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	TM9SF1_ENST00000556387.1_Intron|RP11-468E2.2_ENST00000561419.1_Intron|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000261789.4_Intron|TM9SF1_ENST00000528669.1_Intron|TM9SF1_ENST00000524835.1_Intron	NM_001014842.1	NP_001014842.1	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TTGAGGTCAGGAACCTGACAG	0.488000													6	39					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30977158	30977158	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:30977158C>T	ENST00000383096.3	-	4	255	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	CCDC178_ENST00000406524.2_Missense_Mutation_p.E25K|CCDC178_ENST00000579916.1_Missense_Mutation_p.E25K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E25K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E25K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E25K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E25K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E25K					coiled-coil domain containing 178																		GCCTTTACTTCCTGACATGTT	0.328000													12	37					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41010132	41010132	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41010132T>A	ENST00000399564.4	-	31	3635	c.3185A>T	c.(3184-3186)cAa>cTa	p.Q1062L	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q617L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCTTCTTTTTGTCTGAGGAC	0.408000													22	38					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													17	31					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26702507	26702507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:26702507C>T	ENST00000272371.2	-	17	2053	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	OTOF_ENST00000403946.3_Missense_Mutation_p.E643K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	643					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAACTTCGTTCCCATAG	0.627000													19	21					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140786	55140786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:55140786G>A	ENST00000257290.5	+	11	1978	c.1647G>A	c.(1645-1647)tgG>tgA	p.W549*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	549					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.W549*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGTCATTTGGAAACAGGTAG	0.458000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			13	88					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71160139	71160139	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71160139C>T	ENST00000234392.2	+	3	710	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	226					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAACTCCTCCCCACGCCTCA	0.701000													12	14					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:67664560G>A	ENST00000335894.4	+	9	931	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	IQCH_ENST00000546225.1_Missense_Mutation_p.E37K|IQCH_ENST00000360277.4_Missense_Mutation_p.E41K|IQCH_ENST00000358767.3_Missense_Mutation_p.E116K	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388000													24	46					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178038	223178038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:223178038C>T	ENST00000284476.6	+	8	3463	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1100					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATGATGCCCTCCACAGTTCTA	0.567000													244	284					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7170304	7170304	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7170304G>A	ENST00000406697.1	+	7	952	c.324G>A	c.(322-324)gtG>gtA	p.V108V	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Silent_p.V108V|C1S_ENST00000328916.3_Silent_p.V108V			P09871	C1S_HUMAN	complement component 1, s subcomponent	108	CUB 1.				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)	AACTCCAGGTGATCTTTAAGT	0.473000													25	50					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40999860	40999860	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:40999860G>A	ENST00000399564.4	-	40	4954	c.4504C>T	c.(4504-4506)Ctg>Ttg	p.L1502L	MROH2B_ENST00000506092.2_Silent_p.L1057L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1502M(1)									AGGATCCACAGAATTTCCTGG	0.473000													19	76					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114666	40114666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:40114666G>A	ENST00000324616.5	+	13	1726	c.1572G>A	c.(1570-1572)atG>atA	p.M524I		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	524										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGGAAAAAATGAATAATTTTT	0.299000													5	48					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366261	10366261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10366261G>A	ENST00000255381.2	-	11	1039	c.929C>T	c.(928-930)cCa>cTa	p.P310L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	310	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAAGTCATATGGGTTGGTGGT	0.418000													34	43					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889600	3889600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:3889600C>T	ENST00000602557.1	-	4	992	c.437G>A	c.(436-438)gGa>gAa	p.G146E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G146E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G146E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G146E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G146E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G146E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G146E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	146	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAGGATTTCCACAAGTGTG	0.413000													23	43					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67941949	67941949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:67941949G>A	ENST00000252336.6	+	10	2652	c.2280G>A	c.(2278-2280)atG>atA	p.M760I	STARD8_ENST00000374599.3_Missense_Mutation_p.M840I|STARD8_ENST00000374597.3_Missense_Mutation_p.M760I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	760	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGACAACATGGCAGCCACCC	0.562000													10	8					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25056932	25056932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:25056932C>T	ENST00000376709.4	-	5	1326	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	355					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGGGCCCCTCCAGTGCCGTG	0.577000													33	36					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058440	19058440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:19058440G>A	ENST00000421369.3	+	12	1837	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	TMC7_ENST00000304381.5_Missense_Mutation_p.E537K|TMC7_ENST00000569532.1_Missense_Mutation_p.E537K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	537						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGGCAGCAGGAGTTTGCCAT	0.527000													43	150					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360118	182360118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:182360118C>T	ENST00000397033.2	+	13	1790	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	454					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGTGCTTTTCGGTCTGATTC	0.333000													12	73					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328040	243328040	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:243328040C>T	ENST00000366542.1	-	13	3273	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.T976T|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.T976T	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1074	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTTAGATTTCGTTACTTTAC	0.468000													7	44					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50221382	50221382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50221382G>A	ENST00000338821.5	-	27	3245	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	ATP9A_ENST00000402822.1_Missense_Mutation_p.S873F|ATP9A_ENST00000311637.5_Missense_Mutation_p.S858F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	994					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAACACCAGGGAGGCGATGTA	0.592000													7	21					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758052	8758052	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8758052G>A	ENST00000229335.6	-	3	289	c.186C>T	c.(184-186)ctC>ctT	p.L62L	AICDA_ENST00000537228.1_Silent_p.L62L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	62					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGATGTAGCGGAGGAAGAGCA	0.577000													9	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075654	9075654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9075654C>T	ENST00000397910.4	-	3	11995	c.11792G>A	c.(11791-11793)aGa>aAa	p.R3931K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3932	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						AGGGGCAATTCTCTCATATGG	0.488000													12	28					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398172	77398172	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:77398172C>T	ENST00000282849.5	-	5	1303	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	295	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGAGGGTTTCCACATTGAGGC	0.493000													42	29					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22212892	22212892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22212892G>A	ENST00000356766.6	+	23	2944	c.2796G>A	c.(2794-2796)tgG>tgA	p.W932*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.W896*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.W932*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	932	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACATGTACTGGAATTGGCCTG	0.468000													26	44					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120976657	120976657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:120976657C>T	ENST00000392793.1	+	3	453	c.182C>T	c.(181-183)cCt>cTt	p.P61L	TECTA_ENST00000264037.2_Missense_Mutation_p.P61L			O75443	TECTA_HUMAN	tectorin alpha	61					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGGCGTTCCTTACCGCACT	0.428000													75	62					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443904	61443904	+	Missense_Mutation	SNP	C	C	T	rs143724578		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61443904C>T	ENST00000395348.3	-	2	782	c.146G>A	c.(145-147)gGa>gAa	p.G49E	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.G49E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	49					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.G49E(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCTGTTTTTCCTTTTCCTTC	0.428000													62	67					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276407	34276407	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34276407G>A	ENST00000373381.4	-	10	1559	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CSMD2_ENST00000338325.1_Silent_p.F18F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	421	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATGGGGAAATTGGGGG	0.547000													27	101					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389599	20389599	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20389599C>G	ENST00000315915.4	+	1	859	c.834C>G	c.(832-834)ttC>ttG	p.F278L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACACTGTTTTCACCCCCGTCC	0.393000													38	166					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38304989	38304989	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:38304989C>T	ENST00000443402.2	-	0	290					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TGATCAACTCCGTTTTTATTA	0.363000													30	23					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128229	152128229	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152128229G>A	ENST00000316073.3	-	3	1410	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	449	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAATTCTGGCC	0.537000													294	436					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835477	61835477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61835477G>A	ENST00000280772.1	-	37	5353	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1721	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAGAGGGGAAATAGATCC	0.408000													4	64					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107588068	107588068	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:107588068G>A	ENST00000374736.3	-	17	2832	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	813					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCCTCCACAGGACTCTCAAA	0.512000													25	51					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129107204	129107204	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:129107204C>T	ENST00000249344.2	+	17	1830	c.1790C>T	c.(1789-1791)tCg>tTg	p.S597L	STRIP2_ENST00000435494.2_Missense_Mutation_p.S597L	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GAATATGTATCGCAACATTTG	0.353000													9	31					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96599352	96599352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:96599352C>T	ENST00000376747.3	-	15	1686	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	539					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.R539Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTGAAAGCTCGCCAGAGAGC	0.343000													16	85					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705550	181705550	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:181705550C>T	ENST00000526775.1	+	21	3510	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	CACNA1E_ENST00000367567.4_Silent_p.F741F|CACNA1E_ENST00000367573.2_Silent_p.F1134F|CACNA1E_ENST00000357570.5_Silent_p.F1085F|CACNA1E_ENST00000358338.5_Silent_p.F1066F|CACNA1E_ENST00000360108.3_Silent_p.F1115F|CACNA1E_ENST00000367570.1_Silent_p.F1134F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1134					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCAATGTTCATCTTCAGCA	0.567000													9	8					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713721	32713721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32713721G>A	ENST00000374940.3	+	3	587	c.485G>A	c.(484-486)aGc>aAc	p.S162N		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	162	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGAGACCAGCTTCCTCTCC	0.498000													23	232					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113018	234113018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.1062_1062insP	INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insP|INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGAGGGGCCCGGCAAGCAGG	0.706000													8	29					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876802	13876802	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13876802G>A	ENST00000265104.4	-	22	3491	c.3387C>T	c.(3385-3387)tcC>tcT	p.S1129S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTTGGTGGAGTTGATAA	0.388000									Kartagener syndrome				23	38					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121631533	121631533	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:121631533G>A	ENST00000515109.1	-	13	1736	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	PRDM5_ENST00000428209.2_Silent_p.A522A|PRDM5_ENST00000264808.3_Silent_p.A553A|PRDM5_ENST00000506065.1_5'UTR			Q9NQX1	PRDM5_HUMAN	PR domain containing 5	0					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTGGCTGAAGGCCTTGCTGC	0.483000													15	36					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230203	137230203	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:137230203C>T	ENST00000508638.1	+	4	484	c.429C>T	c.(427-429)gtC>gtT	p.V143V	PKD2L2_ENST00000350250.4_Silent_p.V109V|PKD2L2_ENST00000508883.1_Silent_p.V143V|PKD2L2_ENST00000502810.1_Silent_p.V143V|PKD2L2_ENST00000290431.5_Silent_p.V143V	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	143						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATGCAAAGTCTATTCATCTT	0.348000													20	53					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762621	53762621	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:53762621C>T	ENST00000341702.3	+	1	1077	c.993C>T	c.(991-993)tcC>tcT	p.S331S	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACGCCCTTTCCTTCATCACCT	0.448000													52	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633551	179633551	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179633551A>C	ENST00000589042.1	-	38	9236	c.9012T>G	c.(9010-9012)aaT>aaG	p.N3004K	TTN_ENST00000359218.5_Missense_Mutation_p.N2958K|TTN_ENST00000342175.6_Missense_Mutation_p.N2958K|TTN_ENST00000591111.1_Missense_Mutation_p.N3004K|TTN_ENST00000460472.2_Missense_Mutation_p.N2958K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.N3004K|TTN_ENST00000342992.6_Missense_Mutation_p.N3004K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2743	Ig-like 17.						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)			TTTCCACACCATTCTTTAACC	0.403000													29	26					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73053119	73053119	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73053119G>A	ENST00000429829.1	-	0	11526					NR_001564.2																						ATTAGCTGGAGCTTGGCCAGA	0.423000													30	14					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8675568	8675568	+	Silent	SNP	G	G	A	rs143511291	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:8675568G>A	ENST00000317371.4	-	11	1282	c.57C>T	c.(55-57)ctC>ctT	p.L19L	SSUH2_ENST00000544814.1_Intron|SSUH2_ENST00000415132.1_Silent_p.L19L|SSUH2_ENST00000341795.3_Silent_p.L19L					ssu-2 homolog (C. elegans)																		ACGTGCAGGCGAGAAACTGAG	0.637000													8	18					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554926	113554926	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113554926T>G	ENST00000546530.1	-	9	968	c.683A>C	c.(682-684)aAa>aCa	p.K228T	RASAL1_ENST00000548055.1_Missense_Mutation_p.K228T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.K228T|RASAL1_ENST00000446861.3_Missense_Mutation_p.K228T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	228					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAACCAGCCTTTAGGTGGCTT	0.637000													17	27					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845398	53845398	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:53845398C>T	ENST00000288139.3	+	49	6629	c.6511C>T	c.(6511-6513)Ctg>Ttg	p.L2171L	CACNA1D_ENST00000422281.2_Silent_p.L2127L|CACNA1D_ENST00000350061.5_Silent_p.L2151L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2151					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAGGAGGACCTGGCGGATGA	0.622000													18	24					0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122481813	122481813	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:122481813C>T	ENST00000538010.1	+	4	2963	c.293C>T	c.(292-294)tCc>tTc	p.S98F	BCL7A_ENST00000261822.4_Missense_Mutation_p.S98F	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	98					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AACCAGAGCTCCATCGCAGAT	0.612000			T	MYC	BNHL								48	71					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758616	5758616	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5758616C>T	ENST00000317121.3	+	1	936	c.870C>T	c.(868-870)atC>atT	p.I290I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGCACAACATCATCCCCCCTT	0.408000													70	225					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542837	55542837	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55542837A>G	ENST00000220676.1	+	4	6543	c.6395A>G	c.(6394-6396)aAt>aGt	p.N2132S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2132					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGGTGAAAATCTTTTCATT	0.323000													13	33					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314949	22314949	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22314949C>T	ENST00000390434.3	+	0	231																											CAGCCATGCTCCTGCTGCTCG	0.542000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	44					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251600	51251600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51251600C>T	ENST00000266037.9	+	14	1197	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	392						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGAACAGATTCGGAGAGAAAA	0.398000													16	16					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121177152	121177152	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121177152G>A	ENST00000242592.4	+	10	1291	c.1140G>A	c.(1138-1140)cgG>cgA	p.R380R	ACADS_ENST00000411593.2_Silent_p.R376R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	380			R -> W (in ACADSD; no detectable activity; dbSNP:rs28940875).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CGGCAGAGCGGCACTACCGCG	0.647000													5	280					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889905	89889905	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:89889905G>A	ENST00000513638.1	+	0	646					NR_003133.2																						TGGAACAGAAGGAGAGGAGTT	0.473000													72	325					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729272	41729272	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:41729272G>A	ENST00000242208.4	-	3	1503	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.I419I	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	419					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I419I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCCTCCACGATCATGTTCT	0.468000										TSP Lung(11;0.080)			18	72					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306816	129306816	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:129306816G>A	ENST00000281437.4	+	2	454	c.358G>A	c.(358-360)Gag>Aag	p.E120K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	120										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGCCAGCAGCGAGTCAGAGAC	0.672000													16	14					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498852	5498852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:5498852G>A	ENST00000355029.4	+	12	1828	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	NET1_ENST00000542715.1_Missense_Mutation_p.M381I|NET1_ENST00000380359.3_Missense_Mutation_p.M508I	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	562					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCATGCAGATGGCAGAGGACA	0.527000													12	49					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081679	152081679	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152081679G>A	ENST00000368804.1	-	2	4013	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1338	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGCGGAATTTTCTGT	0.552000													55	187					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968883	47968883	+	Silent	SNP	G	G	A	rs142684649		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:47968883G>A	ENST00000289672.2	-	7	1028	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	326					cell-cell adhesion	integral to membrane		p.F326F(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACTGTCCCCGAAATCCATCA	0.512000													81	83					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306717	205306717	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:205306717T>C	ENST00000367156.3	-	9	1679	c.863A>G	c.(862-864)aAt>aGt	p.N288S	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.N154S|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.N288S|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.N175S|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.N288S	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	288										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTGGGTTGATTCCCTGAAAG	0.592000													24	68					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650826	79650826	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:79650826G>A	ENST00000397498.4	-	1	128	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	10			S -> R (in dbSNP:rs8066889).				GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCGCGGCTCAAGGCCC	0.632000													10	22					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840765	21840765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:21840765G>A	ENST00000328843.6	+	63	10089	c.10058G>A	c.(10057-10059)cGa>cAa	p.R3353Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3346Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3353	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3353Q(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCTGGATCGAAATCTGAGC	0.368000									Kartagener syndrome				6	8					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916654	89916654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:89916654G>A	ENST00000548729.1	-	3	1966	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.P386L|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.P558L|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TTGTACATCAGGTCGGCCCTC	0.408000													20	85					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1553923	1553923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:1553923G>A	ENST00000534940.1	-	5	443	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ASMTL_ENST00000416733.2_Missense_Mutation_p.S55F|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.S115F|ASMTL_ENST00000381317.3_Missense_Mutation_p.S131F	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	131	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTTTGCTGGAGCAGTGGAC	0.612000													14	45					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43019204	43019204	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:43019204G>A	ENST00000535468.1	-	4	1073	c.987C>T	c.(985-987)gtC>gtT	p.V329V	CUL7_ENST00000265348.3_Silent_p.V245V	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	245					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTTCCTGGGACCTGTGGGA	0.557000													52	52					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758206	207758206	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:207758206C>T	ENST00000367049.4	+	33	5515	c.5515C>T	c.(5515-5517)Ctt>Ttt	p.L1839F	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.L1389F|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.L1389F|CR1_ENST00000367052.1_Missense_Mutation_p.L1389F|CR1_ENST00000367053.1_Missense_Mutation_p.L1389F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1389	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGCTGTGAACTTTCTGTTCG	0.498000													18	85					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641392	179641392	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179641392C>T	ENST00000589042.1	-	28	5423	c.5199G>A	c.(5197-5199)acG>acA	p.T1733T	TTN_ENST00000359218.5_Silent_p.T1687T|TTN_ENST00000342175.6_Silent_p.T1687T|TTN_ENST00000591111.1_Silent_p.T1733T|TTN_ENST00000460472.2_Silent_p.T1687T|TTN_ENST00000360870.5_Silent_p.T1733T|TTN_ENST00000342992.6_Silent_p.T1733T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1485	Ig-like 8.						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)			CCACCACCATCGTTGGGTCAC	0.473000													26	22					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102819814	102819814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:102819814G>A	ENST00000260302.3	-	7	1019	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	MMP13_ENST00000340273.4_Missense_Mutation_p.P331S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	331	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATACGGTTGGGAAGTTCTGGC	0.463000													30	16					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45567648	45567648	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:45567648G>A	ENST00000347644.3	+	18	1979	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	SLC28A2_ENST00000560767.1_3'UTR|CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	638					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGGAAGATAAGGAGTTCAGTG	0.443000													106	165					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21033868G>A	ENST00000381545.3	+	12	1630	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E471K|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E471K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E471K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000													31	53					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921621	103921621	+	Missense_Mutation	SNP	G	G	A	rs147728236		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103921621G>A	ENST00000405356.1	+	12	2145	c.1910G>A	c.(1909-1911)aGg>aAg	p.R637K	NOLC1_ENST00000605788.1_Missense_Mutation_p.R627K|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.R346K|NOLC1_ENST00000488254.2_Missense_Mutation_p.R628K			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	627					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCATTCCGAAGGGTCAGGGAG	0.473000													6	50					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679836	88679836	+	Silent	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88679836A>T	ENST00000394480.1	-	8	948	c.627T>A	c.(625-627)ctT>ctA	p.L209L	NTRK3_ENST00000558676.1_Silent_p.L209L|NTRK3_ENST00000360948.2_Silent_p.L209L|NTRK3_ENST00000355254.2_Silent_p.L209L|NTRK3_ENST00000317501.3_Silent_p.L209L|NTRK3_ENST00000540489.2_Silent_p.L209L|NTRK3_ENST00000557856.1_Silent_p.L209L|NTRK3_ENST00000357724.2_Silent_p.L209L|NTRK3_ENST00000542733.2_Silent_p.L111L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	209	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L209L(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCTCAGGAAGGTCTGGGA	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	16					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149026	142149026	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142149026C>T	ENST00000390372.3	-	0	251																											AGCTGAGAATCGATCAGGGAA	0.517000													20	77					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772263	4772263	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:4772263C>T	ENST00000378191.4	+	2	714	c.333C>T	c.(331-333)ctC>ctT	p.L111L	AJAP1_ENST00000378190.3_Silent_p.L111L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	111					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCGCCCTCGTGCCCAAGG	0.731000													9	7					0	0	1	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22694963	22694963	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22694963C>T	ENST00000390463.3	+	0	170																											GACTAACTTTCGAAGCCTACT	0.428000													8	32					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157238	33157238	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:33157238G>A	ENST00000341947.2	-	2	318	c.91C>T	c.(91-93)Cct>Tct	p.P31S	COL11A2_ENST00000395194.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P31S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P31S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P31S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P31S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P31S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	31	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACATCCACAGGGGGTGCACCT	0.587000													19	24					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45795873	45795873	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45795873C>T	ENST00000397928.1	+	6	1374	c.929C>T	c.(928-930)tCg>tTg	p.S310L	TRPM2_ENST00000300481.9_Missense_Mutation_p.S310L|TRPM2_ENST00000300482.5_Missense_Mutation_p.S310L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.S310L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	310						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGTTCATATCGGAGCAGACC	0.577000													11	41					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47444824	47444824	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47444824C>T	ENST00000377018.2	+	3	757	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000218388.4_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000456754.2_3'UTR			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TGGGAATGGTCCCACTGGAAA	0.637000													5	3					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516266	1516266	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:1516266G>A	ENST00000389470.4	-	38	5687	c.5688C>T	c.(5686-5688)ttC>ttT	p.F1896F	INTS1_ENST00000404767.3_Silent_p.F1697F			Q8N201	INT1_HUMAN	integrator complex subunit 1	1697					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCCCAGAGGAAGTCCAGAG	0.662000													27	37					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219180	155219180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155219180G>A	ENST00000357232.3	-	18	4920	c.4921C>T	c.(4921-4923)Cag>Tag	p.Q1641*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1641	Cadherin 14.				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)		GGATTTTGCTGAAATTGAATT	0.433000													19	34					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71255444	71255444	+	Splice_Site	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:71255444A>G	ENST00000373290.2	+	4	574	c.453_splice	c.e4+1	p.K151_splice	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	151						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTTCAGAAAAAGGTGAGCCAG	0.493000													3	23					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115537408	115537408	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:115537408G>A	ENST00000369522.3	+	31	3033	c.2793_splice	c.e31+1	p.K931_splice	SYCP1_ENST00000369518.1_Splice_Site_p.K931_splice|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	931					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCAAAAAAGGTAGCTTTTA	0.299000													7	14					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61874029	61874029	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61874029C>T	ENST00000280772.1	-	26	3093	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	ANK3_ENST00000355288.2_Missense_Mutation_p.D102N|ANK3_ENST00000503366.1_Missense_Mutation_p.D969N|ANK3_ENST00000373827.2_Missense_Mutation_p.D962N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	968					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTAAGGTGTCTGCAGCCCAG	0.348000													9	34					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878674	24878674	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:24878674C>T	ENST00000382554.3	+	4	1992	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	558					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGAAAATCCCTCCAGAACTC	0.552000													3	20					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588557	247588557	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247588557C>T	ENST00000366497.2	+	4	2592	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	NLRP3_ENST00000336119.3_Silent_p.I604I|NLRP3_ENST00000391828.3_Silent_p.I604I|NLRP3_ENST00000366496.2_Silent_p.I604I|NLRP3_ENST00000348069.2_Silent_p.I604I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.I604I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	604					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCAGCAAATCAGGCTGGAGC	0.448000													16	26					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23306327	23306327	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:23306327G>A	ENST00000358689.4	-	3	369	c.134C>T	c.(133-135)tCa>tTa	p.S45L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.S45L|ENTPD4_ENST00000417069.2_Missense_Mutation_p.S45L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	45					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATATAAAAGTGAAACAGCAGC	0.373000													43	56					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386729	29386729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29386729C>T	ENST00000320081.5	+	13	1822	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	CLIP4_ENST00000401617.2_Missense_Mutation_p.H416Y|CLIP4_ENST00000404424.1_Missense_Mutation_p.H523Y|CLIP4_ENST00000401605.1_Missense_Mutation_p.H523Y	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	523	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAAACCCCATGGCAAGAA	0.388000													30	34					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179096507	179096507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:179096507C>T	ENST00000471841.1	+	14	1693	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Missense_Mutation_p.P523S	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	523			P -> R (in dbSNP:rs7637065).		mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATTGTATTTCCTTTTTCCCT	0.388000													18	45					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825332	74825332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74825332C>T	ENST00000256362.4	+	2	2087	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	616					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						GGCCACAGCCCAGGGCCAGCC	0.657000													6	25					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178391810	178391810	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:178391810C>T	ENST00000320129.3	+	5	708	c.405C>T	c.(403-405)atC>atT	p.I135I	ZNF454_ENST00000519564.1_Silent_p.I135I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCAGGAGATCAGTTTGCAGC	0.483000													21	42					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237048	53237048	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:53237048T>A	ENST00000294353.6	+	3	698	c.553T>A	c.(553-555)Ttg>Atg	p.L185M	ZYG11B_ENST00000545132.1_Missense_Mutation_p.L185M|ZYG11B_ENST00000443756.2_Missense_Mutation_p.L185M	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	185							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AGTTGCCTCATTGCCAAGATT	0.478000													19	60					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123199718	123199718	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123199718G>A	ENST00000349780.4	-	25	3989	c.3810C>T	c.(3808-3810)tcC>tcT	p.S1270S	CDK5RAP2_ENST00000360822.3_Silent_p.S1238S|CDK5RAP2_ENST00000359309.3_Silent_p.S1229S|CDK5RAP2_ENST00000360190.4_Silent_p.S1270S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1270					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGTGTTGACGGGAGATGACAC	0.498000													34	72					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496451	24496451	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:24496451C>T	ENST00000284224.8	-	6	1381	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Silent_p.G368G|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	368					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAAATTTCCCTACAAAAT	0.428000													40	62					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907953	139907953	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:139907953C>T	ENST00000297183.6	+	29	5546	c.5422C>T	c.(5422-5424)Cct>Tct	p.P1808S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1808S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1808S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P191S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.P1808S(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGCATTTCCTTTGGGTGC	0.408000													38	75					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845439	123845439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123845439G>A	ENST00000369005.1	+	4	3764	c.3424G>A	c.(3424-3426)Gga>Aga	p.G1142R	TACC2_ENST00000515603.1_Missense_Mutation_p.G1142R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1142R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1142R|TACC2_ENST00000453444.2_Missense_Mutation_p.G1142R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1142						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)				AGGAGACCCAGGAAAGCAGCA	0.587000													13	29					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857198	59857198	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59857198C>T	ENST00000278888.3	+	2	192	c.90C>T	c.(88-90)ccC>ccT	p.P30P		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	30					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAATATCTCCCCAGGAAGTAT	0.453000													28	52					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020433	5020433	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5020433G>A	ENST00000321543.1	+	1	221	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGACCTGGGGATGTCCCTG	0.458000													50	126					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051974	103051974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103051974C>T	ENST00000306312.3	-	6	724	c.463G>A	c.(463-465)Gat>Aat	p.D155N	SLC26A5_ENST00000339444.6_Missense_Mutation_p.D155N|SLC26A5_ENST00000356767.4_Missense_Mutation_p.D155N|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D155N|SLC26A5_ENST00000393735.2_Missense_Mutation_p.D155N|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D155N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D155N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D155N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D118N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	155					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.D155N(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGACTATATCATCTGGTACT	0.443000													17	32					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123427623	123427623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123427623C>T	ENST00000360772.3	-	16	2440	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	MYLK_ENST00000475616.1_Missense_Mutation_p.E688K|MYLK_ENST00000360304.3_Missense_Mutation_p.E688K|MYLK_ENST00000346322.5_Missense_Mutation_p.E619K|MYLK_ENST00000359169.1_Missense_Mutation_p.E688K			Q15746	MYLK_HUMAN	myosin light chain kinase	688	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGTGTCCTCCGGGAACACT	0.582000													54	74					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716365	35716365	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:35716365C>T	ENST00000373866.3	+	6	763	c.741C>T	c.(739-741)ctC>ctT	p.L247L	ARMC12_ENST00000373869.3_Silent_p.L237L|ARMC12_ENST00000288065.2_Silent_p.L274L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	247							binding										CAGGGAGTCTCCTGTATGAGG	0.512000													41	50					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597427	20597427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:20597427G>A	ENST00000504154.1	+	31	3542	c.3290G>A	c.(3289-3291)gGc>gAc	p.G1097D	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1089D|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1093D|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1110D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1097	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAGTGAACGGCTATACGTGC	0.463000													37	47					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128023	56128023	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56128023C>T	ENST00000303039.3	+	1	333	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGCCACCCAACTGGGAGGGTT	0.408000													21	89					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143079411	143079411	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:143079411C>T	ENST00000322764.5	+	3	624	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZYX_ENST00000449423.2_Silent_p.F37F|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	93					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGGTGCCTTCCCGCCGCCCC	0.677000													16	19					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:2705076G>A	ENST00000399655.1	+	20	2965	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_ENST00000347598.4_Silent_p.T900T|CACNA1C_ENST00000327702.7_Silent_p.T900T|CACNA1C_ENST00000399603.1_Silent_p.T900T|CACNA1C_ENST00000399621.1_Silent_p.T900T|CACNA1C_ENST00000399591.1_Silent_p.T900T|CACNA1C_ENST00000402845.3_Silent_p.T900T|CACNA1C_ENST00000480911.1_Silent_p.T900T|CACNA1C_ENST00000406454.3_Silent_p.T900T|CACNA1C_ENST00000399641.1_Silent_p.T900T|CACNA1C_ENST00000399617.1_Silent_p.T900T|CACNA1C_ENST00000399637.1_Silent_p.T900T|CACNA1C_ENST00000399629.1_Silent_p.T900T|CACNA1C_ENST00000399634.1_Silent_p.T900T|CACNA1C_ENST00000399597.1_Silent_p.T900T|CACNA1C_ENST00000344100.3_Silent_p.T900T|CACNA1C_ENST00000335762.5_Silent_p.T925T|CACNA1C_ENST00000399595.1_Silent_p.T900T|CACNA1C_ENST00000399601.1_Silent_p.T900T|CACNA1C_ENST00000399606.1_Silent_p.T900T|CACNA1C_ENST00000399644.1_Silent_p.T900T|CACNA1C_ENST00000399638.1_Silent_p.T900T|CACNA1C_ENST00000399649.1_Silent_p.T900T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGACACGATCTTCACCA	0.562000													14	63					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723923	38723923	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:38723923C>T	ENST00000342213.2	-	1	1651	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	435						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCATAGACTCCTTCCTTGGCT	0.557000													17	33					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127223	146127223	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:146127223A>C	ENST00000237281.4	-	2	485	c.319T>G	c.(319-321)Tat>Gat	p.Y107D		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	107							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGATTTTCATATGATTTCCGG	0.428000													58	44					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688974	219688974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:219688974C>T	ENST00000439262.2	-	12	1344	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	PRKAG3_ENST00000545803.1_Missense_Mutation_p.E258K|PRKAG3_ENST00000529249.1_Missense_Mutation_p.E442K	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	442					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGATCACTTCCCCCAAGCTC	0.582000													15	30					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28644644	28644644	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:28644644G>A	ENST00000380982.4	-	2	230	c.149C>T	c.(148-150)tCa>tTa	p.S50L	FLT3_ENST00000537084.1_Missense_Mutation_p.S50L|FLT3_ENST00000241453.7_Missense_Mutation_p.S50L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	50					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATATGATGATGACTTCCCCAC	0.328000			"""Mis, O"""		"""AML, ALL"""								13	41					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971121	21971121	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:21971121G>A	ENST00000579755.1	-	2	572	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000304494.5_Silent_p.T79T|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S|CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000494262.1_Silent_p.T28T|CDKN2A_ENST00000578845.2_Silent_p.T28T			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCACGGGTCGGGTGAGAGTGG	0.731000	R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			71	38					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004380	248004380	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248004380G>A	ENST00000355784.2	-	1	874	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGACAGAAATGATCTTGTTGA	0.473000													16	49					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824138	160824138	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:160824138C>T	ENST00000283243.7	-	20	3022	c.2816G>A	c.(2815-2817)cGa>cAa	p.R939Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R939Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	939					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACCTTTTTTCGCTTACAGAT	0.393000													31	43					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385095	62385095	+	Missense_Mutation	SNP	C	C	T	rs147103435		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:62385095C>T	ENST00000383710.4	-	30	4397	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CADPS_ENST00000283269.9_Missense_Mutation_p.E1311K|CADPS_ENST00000357948.3_Missense_Mutation_p.E1271K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1350	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1350K(2)|p.E1311K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGTCTTCTTCGTCTTCCTCA	0.498000													50	85					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110475	151110475	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151110475G>A	ENST00000341697.3	-	9	2345	c.654C>T	c.(652-654)tcC>tcT	p.S218S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	218	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCCACTTGGAGTCATACT	0.617000													18	26					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949200	27949200	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:27949200C>T	ENST00000379992.2	-	6	1919	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	LINGO2_ENST00000308675.3_Silent_p.G490G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	490	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGTATCATTCCCAGCAGCAT	0.493000													19	13					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25334973	25334973	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:25334973G>A	ENST00000546682.1	+	0	799				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GGGACACATGGAGTGTGGGCT	0.512000													8	15					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587306	76587306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:76587306C>T	ENST00000307431.8	+	23	3951	c.3566C>T	c.(3565-3567)cCt>cTt	p.P1189L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P1117L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P1193L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P1141L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1190	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CACCCAGACCCTGTCACTGTT	0.607000													13	11					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68939517	68939517	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68939517A>G	ENST00000288368.4	+	5	779	c.502A>G	c.(502-504)Aca>Gca	p.T168A	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	168	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATTTAGTAACACCAATACA	0.343000													23	39					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148985583	148985583	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:148985583G>C	ENST00000336498.3	+	22	2436	c.2197G>C	c.(2197-2199)Gct>Cct	p.A733P	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.A331P	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	733	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGTCGGAAGGCTCGAGCCGT	0.458000													27	25					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787274	46787274	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:46787274C>T	ENST00000230588.4	+	7	398	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	130	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGTGCTGGTCTGAGGTTGGT	0.413000													40	39					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484247	43484247	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:43484247G>A	ENST00000395891.1	+	11	2081	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	HECW1_ENST00000453890.1_Silent_p.T492T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	492	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAAGCAACGACCCAGAGCC	0.647000													7	15					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195477772	195477772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195477772C>T	ENST00000463781.3	-	23	16318	c.15859G>A	c.(15859-15861)Gat>Aat	p.D5287N	MUC4_ENST00000475231.1_Missense_Mutation_p.D5235N|MUC4_ENST00000349607.4_Missense_Mutation_p.D1000N|MUC4_ENST00000346145.4_Missense_Mutation_p.D1051N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2044					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGTCACATCGCGCACGTCT	0.622000													21	26					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637362	60637362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60637362G>A	ENST00000278853.5	+	3	671	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	224					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTGAACAAACGAGATTACATA	0.562000													17	36					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870346	51870346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:51870346G>A	ENST00000371497.5	+	2	1236	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E114K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E114K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E117K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTTCCAAACGAAGCACACAA	0.527000													25	36					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26692740	26692740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:26692740C>T	ENST00000396005.3	-	15	2075	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	589					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTTCTGAGTCCGTTCTGTAA	0.438000													90	116					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41365267	41365267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:41365267G>A	ENST00000547849.1	+	16	2155	c.1836G>A	c.(1834-1836)atG>atA	p.M612I	CNTN1_ENST00000547702.1_Missense_Mutation_p.M612I|CNTN1_ENST00000360099.3_Missense_Mutation_p.M612I|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAAAACATGGTGGATTCCT	0.448000													8	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862820	13862820	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13862820C>T	ENST00000265104.4	-	29	4737	c.4633G>A	c.(4633-4635)Gag>Aag	p.E1545K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1545	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTTTGCTCAATGTCTCTC	0.428000									Kartagener syndrome				38	81					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98673359	98673359	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:98673359G>C	ENST00000261574.5	+	28	3413	c.3233G>C	c.(3232-3234)cGt>cCt	p.R1078P	IPO5_ENST00000490680.1_Missense_Mutation_p.R1060P|IPO5_ENST00000539640.1_Missense_Mutation_p.R935P	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1060					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGTGCCAAACGTCTGGCCAAT	0.418000													60	109					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048166	20048166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:20048166C>T	ENST00000400230.2	-	6	324	c.280G>A	c.(280-282)Gac>Aac	p.D94N	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.D94N|TPTE2_ENST00000382977.4_Missense_Mutation_p.D94N|TPTE2_ENST00000255310.6_Missense_Mutation_p.D57N|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.D57N|TPTE2_ENST00000382978.1_Missense_Mutation_p.D94N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	94						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAATTAGGTCGGCAAGGAGG	0.299000													29	60					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10314238	10314238	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10314238G>A	ENST00000403437.2	-	15	1537	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	481	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGTGAAGTTGATGCACAGCT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	65					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105631	151105631	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151105631C>T	ENST00000474524.1	+	35	5055	c.5017C>T	c.(5017-5019)Ccg>Tcg	p.P1673S	MED12L_ENST00000273432.4_Missense_Mutation_p.P1533S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAGGTGTCCCCGTGGGACTT	0.522000													12	103					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110022028	110022028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:110022028G>A	ENST00000369872.3	+	6	893	c.677G>A	c.(676-678)tGg>tAg	p.W226*	SYPL2_ENST00000401021.3_Nonsense_Mutation_p.W162*	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	226	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTCTTCCTGTGGGCCGGGAAC	0.577000													98	327					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716067	170716067	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:170716067C>T	ENST00000314251.3	-	10	1368	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G311E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	430					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGGACGTGGTCCTTGACTGAA	0.468000													34	53					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144809116	144809116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:144809116G>A	ENST00000388913.3	-	5	2640	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	839					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGTGGCTCTGGGCAGAGAGG	0.701000													4	15					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:207172439G>A	ENST00000374423.3	+	5	3573	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1063							nucleic acid binding|zinc ion binding	p.E1063*(2)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000													22	24					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835861	247835861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247835861C>T	ENST00000359688.2	-	1	504	c.483G>A	c.(481-483)atG>atA	p.M161I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGTCAACCTCATGATAAGAG	0.463000													11	52					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244034	46244034	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:46244034C>T	ENST00000334344.6	+	15	2300	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ARID2_ENST00000422737.1_Missense_Mutation_p.P561S|ARID2_ENST00000444670.1_Missense_Mutation_p.P320S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	710					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCTCCAATTCCTTGTGAAGT	0.438000			"""N, S, F"""		hepatocellular carcinoma								56	67					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020454	69020454	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:69020454G>A	ENST00000288368.4	+	24	3103	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	942					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTCAATGTGATGGAAGTTT	0.413000													14	27					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641880	99641880	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:99641880G>A	ENST00000345514.2	-	3	1346	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	BCL11B_ENST00000443726.2_Silent_p.F237F|BCL11B_ENST00000357195.3_Silent_p.F431F	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	431						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)		TCTTGCCGCAGAACTCGCACG	0.682000			T	TLX3	T-ALL								10	23					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999821	55999821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55999821C>T	ENST00000313264.4	-	1	916	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGGTGAGCTCCACATGTGGAG	0.438000													47	75					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999833	72999833	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:72999833T>C	ENST00000322038.5	+	2	2920	c.2336T>C	c.(2335-2337)gTg>gCg	p.V779A	TSHZ1_ENST00000580243.1_Missense_Mutation_p.V824A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	824						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGTCCAGCGTGGCTGATTCG	0.572000													26	32					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181317	68181317	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:68181317C>T	ENST00000294304.7	+	12	2770	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	888	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGACTTCGTGATGGACA	0.592000													23	41					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370169	186370169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:186370169C>T	ENST00000265029.3	+	7	999	c.898C>T	c.(898-900)Cca>Tca	p.P300S	FETUB_ENST00000382136.3_Missense_Mutation_p.P263S|FETUB_ENST00000450521.1_Missense_Mutation_p.P300S|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.P152S|FETUB_ENST00000382134.3_Missense_Mutation_p.P235S	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	300						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAAAGCTGGGCCAAGAGGATC	0.498000													34	100					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136555539	136555539	+	Missense_Mutation	SNP	C	C	T	rs142376496	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136555539C>T	ENST00000371872.4	-	16	2289	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SARDH_ENST00000371868.1_Missense_Mutation_p.E106K|SARDH_ENST00000422262.2_Missense_Mutation_p.E510K|SARDH_ENST00000439388.1_Missense_Mutation_p.E678K	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	678					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCAGGTCCTCGGAGCTGTCG	0.657000													26	49					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453289	25453289	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:25453289C>T	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AAATCATGCTCAATAGGATTA	0.527000													91	163					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727111	40727111	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:40727111C>T	ENST00000373198.3	-	28	4097	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	PTPRT_ENST00000373187.1_Missense_Mutation_p.D1266N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1275N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1276N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1256N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1265N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1269N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1266	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D1288N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTTGTAATCGAACACCAGC	0.587000													32	50					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30374518	30374518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:30374518C>T	ENST00000333027.3	+	4	419	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.Q31*|MTMR3_ENST00000401950.2_Nonsense_Mutation_p.Q31*|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Nonsense_Mutation_p.Q31*	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	31					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGAGAATCTTCAGGTAATTAT	0.378000													27	19					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71159921	71159921	+	Missense_Mutation	SNP	C	C	G	rs140787534		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71159921C>G	ENST00000234392.2	+	3	492	c.460C>G	c.(460-462)Cgc>Ggc	p.R154G		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	154					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CCAGAACCGCCGCACCAAGCA	0.617000													11	20					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120336015	120336015	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:120336015C>T	ENST00000397843.2	+	28	2849	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	ARHGEF12_ENST00000356641.3_Silent_p.L876L|ARHGEF12_ENST00000532993.1_Silent_p.L792L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	895	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACCTTTCGCCCTGGAAATGAT	0.408000			T	MLL	AML								29	23					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372905	95372905	+	Silent	SNP	G	G	A	rs143390578		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:95372905G>A	ENST00000371447.3	+	1	561	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	141	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGACATTGGGATAGTGGGTT	0.527000													17	55					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476403	88476403	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88476403G>A	ENST00000394480.1	-	16	2050	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	NTRK3_ENST00000558676.1_Missense_Mutation_p.P569S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P577S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P577S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P569S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P569S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P479S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	577	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCAGGGTGGGATCCTTCAGG	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			24	41					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095013	58095013	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:58095013C>T	ENST00000357272.4	+	14	2328	c.2163C>T	c.(2161-2163)gtC>gtT	p.V721V	FLNB_ENST00000419752.2_Silent_p.V552V|FLNB_ENST00000493452.1_Silent_p.V552V|FLNB_ENST00000490882.1_Silent_p.V721V|FLNB_ENST00000348383.5_Silent_p.V721V|FLNB_ENST00000295956.4_Silent_p.V721V|FLNB_ENST00000358537.3_Silent_p.V721V|FLNB_ENST00000429972.2_Silent_p.V721V			O75369	FLNB_HUMAN	filamin B, beta	721					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGCTGTGGTCTGGGGAGGCG	0.547000													10	30					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138376566	138376566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:138376566G>A	ENST00000477593.1	-	21	2981	c.2908C>T	c.(2908-2910)Caa>Taa	p.Q970*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.Q970*|PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.Q421*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	970	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTTTTTCCTTGTTGAATGACA	0.398000													127	237					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979454	89979454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89979454G>A	ENST00000405460.2	+	28	5812	c.5716G>A	c.(5716-5718)Gac>Aac	p.D1906N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1906					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAACATAGACTCTGATCC	0.408000													10	21					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632954	32632954	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:32632954C>T	ENST00000242310.4	-	1	2713	c.2624G>A	c.(2623-2625)gGg>gAg	p.G875E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	875					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAATCCATCCCTGTGCGTTT	0.458000													46	31					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062528	194062528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:194062528C>T	ENST00000323830.3	-	2	993	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CPN2_ENST00000429275.1_Missense_Mutation_p.E302K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	302					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGACAGTCTCCAGCTGGTTA	0.587000													22	33					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066641	6066641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:6066641C>T	ENST00000409021.3	-	9	1846	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R301K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R466K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R466K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R281K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	466	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCTGGGGTCCTGTCTGTCCT	0.532000													12	23					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207538	56207538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:56207538C>T	ENST00000288221.6	-	4	1340	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	362						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGGCTTCTTCGGTGCAATTC	0.502000													20	34					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664487	44664487	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:44664487C>T	ENST00000454036.1	+	4	496	c.420C>T	c.(418-420)ttC>ttT	p.F140F	SLC12A5_ENST00000243964.3_Silent_p.F117F|SLC12A5_ENST00000539566.1_Silent_p.F117F|SLC12A5_ENST00000372315.1_Silent_p.F117F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	140					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCATCCTCTTCCTGCGGCTCA	0.612000													21	34					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516106	138516106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:138516106C>T	ENST00000371763.1	-	5	921	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	223					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATAGAAATCTCCCTGTCCAAA	0.453000													38	46					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219430	23219430	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:23219430C>T	ENST00000400191.3	+	7	1500	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.T494T|EPHB2_ENST00000374627.1_Silent_p.T489T|EPHB2_ENST00000374630.3_Silent_p.T494T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	494	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACACGGTCACCGTGCAGGGCC	0.572000													34	35					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936461	54936461	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:54936461C>T	ENST00000293373.6	+	31	3455	c.3376C>T	c.(3376-3378)Cta>Tta	p.L1126L	NCKAP1L_ENST00000545638.2_Silent_p.L1076L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1126					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGCCTTCCACCTAAACTGAAT	0.552000													36	45					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407772	1407772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:1407772G>A	ENST00000381524.3	+	6	650	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CSF2RA_ENST00000501036.2_Missense_Mutation_p.R22Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R155Q|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R155Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	155						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTGTACATACGAAACTCAAAG	0.413000													53	109					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19206523	19206523	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:19206523T>A	ENST00000533783.1	-	6	724	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	CSRP3_ENST00000265968.3_Nonsense_Mutation_p.K162*	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	162	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TCCCCATCTTTGTCAGTGACA	0.453000													35	65					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46703605	46703605	+	Missense_Mutation	SNP	G	G	C	rs138044269		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:46703605G>C	ENST00000311956.4	-	5	542	c.445C>G	c.(445-447)Cgc>Ggc	p.R149G		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	149	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ACCCACTTGCGGTCAAACTCC	0.617000													43	47					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913246	6913246	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6913246G>A	ENST00000299459.2	-	1	584	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTCAGTATGAAGGTGGTGT	0.507000													39	29					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862761	10862761	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:10862761C>T	ENST00000559480.1	+	0	57																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGCCCAGTCCCAGGTACAGC	0.557000													51	249					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367399	11367399	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:11367399G>A	ENST00000315872.6	-	6	1297	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ROCK2_ENST00000401753.1_Silent_p.F40F	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	283	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTCATAAAGGAAAACACCTA	0.353000													28	107					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451251	155451251	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:155451251C>T	ENST00000461783.3	+	6	2167	c.894C>T	c.(892-894)tcC>tcT	p.S298S	TIAM2_ENST00000360366.4_Silent_p.S298S|TIAM2_ENST00000456144.1_Silent_p.S298S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.S298S|TIAM2_ENST00000529824.2_Silent_p.S298S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	298					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)		CCCTCTCCTCCCTCCGGGAAC	0.597000													25	16					0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179128	191179128	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:191179128C>T	ENST00000518817.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	59	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TAGAAATCTTCACCAGCCACT	0.512000													33	56					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622000													25	28					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475618	17475618	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:17475618G>A	ENST00000377873.3	-	8	1138	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	BFSP1_ENST00000544874.1_Missense_Mutation_p.P228S|BFSP1_ENST00000536626.1_Missense_Mutation_p.P228S|BFSP1_ENST00000377868.2_Missense_Mutation_p.P242S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	367	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ACATTCTTGGGGAGGGCTTTT	0.408000													43	87					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465876	24465876	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:24465876C>T	ENST00000382137.3	-	3	622	c.554G>A	c.(553-555)gGa>gAa	p.G185E	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G185E|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	185	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCTCGATCTCCTTTCCAGCC	0.567000													15	69					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104880	183104880	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:183104880G>A	ENST00000435564.1	-	3	555	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PDE1A_ENST00000331935.6_Missense_Mutation_p.R119W|PDE1A_ENST00000409365.1_Missense_Mutation_p.R103W|PDE1A_ENST00000536095.1_Missense_Mutation_p.R15W|PDE1A_ENST00000351439.5_Missense_Mutation_p.R103W|PDE1A_ENST00000346717.4_Missense_Mutation_p.R85W|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.R119W|PDE1A_ENST00000456212.1_Missense_Mutation_p.R119W|PDE1A_ENST00000358139.2_Missense_Mutation_p.R119W	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(4)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACAATGCTCCGAAATTTTGGT	0.418000													20	63					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582005	55582005	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:55582005G>A	ENST00000361849.3	-	34	5881	c.5487C>T	c.(5485-5487)tgC>tgT	p.C1829C	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Silent_p.C1787C|PCDH15_ENST00000395430.1_Silent_p.C1824C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.C1804C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.C1827C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.C1758C	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1827	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gaggtggagggcaaggaatag	0.478000										HNSCC(58;0.16)			15	43					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777101	137777101	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137777101G>A	ENST00000350339.2	+	4	218	c.204G>A	c.(202-204)aaG>aaA	p.K68K	FCN2_ENST00000291744.6_Silent_p.K106K	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	106	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTACCTGCAAGGACCTGCTAG	0.662000													24	32					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614599	36614599	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:36614599C>T	ENST00000311485.3	-	2	1281	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	374					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGTGGAATCCCCTGGATCT	0.358000									Familial Hemophagocytic Lymphohistiocytosis				33	79					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550195	123550195	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123550195C>T	ENST00000373926.3	-	3	529	c.342G>A	c.(340-342)caG>caA	p.Q114Q	FBXW2_ENST00000340778.5_Silent_p.Q114Q	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	114					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GCAAAGCGTCCTGAACAGAAT	0.438000													34	51					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124064325	124064325	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:124064325G>A	ENST00000373823.3	+	10	981	c.76G>A	c.(76-78)Gat>Aat	p.D26N	GSN_ENST00000341272.2_Missense_Mutation_p.D26N|GSN_ENST00000412819.1_Missense_Mutation_p.D26N|GSN_ENST00000373818.4_Missense_Mutation_p.D77N|GSN_ENST00000436847.1_Missense_Mutation_p.D37N|GSN_ENST00000545652.1_Missense_Mutation_p.D34N|GSN_ENST00000449733.1_Missense_Mutation_p.D26N|GSN_ENST00000394353.2_Missense_Mutation_p.D37N|GSN_ENST00000373808.2_Missense_Mutation_p.D26N			P06396	GELS_HUMAN	gelsolin	77					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAGAAGTTCGATCTGGTGCC	0.582000													24	75					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470030	92470030	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92470030G>A	ENST00000267622.4	-	11	4663	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1430					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTGTTAGTGAAATTTTCAT	0.338000			T	PDGFRB	AML								28	33					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304591	137304591	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:137304591G>A	ENST00000453654.1	-	8	611	c.72C>T	c.(70-72)atC>atT	p.I24I	DGKI_ENST00000424189.2_Silent_p.I324I|DGKI_ENST00000288490.5_Silent_p.I324I|DGKI_ENST00000446122.1_Silent_p.I324I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	324	Poly-Ala.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCACCTTAATGATCCAAGTGG	0.507000													56	68					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226369	110226369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:110226369C>T	ENST00000418703.2	-	12	2138	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	TRPV4_ENST00000346520.2_Missense_Mutation_p.D622N|TRPV4_ENST00000392719.2_Missense_Mutation_p.D635N|TRPV4_ENST00000536838.1_Missense_Mutation_p.D648N|TRPV4_ENST00000261740.2_Missense_Mutation_p.D682N|TRPV4_ENST00000541794.1_Missense_Mutation_p.D635N|TRPV4_ENST00000537083.1_Missense_Mutation_p.D622N|TRPV4_ENST00000544971.1_Missense_Mutation_p.D575N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	682					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATCTCCAGGTCGCCCATGCCG	0.567000													41	69					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5489325	5489325	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:5489325C>T	ENST00000296564.7	+	19	6905	c.6683C>T	c.(6682-6684)cCa>cTa	p.P2228L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2228										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCAGCAATCCAGCAGAAATT	0.473000													12	25					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587197	42587197	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42587197C>T	ENST00000289957.2	+	5	875	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	249					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCTGTCTTTCCTAACAGTTC	0.438000													31	55					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75037036	75037036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:75037036C>T	ENST00000310715.3	-	22	2812	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.E367K|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E898K|TTC18_ENST00000394865.1_Missense_Mutation_p.E898K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	898							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGTATGGTCTCCATGAAGATG	0.383000													14	73					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479788	66479788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:66479788G>A	ENST00000256447.4	-	3	1040	c.883C>T	c.(883-885)Cag>Tag	p.Q295*		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	295					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTGAAGCACTGAAATGTGGTG	0.463000													40	57					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367210	105367210	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:105367210C>T	ENST00000297581.2	+	3	1184	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	379					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GACCTGGGTTCCTCTCAGTGT	0.393000													30	64					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048413	42048413	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:42048413C>T	ENST00000372584.1	-	3	3070	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E686K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E686K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E686K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	686	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			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)				TGACTCTTTTCAGCTTCTGGA	0.483000													17	80					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27183467	27183467	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:27183467G>A	ENST00000380036.4	+	8	1483	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	TEK_ENST00000406359.4_Silent_p.R304R|TEK_ENST00000519097.1_Silent_p.R200R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	347					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCATACAGAGGATGACCCCAA	0.383000													84	75					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412003	51412003	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:51412003C>T	ENST00000319760.6	-	1	445	c.393G>A	c.(391-393)ttG>ttA	p.L131L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCATGATGGTCAAATAGTGCA	0.463000													30	41					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409557	22409557	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22409557G>A	ENST00000390441.2	+	0	103																											TTTTCCCTAGGAAGAACCCGT	0.433000													8	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751296	13751296	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13751296G>A	ENST00000265104.4	-	65	11206	c.11102C>T	c.(11101-11103)cCa>cTa	p.P3701L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3701	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3701R(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTGTAGGCTGGGTTAGGCAA	0.418000									Kartagener syndrome				25	62					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934316	39934316	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:39934316C>T	ENST00000564288.1	+	96	22578	c.21801C>T	c.(21799-21801)gtC>gtT	p.V7267V	MACF1_ENST00000317713.7_Silent_p.V5202V|MACF1_ENST00000361689.2_Silent_p.V5202V|MACF1_ENST00000545844.1_Silent_p.V5202V|MACF1_ENST00000289893.4_Silent_p.V5710V|MACF1_ENST00000372915.3_Silent_p.V7160V|MACF1_ENST00000539005.1_Silent_p.V5072V|MACF1_ENST00000567887.1_Silent_p.V7304V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7160	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCGGCTGGTCCGTATTCTGC	0.438000													10	38					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778731	146778731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:146778731C>T	ENST00000343218.5	-	11	1734	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	DPYSL3_ENST00000534907.1_Missense_Mutation_p.G25R|DPYSL3_ENST00000398514.3_Missense_Mutation_p.G399R	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	399					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTTCCCTTGCGGGGA	0.502000													65	86					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114154101	114154101	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:114154101A>G	ENST00000259335.4	-	30	3629	c.3630T>C	c.(3628-3630)gtT>gtC	p.V1210V	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Silent_p.V1032V	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTCATGTTTAACTCTAAACC	0.353000													5	10					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_ENST00000327655.6_Silent_p.F138F|GPR97_ENST00000450388.3_Silent_p.F228F|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587000													25	29					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778159	40778159	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:40778159G>A	ENST00000381782.2	+	7	1414	c.919G>A	c.(919-921)Gtt>Att	p.V307I	NSUN7_ENST00000316607.5_Missense_Mutation_p.V307I|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATGGTACACAGTTTCCCACAT	0.368000													21	26					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689114	109689114	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:109689114C>T	ENST00000277225.5	+	3	3210	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	ZNF462_ENST00000457913.1_Missense_Mutation_p.S974F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	974					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						AATACAGAATCCCAGACCCTG	0.498000													24	53					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817347	38817347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:38817347C>T	ENST00000263372.3	+	2	544	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	146						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCGCCTGTCACTGCTGCTG	0.687000													14	57					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513132	70513132	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70513132G>A	ENST00000503640.1	-	1	286	c.231C>T	c.(229-231)ccC>ccT	p.P77P	UGT2A1_ENST00000514019.1_Silent_p.P77P|UGT2A1_ENST00000286604.4_Silent_p.P77P|UGT2A1_ENST00000512704.1_Silent_p.P77P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	77					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGCCAAAGGGCACCCTAT	0.403000													10	32					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835511	172835511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:172835511C>T	ENST00000351008.3	-	2	194	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	4					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCTACTGCTTCCTGCATCCAT	0.418000													35	80					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58768329	58768329	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:58768329G>A	ENST00000355431.3	+	3	411	c.38G>A	c.(37-39)gGa>gAa	p.G13E	ARID4A_ENST00000431317.2_Missense_Mutation_p.G13E|ARID4A_ENST00000395168.3_Missense_Mutation_p.G13E|ARID4A_ENST00000348476.3_Missense_Mutation_p.G13E	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	13					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGACAGTGGGAACCGATGTC	0.448000													23	30					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370377	53370377	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:53370377C>T	ENST00000536120.1	-	10	1322	c.505G>A	c.(505-507)Gag>Aag	p.E169K	ECHDC2_ENST00000371522.4_Missense_Mutation_p.E215K|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E184K			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	215					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCCCCTCCTCGTTCTGGGCC	0.667000													10	33					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21159335	21159335	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:21159335G>A	ENST00000255882.6	-	11	1373	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	PI4KA_ENST00000572273.1_Silent_p.S371S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	371					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTTTGAGGGGGCTCAGCTCAT	0.562000													45	32					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52221309	52221309	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:52221309G>A	ENST00000282588.6	+	19	3063	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	869					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTTTTTCAGGAATTGAGGT	0.338000													17	26					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337254	69337254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69337254G>A	ENST00000305363.4	+	5	467	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	135	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGAAACTGTAGATAAAATTGT	0.363000													36	142					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149080	52149080	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52149080C>T	ENST00000360844.6	-	3	696	c.655G>A	c.(655-657)Gga>Aga	p.G219R	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	219	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACCTGAGCTCCTTGGCGTTTC	0.652000													18	22					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939016	14939016	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14939016G>A	ENST00000285046.5	+	5	2859	c.2748_splice	c.e5-1	p.D917_splice	FGD5_ENST00000543601.1_Splice_Site_p.D676_splice|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	917	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTGTTTCAGGATTTCCATGG	0.562000													4	6					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89391867	89391867	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:89391867G>A	ENST00000532352.1	+	0	483							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGCTCTGGGAAAATTGTAA	0.348000													8	8					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680314	95680314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:95680314G>A	ENST00000433389.2	+	10	1259	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ESRP1_ENST00000423620.2_Missense_Mutation_p.E357K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E357K|ESRP1_ENST00000454170.2_Missense_Mutation_p.E357K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	357	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGGGGAAAGGAAGGCATCCT	0.527000													182	350					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798531	38798531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38798531G>A	ENST00000449082.2	-	8	1069	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	357					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCGTTCCCAGGAATCCTGTGT	0.527000													9	34					0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941529	44941529	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:44941529G>A	ENST00000340160.3	+	7	833	c.594G>A	c.(592-594)agG>agA	p.R198R	TSPAN18_ENST00000520358.2_Silent_p.R198R	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	198						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCCTGGGAAGGAGCCTATTCC	0.632000													38	66					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063665	103063665	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:103063665G>A	ENST00000264260.2	+	10	1797	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G261E	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	403					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGACGCTTGGGGGTAAGTTT	0.537000													62	71					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914776	39914776	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:39914776C>T	ENST00000425673.1	+	17	3241	c.2916C>T	c.(2914-2916)tcC>tcT	p.S972S	PLEKHG2_ENST00000458508.2_Silent_p.S942S|PLEKHG2_ENST00000409794.3_Silent_p.S1001S|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1001					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTCCATCCACCGCCTTTT	0.502000													54	81					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540642	28540642	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28540642C>T	ENST00000452236.2	-	4	3641	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1008					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atatttttttcatggcaagac	0.299000													34	44					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													33	78					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872049	108872049	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:108872049C>T	ENST00000329106.2	+	4	421	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P141S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCAGAAATCCCAAGGATTG	0.423000													25	100					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111290825	111290825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:111290825G>A	ENST00000309957.2	+	10	1144	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	CARKD_ENST00000458711.2_Missense_Mutation_p.D201N|CARKD_ENST00000424185.2_Missense_Mutation_p.D222N|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CACCACCTCCGACATGATCGC	0.637000													38	49					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57957262	57957262	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:57957262C>T	ENST00000564448.1	-	18	1600	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	CNGB1_ENST00000251102.8_Missense_Mutation_p.D520N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	520					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCAGCCTCATCATCCTCAGAG	0.577000													7	16					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:72063173G>A	ENST00000305425.4	-	7	2106	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_ENST00000354591.4_Missense_Mutation_p.P360S|DACH1_ENST00000359684.2_Missense_Mutation_p.P614S|DACH1_ENST00000313174.7_Missense_Mutation_p.P414S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000													49	174					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977030	30977030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:30977030C>T	ENST00000262519.8	+	8	2514	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	610	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						Acctccccctcccccgccgcc	0.697000													12	14					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622235	137622235	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137622235G>A	ENST00000371817.3	+	7	1492	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	360	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATGGCGAGGGGGAGGAGAA	0.602000													17	69					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120840528	120840528	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:120840528G>A	ENST00000273666.6	+	7	917	c.646G>A	c.(646-648)Gat>Aat	p.D216N	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D216N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	216					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACATTTAAGCGATAGCCCAAG	0.294000													17	33					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104172317	104172317	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:104172317G>A	ENST00000020673.5	-	6	2095	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	PSD_ENST00000406432.1_Silent_p.S523S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	523	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACCAGCTGGCTCAGGGGTG	0.632000													10	11					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745484	135745484	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:135745484C>T	ENST00000375845.3	-	7	988	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E207K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E337K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGAGTGATTTCAATTTTGTTA	0.398000													7	45					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47701578	47701578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:47701578C>T	ENST00000525123.1	-	13	2248	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	AGBL2_ENST00000528244.1_Missense_Mutation_p.G617S|AGBL2_ENST00000357610.3_Missense_Mutation_p.G655S|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.G655S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	655					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACATGATAACCTAAGGACTTC	0.403000													13	43					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837933	51837933	+	Silent	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:51837933T>A	ENST00000251076.5	-	8	1064	c.777A>T	c.(775-777)tcA>tcT	p.S259S	DMXL2_ENST00000543779.2_Silent_p.S259S|DMXL2_ENST00000449909.3_Silent_p.S259S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	259						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCATGACATGAAGTTAACA	0.378000													46	98					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													14	68					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113478	34113478	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:34113478C>T	ENST00000341394.4	+	15	1769	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P527L|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P446L|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P527L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P527L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	527					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCCCCAGTTCCTCCTGTTAAT	0.378000													29	27					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172974	108172974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:108172974C>T	ENST00000273353.3	-	22	2394	c.2338G>A	c.(2338-2340)Ggg>Agg	p.G780R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	780	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCAGAAACCCAGCTTTAAAA	0.398000													15	33					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252883	50252883	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50252883G>A	ENST00000420502.1	+	0	518							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAGTCCTCAGGGGTCGTGGGT	0.582000													23	65					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41009403	41009403	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41009403G>A	ENST00000399564.4	-	32	3849	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	MROH2B_ENST00000506092.2_Silent_p.I688I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.I1133M(1)									CAACCCTGGCGATGTCATCTT	0.507000													32	86					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35237568	35237568	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:35237568G>C	ENST00000381318.3	+	32	4292	c.4004G>C	c.(4003-4005)cGc>cCc	p.R1335P	ITSN1_ENST00000399367.3_Missense_Mutation_p.R1330P|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1330P|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.R1335P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1335	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCTGCAGCCGCCAGCTCAAC	0.592000													9	12					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277921	27277921	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:27277921C>T	ENST00000320567.5	-	2	1039	c.951G>A	c.(949-951)gaG>gaA	p.E317E		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	317										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAACGACCCTCCGAGGTCT	0.637000													5	6					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71510466	71510466	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:71510466G>A	ENST00000262213.2	-	3	381	c.212C>T	c.(211-213)tCc>tTc	p.S71F	TRAM1_ENST00000521425.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.S40F|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	71					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GTAATAAAGGGACACTGATTC	0.333000													19	46					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:130095498G>A	ENST00000265379.6	+	3	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_ENST00000432398.2_Silent_p.V162V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000													5	11					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734926	52734926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52734926C>T	ENST00000306051.2	+	1	496	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	PTGDR_ENST00000553372.1_Missense_Mutation_p.L132F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	132						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGAGTGCTGGCTCTCCCTAGG	0.622000													48	60					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458607	121458607	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121458607G>A	ENST00000257570.5	-	6	1572	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	434	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGACCTGGATCTCGGAGG	0.542000													27	172					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:3216752G>A	ENST00000602557.1	-	22	3784	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000													47	74					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408935	82408935	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:82408935G>A	ENST00000370728.1	+	8	1325	c.680G>A	c.(679-681)aGg>aAg	p.R227K	LPHN2_ENST00000370717.2_Missense_Mutation_p.R227K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R227K|LPHN2_ENST00000370721.1_Missense_Mutation_p.R231K|LPHN2_ENST00000394879.1_Missense_Mutation_p.R227K|LPHN2_ENST00000370725.1_Missense_Mutation_p.R227K|LPHN2_ENST00000370727.1_Missense_Mutation_p.R227K|LPHN2_ENST00000319517.6_Missense_Mutation_p.R227K|LPHN2_ENST00000359929.3_Missense_Mutation_p.R227K|LPHN2_ENST00000370730.1_Missense_Mutation_p.R227K|LPHN2_ENST00000335786.5_Missense_Mutation_p.R227K|LPHN2_ENST00000370723.1_Missense_Mutation_p.R227K|LPHN2_ENST00000271029.4_Missense_Mutation_p.R227K|LPHN2_ENST00000370713.1_Missense_Mutation_p.R227K			O95490	LPHN2_HUMAN	latrophilin 2	227	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAAAGAACGAGGAATATTGTG	0.393000													11	43					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641952	57641952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57641952G>A	ENST00000254181.4	+	4	2363	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	USP29_ENST00000598197.1_Missense_Mutation_p.D637N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	637					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACTTTAGAGATAGGGCAAT	0.483000													12	29					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151536460	151536460	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151536460C>T	ENST00000368849.3	+	4	380	c.318C>T	c.(316-318)atC>atT	p.I106I	TUFT1_ENST00000392712.3_Silent_p.I81I|TUFT1_ENST00000368848.2_Silent_p.I81I|TUFT1_ENST00000538902.1_Silent_p.I125I|TUFT1_ENST00000353024.3_Silent_p.I47I	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	106					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGTACATCCAGGAGGTGG	0.443000													16	34					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704299	40704299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:40704299C>T	ENST00000372771.4	+	8	3952	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1309					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATACCACAAACCATTCCATTG	0.383000													8	19					0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4685923	4685923	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:4685923C>T	ENST00000270560.3	+	3	415	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	128						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCTACCACTTCGAAGACACCG	0.607000													24	32					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27225028	27225028	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:27225028C>T	ENST00000286096.4	+	3	794	c.621C>T	c.(619-621)atC>atT	p.I207I	CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000441782.2_Silent_p.I245I|KDM8_ENST00000380948.2_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	207					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GGCCCGTGATCCTGAAAGGCG	0.577000													14	18					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106227	55106227	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55106227G>A	ENST00000453777.1	+	4	338	c.168G>A	c.(166-168)caG>caA	p.Q56Q	LILRA1_ENST00000251372.3_Silent_p.Q56Q|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGAGACCCAGGAGTACCGTC	0.582000													24	56					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195191	83195191	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:83195191C>T	ENST00000398309.2	-	17	2429	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	DLG2_ENST00000280241.8_Silent_p.Q692Q|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000531015.1_Silent_p.Q620Q|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000376104.2_Silent_p.Q758Q|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Silent_p.Q758Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	653						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACTGGTTTCCTGCTCACTCT	0.403000													24	49					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113332402	113332402	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113332402G>A	ENST00000389385.4	+	20	2292	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.G599R|RPH3A_ENST00000420983.2_Missense_Mutation_p.G599R|RPH3A_ENST00000543106.2_Missense_Mutation_p.G599R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G550R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G595R|RPH3A_ENST00000447659.2_Missense_Mutation_p.G550R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	599	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACCGGACATGGGAAAGAAGGC	0.433000													13	19					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458628	121458628	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121458628C>T	ENST00000257570.5	-	6	1551	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	427	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGATGGTCTCCAGCAGATAGA	0.547000													35	181					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299163	125299163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:125299163C>T	ENST00000538699.1	-	2	825	c.745G>A	c.(745-747)Gat>Aat	p.D249N	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.D249N	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	249										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCTCCACATCCCTCGGACGG	0.632000													15	12					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787050	151787050	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151787050C>T	ENST00000356728.6	-	5	1024	c.870_splice	c.e5+1	p.K290_splice	RORC_ENST00000318247.6_Splice_Site_p.K311_splice|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Splice_Site_p.K365_splice	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	311	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCCTCACCTTCCTCTGGT	0.647000													7	9					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480687	59480687	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59480687G>A	ENST00000307552.2	-	1	650	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CAATGAGAGGGGGATGCTAAG	0.517000													21	53					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833912	44833912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44833912G>A	ENST00000354340.4	-	4	449	c.398C>T	c.(397-399)tCc>tTc	p.S133F	CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.S138F|ZNF112_ENST00000337401.4_Missense_Mutation_p.S139F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S156F	NM_013380.3	NP_037512.3			zinc finger protein 112																		CTGGCCGAGGGAATTACCTTG	0.403000													6	44					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034415	90034415	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:90034415T>G	ENST00000317005.2	+	1	448	c.290T>G	c.(289-291)gTg>gGg	p.V97G		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	97	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GGGATTCCAGTGTCCGGAACG	0.403000													15	43					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985763	108985763	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:108985763G>A	ENST00000392806.3	-	2	565	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	133						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TTCTTCTTGGGGAAGGACGAT	0.652000													6	10					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106647957	106647957	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:106647957A>G	ENST00000515279.1	+	4	1336	c.1116A>G	c.(1114-1116)ggA>ggG	p.G372G	GSTCD_ENST00000507281.1_Silent_p.G285G|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Silent_p.G372G|GSTCD_ENST00000394730.3_Silent_p.G285G|GSTCD_ENST00000360505.5_Silent_p.G372G			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	372						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TATTTATAGGAGGACCAAGAC	0.363000													13	50					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136348	64136348	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:64136348G>T	ENST00000395254.3	+	2	676	c.396G>T	c.(394-396)atG>atT	p.M132I	ZNF365_ENST00000410046.3_Missense_Mutation_p.M132I|ZNF365_ENST00000395255.3_Missense_Mutation_p.M132I|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	191										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)					ACACTGCCATGGACCTCCATG	0.517000													12	47					5.50884e-06	5.55502e-06	1	1	0
BTK	695	broad.mit.edu	37	X	100617210	100617210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100617210G>A	ENST00000308731.7	-	7	702	c.539C>T	c.(538-540)tCt>tTt	p.S180F	BTK_ENST00000372880.1_Missense_Mutation_p.S180F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	180					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCCGGTGAGAACTCCCAGG	0.493000									Agammaglobulinemia, X-linked				37	15					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945033	52945033	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:52945033C>T	ENST00000295213.4	+	8	1527	c.1153C>T	c.(1153-1155)Cta>Tta	p.L385L	SPATA18_ENST00000419395.2_Silent_p.L353L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	385					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCATCTTGATCTATATGATTC	0.378000													14	66					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541808	70541808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:70541808C>T	ENST00000310961.5	+	24	4457	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	LRRC7_ENST00000415775.2_Missense_Mutation_p.R673C|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1389C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1389						centrosome|focal adhesion|nucleolus	protein binding	p.R1389C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTCAGCATCGCAGCCGGGA	0.507000													9	56					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2635510	2635510	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2635510C>T	ENST00000329276.5	+	5	1002	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	162					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTAATGTGAACCGGGTGGACA	0.502000													78	124					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137642	97137642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:97137642G>A	ENST00000524981.3	+	21	2864	c.2864G>A	c.(2863-2865)gGa>gAa	p.G955E				Q6ZTY8	CL063_HUMAN		929										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCAAAAACAGGAAAATTAAAT	0.398000													23	28					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815318	23815318	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:23815318A>G	ENST00000264867.2	-	8	1907	c.1788T>C	c.(1786-1788)tcT>tcC	p.S596S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	596	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTACCTTGAAGAGGATCTAC	0.393000													22	17					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87436815	87436815	+	Missense_Mutation	SNP	C	C	T	rs150419056		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87436815C>T	ENST00000338056.3	+	10	1546	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.H362Y	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	379										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTACCGAAAACACAATAAACA	0.393000													6	23					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55910510	55910510	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:55910510G>A	ENST00000371263.3	+	7	742	c.634_splice	c.e7+1	p.R211_splice	SPO11_ENST00000371260.4_Splice_Site_p.R173_splice|SPO11_ENST00000345868.4_Splice_Site_p.R173_splice	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	211			R -> W (in dbSNP:rs28368082).		female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAGGAATTCGGAGTATCCTTT	0.303000								Editing and processing nucleases					6	12					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771991	24771991	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:24771991G>A	ENST00000221166.5	+	1	1467	c.685G>A	c.(685-687)Gat>Aat	p.D229N	NEFM_ENST00000437366.2_Missense_Mutation_p.D229N|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.D229N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	229	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCGCTGCAGGATGAGGTGGC	0.642000													13	23					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431406	140431406	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140431406C>T	ENST00000306549.3	+	1	428	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		117	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCCTTCCGGGCCGAGG	0.512000													37	46					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18803289	18803289	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:18803289C>T	ENST00000396576.2	+	6	1131	c.630C>T	c.(628-630)ttC>ttT	p.F210F	CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377319.3_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Silent_p.F237F|CACNB2_ENST00000324631.7_Silent_p.F265F|CACNB2_ENST00000377315.4_Silent_p.F217F|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377329.4_Silent_p.F211F	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	265					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAATGCCCTTCTTTAAGAAGG	0.453000													32	35					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797846	71797846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:71797846G>A	ENST00000269500.5	-	4	487	c.152C>T	c.(151-153)tCa>tTa	p.S51L	FBXO15_ENST00000419743.2_Missense_Mutation_p.S127L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	51										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTCCAATTTGATCTTGCAGG	0.358000													11	13					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537890	212537890	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:212537890G>A	ENST00000342788.4	-	14	2025	c.1716_splice	c.e14+1	p.P572_splice	ERBB4_ENST00000402597.1_Splice_Site_p.P572_splice|ERBB4_ENST00000436443.1_Splice_Site_p.P572_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	572	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGGCTTACCGGTCCATGGCA	0.413000										TSP Lung(8;0.080)			36	48					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28624343	28624343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:28624343G>A	ENST00000380982.4	-	6	712	c.631C>T	c.(631-633)Cca>Tca	p.P211S	FLT3_ENST00000537084.1_Missense_Mutation_p.P211S|FLT3_ENST00000241453.7_Missense_Mutation_p.P211S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	211					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACAACAGCTGGACTTTCTTCT	0.393000			"""Mis, O"""		"""AML, ALL"""								19	32					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746976	94746976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:94746976G>A	ENST00000399300.2	-	3	1876	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S	RBM12B_ENST00000517700.1_Missense_Mutation_p.P555S|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	555							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAGTCTTCTGGAGGGTGCCTG	0.542000													32	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089082	9089082	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9089082G>A	ENST00000397910.4	-	1	2936	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	911	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						GGGATGAAGAGAACTGAGCTG	0.512000													4	36					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910162	139910162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:139910162C>T	ENST00000265662.5	-	23	3626	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1160H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1159H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1159	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAGATGGCGCGGCGCGCGTA	0.711000													7	10					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183397	197183397	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:197183397C>T	ENST00000260983.2	-	9	2399	c.2217G>A	c.(2215-2217)cgG>cgA	p.R739R	HECW2_ENST00000409111.1_Silent_p.R383R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	739	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCTCCCCCTCCGCTGCCAGA	0.662000													10	30					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634725	122634725	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122634725C>T	ENST00000195173.4	-	13	2004	c.1701G>A	c.(1699-1701)ggG>ggA	p.G567G	SEMA5B_ENST00000357599.3_Silent_p.G567G|SEMA5B_ENST00000451055.2_Silent_p.G621G			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	567					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCCCGGGCCCCCAGGCATG	0.617000													15	35					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74032749	74032749	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:74032749G>A	ENST00000296805.3	-	15	1839	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	GFM2_ENST00000509430.1_Missense_Mutation_p.A461V|GFM2_ENST00000427854.2_Missense_Mutation_p.A461V|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.A414V	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	461					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTCCCGTTCGGCTCTACGAGC	0.468000													28	55					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184107206	184107206	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:184107206C>A	ENST00000204604.1	+	23	3110	c.2864C>A	c.(2863-2865)tCt>tAt	p.S955Y	CHRD_ENST00000545352.1_Missense_Mutation_p.S497Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.S915Y|CHRD_ENST00000450923.1_Missense_Mutation_p.S954Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	955					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAAGGCTCTTAGGGAGCA	0.597000													14	24					0.00400662	0.00402434	1	1	0
VNN2	8875	broad.mit.edu	37	6	133072469	133072469	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:133072469C>T	ENST00000326499.6	-	5	1139	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.G286R	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	339					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAATAAATCCCCTGAAAGTG	0.433000													15	42					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14139030	14139030	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:14139030T>G	ENST00000431365.2	+	1	71	c.14T>G	c.(13-15)aTg>aGg	p.M5R	RLN3_ENST00000585987.1_Missense_Mutation_p.M5R	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	5						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GCCAGGTACATGCTGCTGCTG	0.642000													19	40					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	34005933	34005933	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:34005933G>A	ENST00000335606.6	-	2	407	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	AMACR_ENST00000441713.2_Silent_p.L107L|AMACR_ENST00000382085.3_Silent_p.L107L|AMACR_ENST00000382072.2_Silent_p.L107L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Silent_p.L107L	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	107			L -> P (in CBAS4; inactive enzyme).		bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AATCCACTCAGCCTGGCATAA	0.448000													29	62					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686338	55686338	+	Silent	SNP	G	G	A	rs141734238		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55686338G>A	ENST00000354308.3	-	7	1107	c.738C>T	c.(736-738)tcC>tcT	p.S246S	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.S246S|SYT5_ENST00000590851.1_Silent_p.S242S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	246					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S246S(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGCGGAGGGAGAAGCAGA	0.597000													20	32					0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42703977	42703977	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42703977G>A	ENST00000595337.1	-	5	681	c.594C>T	c.(592-594)atC>atT	p.I198I	DEDD2_ENST00000596251.1_Silent_p.I198I|DEDD2_ENST00000336034.4_Silent_p.I193I|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	198					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCCGGAGCCGGATGTCTGCAG	0.667000													3	8					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542686	28542686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28542686C>T	ENST00000452236.2	-	3	2413	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	599					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGATAAAAATCTTAGTCTGCT	0.388000													9	28					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554030	223554030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:223554030G>A	ENST00000446656.3	+	3	320	c.320G>A	c.(319-321)gGg>gAg	p.G107E		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	107					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TATATATTTGGGTTTCACCCC	0.338000													22	15					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178882054	178882054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:178882054G>A	ENST00000507870.1	+	3	513	c.51G>A	c.(49-51)tgG>tgA	p.W17*																	lung(8)|prostate(1)	9						ATGCAATCTGGAAAAAGTACG	0.318000													47	45					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950119	96950119	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:96950119G>A	ENST00000323853.5	-	31	4446	c.4369C>T	c.(4369-4371)Cac>Tac	p.H1457Y	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1457	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCGATAAGGTGGACCTCATCC	0.547000													30	38					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001064	58001064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:58001064C>T	ENST00000548198.1	+	3	1922	c.418C>T	c.(418-420)Cct>Tct	p.P140S	DTX3_ENST00000337737.3_Missense_Mutation_p.P140S|DTX3_ENST00000548804.1_Missense_Mutation_p.P140S|DTX3_ENST00000551632.1_Missense_Mutation_p.P143S			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	140	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGGGctcccccctcctcctcc	0.706000													4	6					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183446572	183446572	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:183446572C>T	ENST00000305135.5	+	7	940	c.745C>T	c.(745-747)Cat>Tat	p.H249Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	249	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAGCATTAATCATTTTGTCAA	0.413000													20	42					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715194	55715194	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55715194G>A	ENST00000379668.2	+	1	849	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTGAGCAAGGGAGTGGCAAT	0.428000													35	58					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34190205	34190205	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34190205G>A	ENST00000373381.4	-	18	2972	c.2796C>T	c.(2794-2796)agC>agT	p.S932S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	892	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGAGTCACAGCTGAAGGTCA	0.572000													12	55					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:18159571C>T	ENST00000396275.2	+	3	1183	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512000													38	73					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485556	59485556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:59485556C>T	ENST00000240328.3	+	7	2109	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	610					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CTCCCGGAGCCCCTTCCTGGG	0.706000													7	27					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241686696	241686696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:241686696G>A	ENST00000498729.2	-	29	3266	c.3020C>T	c.(3019-3021)tCg>tTg	p.S1007L	KIF1A_ENST00000320389.7_Missense_Mutation_p.S906L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	906					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGCAGTTCCCGACTGGCGGAC	0.577000													11	19					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282638	117282638	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117282638G>A	ENST00000003084.6	+	23	3996	c.3864G>A	c.(3862-3864)gtG>gtA	p.V1288V	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.V1227V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1288	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTTTGGAGTGATACCACAGG	0.373000									Cystic Fibrosis				5	13					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20502478G>A	ENST00000315693.2	-	1	441	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCATAGGAGGATAACAGTAG	0.463000													19	126					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710192	117710192	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117710192C>T	ENST00000317775.6	-	10	2522	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E613K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	613					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCTTACCTCCAGGATATTG	0.597000													17	59					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546699	11546699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:11546699C>T	ENST00000389362.4	-	3	348	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000													18	448					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927075	196927075	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196927075C>T	ENST00000367415.4	+	4	599	c.485C>T	c.(484-486)tCa>tTa	p.S162L	CFHR2_ENST00000367421.3_Missense_Mutation_p.S162L|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	162	Sushi 3.					extracellular region		p.S162L(1)		large_intestine(2)|ovary(1)|skin(3)	6						GACATTACTTCATTCCTGTTG	0.378000													14	61					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536986	146536986	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:146536986G>A	ENST00000361727.3	+	3	908	c.392G>A	c.(391-393)gGg>gAg	p.G131E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	131	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATCAAGATGGGAATATCTGG	0.413000										HNSCC(39;0.1)			7	25					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37891816	37891816	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37891816G>A	ENST00000403299.1	-	15	2470	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	CARD10_ENST00000406271.3_Missense_Mutation_p.P466S|CARD10_ENST00000251973.5_Missense_Mutation_p.P752S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	752					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGAGTGAGGGGGTCAACCCGG	0.642000													8	14					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235109	50235109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:50235109G>A	ENST00000242827.6	-	4	666	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	206					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		AAAGTTCACTGAAACTTCTTC	0.388000													23	44					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582230	82582230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82582230G>A	ENST00000423517.2	-	5	8376	c.8039C>T	c.(8038-8040)tCa>tTa	p.S2680L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2680L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2611					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGGTTGCTGAAACCTCAGT	0.448000													27	51					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	T	rs104894226		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:534285C>T	ENST00000417302.1	-	2	225	c.38G>A	c.(37-39)gGt>gAt	p.G13D	HRAS_ENST00000397594.1_Missense_Mutation_p.G13D|HRAS_ENST00000397596.2_Missense_Mutation_p.G13D|HRAS_ENST00000451590.1_Missense_Mutation_p.G13D|HRAS_ENST00000311189.7_Missense_Mutation_p.G13D|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			29	35					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454265	121454265	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121454265T>C	ENST00000288757.3	-	1	35	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	C12orf43_ENST00000539736.1_Missense_Mutation_p.S5G|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.S5G|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	5										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGTGCCACTGGGCGCCGCC	0.607000													66	225					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003926	187003926	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187003926G>A	ENST00000296795.2	+	4	1190	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	TLR3_ENST00000504367.1_Missense_Mutation_p.M85I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	362					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACCTTAACATGGAAGATAATG	0.353000													13	29					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812779	31812779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31812779C>T	ENST00000334067.3	+	1	183	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	45						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CAACTGGGCTCCTCTCTCTAC	0.493000													37	60					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517811	1517811	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:1517811C>T	ENST00000381623.3	-	3	1756	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SIRPD_ENST00000381621.1_Silent_p.L190L			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	189						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTGAGTCCCAGCAGCCGGA	0.617000													29	64					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540684	55540684	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55540684T>G	ENST00000220676.1	+	4	4390	c.4242T>G	c.(4240-4242)caT>caG	p.H1414Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1414					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAAGAAACATAGTTCTCTAG	0.343000													18	40					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569165	99569165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:99569165C>T	ENST00000331335.5	-	5	1825	c.1355G>A	c.(1354-1356)aGg>aAg	p.R452K	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R212K|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R212K|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R28K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R452K	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	452						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						TGTGGTCATCCTTTCTTTTTC	0.363000													29	61					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081851	66081851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:66081851C>T	ENST00000349533.6	+	15	2341	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	LEPR_ENST00000344610.8_Missense_Mutation_p.S719L|LEPR_ENST00000371060.3_Missense_Mutation_p.S719L|LEPR_ENST00000371058.1_Missense_Mutation_p.S719L|LEPR_ENST00000371059.3_Missense_Mutation_p.S719L|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	719	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCATCAATTCAATTGGTGCT	0.403000													5	31					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200012959	200012959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:200012959C>T	ENST00000367362.3	+	3	506	c.260C>T	c.(259-261)cCc>cTc	p.P87L	NR5A2_ENST00000236914.3_Missense_Mutation_p.P41L|NR5A2_ENST00000544748.1_Missense_Mutation_p.P15L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	87					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GAGCTTTGTCCCGTGTGTGGA	0.373000													7	30					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941277	22941277	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22941277C>T	ENST00000397104.3	-	5	1160	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	ZNF99_ENST00000596209.1_Silent_p.E478E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTCCAGTAT	0.353000													13	11					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837869	93837869	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93837869G>A	ENST00000315765.9	+	16	2866	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	953	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAGATCCACGAGATTTTAAG	0.343000													58	99					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4738879	4738879	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:4738879G>A	ENST00000302640.8	+	33	4635	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	ITPR1_ENST00000357086.4_Missense_Mutation_p.E1435K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1420K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E1444K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1435K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E1429K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1444					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGTGGATACAGAGGTGGAAAT	0.388000													6	11					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504009	39504009	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:39504009C>T	ENST00000518318.2	+	10	1734	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	POU6F2_ENST00000559001.1_Silent_p.I545I|POU6F2_ENST00000403058.1_Silent_p.I600I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	600	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGAGTTTATCGGGAGTGAAC	0.572000													5	26					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101589156	101589156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:101589156G>A	ENST00000375011.3	+	3	664	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	222	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGCGAGGGGCGATGTTCTGAC	0.657000													4	7					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065818	32065818	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32065818C>T	ENST00000375244.3	-	2	359	c.158G>A	c.(157-159)gGa>gAa	p.G53E	TNXB_ENST00000479795.1_Missense_Mutation_p.G53E|TNXB_ENST00000375247.2_Missense_Mutation_p.G53E			P22105	TENX_HUMAN	tenascin XB	53					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						AGAGGGGCTTCCCACTCCAGC	0.642000													192	232					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599346	29599346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:29599346G>A	ENST00000431530.3	+	1	599	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	171						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.E181*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGACAATGAGGAACTGAGGAG	0.532000													33	72					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353064	219353064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:219353064G>A	ENST00000258399.3	-	15	1965	c.1553C>T	c.(1552-1554)cCt>cTt	p.P518L	USP37_ENST00000418019.1_Missense_Mutation_p.P518L|USP37_ENST00000454775.1_Missense_Mutation_p.P518L|USP37_ENST00000415516.1_Missense_Mutation_p.P446L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	518					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AATTGAACGAGGAGGGAGTGG	0.318000													40	43					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805406	125805406	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:125805406G>A	ENST00000346248.5	-	2	965	c.323C>T	c.(322-324)tCa>tTa	p.S108L	CHST15_ENST00000435907.1_Missense_Mutation_p.S108L|CHST15_ENST00000421115.1_Missense_Mutation_p.S108L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	108					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAAAGGTGATGAGATCAGAAG	0.478000													28	71					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052220	68052220	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:68052220C>T	ENST00000344096.3	+	3	1946	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	DYRK2_ENST00000393555.3_Silent_p.F438F	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	511	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCCTTGACTTCTTAAAACAGT	0.622000													9	52					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130526	20130526	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:20130526C>T	ENST00000334554.7	+	10	1514	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P458L|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P366L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	458						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGGGGGCCCCCCACGCCCCAC	0.697000													24	19					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504306	47504306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:47504306C>T	ENST00000426342.1	-	8	1579	c.833G>A	c.(832-834)aGg>aAg	p.R278K	MDGA2_ENST00000357362.3_Missense_Mutation_p.R278K|MDGA2_ENST00000399232.2_Missense_Mutation_p.R576K|MDGA2_ENST00000439988.2_Missense_Mutation_p.R507K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	507	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACATTTCCCTAGATACATT	0.423000													14	73					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266255	124266255	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124266255G>A	ENST00000368984.3	+	4	954	c.826G>A	c.(826-828)Gga>Aga	p.G276R		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	276	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCGGCCGGGAGAGTTCGT	0.587000													10	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060378	9060378	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9060378G>A	ENST00000397910.4	-	3	27271	c.27068C>T	c.(27067-27069)cCt>cTt	p.P9023L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9025	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						TGCCTTGTAAGGAACAGTGCT	0.527000													10	62					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16332214	16332214	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:16332214C>T	ENST00000338560.7	+	10	1904	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	TRPV2_ENST00000577397.1_Missense_Mutation_p.A72V|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	502					sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.A502V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTGTGTCTGCGCTGGTGCTG	0.582000													30	71					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284447	130284447	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:130284447C>T	ENST00000257359.6	-	5	2251	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	515	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCACTTCCTCCTCAGGTAGAC	0.632000													31	26					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848968	99848968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:99848968G>A	ENST00000373031.4	+	3	474	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	86						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCTGTGACCAGAACTGAAATA	0.413000													26	10					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971130	123971130	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123971130C>T	ENST00000369005.1	+	9	7530	c.7190C>T	c.(7189-7191)tCc>tTc	p.S2397F	TACC2_ENST00000515603.1_Missense_Mutation_p.S2352F|TACC2_ENST00000369004.3_Missense_Mutation_p.S475F|TACC2_ENST00000369001.1_Missense_Mutation_p.S101F|TACC2_ENST00000369000.1_Missense_Mutation_p.S101F|TACC2_ENST00000260733.3_Missense_Mutation_p.S475F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2401F|TACC2_ENST00000360561.3_Missense_Mutation_p.S475F|TACC2_ENST00000513429.1_Missense_Mutation_p.S543F|TACC2_ENST00000358010.1_Missense_Mutation_p.S543F|TACC2_ENST00000368999.1_Missense_Mutation_p.S475F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2397F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2401F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2397	SPAZ.					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)				TCCCCAGCCTCCTTTGAGATC	0.512000													13	64					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21230343G>A	ENST00000233242.1	-	26	9524	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373000													110	462					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20421462	20421462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:20421462G>A	ENST00000222573.3	+	6	1598	c.914G>A	c.(913-915)gGa>gAa	p.G305E	ITGB8_ENST00000537992.1_Missense_Mutation_p.G170E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	305	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCCAATGACGGAAACTGTCAT	0.428000													20	24					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284379	167284379	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:167284379C>T	ENST00000409855.1	-	17	2898	c.2772G>A	c.(2770-2772)agG>agA	p.R924R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	924					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGCAGGTTTTCCTGATGTTCT	0.448000													10	20					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057335	57057335	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:57057335G>A	ENST00000308249.2	+	7	1340	c.1210_splice	c.e7-1	p.G404_splice		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	413	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTTCCCGCAGGAGATGCTGAA	0.483000													17	28					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:20517570G>A	ENST00000375099.3	+	2	600	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522000													30	29					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540264	187540264	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187540264G>A	ENST00000441802.2	-	10	7685	c.7476C>T	c.(7474-7476)ttC>ttT	p.F2492F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2492	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTTCTGAAGGAAAGCAGGAC	0.438000										HNSCC(5;0.00058)			107	126					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953993	161953993	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:161953993G>A	ENST00000294794.3	-	8	2148	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	OLFML2B_ENST00000367940.2_Silent_p.F576F|OLFML2B_ENST00000367938.1_Silent_p.F58F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	575	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATTGTAGTAGAAGGCGCCAT	0.587000													7	49					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087156	102087156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:102087156G>A	ENST00000356387.2	+	4	657	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ORAI2_ENST00000478730.1_Missense_Mutation_p.R141H|ORAI2_ENST00000473939.1_Missense_Mutation_p.R141H|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Missense_Mutation_p.R141H	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	141						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCGCATGAGCGCATGCACCCC	0.607000													4	107					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110967	36110967	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:36110967C>T	ENST00000203166.5	+	16	1485	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	487					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACCCCGCGTCCCCAAGGGGC	0.677000													27	113					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134158130	134158130	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:134158130C>T	ENST00000392638.2	+	5	724	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	LRRC27_ENST00000432555.2_Missense_Mutation_p.L50F|LRRC27_ENST00000368613.4_Missense_Mutation_p.L177F|LRRC27_ENST00000368612.1_Missense_Mutation_p.L115F|LRRC27_ENST00000344079.5_Missense_Mutation_p.L177F|LRRC27_ENST00000368610.3_Missense_Mutation_p.L115F|LRRC27_ENST00000356571.4_Missense_Mutation_p.S157F|LRRC27_ENST00000368615.3_Missense_Mutation_p.L177F|LRRC27_ENST00000368614.3_Missense_Mutation_p.L177F			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	177										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGAACACTCTCTCCCCAGAAA	0.478000													36	40					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196436863	196436863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196436863C>T	ENST00000367433.5	-	7	614	c.513G>A	c.(511-513)tgG>tgA	p.W171*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.W171*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.W171*|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	171						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTTTGGCAAGCCAACAGTTCA	0.294000													13	23					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41012777	41012777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41012777C>T	ENST00000399564.4	-	30	3493	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	MROH2B_ENST00000506092.2_Missense_Mutation_p.G570S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTCTCCAGACCGTCCAGCATT	0.478000													34	68					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639286	7639286	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7639286A>G	ENST00000359156.4	-	10	2469	c.2267T>C	c.(2266-2268)gTt>gCt	p.V756A	CD163_ENST00000432237.2_Missense_Mutation_p.V756A|CD163_ENST00000396620.3_Missense_Mutation_p.V789A|CD163_ENST00000541972.1_Missense_Mutation_p.V744A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	756	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGTCTGCAAACCACGTGGGC	0.547000													35	110					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42264332	42264332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:42264332G>A	ENST00000379310.3	-	33	4014	c.3946C>T	c.(3946-3948)Ccg>Tcg	p.P1316S	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTGCTGGGCGGCTCCTCTTTC	0.428000													28	51					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678539	87678539	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:87678539C>T	ENST00000284262.2	+	2	1300	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	353					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AACCTCATCCCCCTGCGGGCC	0.662000													20	17					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405618	40405618	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:40405618G>A	ENST00000542756.1	-	3	1847	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	SLC8A1_ENST00000332839.4_Silent_p.V608V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.V608V|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.V608V|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	608	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATTACCTTGACTGATATTG	0.438000													84	115					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676946	234676946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234676946G>A	ENST00000360418.3	+	4	1165	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	UGT1A1_ENST00000305208.5_Missense_Mutation_p.V389M|UGT1A3_ENST00000482026.1_Missense_Mutation_p.V390M|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V386M|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V390M|UGT1A5_ENST00000373414.3_Missense_Mutation_p.V390M|UGT1A6_ENST00000373424.1_Missense_Mutation_p.V121M|UGT1A10_ENST00000373445.1_Missense_Mutation_p.V386M|UGT1A8_ENST00000373450.4_Missense_Mutation_p.V386M|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V386M|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V386M|UGT1A6_ENST00000305139.6_Missense_Mutation_p.V388M|UGT1A6_ENST00000406651.1_Missense_Mutation_p.V121M			P22309	UD11_HUMAN		389					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGTTCCCATGGTGATGATGCC	0.488000													28	78					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255960	15255960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:15255960G>A	ENST00000378116.4	-	8	1633	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	543						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTACTGATCGCGACATCATA	0.537000													23	128					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942280	22942280	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22942280A>C	ENST00000397104.3	-	4	493	c.494T>G	c.(493-495)aTa>aGa	p.I165R	ZNF99_ENST00000596209.1_Missense_Mutation_p.I144R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACACTGAAATATTTTTCCCTG	0.284000													14	44					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579234	52579234	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52579234C>T	ENST00000313234.5	-	2	535	c.438G>A	c.(436-438)gtG>gtA	p.V146V	KRT80_ENST00000394815.2_Silent_p.V146V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	146	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTCCTGGCTCACTTTGCGCA	0.607000													40	51					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160921002	160921002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:160921002C>T	ENST00000368029.3	-	4	329	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	91	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACCAGGGTCCAGCCGCCACC	0.572000													18	23					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395268	49395268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:49395268G>A	ENST00000374201.3	-	17	2535	c.2233C>T	c.(2233-2235)Ctc>Ttc	p.L745F	FRMPD2_ENST00000305531.3_Missense_Mutation_p.L720F|FRMPD2_ENST00000407470.4_Missense_Mutation_p.L713F	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	745					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTCCAGAGAGAGAGTCCCAG	0.567000													8	19					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587335	42587335	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42587335C>T	ENST00000289957.2	+	5	1013	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	295					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATTCCTCTCATTGGAGAGT	0.408000													65	112					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170033035	170033035	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:170033035C>T	ENST00000263816.3	-	54	10742	c.10457G>A	c.(10456-10458)gGa>gAa	p.G3486E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3486	EGF-like 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAACCCTTTTCCTCCTGGCTT	0.517000													16	45					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928683	4928683	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4928683C>T	ENST00000359350.4	+	1	84	c.84C>T	c.(82-84)tcC>tcT	p.S28S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		TTTGGTTCTCCATCCCCATTT	0.453000													22	83					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851143	155851143	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:155851143C>T	ENST00000368324.4	+	4	1393	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SYT11_ENST00000539162.1_Silent_p.L73L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	380	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCGAGTTCCTCGTTATCGACT	0.522000													138	178					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520438	52520438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52520438G>A	ENST00000216286.5	-	5	1287	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	NID2_ENST00000541773.1_Missense_Mutation_p.P377S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	430						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATTTCCGAAGGCACTGGCCCT	0.537000													15	61					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745902	54745902	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:54745902C>T	ENST00000440558.2	-	3	403	c.355_splice	c.e3+1	p.G119_splice	LILRA6_ENST00000419410.2_Splice_Site_p.G119_splice|LILRA6_ENST00000391735.3_Splice_Site_p.G119_splice|LILRA6_ENST00000396365.2_Splice_Site_p.G119_splice|LILRA6_ENST00000270464.5_Splice_Site_p.G119_splice|LILRB3_ENST00000407860.2_Splice_Site_p.G119_splice|LILRA6_ENST00000245621.5_Splice_Site_p.G119_splice					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)		GTCCTCTCACCTGTCATCACC	0.642000													45	139					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307605	98307605	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:98307605T>C	ENST00000264193.2	-	4	1123	c.905A>G	c.(904-906)gAg>gGg	p.E302G		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	302						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACAAGCCTCCTTCAGAGT	0.433000													23	42					0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28420432	28420432	+	Silent	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:28420432T>C	ENST00000240093.3	+	8	2383	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	FZD3_ENST00000537916.1_Silent_p.H635H	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	635					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGTCACGACATAGCAGCATCA	0.453000													14	39					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113545030	113545030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113545030C>T	ENST00000546530.1	-	16	1817	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	RASAL1_ENST00000548055.1_Missense_Mutation_p.G510E|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.G510E|RASAL1_ENST00000446861.3_Missense_Mutation_p.G510E	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	510	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCCCAGGTTTCCAATGCTCTG	0.612000													4	23					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058673	67058673	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:67058673C>T	ENST00000295568.4	+	4	1723	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	KBTBD8_ENST00000460576.1_Missense_Mutation_p.S115F|KBTBD8_ENST00000417314.2_Missense_Mutation_p.S557F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	557										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAAAAAATTCCCTTTACCAA	0.433000													42	76					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127869	10127869	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10127869C>T	ENST00000591589.1	+	2	489	c.300C>T	c.(298-300)atC>atT	p.I100I	RDH8_ENST00000171214.1_Silent_p.I80I			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	80					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCAGCTGTATCCAGGGAGAAG	0.597000													14	18					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660768	47660768	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:47660768A>T	ENST00000397708.1	-	27	5844	c.5590T>A	c.(5590-5592)Tgt>Agt	p.C1864S	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.C1864S|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1864					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCGACAAACACTGCGCCAAG	0.522000													23	62					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95583617	95583617	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:95583617C>T	ENST00000317968.4	+	12	1766	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	PDLIM5_ENST00000437932.1_Missense_Mutation_p.P435S|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.P422S|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P573S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	544	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGTGAATTTCCCATAGAAGC	0.393000													39	56					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101041962	101041962	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:101041962G>A	ENST00000284382.4	-	4	516	c.93C>T	c.(91-93)ctC>ctT	p.L31L	CERS3_ENST00000538112.2_Silent_p.L31L|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Silent_p.L31L	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	31						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTACAAAGACGAGTCCATCGT	0.373000													15	30					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46629749	46629749	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:46629749C>T	ENST00000470495.1	-	1	1535	c.88G>A	c.(88-90)Gat>Aat	p.D30N	HOXB3_ENST00000311626.4_Missense_Mutation_p.D30N|HOXB3_ENST00000498678.1_Missense_Mutation_p.D30N|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.D30N|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_Intron			P14651	HXB3_HUMAN	homeobox B3	30					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGGGGACATCGAAGCCGAAG	0.647000													32	41					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284683	52284683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52284683C>T	ENST00000301190.6	+	5	1180	c.953C>T	c.(952-954)cCc>cTc	p.P318L	ANKRD33_ENST00000340970.4_Missense_Mutation_p.P193L|ANKRD33_ENST00000538991.1_Missense_Mutation_p.P124L|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	193										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTGGCCAGTCCCTTCGTCACC	0.642000													9	12					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243914	233243914	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:233243914G>A	ENST00000392027.2	+	3	467	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	66				M -> V (in Ref. 3; AAA51709).		anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCAGGGATGGGGGTGTCTA	0.617000													33	39					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118870139	118870139	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:118870139G>A	ENST00000295622.1	+	3	1651	c.1611G>A	c.(1609-1611)taG>taA	p.*537*	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	0										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAGGTATAGAATTGGAGAA	0.358000													59	115					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375427	175375427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175375427C>T	ENST00000367674.1	-	3	1132	c.424G>A	c.(424-426)Gag>Aag	p.E142K	TNR_ENST00000263525.2_Missense_Mutation_p.E142K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	142					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E142K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCAGCATCTCGATCCGGCTC	0.602000													36	33					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424495	117424495	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117424495G>A	ENST00000160373.3	-	5	2173	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	694										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGGGGTTAGGGAGGGTGACC	0.507000													24	76					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:86394514G>A	ENST00000361669.2	+	2	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_ENST00000394720.2_Missense_Mutation_p.G16E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G18E|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	18					synaptic transmission	integral to plasma membrane		p.G18E(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTCAAAGGGATTTTTACTC	0.398000													44	73					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634361	156634361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:156634361C>T	ENST00000296518.7	+	7	1407	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L400F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L400F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L400F|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.L142F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L400F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L400F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	400					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGGGCTCTACCTCTCAGACAT	0.478000													30	22					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997655	185997655	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:185997655C>T	ENST00000265022.3	-	9	1316	c.777G>A	c.(775-777)ctG>ctA	p.L259L	DGKG_ENST00000544847.1_Silent_p.L259L|DGKG_ENST00000382164.4_Silent_p.L259L|DGKG_ENST00000344484.4_Silent_p.L259L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	259					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CATCCATCCCCAGGAGGACCA	0.498000													40	69					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956812	68956812	+	Silent	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68956812G>T	ENST00000288368.4	+	8	1207	c.930G>T	c.(928-930)gtG>gtT	p.V310V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	310	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGAGAATGTGGATGATGGCA	0.428000													32	75					8.4185e-14	8.53114e-14	1	1	0
CASR	846	broad.mit.edu	37	3	121980473	121980473	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:121980473G>A	ENST00000498619.1	+	4	1029	c.591G>A	c.(589-591)atG>atA	p.M197I	CASR_ENST00000490131.1_Missense_Mutation_p.M197I|CASR_ENST00000296154.5_Missense_Mutation_p.M197I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	197					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACTGCCATGGCAGACATCA	0.532000													53	107					0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938510	22938510	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22938510G>A	ENST00000501897.1	+	0	205					NR_038873.1																						ACAGGCAAAAGCTGAAAGGGT	0.532000													11	39					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573634	56573634	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56573634G>A	ENST00000323456.5	-	16	1993	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	MTMR4_ENST00000579925.1_Silent_p.P566P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	623						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACGAGTCAGGGGGCTGCTTG	0.512000													22	36					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			73	40					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124744069	124744069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:124744069C>T	ENST00000397801.1	+	12	2080	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	ROBO3_ENST00000538940.1_Nonsense_Mutation_p.R608*	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	630	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTTTCTGGTTCGAGCAGTGGG	0.592000													36	25					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410507	159410507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159410507C>T	ENST00000423932.3	+	1	996	c.959C>T	c.(958-960)tCc>tTc	p.S320F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	320					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGGAAGTTTTCCTGACCATGT	0.493000													19	40					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113686	94113686	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94113686A>G	ENST00000243673.2	-	4	1072	c.901T>C	c.(901-903)Ttt>Ctt	p.F301L	GPR83_ENST00000539203.2_Missense_Mutation_p.F259L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGAGGGCAAAGAGGACTACC	0.527000													25	48					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54618224	54618224	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:54618224C>T	ENST00000230640.5	+	2	458	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	68					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTAGATTTCGAAGGTACAG	0.318000													58	101					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296779	9296779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9296779C>T	ENST00000344248.2	+	1	501	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	108					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTTTTTCCTATTCTGGA	0.512000													34	140					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622642	75622642	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75622642C>T	ENST00000294638.5	+	9	1539	c.875C>T	c.(874-876)aCc>aTc	p.T292I	LHX8_ENST00000356261.3_Missense_Mutation_p.T282I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TCATCCTCCACCCCAGTCACA	0.507000													49	137					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23499999	23499999	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23499999C>T	ENST00000309859.4	-	6	589	c.507G>A	c.(505-507)gtG>gtA	p.V169V	GGA2_ENST00000567468.1_Silent_p.V169V	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGATTTTATCCACTGGTAGTT	0.408000													25	103					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688979	26688979	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:26688979G>A	ENST00000529632.2	+	2	898	c.702G>A	c.(700-702)caG>caA	p.Q234Q	SEZ6L_ENST00000248933.6_Silent_p.Q234Q|SEZ6L_ENST00000404234.3_Silent_p.Q234Q|SEZ6L_ENST00000402979.1_Silent_p.Q7Q|SEZ6L_ENST00000403121.1_Silent_p.Q7Q|SEZ6L_ENST00000360929.3_Silent_p.Q234Q|SEZ6L_ENST00000343706.4_Silent_p.Q234Q	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	234						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGGCCCCCCAGGAGGACACCA	0.622000													8	13					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634273	70634273	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:70634273C>T	ENST00000381269.2	-	2	1620	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SLC8A3_ENST00000357887.3_Silent_p.G289G|SLC8A3_ENST00000534137.1_Silent_p.G289G|SLC8A3_ENST00000528359.1_Silent_p.G289G|SLC8A3_ENST00000356921.2_Silent_p.G289G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	289					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCATTTTCCCATCCATCT	0.473000													22	18					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31258670	31258670	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:31258670G>A	ENST00000579849.1	+	3	555	c.124G>A	c.(124-126)Gat>Aat	p.D42N	TMEM98_ENST00000578289.1_Missense_Mutation_p.D42N|TMEM98_ENST00000394642.3_Missense_Mutation_p.D42N	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	42						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCAGCGCTATGATTCTAAGTG	0.547000													11	5					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032768	30032768	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:30032768G>A	ENST00000328224.6	-	2	2691	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	486						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGACCCCAATGAAGAGGAAGA	0.527000													26	77					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691461	117691461	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117691461C>T	ENST00000317775.6	-	17	3315	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.G911E	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	877	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGCCAGGGGTCCAGCACTCTC	0.557000													38	45					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346534	29346534	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:29346534C>T	ENST00000558402.1	+	5	1046	c.447C>T	c.(445-447)ccC>ccT	p.P149P	APBA2_ENST00000558259.1_Silent_p.P149P|APBA2_ENST00000411764.1_Silent_p.P149P|APBA2_ENST00000558330.1_Silent_p.P149P|APBA2_ENST00000561069.1_Silent_p.P149P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	149					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCGCACCCCCACGGCCACG	0.667000													28	25					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84518604	84518604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:84518604C>T	ENST00000395226.2	+	10	1150	c.932C>T	c.(931-933)tCa>tTa	p.S311L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S311L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	311					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AACAATACTTCAGTCATGATG	0.308000													7	33					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													5	36					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57081173	57081173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57081173G>A	ENST00000532437.1	-	4	1300	c.989C>T	c.(988-990)cCc>cTc	p.P330L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P330L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	330	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCGGGGCAGGGAGAAGCCTG	0.662000													6	9					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93496705	93496705	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:93496705C>T	ENST00000394196.4	+	14	2689	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	CHD2_ENST00000557381.1_Missense_Mutation_p.P541S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	541	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATAGTCGTCCCTTTATCCAC	0.478000													53	66					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46863646	46863646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:46863646C>T	ENST00000393382.3	-	12	1782	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	TTLL6_ENST00000433608.2_Missense_Mutation_p.M240I	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	499						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTCTTCTTCATTTGGAAGG	0.517000													183	312					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852630	137852630	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137852630C>T	ENST00000409968.1	+	4	1316	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	THSD7B_ENST00000543459.1_Missense_Mutation_p.P239S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P349S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P380S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAGGAGTGTCCTGAACTTCT	0.512000													12	40					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923964	230923964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:230923964C>T	ENST00000295190.4	-	2	563	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	35						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGAGCACCATCATCCAAGCCC	0.502000													10	53					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13393715	13393715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:13393715C>T	ENST00000389708.3	+	13	1181	c.826C>T	c.(826-828)Cga>Tga	p.R276*	ARNTL_ENST00000403290.1_Nonsense_Mutation_p.R276*|ARNTL_ENST00000401424.1_Nonsense_Mutation_p.R233*|ARNTL_ENST00000403510.3_Nonsense_Mutation_p.R232*|ARNTL_ENST00000389707.4_Nonsense_Mutation_p.R275*|ARNTL_ENST00000403482.3_Nonsense_Mutation_p.R274*|ARNTL_ENST00000396441.3_Nonsense_Mutation_p.R275*|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000497429.1_3'UTR			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	276					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTAGCAGATCGAAAAAGCTT	0.512000													44	135					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551587	35551587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:35551587C>T	ENST00000262626.2	+	9	1502	c.677C>T	c.(676-678)tCt>tTt	p.S226F	HPN_ENST00000597419.1_Missense_Mutation_p.S68F|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.S226F	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	226	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCCAGGCCTCTCCCCACGGT	0.657000													21	59					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764874	77764874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:77764874G>A	ENST00000521891.2	+	10	6165	c.5717G>A	c.(5716-5718)gGa>gAa	p.G1906E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1880E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1861E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1861E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGCCAGAGGAAATGCTGCC	0.443000										HNSCC(33;0.089)			6	18					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928874	2928874	+	Silent	SNP	G	G	A	rs141461698	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:2928874G>A	ENST00000397461.1	+	9	1290	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CNTN4_ENST00000358480.3_Silent_p.G83G|CNTN4_ENST00000427331.1_Silent_p.G302G|CNTN4_ENST00000418658.1_Silent_p.G302G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	302	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTCCAGAGGGAAAAATGTAG	0.373000													14	26					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158260952	158260952	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158260952C>T	ENST00000368170.3	+	2	369	c.90C>T	c.(88-90)gtC>gtT	p.V30V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	30					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.V30V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCTTCCATGTCATCCAGATCT	0.478000													11	40					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705095	52705095	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:52705095C>T	ENST00000287727.3	+	4	2178	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P669L|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.P669L|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.P669L	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	669					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCAGATAGCCCAGATAATGAT	0.468000													26	70					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43389845	43389845	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:43389845C>T	ENST00000296088.7	+	7	2398	c.2094C>T	c.(2092-2094)gtC>gtT	p.V698V	SNRK_ENST00000454177.1_Silent_p.V698V|SNRK_ENST00000437827.1_Silent_p.V492V|SNRK_ENST00000429705.2_Silent_p.V698V	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	698					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGGGCAGGTCCCTGCAGTGG	0.458000													25	62					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793303	8793303	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:8793303G>A	ENST00000447110.1	-	8	922	c.798C>T	c.(796-798)ttC>ttT	p.F266F	PIK3R5_ENST00000581552.1_Silent_p.F266F|PIK3R5_ENST00000584803.1_Silent_p.F266F	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	266				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACACCCCAGGGAAGCCAGCTT	0.642000													13	45					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253362	242253362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:242253362G>A	ENST00000442594.2	-	11	1638	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	PLD5_ENST00000536534.1_Missense_Mutation_p.L469F|PLD5_ENST00000427495.1_Missense_Mutation_p.L407F	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	469						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGATAACAAGGCCCGTGCCA	0.418000													16	54					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452555	53452555	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53452555C>T	ENST00000314250.6	+	17	1639	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	TENC1_ENST00000379902.3_Missense_Mutation_p.A326V|TENC1_ENST00000549700.1_Missense_Mutation_p.A450V|TENC1_ENST00000546602.1_Missense_Mutation_p.A450V|TENC1_ENST00000451358.1_Missense_Mutation_p.A450V|TENC1_ENST00000314276.3_Missense_Mutation_p.A460V|TENC1_ENST00000552570.1_Missense_Mutation_p.A450V	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	450					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ACTGAGCCAGCCGTGCGCTGG	0.637000													5	45					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921783	60921783	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:60921783G>A	ENST00000252999.3	-	8	1212	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	LAMA5_ENST00000370677.3_Silent_p.S382S|LAMA5_ENST00000370692.3_Silent_p.S382S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	382	Laminin EGF-like 2.				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)	TGCCATCCAGGCTCTGGCTGG	0.657000													10	25					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47492896	47492896	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47492896C>T	ENST00000404338.3	+	4	4000	c.4000C>T	c.(4000-4002)Ccg>Tcg	p.P1334S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1334	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCCCTGGTCCCGTATAACAT	0.537000													41	103					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656161	138656161	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:138656161G>A	ENST00000251691.4	+	33	6344	c.6178G>A	c.(6178-6180)Gac>Aac	p.D2060N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2060					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGGGGCCAGGACTCCCCGCT	0.597000													4	0					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595854	36595854	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:36595854C>T	ENST00000299440.5	+	2	1112	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	334					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGCCGATATCCATGCTTCCC	0.507000									Familial Hemophagocytic Lymphohistiocytosis				34	26					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719191	155719191	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155719191G>A	ENST00000510397.1	+	3	559	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	RBM46_ENST00000514866.1_Missense_Mutation_p.R127Q|RBM46_ENST00000281722.3_Missense_Mutation_p.R127Q	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATGAAATTCGACCAGGGAAG	0.333000													19	27					0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67524189	67524189	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:67524189C>T	ENST00000261880.5	-	5	602	c.498G>A	c.(496-498)ctG>ctA	p.L166L	AAGAB_ENST00000561452.1_Silent_p.L57L|AAGAB_ENST00000542650.1_Silent_p.L57L	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	166					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CATTGGCATTCAGGGCTTGGA	0.368000													87	154					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123226035	123226035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:123226035G>A	ENST00000264501.4	+	56	9942	c.9569G>A	c.(9568-9570)cGa>cAa	p.R3190Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3190Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3190Q			Q2LD37	K1109_HUMAN	KIAA1109	3190					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTCTAACCGACTTCAAACC	0.393000													21	20					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484100	152484100	+	Silent	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152484100C>A	ENST00000334269.2	+	2	266	c.90C>A	c.(88-90)ccC>ccA	p.P30P		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	30	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgtcctcccaagtgtcccc	0.592000													17	28					3.45872e-05	3.48256e-05	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41785031	41785031	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:41785031C>T	ENST00000392006.3	+	6	1009	c.836C>T	c.(835-837)cCc>cTc	p.P279L	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P179L|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P179L|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P179L|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P279L|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P190L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	279	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGCCTGACCCCCACGTGGTC	0.567000													39	65					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845207	107845207	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:107845207G>A	ENST00000285311.3	-	4	1389	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DKK2_ENST00000510463.1_Silent_p.F182F|DKK2_ENST00000513208.1_Silent_p.F128F	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	228	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CGCAACGCTGGAAAATTTCCA	0.493000													21	87					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35608171	35608171	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:35608171C>T	ENST00000287272.2	+	12	1820	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	UNC5D_ENST00000453357.2_Silent_p.L664L|UNC5D_ENST00000404895.2_Silent_p.L669L|UNC5D_ENST00000420357.1_Silent_p.L602L|UNC5D_ENST00000449677.1_Silent_p.L245L|UNC5D_ENST00000416672.1_Silent_p.L674L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	669	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCATGTGCTCCTGGACAGCT	0.493000													44	94					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75250454	75250454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:75250454C>T	ENST00000244869.2	+	5	605	c.439C>T	c.(439-441)Cga>Tga	p.R147*	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	147	Arg/Lys-rich (basic).		R -> Q (in dbSNP:rs35275884).		angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.R147R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GTACAGAAATCGAAAAAGTAA	0.418000													11	28					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764127	205764127	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:205764127G>A	ENST00000367137.3	-	10	2241	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	409						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGACCCGGGCTGAGCGAG	0.567000													23	31					0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151733957	151733957	+	Silent	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151733957A>T	ENST00000368830.3	-	5	642	c.558T>A	c.(556-558)ccT>ccA	p.P186P	MRPL9_ENST00000368829.3_Intron|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	186					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAACTATTTCAGGGTTCAGCT	0.463000													17	49					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37163158	37163158	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:37163158A>T	ENST00000421307.1	-	6	675	c.253T>A	c.(253-255)Tcc>Acc	p.S85T	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S85T|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.S68T	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	85	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCGGTGGGAATACCTGGCC	0.413000													33	66					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170166	32170166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32170166C>T	ENST00000375023.3	-	21	3580	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1148	EGF-like 29.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCGTGGTCTCTGAGCAGCTG	0.652000													116	282					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247224	7247224	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7247224C>T	ENST00000158762.3	+	8	824	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	206	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCAGCAGGGCCATGAGGAGC	0.652000													6	7					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597426	20597426	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:20597426G>A	ENST00000504154.1	+	31	3541	c.3289G>A	c.(3289-3291)Ggc>Agc	p.G1097S	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1089S|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1093S|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1110S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1097	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCAGTGAACGGCTATACGTG	0.468000													39	47					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47755678	47755678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:47755678G>A	ENST00000263773.5	-	10	1597	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	529										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTCCAATCTGAAACTACAAT	0.318000													13	18					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45912886	45912886	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:45912886G>A	ENST00000379056.1	-	4	493	c.323C>T	c.(322-324)cCa>cTa	p.P108L	TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379060.4_Missense_Mutation_p.P130L|TPT1_ENST00000379055.1_Missense_Mutation_p.P108L|TPT1_ENST00000309246.5_Missense_Mutation_p.P142L|TPT1_ENST00000530705.1_Missense_Mutation_p.P142L			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	142					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CATGCCATCTGGATTCATGTT	0.353000													16	43					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535170	50535170	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50535170C>T	ENST00000267845.3	-	12	1678	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	HDC_ENST00000543581.1_Missense_Mutation_p.E393K	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	426					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAGCTATTTCCTTTAACACA	0.473000													25	50					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005753	78005753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:78005753G>A	ENST00000302536.2	+	8	1237	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	362							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCAGGTGAAGGAGGCCATGCA	0.512000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	112	109					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45811939	45811939	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45811939G>A	ENST00000327619.5	+	15	1810	c.1435_splice	c.e15-1	p.G479_splice	EYA2_ENST00000317304.6_Splice_Site_p.G449_splice|EYA2_ENST00000357410.3_Splice_Site_p.G400_splice	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	479					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GTGCGTGCAGGGAAGGAGAGC	0.537000													57	95					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44071198	44071198	+	Splice_Site	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:44071198A>T	ENST00000359947.4	+	19	3729		c.e19-1		PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCCCACCCAGGTGGTTCTA	0.632000													11	36					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96129881	96129881	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:96129881C>T	ENST00000467865.1	+	0	289				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cacctgtttTCATGCTATCTC	0.547000			T	TRA@	T-ALL								19	19					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968147	64968147	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:64968147G>A	ENST00000399262.2	-	10	3500	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	JMJD1C_ENST00000399251.1_Silent_p.F875F|JMJD1C_ENST00000542921.1_Silent_p.F912F|JMJD1C_ENST00000402544.1_Silent_p.F875F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACAATGTAGTGAAATAGTTAC	0.378000													37	128					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17165341	17165341	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:17165341A>T	ENST00000539941.2	-	7	849	c.641T>A	c.(640-642)tTa>tAa	p.L214*	COPS3_ENST00000268717.5_Nonsense_Mutation_p.L234*|COPS3_ENST00000439936.2_Nonsense_Mutation_p.L214*	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	234	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTGCCAAGTAATATCAAAGA	0.338000													8	26					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1484878	1484878	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:1484878G>A	ENST00000297508.7	-	6	1003	c.828C>T	c.(826-828)gcC>gcT	p.A276A	MICALL2_ENST00000405088.4_Silent_p.A64A	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	276						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGCCTCCTGGGCCTTCTGTG	0.677000													3	17					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171545	187171545	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187171545C>T	ENST00000264690.6	+	7	934	c.747C>T	c.(745-747)atC>atT	p.I249I	KLKB1_ENST00000513864.1_Silent_p.I249I	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	249	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.I249I(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATGGAAAATCGAGTCACAAA	0.448000													16	62					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510793	48510793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48510793G>A	ENST00000446524.1	+	1	525	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGGTTGGAGGATTTCTGCAC	0.438000													34	69					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27225029	27225029	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:27225029C>T	ENST00000286096.4	+	3	795	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000441782.2_Silent_p.L246L|KDM8_ENST00000380948.2_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	208					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GCCCGTGATCCTGAAAGGCGT	0.582000													14	18					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597675	136597675	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136597675G>A	ENST00000371872.4	-	3	637	c.380C>T	c.(379-381)gCc>gTc	p.A127V	SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.A127V|SARDH_ENST00000371867.1_Missense_Mutation_p.A38V|SARDH_ENST00000298628.5_Missense_Mutation_p.A127V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	127					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGAGTGTGGGCCAGAAGCTC	0.682000													35	50					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961408	73961408	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73961408G>A	ENST00000373468.1	-	3	3635	c.2984C>T	c.(2983-2985)tCa>tTa	p.S995L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S995L			Q5QGS0	K2022_HUMAN	KIAA2022	995					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGGCCATTGAATCAAAGCT	0.443000													21	4					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113347	61113347	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61113347G>A	ENST00000394900.3	+	17	1733	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	502	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTGTGGGCAGCGGGGCAGGA	0.597000													35	73					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404964	10404964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10404964C>T	ENST00000226207.5	-	26	3389	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1099						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTTCATCTTCAATCTTGCTT	0.373000													18	24					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21494382	21494382	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:21494382G>A	ENST00000313654.9	+	57	7579	c.7338G>A	c.(7336-7338)cgG>cgA	p.R2446R	LAMA3_ENST00000269217.6_Silent_p.R837R|LAMA3_ENST00000399516.3_Silent_p.R2390R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R781R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2446	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCTCCCGGGACTACATCG	0.517000													24	33					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708113	167708113	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:167708113G>A	ENST00000230256.3	+	2	371	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G66S	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	66						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGAGAGGCTGGGCTGCAAGGG	0.637000													56	77					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805651	45805651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:45805651C>T	ENST00000262891.4	+	17	2273	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	MARK4_ENST00000300843.4_Silent_p.I674I	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	648					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTTGGGATCAAACGGAAAC	0.612000													112	139					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59500176	59500176	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:59500176A>G	ENST00000307144.4	+	1	1135	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	346					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	ATCCTGGGAGAGAACGGTATT	0.388000													43	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616249	179616249	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179616249C>T	ENST00000360870.5	-	46	11100	c.10878G>A	c.(10876-10878)agG>agA	p.R3626R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9475	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTCTCCCCTTTCAACTA	0.368000													45	78					0	0	1	0	0
STMN1	3925	broad.mit.edu	37	1	26230203	26230203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:26230203G>A	ENST00000399728.1	-	3	478	c.115C>T	c.(115-117)Cct>Tct	p.P39S	STMN1_ENST00000426559.2_Missense_Mutation_p.P39S|STMN1_ENST00000374291.1_Missense_Mutation_p.P39S|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Missense_Mutation_p.P39S|STMN1_ENST00000357865.2_Missense_Mutation_p.P39S	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	39					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGGAGGGGAAAGGGGG	0.468000													27	109					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141292	239141292	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:239141292G>A	ENST00000456601.1	+	0	906																											TGGGTGGTGGGATAAACTTTG	0.527000													10	11					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765576	41765576	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:41765576G>A	ENST00000301178.4	+	20	2642	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	AXL_ENST00000359092.3_Missense_Mutation_p.E809K|AXL_ENST00000593513.1_Missense_Mutation_p.E550K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	818						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E809K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGCCTGACGAAATCCTCTA	0.572000													9	55					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42863023	42863023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42863023G>A	ENST00000334370.4	+	29	5694	c.5059G>A	c.(5059-5061)Gaa>Aaa	p.E1687K	MEGF8_ENST00000251268.6_Missense_Mutation_p.E1754K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1754						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGGTTCCGGGAAGTCAGGAA	0.577000													4	22					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072057	240072057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:240072057G>A	ENST00000255380.4	+	5	2085	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	436					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTCAGCCGTGGACACAGCTAA	0.547000													15	14					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780299	100780299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100780299C>T	ENST00000223095.4	+	8	1262	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354C	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGTCTCAGCCCGCATGGCCCC	0.577000													20	62					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153042	5153042	+	Silent	SNP	G	G	A	rs144490949		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5153042G>A	ENST00000307388.1	-	1	830	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I277I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGACAAGAGGATATGAATAT	0.403000													23	67					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370121	86370121	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:86370121G>A	ENST00000400286.2	-	2	1121	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	175						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTGGAGGAAGACTCTCAATA	0.368000													41	77					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4068976	4068976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:4068976G>A	ENST00000274673.3	-	7	1884	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	494																	AGCAATAAGGGAAGGCGACAA	0.378000													39	43					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128047036	128047036	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:128047036G>A	ENST00000493187.2	-	6	970	c.507C>T	c.(505-507)tcC>tcT	p.S169S	ERCC3_ENST00000285398.2_Silent_p.S233S			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	233					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGTCACTCGGGAAGTGGAGG	0.463000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	35					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793485	49793485	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49793485G>A	ENST00000335875.4	-	12	2347	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	702						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTAGGGGTAGGGATGTGGAGG	0.468000													59	100					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43464662	43464662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:43464662C>T	ENST00000282041.5	-	30	5258	c.5224G>A	c.(5224-5226)Gag>Aag	p.E1742K	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1742					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTATGAACTCTGCAGGTGCA	0.433000													14	43					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587266	39587266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39587266G>A	ENST00000352251.3	-	11	2956	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	PROSER1_ENST00000350125.3_Missense_Mutation_p.P686L|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	708	Ser-rich.																GCCAGTTAAAGGAAAATTGTT	0.473000													53	78					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799168	14799168	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14799168C>T	ENST00000253697.3	+	13	2683	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F	C3orf20_ENST00000435614.1_Missense_Mutation_p.S622F|C3orf20_ENST00000412910.1_Missense_Mutation_p.S622F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	744						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGCCGTGGCTCCCCCTGCATC	0.632000													7	18					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985397	240985397	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:240985397G>A	ENST00000319423.4	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGTGAGCAGGAAGAGGAGGA	0.597000													44	40					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192011404	192011404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:192011404G>A	ENST00000392320.2	-	3	522	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	STAT4_ENST00000409995.1_Missense_Mutation_p.R70C|STAT4_ENST00000358470.4_Missense_Mutation_p.R70C	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	70					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGGAAACACGACCTAACTGT	0.338000													6	20					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874895	20874895	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:20874895C>T	ENST00000381552.1	+	8	1301	c.933C>T	c.(931-933)tcC>tcT	p.S311S	SLCO1C1_ENST00000545102.1_Silent_p.S193S|SLCO1C1_ENST00000540354.1_Silent_p.S262S|SLCO1C1_ENST00000545604.1_Silent_p.S311S|SLCO1C1_ENST00000266509.2_Silent_p.S311S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	311					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.S311S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTAATTCTTCCTCTGAGAAAT	0.373000													6	27					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56090866	56090866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:56090866G>A	ENST00000426658.2	-	5	1745	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	CTCFL_ENST00000502686.2_Nonsense_Mutation_p.R100*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.R362*|CTCFL_ENST00000429804.2_Nonsense_Mutation_p.R362*|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.R362*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.R157*|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.R362*|CTCFL_ENST00000423479.2_Nonsense_Mutation_p.R362*|CTCFL_ENST00000422109.2_Nonsense_Mutation_p.R362*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.R362*			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	362					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.R362*(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGTGGGATCGGACATGGCGC	0.443000													55	99					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925481	218925481	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:218925481G>A	ENST00000439871.1	-	0	899					NR_002712.1																						GCAGCGGCACGATGAAGCCAA	0.527000													30	30					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785953	130785953	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:130785953C>T	ENST00000325390.3	-	0	2914					NR_026758.1																						TGATGGCATTCCAGTACTGGG	0.488000													3	5					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427208	111427208	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:111427208G>A	ENST00000393934.3	+	2	1169	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PLCXD2_ENST00000477665.1_Missense_Mutation_p.R200Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	200	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R200Q(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTGACGCTGCGAACTCTGTGG	0.512000													25	57					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38565283	38565283	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:38565283G>A	ENST00000332509.3	-	2	334	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.P51S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.P51S	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	51					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGCGGTTGGGAGTGTTCTGG	0.577000													14	13					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754619	141754619	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:141754619C>T	ENST00000475668.2	+	27	3279	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	MGAM_ENST00000549489.2_Silent_p.S1075S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1075	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATGCCATCCAGCACCCCTG	0.443000													37	69					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		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)		AGACCATGACGATCTCATGCC	0.438000													49	91					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609902	32609902	+	Missense_Mutation	SNP	G	G	A	rs41544114		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32609902G>A	ENST00000343139.5	+	3	587	c.485G>A	c.(484-486)aGc>aAc	p.S162N	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.S162N|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.S162N	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	161	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAGACCAGCTTCCTCTCC	0.488000													11	24					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777860	44777860	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44777860G>A	ENST00000391958.2	+	5	1174	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	ZNF233_ENST00000334152.1_Silent_p.R331R|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCCCGGAGCTCCAACC	0.527000													8	33					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381371	101381371	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:101381371G>C	ENST00000392979.3	+	7	913	c.552G>C	c.(550-552)agG>agC	p.R184S	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R219S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	219						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCCAATGAGGCTGGACAAGG	0.493000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	102	119					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865211	106865211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106865211C>T	ENST00000369701.3	+	7	1377	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	384						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGAAGTGGGCCTTTTGCCCG	0.478000													22	81					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849114	73849114	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:73849114C>T	ENST00000523207.1	+	3	2112	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	508					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGTCTTTCGAGAATAAGT	0.547000													50	85					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132242500	132242500	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:132242500A>T	ENST00000260818.6	+	51	6251	c.6003A>T	c.(6001-6003)gaA>gaT	p.E2001D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2001							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCCTAGAGAATTTCTTATTG	0.413000													28	51					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366836	248366836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366836G>A	ENST00000456743.1	+	1	505	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACGGATGGAATTATTGAT	0.463000													62	93					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579362	49579362	+	Missense_Mutation	SNP	G	G	A	rs137853046		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49579362G>A	ENST00000301071.7	-	4	1131	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TUBA1A_ENST00000295766.5_Missense_Mutation_p.P263S|TUBA1A_ENST00000550767.1_Missense_Mutation_p.P228S	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	263			P -> T (in LIS3).		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGGATGCGGGGATAGGGCACC	0.498000													44	41					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326252	152326252	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152326252G>A	ENST00000388718.5	-	3	4082	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1337							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTTCTGGAACCTGTCTG	0.488000													43	128					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832673	44832673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44832673G>A	ENST00000354340.4	-	4	1688	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	ZNF112_ENST00000337401.4_Missense_Mutation_p.P552L|ZNF112_ENST00000536500.1_Missense_Mutation_p.P569L	NM_013380.3	NP_037512.3			zinc finger protein 112																		GCATTTATAAGGTTTCTCTCC	0.413000													15	83					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7004911	7004911	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7004911T>G	ENST00000380952.2	-	9	1183	c.919A>C	c.(919-921)Acc>Ccc	p.T307P	ASGR2_ENST00000446679.2_Missense_Mutation_p.T288P|ASGR2_ENST00000355035.5_Missense_Mutation_p.T307P|ASGR2_ENST00000254850.7_Missense_Mutation_p.T283P	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	307					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCTCGCCGGTGGCATTCCGC	0.572000													13	45					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70091477	70091477	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70091477C>T	ENST00000330891.5	-	2	328	c.102G>A	c.(100-102)agG>agA	p.R34R	BEST3_ENST00000331471.4_Silent_p.R34R|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	34						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAATAAATTCCCTGTACAGTA	0.358000													41	49					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238966	48238966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48238966G>A	ENST00000309562.2	+	1	623	c.605G>A	c.(604-606)gGa>gAa	p.G202E		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAACAGTGGATTATTCTCT	0.478000													32	55					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51086731	51086731	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:51086731G>A	ENST00000301180.5	+	14	1688		c.e14-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCTATTTTAGGGGAAACAAT	0.348000													19	35					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294019	25294019	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25294019G>A	ENST00000400358.4	+	19	2160	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	SGSM1_ENST00000400359.4_Silent_p.G756G	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	756	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCCCAATGGGAACCTAGTGA	0.557000													9	14					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954383	33954383	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33954383A>T	ENST00000389232.4	+	35	4722	c.4652A>T	c.(4651-4653)cAg>cTg	p.Q1551L	RYR3_ENST00000415757.3_Missense_Mutation_p.Q1551L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1551	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTGTGAGCAGGAGGACCTG	0.602000													3	14					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37342742	37342742	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:37342742G>A	ENST00000231498.3	-	10	1205	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	NUP155_ENST00000513532.1_Silent_p.I334I|NUP155_ENST00000381843.2_Silent_p.I275I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	334					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGAACGATCGATGGTCCTAA	0.318000													5	20					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878086	49878086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49878086G>A	ENST00000221498.2	+	5	935	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	DKKL1_ENST00000594268.1_Missense_Mutation_p.R35Q|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	177					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTGCCACGGCGGAGGTCCCAC	0.652000													6	20					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631135	122631135	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122631135C>A	ENST00000195173.4	-	19	3080	c.2777G>T	c.(2776-2778)gGt>gTt	p.G926V	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G927V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G981V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	927	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGACCCCCACCACAGGAAGC	0.652000													6	19					8.12818e-05	8.18019e-05	1	1	0
P2RY12	64805	broad.mit.edu	37	3	151056366	151056366	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151056366C>T	ENST00000302632.3	-	3	567	c.268G>A	c.(268-270)Gga>Aga	p.G90R	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	90					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CTCAGTGGTCCTGTTCCCAGT	0.343000													25	38					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415193	32415193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:32415193G>A	ENST00000265069.8	-	5	767	c.665C>T	c.(664-666)aCc>aTc	p.T222I		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	222	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAAAGTAGTGGTAGCTGGACT	0.517000													57	111					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798353	185798353	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:185798353G>A	ENST00000302277.6	+	3	873	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	93						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACAAAGGGAATTTGCTC	0.353000													21	19					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666794	167666794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:167666794G>A	ENST00000367854.3	+	6	1264	c.933G>A	c.(931-933)atG>atA	p.M311I	RCSD1_ENST00000537350.1_Missense_Mutation_p.M281I	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	311	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AAGCAGAGATGGAAAAGGCTA	0.567000													3	14					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21216882	21216882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21216882C>T	ENST00000574002.1	-	8	1034	c.552G>A	c.(550-552)tgG>tgA	p.W184*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.W184*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.W184*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	184					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTCAATGCTCCATCCCATCT	0.483000													29	58					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002745	132002745	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:132002745C>T	ENST00000286355.5	-	2	3096	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G335E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATGAAGATTCCAGCTGTGTT	0.507000										HNSCC(32;0.087)			58	117					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94543483	94543483	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:94543483T>A	ENST00000258526.4	+	1	985	c.736T>A	c.(736-738)Ttc>Atc	p.F246I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	246	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGCATCTACTTCCCCTACTA	0.687000													8	15					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3298437	3298437	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:3298437G>A	ENST00000436008.2	-	5	1560	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	SLC22A23_ENST00000380302.4_Silent_p.S85S|SLC22A23_ENST00000490273.1_Silent_p.S85S|SLC22A23_ENST00000406686.3_Silent_p.S366S|PSMG4_ENST00000451246.2_Intron			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	366					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GCCACCGGAGGGACTCGGGGA	0.547000													41	125					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29617457	29617457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:29617457C>T	ENST00000318184.5	-	18	2107	c.2108G>A	c.(2107-2109)tGg>tAg	p.W703*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	703	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GATGCTTCCCCATCCGGTCAC	0.453000													23	14					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6219548	6219548	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:6219548C>T	ENST00000262450.3	-	3	334	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	79	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGATCCTCTTCATTCTCTGAT	0.507000													5	2					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008524	88008524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:88008524G>A	ENST00000276127.4	+	3	368	c.109G>A	c.(109-111)Gat>Aat	p.D37N	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37N	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCATCTGCTGATCCCAATAT	0.438000													11	7					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34152965	34152965	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:34152965C>T	ENST00000257829.3	+	14	1613	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	NAT10_ENST00000531159.2_Silent_p.I397I|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	469						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGGAGTCAATCCGATACGCCC	0.493000													48	66					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550194	123550194	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123550194C>T	ENST00000373926.3	-	3	530	c.343G>A	c.(343-345)Gac>Aac	p.D115N	FBXW2_ENST00000340778.5_Missense_Mutation_p.D115N	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	115					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGCAAAGCGTCCTGAACAGAA	0.438000													33	51					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540103	169540103	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:169540103G>A	ENST00000340806.6	+	1	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	132										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CGACCTGAAGGAAATTCCCGT	0.557000													21	61					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:140994042C>T	ENST00000285879.4	+	4	1138	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)			74	47					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896979	227896979	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:227896979C>T	ENST00000396625.3	-	39	3798	c.3591G>A	c.(3589-3591)gtG>gtA	p.V1197V	COL4A4_ENST00000329662.7_Silent_p.V1197V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1197	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGTGGCCCCACATCATGCA	0.493000													17	18					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330347	3330347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:3330347C>T	ENST00000382004.3	-	5	697	c.386G>A	c.(385-387)aGc>aAc	p.S129N	RFX3_ENST00000302303.1_Missense_Mutation_p.S129N|RFX3_ENST00000358730.2_Missense_Mutation_p.S129N	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	129					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCCAGAGCTGCTGATGAGTTG	0.542000													21	24					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234112876C>T	ENST00000359570.5	+	28	3044	c.3044C>T	c.(3043-3045)tCc>tTc	p.1015_1015insF	INPP5D_ENST00000450745.1_Missense_Mutation_p.779_779insF|INPP5D_ENST00000455936.2_Missense_Mutation_p.779_779insF			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCCTGAGTTCCTTCCCTAAG	0.632000													5	17					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513253	106513253	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:106513253C>T	ENST00000359195.3	+	4	2467	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	PIK3CG_ENST00000440650.2_Silent_p.A719A|PIK3CG_ENST00000496166.1_Silent_p.A719A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	719					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCTGGAAGCCTATCTGAGGG	0.448000													18	78					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264174	108264174	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:108264174C>T	ENST00000520734.1	-	8	1091	c.806G>A	c.(805-807)gGa>gAa	p.G269E	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G268E			Q15389	ANGP1_HUMAN	angiopoietin 1	469			Missing (in cell line T98G; may be due to exon slippage).		activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTCAGTTTTCCATGGTTTTG	0.398000													50	98					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914801	94914801	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94914801C>T	ENST00000334708.3	-	2	375	c.311G>A	c.(310-312)gGa>gAa	p.G104E	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAGGTTGAATCCCAGGCCCTC	0.587000													40	36					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061365	111061365	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:111061365A>G	ENST00000369771.2	-	1	432	c.45T>C	c.(43-45)aaT>aaC	p.N15N		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	15						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AATTATCAAAATTGACCAGCG	0.527000													11	14					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645562	7645562	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:7645562C>T	ENST00000340209.4	+	5	792	c.495C>T	c.(493-495)ttC>ttT	p.F165F	RBFOX1_ENST00000422070.4_Silent_p.F203F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000552089.1_Silent_p.F177F|RBFOX1_ENST00000550418.1_Silent_p.F160F|RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Silent_p.F160F			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	160	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTTGGTTTCGTAACTTTCG	0.443000													18	78					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658840	20658840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:20658840G>A	ENST00000525748.1	+	12	2133	c.1860G>A	c.(1858-1860)atG>atA	p.M620I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	620					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTTCCAATGATCACTCAGG	0.527000													22	70					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186679	213186679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:213186679C>T	ENST00000366962.3	-	2	295	c.141G>A	c.(139-141)tgG>tgA	p.W47*	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	47										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGTCTGTTCCAGCAACACC	0.453000													43	59					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59405029	59405029	+	Silent	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:59405029A>T	ENST00000301645.3	-	5	1235	c.1098T>A	c.(1096-1098)gcT>gcA	p.A366A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	366					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATCCTCCTTAGCTGTCCGGA	0.393000									Neonatal Giant Cell Hepatitis				23	61					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156447	70156447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70156447G>A	ENST00000335568.5	+	5	1230	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	410					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAAGGCCAAGGGAGCAGCTGT	0.448000													25	98					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556432	29556432	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29556432G>A	ENST00000383640.2	+	1	750	c.711G>A	c.(709-711)ggG>ggA	p.G237G	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGCTTTTGGGACCTGCTCCT	0.532000													46	45					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406783	50406783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50406783C>T	ENST00000217086.4	-	2	2350	c.2239G>A	c.(2239-2241)Ggc>Agc	p.G747S	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	747					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCTGCTGCCCTGGCGCTGC	0.577000													18	22					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295941	20295941	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20295941G>A	ENST00000568211.1	+	1	334	c.334G>A	c.(334-336)Gga>Aga	p.G112R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G112R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGGGGAGGGATTACTCCT	0.512000													29	235					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110258	106110258	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106110258G>A	ENST00000390545.2	-	0	359																											GGGGGAAGAGGAAGACTGACG	0.622000													17	57					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693016	135693016	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:135693016C>A	ENST00000513104.1	-	2	342	c.60G>T	c.(58-60)aaG>aaT	p.K20N	TRPC7_ENST00000426057.2_Missense_Mutation_p.K20N|TRPC7_ENST00000355180.3_Missense_Mutation_p.K20N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	20					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGACGGCCCTTCTCCCTCA	0.592000													4	119					0.150653	0.150949	1	1	0
PANK3	79646	broad.mit.edu	37	5	167995998	167995998	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:167995998G>A	ENST00000239231.6	-	2	350	c.34C>T	c.(34-36)Cca>Tca	p.P12S		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	12					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCAAACCATGGGAAAGCTATG	0.323000													21	46					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387193	104387193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104387193G>A	ENST00000360814.4	-	10	1262	c.857C>T	c.(856-858)cCc>cTc	p.P286L	GLT8D2_ENST00000548660.1_Missense_Mutation_p.P286L|GLT8D2_ENST00000546436.1_Missense_Mutation_p.P286L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	286						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GTGCCACAGGGGGTTAATTGT	0.428000													23	13					0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006829	29006829	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29006829G>T	ENST00000395366.2	+	5	849	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	PPP1CB_ENST00000358506.2_Missense_Mutation_p.D193Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.D193Y|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	193					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGACCTACTGATGTCCCTGA	0.343000													5	37					1.23904e-05	1.2482e-05	1	1	0
LHFPL4	375323	broad.mit.edu	37	3	9547721	9547721	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:9547721G>A	ENST00000287585.6	-	3	858	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	191						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					AGGCGAGGAAGGAGAGGATGA	0.632000													45	65					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117520	3117520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3117520C>T	ENST00000534507.1	+	3	369	c.158C>T	c.(157-159)cCg>cTg	p.P53L	IL32_ENST00000396887.3_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.P53L|IL32_ENST00000528163.2_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.P53L|IL32_ENST00000529699.1_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.P53L|IL32_ENST00000444393.3_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000552936.1_Missense_Mutation_p.P31L|IL32_ENST00000552356.1_Intron|IL32_ENST00000530538.2_Intron			P24001	IL32_HUMAN	interleukin 32	53					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GACAAGGATCCGGCCCTTTGG	0.552000													41	59					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8976425	8976425	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8976425G>A	ENST00000299698.7	+	3	536	c.356G>A	c.(355-357)gGg>gAg	p.G119E	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGAGGCAGGGGAACGGCACC	0.507000													28	92					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197093454	197093454	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:197093454A>T	ENST00000367409.4	-	13	3432	c.3176T>A	c.(3175-3177)aTt>aAt	p.I1059N	ASPM_ENST00000294732.7_Missense_Mutation_p.I1059N|ASPM_ENST00000367408.1_Missense_Mutation_p.I309N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1059					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						GTTAAGGGAAATATCCACCTA	0.284000													12	12					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42732406	42732406	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:42732406C>T	ENST00000287777.4	+	5	1763	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_152393.2	NP_689606.2			kelch-like family member 40																		CCTGGTCAGCCTGGTGGGTAC	0.602000													23	25					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155510618	155510618	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155510618C>A	ENST00000302053.3	-	2	229	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	FGA_ENST00000403106.3_Missense_Mutation_p.D51Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	51					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGGGCCAGTCTGAATCTTTG	0.537000													49	55					4.01344e-20	4.08129e-20	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84520132	84520132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:84520132G>A	ENST00000360700.4	+	6	1673	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	ZNF711_ENST00000373165.3_Missense_Mutation_p.E263K|ZNF711_ENST00000542798.1_Missense_Mutation_p.E59K|ZNF711_ENST00000395402.1_Missense_Mutation_p.E241K|ZNF711_ENST00000276123.3_Missense_Mutation_p.E263K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	263					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGGTGGAACAGAAATTGTCAC	0.363000													13	3					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35064522	35064522	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:35064522G>A	ENST00000373913.3	+	4	1490	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	DLGAP4_ENST00000401952.2_Missense_Mutation_p.G337D|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G337D|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G337D			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	337					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTGCCCGGCGGCGGCGGCGAG	0.701000													9	16					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661968	77661968	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:77661968C>T	ENST00000296043.6	+	5	3595	c.2642C>T	c.(2641-2643)cCg>cTg	p.P881L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	881					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCCAGAGGCCGGACGCTCGG	0.697000													6	21					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544000	154544000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:154544000C>T	ENST00000368476.3	+	5	965	c.701C>T	c.(700-702)cCg>cTg	p.P234L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	234					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CGCCGCAAGCCGCTCTTCTAC	0.582000													24	78					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62790107	62790107	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:62790107C>T	ENST00000280377.5	+	20	2661	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L	USP15_ENST00000353364.3_Missense_Mutation_p.P839L|USP15_ENST00000393654.3_Missense_Mutation_p.P843L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	868					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAATTAATCCAAATGCAGGT	0.383000													6	37					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750982	115750982	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:115750982T>A	ENST00000264363.2	-	13	3141	c.2463A>T	c.(2461-2463)aaA>aaT	p.K821N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	821	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCCTTTGCTTTTTCCAAGGC	0.328000													20	18					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230001	21230001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21230001G>A	ENST00000233242.1	-	26	9866	c.9739C>T	c.(9739-9741)Caa>Taa	p.Q3247*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3247					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGGAATTTGAAAGGTCCTG	0.398000													200	243					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215581	5215581	+	Silent	SNP	G	G	A	rs142108661		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:5215581G>A	ENST00000372412.4	-	27	4358	c.4125C>T	c.(4123-4125)ccC>ccT	p.P1375P	PTPRS_ENST00000587303.1_Silent_p.P1374P|PTPRS_ENST00000353284.2_Silent_p.P927P|PTPRS_ENST00000357368.4_Silent_p.P1374P|PTPRS_ENST00000348075.2_Silent_p.P1336P|PTPRS_ENST00000262963.6_Silent_p.P1354P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Silent_p.P927P|PTPRS_ENST00000588012.1_Silent_p.P1336P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1374					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGTCTGCGATGGGAATTGGCG	0.677000													11	72					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75309467	75309467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:75309467G>A	ENST00000297784.5	+	7	613	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	TMC1_ENST00000396237.3_Missense_Mutation_p.E25K|TMC1_ENST00000340019.3_Missense_Mutation_p.E25K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	25	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGTGAAGAGGAAGAGGAGGT	0.413000													8	18					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725652	106725652	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106725652C>T	ENST00000390609.2	-	0	81																											GCCCAAACTCCATGGTGAGTT	0.458000													36	41					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389390	48389390	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:48389390G>A	ENST00000224600.4	-	1	1601	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	496	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGGCCCTGGAAGTAGGACA	0.652000													28	24					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160129280	160129280	+	Silent	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:160129280C>A	ENST00000368081.4	+	6	1213	c.742C>A	c.(742-744)Cga>Aga	p.R248R		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	248					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGAGACCCGAAACATCTG	0.488000													4	80					1	1	1	1	0
PAK4	10298	broad.mit.edu	37	19	39668371	39668371	+	Silent	SNP	C	C	T	rs146955542	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:39668371C>T	ENST00000599386.1	+	8	1264	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	PAK4_ENST00000599470.1_Silent_p.P361P|PAK4_ENST00000435673.2_Silent_p.P514P|PAK4_ENST00000321944.4_Silent_p.P424P|PAK4_ENST00000358301.3_Silent_p.P514P|PAK4_ENST00000360442.3_Silent_p.P514P|PAK4_ENST00000593690.1_Silent_p.P514P	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	514	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GAGAGCCCCCCTACTTCAACG	0.602000													15	17					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605671	58605671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:58605671G>A	ENST00000267485.7	-	2	600	c.406C>T	c.(406-408)Cct>Tct	p.P136S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	136						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCACTTTCAGGAGATATTCTC	0.483000													16	27					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101732	21101732	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:21101732G>A	ENST00000377122.4	-	24	2880	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	NEBL_ENST00000377159.4_Silent_p.I131I|NEBL_ENST00000417816.2_Silent_p.I165I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	828					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATCTCCACGATGTGAGGGT	0.542000													22	38					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857197	59857197	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59857197C>T	ENST00000278888.3	+	2	191	c.89C>T	c.(88-90)cCc>cTc	p.P30L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	30					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAATATCTCCCCAGGAAGTA	0.453000													28	52					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730414	140730414	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140730414C>T	ENST00000523390.1	+	1	587	c.587C>T	c.(586-588)cCt>cTt	p.P196L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAAAAACCTCTAGACAGG	0.483000													46	110					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665447	117665447	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117665447C>T	ENST00000317775.6	-	23	4091		c.e23-1		NOS1_ENST00000344089.3_Splice_Site|NOS1_ENST00000338101.4_Splice_Site	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGCAAACCCTGTGCCAAGG	0.547000													19	24					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15332575	15332575	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:15332575A>C	ENST00000537676.1	-	1	106	c.34T>G	c.(34-36)Tgt>Ggt	p.C12G	ASB11_ENST00000344384.4_Missense_Mutation_p.C12G|ASB11_ENST00000380470.3_Intron|ASB11_ENST00000480796.1_Intron			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	0					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GAAACTTCACAATTCTTCTCA	0.393000													31	15					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70477607	70477607	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:70477607G>A	ENST00000310961.5	+	13	1451	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.E340K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	340						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTACCCAGAGAAGTGAGAAA	0.333000													3	25					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282491	117282491	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117282491G>A	ENST00000003084.6	+	23	3849		c.e23-1		AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Splice_Site	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTACCTTATAGGTGGGCCTCT	0.378000									Cystic Fibrosis				16	44					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053547	114053547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:114053547G>A	ENST00000369422.3	+	5	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	179	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAGGCATCCGAAATCGGTTC	0.408000													21	40					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579948	148579948	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148579948G>C	ENST00000506113.1	+	4	887	c.405G>C	c.(403-405)caG>caC	p.Q135H	ABLIM3_ENST00000504238.1_Missense_Mutation_p.Q135H|ABLIM3_ENST00000326685.7_Missense_Mutation_p.Q135H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.Q135H|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.Q135H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.Q135H			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	135	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTCCCAGTCCATGGCCA	0.557000													17	33					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558145	4558145	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:4558145G>A	ENST00000586582.1	-	3	448	c.138C>T	c.(136-138)ccC>ccT	p.P46P	SEMA6B_ENST00000586965.1_Silent_p.P46P|SEMA6B_ENST00000301293.3_Silent_p.P46P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	46	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.P46P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAAACACGGGATAGTGGT	0.637000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	11					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231685	6231685	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6231685C>T	ENST00000316375.2	+	2	728	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	226	Pro-rich.									endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACTGGGTCAGACCCAACC	0.587000													77	89					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454813	29454813	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29454813G>A	ENST00000377127.3	-	1	925	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	289						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CAAACATTTTGAAATCTGTTA	0.493000													16	40					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:135649738G>A	ENST00000520727.1	-	4	677	c.378C>T	c.(376-378)atC>atT	p.I126I	ZFAT_ENST00000429442.2_Silent_p.I126I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000520214.1_Silent_p.I126I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000													48	77					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153181966	153181966	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:153181966C>T	ENST00000285900.5	+	15	2779	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	GRIA1_ENST00000518142.1_Silent_p.I732I|GRIA1_ENST00000340592.5_Silent_p.I812I|GRIA1_ENST00000448073.4_Silent_p.I822I|GRIA1_ENST00000521843.2_Silent_p.I743I|GRIA1_ENST00000518783.1_Silent_p.I822I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	812					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTTCTACATCCTGATCGGAG	0.522000													57	104					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145782	170145782	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:170145782G>A	ENST00000328939.4	+	2	619	c.82G>A	c.(82-84)Gag>Aag	p.E28K	KCNIP1_ENST00000377360.4_Missense_Mutation_p.E37K|KCNIP1_ENST00000434108.1_Missense_Mutation_p.E28K|KCNIP1_ENST00000411494.1_Missense_Mutation_p.E39K|KCNIP1_ENST00000390656.4_Missense_Mutation_p.E28K|KCNIP1_ENST00000520740.1_5'UTR	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	39					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAGCTGGAGATGACCAT	0.512000													5	28					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179632519	179632519	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:179632519G>A	ENST00000444136.1	+	16	2792	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	TDRD5_ENST00000367614.1_Missense_Mutation_p.D794N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D794N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	825					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TACATGGGATGATTCTTGGCA	0.408000													11	25					0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5233772	5233772	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:5233772G>A	ENST00000239316.4	+	2	420	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	105					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CATCATTGAAGAAAATAATAC	0.388000													15	20					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234515	21234515	+	Missense_Mutation	SNP	A	A	G	rs151035908		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21234515A>G	ENST00000233242.1	-	26	5352	c.5225T>C	c.(5224-5226)aTg>aCg	p.M1742T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1742					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAGCCCATCATGTCATTTGA	0.413000													199	625					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136516866	136516866	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136516866G>A	ENST00000393056.2	+	7	1314	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	434					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGAGATCGTGAACCAGGACA	0.637000													6	6					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838601	3838601	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3838601T>A	ENST00000278243.4	+	3	385	c.184T>A	c.(184-186)Ttc>Atc	p.F62I	PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F62I|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000496834.2_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	62					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTGCAGGATGTTCTCTGCGGC	0.602000													62	72					0	0	1	0	0
C9orf47	286223	broad.mit.edu	37	9	91605918	91605918	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:91605918G>A	ENST00000375851.2	+	1	141	c.8G>A	c.(7-9)aGg>aAg	p.R3K	C9orf47_ENST00000334490.5_Missense_Mutation_p.R3K|C9orf47_ENST00000375850.3_Missense_Mutation_p.R3K	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	3						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GAAATGGTCAGGATCTGGACA	0.562000													6	11					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402817	124402817	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124402817C>T	ENST00000338354.3	+	53	7251	c.7145C>T	c.(7144-7146)tCg>tTg	p.S2382L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1754L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1754L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2382L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2372L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2372L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S1102L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2382					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGTTGAGGTCGAAGAGGGAT	0.607000													33	50					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321457	321457	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:321457G>A	ENST00000397770.3	-	11	707	c.690C>T	c.(688-690)atC>atT	p.I230I	RGS11_ENST00000316163.5_Silent_p.I209I|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.I219I			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	230	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGAAGTACTCGATCTAGGATG	0.622000													18	32					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697069	48697069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:48697069C>T	ENST00000354983.4	+	32	6077	c.5705C>T	c.(5704-5706)tCc>tTc	p.S1902F	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1936F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1936F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1918F|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1902F|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1891F|CACNA1G_ENST00000514181.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1936					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACACCATATCCCTGCTGATC	0.662000													8	17					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47861898	47861898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:47861898G>A	ENST00000526870.1	-	3	691	c.557C>T	c.(556-558)tCc>tTc	p.S186F	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Intron|NUP160_ENST00000378460.2_Intron|NUP160_ENST00000530326.1_Intron			Q12769	NU160_HUMAN	nucleoporin 160kDa	0					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						AGTAATTTGGGAAATAAAAGA	0.403000													8	18					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543175	32543175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:32543175C>T	ENST00000360538.2	-	3	1464	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	TOPORS_ENST00000379858.1_Missense_Mutation_p.V385I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	450	Interaction with SUMO1.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTCCTGTGACAAGTTCTTCA	0.408000													23	39					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263580	39263580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39263580C>T	ENST00000280481.7	+	1	2315	c.2099C>T	c.(2098-2100)cCt>cTt	p.P700L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	700					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATCGCCTCCCTCCGGAGCTG	0.552000													29	43					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138965	22138965	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22138965G>T	ENST00000356766.6	+	4	510	c.362G>T	c.(361-363)tGg>tTg	p.W121L	PIWIL2_ENST00000521356.1_Missense_Mutation_p.W121L|PIWIL2_ENST00000454009.2_Missense_Mutation_p.W121L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	121					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCACTTTTTGGGATCCAAAA	0.507000													32	115					2.46105e-21	2.50391e-21	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171240224	171240224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:171240224C>T	ENST00000334231.6	+	12	1217	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.S397F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S397F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	397	Myosin head-like.		A -> T (in dbSNP:rs10168181).		response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S397_A406del(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTCAGTTTTCCAGACTTTAT	0.448000													4	47					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39792728	39792728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:39792728C>T	ENST00000502986.2	+	1	255	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	0					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTTGCATTTTCATTATTATGG	0.383000													49	103					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:70885994G>A	ENST00000333538.5	+	5	1499	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCGGTACGAGAACTCGGC	0.587000													52	59					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460392	142460392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142460392C>T	ENST00000486171.1	+	5	624	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	PRSS1_ENST00000311737.7_Missense_Mutation_p.L189F			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	189	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGTGGGCTTCCTTGAGGGAGG	0.537000													17	94					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196887394G>A	ENST00000367416.2	+	10	1729	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E|CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G285E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTTAAAAGGAAAAAGTGAC	0.279000													12	19					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068457	189068457	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:189068457C>T	ENST00000332517.3	+	6	1478	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTATCTTTTCCCCCTGCCTCC	0.562000													24	74					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159686486	159686486	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:159686486G>A	ENST00000393977.3	-	5	1002	c.717C>T	c.(715-717)gtC>gtT	p.V239V	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000541762.1_Silent_p.V190V|CCNJL_ENST00000257536.7_Silent_p.V191V|CCNJL_ENST00000519673.1_Silent_p.V191V	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	239						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGCAGGGTGACCTCTAGGA	0.632000													25	49					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74726430	74726430	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74726430C>T	ENST00000261980.2	+	4	795	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	235	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TGCCCGAGTCCATCCTCAAGT	0.652000													29	28					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188634	140188634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140188634C>T	ENST00000530339.1	+	1	1862	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P621L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P621L	NM_018907.2	NP_061730.1												p.P621L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCATCCCGTTCCGCGTG	0.672000													36	65					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54852043	54852043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:54852043C>T	ENST00000333896.5	+	10	1631	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R429C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	429					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGATTTGATCGCAAGGCAGC	0.488000													11	40					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519292	48519292	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:48519292G>A	ENST00000339841.2	+	4	529	c.351G>A	c.(349-351)acG>acA	p.T117T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	117	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTGTGAAACGAATGGTGAGC	0.552000													20	97					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237516	30237516	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:30237516C>T	ENST00000378988.4	+	2	920	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	273	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GCTTTCAATTCCTGTGGGGTC	0.517000													25	5					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67194967	67194967	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:67194967G>A	ENST00000371037.4	+	20	1840	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	SGIP1_ENST00000371035.3_Missense_Mutation_p.G378E|SGIP1_ENST00000371036.3_Missense_Mutation_p.G390E|SGIP1_ENST00000435165.2_Missense_Mutation_p.G93E|SGIP1_ENST00000371039.1_Missense_Mutation_p.G391E|SGIP1_ENST00000237247.6_Missense_Mutation_p.G619E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	588					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGATTACCGGAGAAATGGTG	0.423000													15	47					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423853	56423853	+	Missense_Mutation	SNP	C	C	T	rs150988752		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56423853C>T	ENST00000588751.1	-	5	1354	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D444N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	444	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACTGGAGATCGTAATACCTC	0.483000													30	45					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515323	56515323	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56515323G>A	ENST00000390649.3	+	2	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTTTGAAATCGAGAATGCCAA	0.423000													15	35					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767009	77767009	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:77767009G>A	ENST00000521891.2	+	10	8300	c.7852G>A	c.(7852-7854)Gaa>Aaa	p.E2618K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2592K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2573K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2573K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2573						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAACAGCTGGAAATACTCTA	0.433000										HNSCC(33;0.089)			19	20					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20295729G>A	ENST00000568211.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000													86	316					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599565	179599565	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179599565C>T	ENST00000589042.1	-	51	15310	c.15086G>A	c.(15085-15087)cGa>cAa	p.R5029Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R4712Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3785Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4712	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3785Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATACATTCGGACTGTGTT	0.418000													15	65					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163253327	163253327	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163253327C>T	ENST00000332142.5	-	11	2635	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	846					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGATACATATCCAAAACCTCT	0.388000													14	30					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509071	157509071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:157509071C>T	ENST00000361835.3	-	7	1364	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	FCRL5_ENST00000356953.4_Missense_Mutation_p.A403T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A318T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A403T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A403T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	403	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCTCTCTGGGCTTCACAGTGA	0.542000													10	20					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49274001	49274001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:49274001G>A	ENST00000438782.1	+	3	313	c.77G>A	c.(76-78)tGg>tAg	p.W26*	CCDC36_ENST00000493870.1_3'UTR|CCDC36_ENST00000366429.2_Nonsense_Mutation_p.W26*|CCDC36_ENST00000296449.5_Nonsense_Mutation_p.W26*|CCDC36_ENST00000451634.2_Nonsense_Mutation_p.W16*|CCDC36_ENST00000452691.2_Nonsense_Mutation_p.W26*			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	26										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TCATCCAACTGGAATAATAAT	0.358000													16	26					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45133364	45133364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45133364G>A	ENST00000347606.4	-	3	219	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ZNF334_ENST00000457685.2_5'UTR|ZNF334_ENST00000593880.1_Missense_Mutation_p.P18L	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTCAGGTCCTGGAATGAAACT	0.433000													23	48					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969185	106969185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:106969185G>A	ENST00000369066.3	+	2	3365	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATGATATGGAAAAGGCTAA	0.363000													20	20					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117864084	117864084	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:117864084G>A	ENST00000227752.3	+	4	616	c.496G>A	c.(496-498)Gag>Aag	p.E166K	IL10RA_ENST00000545409.1_Missense_Mutation_p.E17K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E146K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	166						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCACTTCCGAGAGTATGAGAT	0.562000													15	43					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761808	55761808	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55761808G>A	ENST00000278409.1	-	1	293	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATCTGTAGGAAGCAGCCAG	0.468000													29	51					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990057	63990057	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:63990057C>T	ENST00000370657.4	-	4	1432	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	467					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGATCTTCTTCCAGTGCCACA	0.428000													37	59					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949187	59949187	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59949187G>A	ENST00000528851.1	-	2	154	c.14C>T	c.(13-15)cCt>cTt	p.P5L	MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5L|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5L|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33L|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5L|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5L|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5L|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTGGGAACAGGTTGTGATGT	0.443000													45	65					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152638129	152638129	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:152638129G>A	ENST00000263985.6	-	4	579	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PET112_ENST00000512306.1_Missense_Mutation_p.P180L|PET112_ENST00000515812.1_Missense_Mutation_p.P180L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	180						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACCGTCTTGGGGATCACCTG	0.527000													36	115					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3692299	3692299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:3692299G>A	ENST00000382622.3	+	8	1294	c.904G>A	c.(904-906)Gac>Aac	p.D302N	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.D293N	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	302					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACAGCGCAACGACTACGTCCA	0.483000													35	28					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172901	5172901	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5172901C>T	ENST00000380367.1	-	2	1116	c.699G>A	c.(697-699)caG>caA	p.Q233Q	OR52A1_ENST00000328942.1_Silent_p.Q233Q			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	233					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCCTCCTTCTGGGGCAAAC	0.433000													22	60					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770869	13770869	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13770869G>A	ENST00000265104.4	-	56	9698	c.9594C>T	c.(9592-9594)acC>acT	p.T3198T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3198	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTGGCCAGGGTCCGCACCT	0.468000									Kartagener syndrome				20	38					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962420	73962420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73962420C>T	ENST00000373468.1	-	3	2623	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D658N			Q5QGS0	K2022_HUMAN	KIAA2022	658					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCCTCTGATCATTACATAAT	0.413000													10	2					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114010	57114010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:57114010G>A	ENST00000454682.1	-	3	1585	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S435F|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTTCCAACAGAAGAAACGGG	0.448000			T	BCL6	NHL								53	53					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57902870	57902870	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:57902870C>T	ENST00000416870.1	+	18	2356	c.804C>T	c.(802-804)atC>atT	p.I268I	SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000494088.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000428312.1_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	0					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AATCGGATATCCATGCTAGTT	0.398000													4	4					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120016	103120016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:103120016G>A	ENST00000295269.4	+	3	1287	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	277					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCTTGGAGGGGTATTGTTT	0.398000													12	51					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167341173	167341173	+	Missense_Mutation	SNP	C	C	T	rs141034916	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:167341173C>T	ENST00000367862.5	+	5	504	c.269C>T	c.(268-270)tCg>tTg	p.S90L	POU2F1_ENST00000367866.2_Missense_Mutation_p.S101L|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_Missense_Mutation_p.S78L|POU2F1_ENST00000429375.2_Missense_Mutation_p.S101L|POU2F1_ENST00000420254.3_Missense_Mutation_p.S78L|POU2F1_ENST00000541643.3_Missense_Mutation_p.S78L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	78					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AATGAAGAATCGGGGGATTCG	0.473000													99	117					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20638543	20638543	+	Silent	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:20638543C>A	ENST00000219151.4	-	11	1558	c.348G>T	c.(346-348)ctG>ctT	p.L116L	ACSM1_ENST00000307493.4_Silent_p.L465L|ACSM1_ENST00000520010.1_Silent_p.L465L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	465					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.L465L(1)|p.L116L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTCCTCCCCAGGAAACAAA	0.512000													5	276					0.014758	0.014816	1	1	0
BRDT	676	broad.mit.edu	37	1	92441921	92441921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:92441921C>T	ENST00000370389.2	+	5	1249	c.325C>T	c.(325-327)Cct>Tct	p.P109S	BRDT_ENST00000362005.3_Missense_Mutation_p.P182S|BRDT_ENST00000399546.2_Missense_Mutation_p.P182S|BRDT_ENST00000402388.1_Missense_Mutation_p.P182S|BRDT_ENST00000394530.3_Missense_Mutation_p.P136S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	182	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGTATTTCCTAAGACATC	0.393000													13	36					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070202	53070202	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53070202C>T	ENST00000252244.3	-	7	1390	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	444	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCAGGTCATTCAGCTTGTTCT	0.562000													7	31					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115335570	115335570	+	Missense_Mutation	SNP	G	G	A	rs140991083		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115335570G>A	ENST00000357872.4	+	7	1610	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	AQPEP_ENST00000395528.2_Missense_Mutation_p.E13K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		496					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.E496K(1)									TGAAATACAGGAACTCTTTGA	0.358000													16	46					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55932118C>T	ENST00000244728.5	-	23	2499	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000													16	31					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927701	55927701	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55927701G>A	ENST00000313447.1	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGATGACGAGGAAGACTCCAA	0.443000													29	52					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132898	153132898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:153132898G>A	ENST00000370060.1	-	17	2239	c.2050C>T	c.(2050-2052)Cac>Tac	p.H684Y	L1CAM_ENST00000361699.4_Missense_Mutation_p.H684Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.H679Y|L1CAM_ENST00000361981.3_Missense_Mutation_p.H679Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.H684Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.H686Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.H686Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	684	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					AAGGTGTAGTGGACATAGGGC	0.547000													96	35					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135010603	135010603	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:135010603G>A	ENST00000304613.3	+	11	1797	c.1776G>A	c.(1774-1776)cgG>cgA	p.R592R	KNDC1_ENST00000368572.2_Silent_p.R592R|KNDC1_ENST00000368571.2_Silent_p.R527R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	592	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGACAGCCGGAAAATCCTTG	0.662000													5	21					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204872	34204872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34204872C>T	ENST00000373381.4	-	15	2413	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	706	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGGAGGCTGTCCCCAAA	0.567000													41	46					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86333812	86333812	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:86333812G>A	ENST00000355238.6	-	7	891	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R229C	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	229	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTCCAGAACGAATTTCATGA	0.328000													20	18					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580054	82580054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82580054C>T	ENST00000423517.2	-	6	10187	c.9850G>A	c.(9850-9852)Gag>Aag	p.E3284K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3284K|PCLO_ENST00000437081.1_Missense_Mutation_p.E4K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3215					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTAACGTCTCCTGCCTCATC	0.493000													48	79					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271442	56271442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56271442C>T	ENST00000225371.5	+	5	693	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	195					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAATGGCTTCCTTCTCCCTCT	0.617000													17	31					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68125190	68125190	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:68125190G>A	ENST00000294304.7	+	3	667	c.561G>A	c.(559-561)aaG>aaA	p.K187K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	187	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACCCGGAAGATCATTGTGG	0.592000													11	26					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816112	31816112	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:31816112G>A	ENST00000446923.2	+	9	3638	c.3247G>A	c.(3247-3249)Gaa>Aaa	p.E1083K	ZEB1_ENST00000542815.3_Missense_Mutation_p.E1032K|ZEB1_ENST00000320985.10_Missense_Mutation_p.E1099K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1079K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1100K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1099	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGACAGGGCTGAAAGTCAAGC	0.443000													5	11					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329960	50329960	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50329960G>A	ENST00000336089.4	-	3	297	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	105							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)		GCGCGCAGGCGACGGCGGCTA	0.637000													13	17					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484424	100484424	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100484424C>T	ENST00000388793.4	+	14	1873	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P	SRRT_ENST00000457580.2_Silent_p.P552P|SRRT_ENST00000432932.1_Silent_p.P551P|SRRT_ENST00000347433.4_Silent_p.P552P	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	552					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGCCTGCCCTCGCAAAACC	0.567000													11	19					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68184022	68184022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68184022G>A	ENST00000262215.3	-	10	1876	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	496					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCTGGAACAGATGAGACTCC	0.343000													21	41					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833032	34833032	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:34833032C>T	ENST00000299505.6	+	10	3066	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	731										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACCTCAAGTCCAATACTACC	0.642000													35	107					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101090	3101090	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3101090C>T	ENST00000381951.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAGTTCATCTCCTTTGGGGGA	0.498000													46	64					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680647	72680647	+	Silent	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:72680647A>G	ENST00000261180.4	+	2	1062	c.966A>G	c.(964-966)tcA>tcG	p.S322S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	322					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCACTTTTCACAGACCCCTC	0.403000													48	40					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670715	101670715	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101670715G>A	ENST00000409318.1	-	4	616	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TBC1D8_ENST00000376840.4_Silent_p.F147F	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	147	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACCTGGCCTCGAACTTCACCA	0.612000													4	6					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810645	117810645	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117810645C>T	ENST00000350763.4	-	16	5157	c.4746G>A	c.(4744-4746)agG>agA	p.R1582R	TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Silent_p.R1218R|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1582	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCTCCAGCTTCCTCTGGGTTC	0.527000													36	44					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340221	116340221	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:116340221C>T	ENST00000397752.3	+	2	1283	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	MET_ENST00000318493.6_Silent_p.A361A|MET_ENST00000436117.2_Silent_p.A361A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	361	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCGATCTGCCATGTGTGCAT	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	34					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475313	140475313	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140475313C>T	ENST00000194155.4	+	1	1087	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		313	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTCGAATCCATCCAGACAT	0.418000													23	65					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547787	43547787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:43547787C>T	ENST00000400427.1	+	19	4100	c.3704C>T	c.(3703-3705)cCt>cTt	p.P1235L	UMODL1_ENST00000408989.2_Missense_Mutation_p.P1307L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P1107L|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.P1179L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1179	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTCAGCTGCCCTGTGCCCAAC	0.502000													11	18					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15192694	15192694	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:15192694C>T	ENST00000355694.2	-	9	861		c.e9-1		TTC39B_ENST00000541445.1_Splice_Site|TTC39B_ENST00000512701.1_Splice_Site|TTC39B_ENST00000380850.4_Splice_Site|TTC39B_ENST00000297615.5_Splice_Site|TTC39B_ENST00000507285.1_Splice_Site|TTC39B_ENST00000507993.1_Splice_Site	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B								binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAGACATTCTCTGGGTTGAAG	0.348000													16	22					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397451	40397451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:40397451G>A	ENST00000542756.1	-	6	2016	c.1993C>T	c.(1993-1995)Ccg>Tcg	p.P665S	SLC8A1_ENST00000332839.4_Missense_Mutation_p.P670S|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P662S|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P665S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P670S|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	670					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAGAGAATCGGATGTTCTCTA	0.418000													12	29					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790312	4790312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4790312G>A	ENST00000380383.1	-	1	856	c.857C>T	c.(856-858)gCt>gTt	p.A286V	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.A279V|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	279						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTATACATTAGCCATCACTGA	0.483000													7	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792274	13792274	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13792274C>T	ENST00000265104.4	-	50	8381	c.8277G>A	c.(8275-8277)gtG>gtA	p.V2759V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2759	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATCTCTCACTTCTTCTG	0.423000									Kartagener syndrome				20	39					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653784	137653784	+	Missense_Mutation	SNP	C	C	T	rs150890005		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137653784C>T	ENST00000371817.3	+	19	2363	c.1949C>T	c.(1948-1950)cCt>cTt	p.P650L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	650	Triple-helical region.			P -> L (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCTGGTCCTTCCGGCCCA	0.572000													18	69					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151536461	151536461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151536461C>T	ENST00000368849.3	+	4	381	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	TUFT1_ENST00000392712.3_Nonsense_Mutation_p.Q82*|TUFT1_ENST00000368848.2_Nonsense_Mutation_p.Q82*|TUFT1_ENST00000538902.1_Nonsense_Mutation_p.Q126*|TUFT1_ENST00000353024.3_Nonsense_Mutation_p.Q48*	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	107					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTACATCCAGGAGGTGGG	0.448000													16	33					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616438	22616438	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22616438G>A	ENST00000390457.2	+	0	276																											CCTGGGGAAGGTCCTGTCCTC	0.473000													6	21					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852935	117852935	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117852935C>T	ENST00000350763.4	-	2	774	c.363G>A	c.(361-363)gaG>gaA	p.E121E	TNC_ENST00000423613.2_Silent_p.E121E|TNC_ENST00000535648.1_Silent_p.E121E|TNC_ENST00000345230.3_Silent_p.E121E|TNC_ENST00000340094.3_Silent_p.E121E|TNC_ENST00000542877.1_Silent_p.E121E|TNC_ENST00000537320.1_Silent_p.E121E|TNC_ENST00000346706.3_Silent_p.E121E|TNC_ENST00000341037.4_Silent_p.E121E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	121					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCTCAGCAGCTCCTTAACAT	0.587000													60	229					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69902756	69902756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:69902756G>A	ENST00000358913.5	+	3	1450	c.962G>A	c.(961-963)gGa>gAa	p.G321E	MYPN_ENST00000373675.3_Missense_Mutation_p.G321E|MYPN_ENST00000540630.1_Missense_Mutation_p.G321E|MYPN_ENST00000354393.2_Missense_Mutation_p.G46E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	321	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTCCAGGCAGGAAATCTGCAC	0.473000													16	48					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54269674	54269674	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:54269674G>A	ENST00000371429.3	-	10	1591	c.993C>T	c.(991-993)gcC>gcT	p.A331A	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.A331A|NDC1_ENST00000234725.8_Silent_p.A216A	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		GGTCCTGCAAGGCTAAATACT	0.343000													46	69					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011622	21011622	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21011622G>A	ENST00000261383.3	-	43	6344	c.6345C>T	c.(6343-6345)atC>atT	p.I2115I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2115	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGACATGATGATATCCTGGG	0.517000													23	43					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131298347	131298347	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:131298347G>A	ENST00000379264.2	-	18	1846	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ACSL6_ENST00000543479.1_Missense_Mutation_p.R555W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R464W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R566W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R555W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R555W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R480W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R535W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R580W|ACSL6_ENST00000379240.1_Missense_Mutation_p.R555W|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379255.1_Missense_Mutation_p.R480W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R570W	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	555					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTTTTCCGATCAATAATT	0.428000													23	28					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121391473	121391473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:121391473C>T	ENST00000260197.7	+	9	1448	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	440					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACATGAGATCGGTCATCACC	0.443000													23	14					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739291	62739291	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62739291G>A	ENST00000371153.4	-	3	1863	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	495										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTCAGTGGAGAGGAAGCTAT	0.577000													41	44					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122754787	122754787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:122754787G>A	ENST00000245838.8	-	32	4277	c.4246C>T	c.(4246-4248)Cct>Tct	p.P1416S	THOC2_ENST00000491737.1_Missense_Mutation_p.P1301S|THOC2_ENST00000355725.4_Missense_Mutation_p.P1416S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1416	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GATGGAGAAGGGTGAGTATCA	0.403000													101	33					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41547832	41547832	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:41547832G>A	ENST00000396942.1	-	33	4100	c.4017C>T	c.(4015-4017)tcC>tcT	p.S1339S	ANK1_ENST00000289734.7_Silent_p.S1339S|ANK1_ENST00000379758.2_Silent_p.S1339S|ANK1_ENST00000265709.8_Silent_p.S1380S|ANK1_ENST00000347528.4_Silent_p.S1339S|ANK1_ENST00000396945.1_Silent_p.S1339S|ANK1_ENST00000352337.4_Silent_p.S1339S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1339					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAACGACAGGGACCCTCCCG	0.587000													28	51					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50315832C>T	ENST00000332853.3	-	2	287	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_ENST00000298454.3_Silent_p.G88G	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000													14	61					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861793	99861793	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:99861793C>T	ENST00000409679.1	-	4	457	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	LYG2_ENST00000409238.1_Missense_Mutation_p.E105K|LYG2_ENST00000333017.2_Missense_Mutation_p.E105K			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	105					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCATGGCTTTCCCTGGAGATG	0.512000													10	66					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49009302	49009302	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:49009302C>T	ENST00000226432.4	+	8	1328	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	CWH43_ENST00000513409.1_Missense_Mutation_p.S355F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	382					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAAAACAGTTCTAAAGTGCTT	0.274000													10	28					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398171	77398171	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:77398171C>T	ENST00000282849.5	-	5	1304	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	296	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGAGGGTTTCCACATTGAGG	0.488000													42	30					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552138	178552138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:178552138G>A	ENST00000251582.7	-	19	2895	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	932	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGCCTGTCCGCCCACAGGTC	0.667000													66	84					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193193	24193193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:24193193G>A	ENST00000437154.2	+	14	1645	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.E303K|ADAM28_ENST00000397649.3_Intron|ADAM28_ENST00000265769.4_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_021777.3	NP_068547.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	0	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGTGCGAAGGAAAATCATTT	0.473000													3	8					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720250	179720250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179720250C>T	ENST00000420890.2	-	19	3001	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E387K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	387							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTAACTTTTTCCATTTTCCTT	0.284000													7	34					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4870164	4870164	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:4870164C>T	ENST00000252318.2	+	7	1551	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	405	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGCCCTGTTCCCGGATTGCC	0.527000													28	37					0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1908751	1908751	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:1908751G>A	ENST00000406638.2	+	10	2094	c.792G>A	c.(790-792)ggG>ggA	p.G264G	LSP1_ENST00000381775.1_Silent_p.G454G|LSP1_ENST00000405957.2_Silent_p.G264G|LSP1_ENST00000311604.3_Silent_p.G326G|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	326					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CCGGGCATGGGAAGTATGAGA	0.567000													50	60					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:97136260C>T	ENST00000524981.3	+	19	2468	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F				Q6ZTY8	CL063_HUMAN		797										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCCTATTTCCCTAAATGCC	0.368000													8	22					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94903657	94903657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:94903657C>T	ENST00000380009.4	+	3	525	c.320C>T	c.(319-321)cCa>cTa	p.P107L		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	107						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGTCTAGATCCAAATTATACA	0.383000													18	32					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965321	9965321	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9965321C>T	ENST00000264833.4	-	6	1091	c.906G>A	c.(904-906)agG>agA	p.R302R	OLFM2_ENST00000590841.1_Silent_p.R224R	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	302	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCGGGAGGCTCCTCTGCACCA	0.607000													35	27					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43920619C>T	ENST00000602198.1	+	6	799	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_ENST00000598265.1_Silent_p.I101I|TEX101_ENST00000253435.7_Silent_p.I119I|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000													80	95					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46277839	46277839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:46277839C>T	ENST00000372004.3	+	19	3853	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	NCOA3_ENST00000371997.3_Nonsense_Mutation_p.Q1208*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.Q1143*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.Q1213*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATGCAGCCCCAGgtgagctc	0.517000													11	28					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73030423	73030423	+	Silent	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:73030423G>T	ENST00000313375.3	-	2	425	c.378C>A	c.(376-378)atC>atA	p.I126I	MLXIPL_ENST00000414749.2_Silent_p.I126I|MLXIPL_ENST00000354613.1_Silent_p.I126I|MLXIPL_ENST00000429400.2_Silent_p.I126I|MLXIPL_ENST00000395189.1_Silent_p.I126I|MLXIPL_ENST00000434326.1_Silent_p.I126I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	126					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCCCTCCAGATGGCGTTGT	0.582000													25	47					2.48779e-11	2.51609e-11	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234077950	234077950	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234077950G>A	ENST00000359570.5	+	16	1519		c.e16-1		INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTTCTTTTTAGGGAACAAGGG	0.488000													4	8					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066497	46066497	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:46066497G>A	ENST00000295452.4	-	5	753	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	196					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCATCCATGGGAAAGTTATGA	0.269000													15	71					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060973	71060973	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71060973G>A	ENST00000410009.3	-	3	414	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	123					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTAACTTCAGGAACTGAGAAC	0.463000													14	41					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699839	136699839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:136699839C>T	ENST00000445907.2	+	3	755	c.227C>T	c.(226-228)tCc>tTc	p.S76F	AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S76F|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S76F|CHRM2_ENST00000402486.3_Missense_Mutation_p.S76F|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S76F|CHRM2_ENST00000397608.3_Missense_Mutation_p.S76F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGTGTTTTCTCCATGAACTTG	0.478000													69	81					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597447	20597447	+	Missense_Mutation	SNP	G	G	A	rs80248215	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:20597447G>A	ENST00000504154.1	+	31	3562	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E1096K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1100K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1117K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1104	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CATATGCCCCGAAGGTTACAG	0.428000													16	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994476	8994476	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8994476C>T	ENST00000397910.4	-	64	41619	c.41416G>A	c.(41416-41418)Gag>Aag	p.E13806K	MUC16_ENST00000380951.5_Missense_Mutation_p.E447K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13808	SEA 12.			Missing (in Ref. 3; AAK74120).	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						CACATGTTCTCCTCATACCGC	0.532000													67	83					0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612716	102612716	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:102612716T>C	ENST00000372661.3	+	3	415	c.104T>C	c.(103-105)cTa>cCa	p.L35P	WBP5_ENST00000372656.3_Missense_Mutation_p.L35P	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	35	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						GAGGAGAAGCTAGAGGAGGAG	0.413000													5	25					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:86004545G>A	ENST00000304195.3	-	2	432	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCCACATAGCGAATGCCAAAG	0.498000													27	33					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011117	40011117	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:40011117C>T	ENST00000315792.3	+	1	129	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	22					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GCCCATCCATCCATGGCTACC	0.517000													24	36					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9497554	9497554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:9497554G>A	ENST00000352665.5	+	4	521	c.452G>A	c.(451-453)aGc>aAc	p.S151N	WDR16_ENST00000299764.5_Missense_Mutation_p.S161N|WDR16_ENST00000396219.3_Missense_Mutation_p.S83N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	151						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCTGTGGCAGCCCTGCAGCC	0.478000													14	86					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23424817	23424817	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23424817G>A	ENST00000307149.5	-	10	1546	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	454					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGGAGTTGGGAGGAATGTG	0.478000													35	46					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:30705003C>T	ENST00000256246.2	-	1	1605	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	511										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)		CTGAAATTTTCGTTTGTATGA	0.303000													34	63					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282248	282248	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:282248G>A	ENST00000269812.3	-	5	652	c.603C>T	c.(601-603)ttC>ttT	p.F201F	PPAP2C_ENST00000434325.2_Silent_p.F145F|PPAP2C_ENST00000327790.3_Silent_p.F222F	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	201					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCACCAGGAAGAACTGGACTG	0.607000													9	35					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783575	21783575	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:21783575C>T	ENST00000382254.1	-	11	2371	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	CDH12_ENST00000504376.2_Missense_Mutation_p.D429N|CDH12_ENST00000522262.1_Missense_Mutation_p.D389N|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGTAGCTGTCCCCATCACTC	0.378000										HNSCC(59;0.17)			58	114					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5857877	5857877	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:5857877C>T	ENST00000324989.7	-	4	901	c.813G>A	c.(811-813)caG>caA	p.Q271Q	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.Q157Q|CRMP1_ENST00000512574.1_Silent_p.Q155Q	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	157					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACCTTTGTCCTGCACCAGCA	0.517000													10	54					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115338984	115338984	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115338984G>A	ENST00000357872.4	+	12	2068	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	AQPEP_ENST00000395528.2_Silent_p.V165V	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		648					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGACTGGGTGATTTTGAATT	0.294000													24	37					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176405	223176405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:223176405C>T	ENST00000284476.6	+	8	1830	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	556	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGAATTTTTTCCTTTTATGAA	0.353000													124	443					0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433399	52433399	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52433399C>T	ENST00000335281.4	+	3	616	c.210C>T	c.(208-210)atC>atT	p.I70I	GNG2_ENST00000557376.1_Silent_p.I109I|GNG2_ENST00000556752.1_Silent_p.I70I|GNG2_ENST00000556766.1_Silent_p.I70I|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000555472.1_Silent_p.I70I|GNG2_ENST00000553432.1_Silent_p.I101I|GNG2_ENST00000554736.1_Silent_p.I70I	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	70					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCTGTGCCATCCTTTAAGTCT	0.512000													36	48					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057106	95057106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:95057106C>T	ENST00000329597.7	+	5	1121	c.911C>T	c.(910-912)cCc>cTc	p.P304L	SERPINA5_ENST00000554866.1_Missense_Mutation_p.P304L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.P304L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.P304L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	304					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTACCTTCCCAAATTCTCC	0.527000													27	30					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21727167	21727167	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21727167G>A	ENST00000261195.2	-	4	843	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	197					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGCAATAGGAAGTTTCCTG	0.418000													18	27					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267739	31267739	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:31267739G>A	ENST00000265071.2	+	2	424	c.159G>A	c.(157-159)agG>agA	p.R53R	CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	53					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTCAAAAAGGAGCTGGATGT	0.458000													40	73					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120857838	120857838	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:120857838G>A	ENST00000263713.5	+	15	1411	c.1197G>A	c.(1195-1197)tcG>tcA	p.S399S	EPB41L5_ENST00000331393.4_Silent_p.S399S|EPB41L5_ENST00000443902.2_Silent_p.S399S|EPB41L5_ENST00000452780.1_Silent_p.S399S|EPB41L5_ENST00000443124.1_Silent_p.S399S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	399						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATAATGTTTCGACCCAAAGTA	0.318000													13	18					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646284	38646284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38646284C>T	ENST00000413689.1	-	11	1647	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	SCN5A_ENST00000451551.2_Missense_Mutation_p.G485E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G485E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G485E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G485E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G485E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G485E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G485E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G485E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G485E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	485					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCAGTTCCTGAAGACAT	0.542000													10	32					0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065768	3065768	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3065768G>A	ENST00000396925.1	-	3	683	c.255C>T	c.(253-255)gtC>gtT	p.V85V	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.V85V			P56747	CLD6_HUMAN	claudin 6	85					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGAGGGCGATGACACAGAGGG	0.632000													16	34					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060904	9060904	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9060904C>T	ENST00000397910.4	-	3	26745	c.26542G>A	c.(26542-26544)Gaa>Aaa	p.E8848K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8850	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						CTAGTTTTTTCCACTGATGGG	0.512000													88	49					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222401	142222401	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:142222401G>A	ENST00000519067.1	-	7	2346	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	SLC45A4_ENST00000433583.2_Silent_p.S674S|SLC45A4_ENST00000517878.1_Silent_p.S732S|SLC45A4_ENST00000024061.3_Silent_p.S681S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	732					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGCCAACGGGGAAGACAGGC	0.632000													17	34					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461408	11461408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:11461408C>T	ENST00000279575.1	-	3	542	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G170E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	233	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	GGN -> QGG (in Ref. 5; AA sequence).|Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTTGTTTCCTTCCTGTGG	0.587000										HNSCC(22;0.051)			119	139					0	0	1	0	0
CYB5A	1528	broad.mit.edu	37	18	71920842	71920842	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:71920842G>A	ENST00000340533.4	-	5	522	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	CYB5A_ENST00000299438.9_Missense_Mutation_p.R54C|CYB5A_ENST00000397914.4_Missense_Mutation_p.R118C|CYB5A_ENST00000579405.1_5'UTR	NM_001914.3|NM_148923.3	NP_001905.1|NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	128					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	ATGTATAGGCGATACATCAAG	0.507000													19	29					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226776	87226776	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:87226776G>A	ENST00000297524.3	-	4	1382	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	427						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAACTAACAGAAGCACGTAG	0.348000													17	30					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113082325	113082325	+	Splice_Site	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:113082325T>C	ENST00000393845.2	-	20	2836	c.2771_splice	c.e20+1	p.S924_splice	WDR52_ENST00000295868.2_Splice_Site_p.S924_splice	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	924										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCCCATACCTGTAGGCTTTG	0.358000													9	22					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99535332	99535332	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:99535332G>A	ENST00000376460.1	-	23	2603	c.2523C>T	c.(2521-2523)gcC>gcT	p.A841A	DOCK9_ENST00000339416.2_Silent_p.A842A|DOCK9_ENST00000442173.1_Silent_p.A841A|DOCK9_ENST00000448493.2_Silent_p.A853A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	842	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAAGGCTTGGGCTCCAGATT	0.378000													16	27					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30690836	30690836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:30690836G>A	ENST00000256246.2	-	4	8410	c.8336C>T	c.(8335-8337)cCa>cTa	p.P2779L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2779										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)		TTGGTGCCATGGAGCTGGAAG	0.294000													7	15					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302779	163302779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163302779C>T	ENST00000332142.5	-	7	1402	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D428N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	435					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCTCTGTCATTGAGGAGG	0.413000													10	45					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221875829	221875829	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:221875829G>A	ENST00000366899.3	-	4	1612	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	DUSP10_ENST00000323825.3_Silent_p.F116F|DUSP10_ENST00000544095.1_Silent_p.F116F|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	458					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGTCTTCCTCGAACTCTAGCA	0.473000													34	111					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630451	7630451	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7630451C>T	ENST00000572933.1	+	4	1700	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNAH2_ENST00000082259.3_Silent_p.F80F|DNAH2_ENST00000389173.2_Silent_p.F80F|DNAH2_ENST00000570791.1_Silent_p.F80F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	80	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCCTCTTCCTTTCCCGAG	0.542000													31	36					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49142237	49142237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49142237G>A	ENST00000084798.4	-	8	1548	c.869C>T	c.(868-870)cCc>cTc	p.P290L	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	290						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GGGCTGCAGGGGCCGGCTGTT	0.647000													11	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487643	76487643	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:76487643G>A	ENST00000389840.5	-	43	6633	c.6509C>T	c.(6508-6510)tCc>tTc	p.S2170F	DNAH17_ENST00000585328.1_Missense_Mutation_p.S2179F|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATGATGGTGGAGAACAGGCC	0.617000													15	23					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000													4	17					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152640637	152640637	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:152640637G>A	ENST00000263985.6	-	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PET112_ENST00000512306.1_Silent_p.N127N|PET112_ENST00000515812.1_Silent_p.N127N	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	127						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTATGTGGCAGTTCAGAGCCA	0.502000													26	67					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570385	248570385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248570385G>A	ENST00000366474.1	+	1	1090	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	364					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTCAAAGGGTGTCAGGAGG	0.512000													29	119					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851398	34851398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:34851398C>T	ENST00000360581.1	+	4	529	c.401C>T	c.(400-402)gCc>gTc	p.A134V	NPSR1_ENST00000381539.3_Missense_Mutation_p.A134V|NPSR1_ENST00000531252.1_Missense_Mutation_p.A123V|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.A134V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	134						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGCTCTACGCCTCTACCTAC	0.483000													36	48					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817323	69817323	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69817323C>T	ENST00000251566.4	-	1	186	c.156G>A	c.(154-156)gaG>gaA	p.E52E		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	52						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTGTTACCTCATGGCCTC	0.468000													30	46					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22834596	22834596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:22834596C>T	ENST00000404138.1	+	8	1974	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S376L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S488L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	488					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGATGATCTCACACATGACA	0.413000													12	29					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934317	39934317	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:39934317C>T	ENST00000564288.1	+	96	22579	c.21802C>T	c.(21802-21804)Cgt>Tgt	p.R7268C	MACF1_ENST00000317713.7_Missense_Mutation_p.R5203C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5203C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5203C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5711C|MACF1_ENST00000372915.3_Missense_Mutation_p.R7161C|MACF1_ENST00000539005.1_Missense_Mutation_p.R5073C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7305C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7161	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGGCTGGTCCGTATTCTGCG	0.438000													10	38					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039230	89039230	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:89039230T>C	ENST00000251038.5	+	6	965	c.740T>C	c.(739-741)cTt>cCt	p.L247P	ZC3H14_ENST00000555755.1_Missense_Mutation_p.L247P|ZC3H14_ENST00000557607.1_Missense_Mutation_p.L92P|ZC3H14_ENST00000556945.1_Missense_Mutation_p.L247P|ZC3H14_ENST00000359301.3_Missense_Mutation_p.L213P|ZC3H14_ENST00000393514.5_Missense_Mutation_p.L247P|ZC3H14_ENST00000336693.4_Missense_Mutation_p.L213P|ZC3H14_ENST00000302216.8_Missense_Mutation_p.L247P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	247						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCCAAGCAGCTTGATATGCAG	0.403000													14	78					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029893	201029893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:201029893G>A	ENST00000362061.3	-	26	3533	c.3307C>T	c.(3307-3309)Ccc>Tcc	p.P1103S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1103S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGTTTTTGGGAATGTAGCAC	0.537000													42	165					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193719	77193719	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:77193719G>A	ENST00000253506.5	+	3	1736	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	NFATC1_ENST00000427363.2_Missense_Mutation_p.G456E|NFATC1_ENST00000329101.4_Missense_Mutation_p.G443E|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.G456E|NFATC1_ENST00000592223.1_Missense_Mutation_p.G443E|NFATC1_ENST00000591814.1_Missense_Mutation_p.G456E|NFATC1_ENST00000586434.1_Missense_Mutation_p.G443E|NFATC1_ENST00000318065.5_Missense_Mutation_p.G443E|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.G456E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	456	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCGTCGGCCGGAGGACACCCC	0.617000													33	41					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064221	9064221	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9064221G>A	ENST00000397910.4	-	3	23428	c.23225C>T	c.(23224-23226)tCa>tTa	p.S7742L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7744	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						ACTTGAAGATGAACTGGTTCC	0.527000													29	151					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035913	36035913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:36035913C>T	ENST00000282507.3	-	7	1560	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	UGT3A2_ENST00000513300.1_Missense_Mutation_p.D453N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.D185N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	487						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAAAACGTCGAGCAGGTAC	0.612000													23	28					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78039341	78039341	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:78039341G>A	ENST00000397545.4	+	10	1525	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	CCDC40_ENST00000374877.3_Missense_Mutation_p.A500T|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A500T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	500					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGCAATGGGCCAGCAGCCT	0.657000													41	54					0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43881663	43881663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:43881663G>A	ENST00000338380.2	-	3	394	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	125	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGAAACGCAGGATTTCCCACA	0.552000													50	72					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225022	79225022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:79225022G>A	ENST00000288439.5	-	14	2681	c.2336C>T	c.(2335-2337)cCc>cTc	p.P779L	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTTTAAAGGGGAGCAAGGGA	0.438000													58	94					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968492	118968492	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:118968492G>A	ENST00000515256.1	+	2	292	c.120G>A	c.(118-120)gtG>gtA	p.V40V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	40						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCACTAGAGTGGCCAAAGGCT	0.507000													48	44					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944827	43944827	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:43944827G>A	ENST00000343694.3	+	10	1093	c.1020_splice	c.e10-1	p.A341_splice	RBPJL_ENST00000372743.1_Splice_Site_p.A341_splice|RBPJL_ENST00000372741.3_Splice_Site_p.A341_splice|RBPJL_ENST00000464504.1_Intron	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	341					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCCTCCCAGGCCTCTCCCTG	0.617000													16	68					0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748622	43748622	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43748622C>T	ENST00000523677.1	-	3	409	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	C1orf210_ENST00000423420.1_Missense_Mutation_p.R59Q	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	59						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCATGGTATCGGCGGCAGAG	0.622000													12	53					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939845	22939845	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22939845G>A	ENST00000397104.3	-	6	2485	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L						zinc finger protein 99									p.S829L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTACGATTTCTCCCT	0.373000													30	54					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98825813	98825813	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:98825813G>A	ENST00000266058.4	-	5	689	c.444C>T	c.(442-444)atC>atT	p.I148I	SLIT1_ENST00000371041.3_Silent_p.I148I|SLIT1_ENST00000371070.4_Silent_p.I148I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	148					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTTTCCTGGGGATGGCCTGGA	0.557000													3	11					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535510	110535510	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:110535510C>T	ENST00000378402.5	+	76	12483	c.12379C>T	c.(12379-12381)Ctc>Ttc	p.L4127F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4127					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGGCCATACTCAAGGACTC	0.383000										HNSCC(38;0.096)			27	44					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4068974	4068974	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:4068974G>A	ENST00000274673.3	-	7	1886	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	495																	TTAGCAATAAGGGAAGGCGAC	0.368000													39	42					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27024254	27024254	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:27024254C>T	ENST00000382009.3	+	13	2429	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000237364.5_Missense_Mutation_p.S713L|STIM2_ENST00000467087.1_Missense_Mutation_p.S626L|STIM2_ENST00000465503.1_Missense_Mutation_p.S634L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	626					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGAAAGATATCAAGAGATGAG	0.468000													24	69					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890280	30890280	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:30890280C>T	ENST00000321897.5	+	20	2618	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	VARS2_ENST00000416670.2_Silent_p.S662S|VARS2_ENST00000541562.1_Silent_p.S692S|VARS2_ENST00000542001.1_Silent_p.S522S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	662					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						TGAGCAAGTCCCTGGGGAATG	0.602000													38	130					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60561513	60561513	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60561513C>T	ENST00000308287.1	+	5	525	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	143						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TCGTCATCTCCAAGGATCTCT	0.517000													38	84					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229541	140229541	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140229541C>T	ENST00000378122.3	+	1	2185	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667000													47	81					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257892	52257892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:52257892G>A	ENST00000597542.1	-	9	1469	c.512C>T	c.(511-513)tCc>tTc	p.S171F	TLR9_ENST00000360658.2_Missense_Mutation_p.S147F|TLR9_ENST00000494383.1_Silent_p.I300I			Q9NR96	TLR9_HUMAN	toll-like receptor 9	147					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGGGACAGGGATATGAGGGA	0.557000													58	163					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209215	55209215	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:55209215G>A	ENST00000201031.2	+	5	1056	c.813G>A	c.(811-813)tcG>tcA	p.S271S	TFAP2C_ENST00000544508.1_Silent_p.S102S	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	271					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAGCCAAATCGAAAAATGGAG	0.453000													27	52					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918692	106918692	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106918692C>T	ENST00000369701.3	+	11	1899	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	558						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTGAAAATCCATATTCCTC	0.448000													9	50					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878087	49878087	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49878087G>A	ENST00000221498.2	+	5	936	c.531G>A	c.(529-531)cgG>cgA	p.R177R	DKKL1_ENST00000594268.1_Silent_p.R35R|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	177					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGCCACGGCGGAGGTCCCACC	0.652000													6	18					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145862240	145862240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:145862240C>T	ENST00000296702.5	+	13	2010	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S	TCERG1_ENST00000394421.2_Missense_Mutation_p.P637S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	658					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCATTGTCCCTCTGGAGGC	0.408000													13	24					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751592	19751592	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19751592G>A	ENST00000400113.3	-	4	635	c.531C>T	c.(529-531)gtC>gtT	p.V177V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	177					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGGCCGTGGAGACCTGGGGGG	0.562000													55	123					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55252025	55252025	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55252025G>A	ENST00000308796.6	+	4	318	c.272G>A	c.(271-273)tGa>tAa	p.*91*	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Silent_p.*86*	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	0						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						GTGTGTCCCTGAGATGGAATC	0.428000													32	67					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927624	119927624	+	Missense_Mutation	SNP	G	G	A	rs144704512		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119927624G>A	ENST00000361035.4	+	5	831	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	HAO2_ENST00000325945.3_Missense_Mutation_p.R170Q	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	170	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CATGACATTCGAAACCAGTTG	0.403000													16	33					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33000324	33000324	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:33000324C>T	ENST00000374864.4	+	5	429	c.216C>T	c.(214-216)atC>atT	p.I72I	ITCH_ENST00000262650.6_Silent_p.I72I|ITCH_ENST00000535650.1_5'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	72	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTTTTAGTATCGTTACCCCTG	0.303000													12	20					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110551662	110551662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:110551662C>T	ENST00000369799.5	+	2	494	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	AHCYL1_ENST00000359172.3_5'UTR|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_5'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	43					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ATAGCAAATCCAGTTTGCTGA	0.393000													16	24					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884912	117884912	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:117884912C>G	ENST00000439649.3	-	5	942	c.575G>C	c.(574-576)cGg>cCg	p.R192P	GFRA1_ENST00000544592.1_Missense_Mutation_p.R76P|GFRA1_ENST00000355422.6_Missense_Mutation_p.R197P|GFRA1_ENST00000369236.1_Missense_Mutation_p.R192P	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	197					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AAAGAACTGCCGGAGGGCCTT	0.607000													9	33					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969297	47969297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47969297G>A	ENST00000236877.6	-	2	759	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTCCAGATGCGAACGGTGCCC	0.587000													4	23					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135315146	135315146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:135315146C>T	ENST00000285968.6	+	35	5013	c.4987C>T	c.(4987-4989)Cag>Tag	p.Q1663*		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1663					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTGCGCTGTCAGGATGTTAG	0.388000													27	38					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624139	154624139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:154624139C>T	ENST00000260010.6	+	1	1488	c.80C>T	c.(79-81)tCt>tTt	p.S27F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	27					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AATCAGGCTTCTCTGTCTTGT	0.502000													32	42					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213697	200213697	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:200213697G>A	ENST00000443023.1	-	6	2188	c.723C>T	c.(721-723)ccC>ccT	p.P241P	SATB2_ENST00000260926.5_Silent_p.P300P|SATB2_ENST00000417098.1_Silent_p.P300P|SATB2_ENST00000457245.1_Silent_p.P300P|SATB2_ENST00000428695.1_Silent_p.P182P			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	300						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GACTAAGCTGGGGAGAAAGAA	0.517000													29	62					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15013756	15013756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:15013756G>A	ENST00000299443.5	+	11	1676	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	542						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GGAACTAGATGAAACAAAACA	0.358000													25	18					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095799	58095799	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:58095799G>A	ENST00000357272.4	+	16	2551	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	FLNB_ENST00000419752.2_Missense_Mutation_p.D627N|FLNB_ENST00000493452.1_Missense_Mutation_p.D627N|FLNB_ENST00000490882.1_Missense_Mutation_p.D796N|FLNB_ENST00000348383.5_Missense_Mutation_p.D796N|FLNB_ENST00000295956.4_Missense_Mutation_p.D796N|FLNB_ENST00000358537.3_Missense_Mutation_p.D796N|FLNB_ENST00000429972.2_Missense_Mutation_p.D796N			O75369	FLNB_HUMAN	filamin B, beta	796					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGACGTGGATTTTGACAT	0.443000													71	115					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:9546766G>A	ENST00000378429.3	-	6	1802	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_ENST00000353224.5_Missense_Mutation_p.S419F|PAK7_ENST00000378423.1_Missense_Mutation_p.S419F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000													24	43					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391069	125391069	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125391069G>A	ENST00000304833.3	-	1	783	c.746C>T	c.(745-747)tCc>tTc	p.S249F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGTGAGGTGGGATCCACAGGT	0.542000													32	37					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634475	27634475	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:27634475C>T	ENST00000305188.8	+	3	888	c.650C>T	c.(649-651)tCt>tTt	p.S217F	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	217					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGAAAAAAATCTTCTCTTAGA	0.408000									SC Phocomelia syndrome				10	37					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418721	20418721	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:20418721C>T	ENST00000222573.3	+	4	1120	c.436C>T	c.(436-438)Cct>Tct	p.P146S	ITGB8_ENST00000537992.1_Missense_Mutation_p.P11S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	146	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GAAGAAATATCCTGTGGATCT	0.313000													35	48					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653727	3653727	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3653727G>A	ENST00000263087.4	-	16	2041	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	648					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCAGCCATGGACATGCCGAA	0.622000													9	41					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114469087	114469087	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:114469087G>A	ENST00000375353.3	+	2	73		c.e2-1			NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCTCCCCACAGAAGGGCTTTC	0.652000													33	55					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502706	94502706	+	Missense_Mutation	SNP	C	C	T	rs61752425		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:94502706C>T	ENST00000370225.3	-	25	3894	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1270					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTACCTCTTCCAGGGGAGTG	0.453000													35	53					0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37633525	37633525	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:37633525C>T	ENST00000328195.3	+	7	754	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	229							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCGCGGATTTCCAGCATGCGG	0.572000													25	84					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246510	97246510	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:97246510C>T	ENST00000229955.3	-	2	1443	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	GPR63_ENST00000417980.1_Silent_p.L366L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	366						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TCAGCGGATTCAATGCAGACT	0.458000													33	19					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66667037	66667037	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:66667037C>T	ENST00000488550.1	+	3	601	c.302C>T	c.(301-303)cCc>cTc	p.P101L	MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.P101L|MEIS1_ENST00000444274.2_Missense_Mutation_p.P69L|MEIS1_ENST00000398506.2_Missense_Mutation_p.P99L|MEIS1_ENST00000495021.2_Missense_Mutation_p.P36L|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000272369.9_Missense_Mutation_p.P101L|MEIS1_ENST00000560281.2_Missense_Mutation_p.P101L			O00470	MEIS1_HUMAN	Meis homeobox 1	101							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACTTGTACCCCCCGCGAGCCG	0.478000													16	27					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121464	58121464	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:58121464A>C	ENST00000184956.6	-	20	3022	c.3006T>G	c.(3004-3006)aaT>aaG	p.N1002K	HEATR6_ENST00000585976.1_Missense_Mutation_p.N890K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1002							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGTCAGGGCATTGTAGGCCT	0.547000													27	65					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9875182	9875182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:9875182G>A	ENST00000256190.8	-	20	2578	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	814					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)		CCGCACAACAGAATTGGCAAT	0.403000													53	101					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108974	147108974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:147108974C>T	ENST00000383075.3	-	4	1260	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZIC4_ENST00000425731.3_Missense_Mutation_p.D288N|ZIC4_ENST00000484399.1_Missense_Mutation_p.D250N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.D250N|ZIC4_ENST00000491672.1_Missense_Mutation_p.D44N|ZIC4_ENST00000525172.2_Missense_Mutation_p.D300N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	250						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCTTACGGTCGCTGCTGTTG	0.612000													5	31					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547739	15547739	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15547739G>A	ENST00000389282.4	-	4	2687	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	WIZ_ENST00000263381.6_Missense_Mutation_p.P136L|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	825						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TCGGCCCAGGGGGCTGGGGGG	0.662000													18	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091597	9091597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9091597C>T	ENST00000397910.4	-	1	421	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	73	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						GGTGGTTCTTCCCACAACCGA	0.517000													24	85					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873660	35873660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35873660C>T	ENST00000303115.3	+	5	745	c.616C>T	c.(616-618)Cga>Tga	p.R206*	IL7R_ENST00000343305.4_Nonsense_Mutation_p.R206*|IL7R_ENST00000506850.1_Nonsense_Mutation_p.R206*	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	206	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTAAAGTTCGATCCATCCC	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						20	31					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552713	95552713	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:95552713C>T	ENST00000568768.1	-	0	476																											TGGCAGAATCCAGTAAAACAA	0.408000													11	18					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321362	52321362	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:52321362G>T	ENST00000356297.4	-	17	2922	c.2822C>A	c.(2821-2823)cCc>cAc	p.P941H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P941H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	941					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACTCGGTGGGTGGGCCTGT	0.652000													11	13					3.07112e-06	3.09839e-06	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121929759	121929759	+	Missense_Mutation	SNP	C	C	T	rs151087333		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:121929759C>T	ENST00000265922.3	-	8	2350	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		630					cell cycle arrest|cell death	cytoplasm	protein binding	p.R630Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGTCTCATTTCGCAGTAGGGT	0.537000													77	97					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508428	71508428	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:71508428C>T	ENST00000396073.3	+	9	1566	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	429					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTTGTTCGCAATGAAAA	0.468000													11	57					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9984768	9984768	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:9984768C>T	ENST00000383811.3	+	8	1424	c.825C>T	c.(823-825)gcC>gcT	p.A275A	CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Silent_p.A275A|CRELD1_ENST00000397170.3_Silent_p.A275A|CRELD1_ENST00000452070.1_Silent_p.A275A	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	275					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGACTGTGCCAAGGCCTGCC	0.627000													30	66					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406415	39406415	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:39406415G>A	ENST00000378803.1	-	8	839	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CDKL4_ENST00000395035.3_Silent_p.L280L	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	280	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AGCTCTCCAGGAGTTGGGAAC	0.433000													8	54					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173468	54173468	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54173468C>T	ENST00000259782.4	+	1	216	c.120C>T	c.(118-120)acC>acT	p.T40T	TINAG_ENST00000370864.3_Silent_p.T22T|TINAG_ENST00000370869.3_Silent_p.T36T|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	40					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGAATCACACCGTTTTGCAAG	0.398000													70	82					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273074	28273074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:28273074G>A	ENST00000354638.3	-	4	613	c.458C>T	c.(457-459)tCc>tTc	p.S153F	OCA2_ENST00000353809.5_Missense_Mutation_p.S153F|OCA2_ENST00000382996.2_Missense_Mutation_p.S153F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	153					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCCCTTCTCGGAGGAGGCAGA	0.602000									Oculocutaneous Albinism				24	59					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966928	4966928	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrY:4966928C>T	ENST00000333703.4	+	5	1789	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P437S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P437S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCATGAAATTCCTTTCAGATT	0.403000													23	68					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547918	35547918	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:35547918C>T	ENST00000536438.1	-	10	1236	c.921G>A	c.(919-921)aaG>aaA	p.K307K	FKBP5_ENST00000540787.1_Silent_p.K128K|FKBP5_ENST00000539068.1_Silent_p.K307K|FKBP5_ENST00000357266.4_Silent_p.K307K	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	307					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTTCGATTCCTTTTCTGATA	0.433000													42	124					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853297	2853297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:2853297C>T	ENST00000334241.4	+	4	1372	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Nonsense_Mutation_p.R411*	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R412*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCCTCCTTTCGAGGACACAT	0.468000													20	10					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581377	7581377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:7581377G>A	ENST00000379802.3	+	23	5295	c.4954G>A	c.(4954-4956)Gaa>Aaa	p.E1652K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1652	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)		GAGGACCCAGGAAGAGCTGAG	0.557000													52	94					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76393554	76393554	+	Missense_Mutation	SNP	G	G	A	rs34219193		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:76393554G>A	ENST00000357063.3	+	14	3506	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	LMO7_ENST00000321797.8_Missense_Mutation_p.R464Q|LMO7_ENST00000526202.1_Missense_Mutation_p.R314Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R749Q|LMO7_ENST00000341547.4_Missense_Mutation_p.R415Q|LMO7_ENST00000465261.2_Missense_Mutation_p.R464Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	749						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R415Q(1)|p.R749Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATCGTCGAAAAAGTTAC	0.408000													30	39					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167016	166167016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:166167016C>T	ENST00000375437.2	+	7	1171	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SCN2A_ENST00000283256.6_Missense_Mutation_p.S294F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S294F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S294F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	294					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATATCACTTCCTTCTTTAAC	0.348000													31	31					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578678	24578678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:24578678C>T	ENST00000319715.4	+	15	2236	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P602S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P602S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGTCCCTCCTCCAGGGTTTCC	0.542000													118	140					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445621	78445621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:78445621G>A	ENST00000306773.4	-	4	1145	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	330	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCCATCCTGGTAGGCCTCC	0.627000													17	28					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888447	3888447	+	Missense_Mutation	SNP	G	G	A	rs147112564		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:3888447G>A	ENST00000319331.3	+	2	2883	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	708						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AACCCAGGTCGACACATCCAG	0.443000													6	21					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919565	70919565	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:70919565G>A	ENST00000264436.3	-	7	1119	c.675C>T	c.(673-675)atC>atT	p.I225I	ADD2_ENST00000413157.2_Silent_p.I225I|ADD2_ENST00000355733.3_Silent_p.I225I|ADD2_ENST00000407644.2_Silent_p.I225I|ADD2_ENST00000430656.1_Silent_p.I241I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	225					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCAGGTGGATGATGCAGCGCA	0.607000													13	17					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712584	28712584	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28712584C>T	ENST00000257197.3	-	14	2446	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	DSC1_ENST00000257198.5_Missense_Mutation_p.A729T|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	729					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)			TTTTGCTGGGCTATGTCTTCT	0.343000													22	43					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605199	195605199	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195605199C>A	ENST00000333602.6	-	9	1798	c.1181G>T	c.(1180-1182)cGg>cTg	p.R394L	TNK2_ENST00000428187.1_Missense_Mutation_p.R426L|TNK2_ENST00000381916.2_Missense_Mutation_p.R457L|TNK2_ENST00000392400.1_Missense_Mutation_p.R394L|TNK2_ENST00000316664.3_Missense_Mutation_p.R394L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	394	SH3.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R394L(2)|p.R457L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTGAAGGGCCCGCATGTCTGT	0.617000													4	151					0.150653	0.150949	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48461503	48461503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:48461503G>A	ENST00000358536.4	-	11	2461	c.2192C>T	c.(2191-2193)tCc>tTc	p.S731F	PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S731F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	731	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGAGCAGGGAAGGACTAGC	0.677000													14	31					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195177	31195177	+	Splice_Site	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31195177A>T	ENST00000254108.7	+	4	295		c.e4-1		FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000380244.3_Intron	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TTATCCTGGTAGCAGGCTATG	0.483000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								26	105					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100116933	100116933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:100116933G>A	ENST00000375202.2	+	37	4569	c.3217G>A	c.(3217-3219)Gag>Aag	p.E1073K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1073K|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1044K					coiled-coil domain containing 180																		TGCCCGGATAGAGTTGGTTGA	0.493000													24	59					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104719121	104719121	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104719121C>G	ENST00000526691.1	+	9	1384	c.928C>G	c.(928-930)Caa>Gaa	p.Q310E	TXNRD1_ENST00000427956.1_Missense_Mutation_p.Q373E|TXNRD1_ENST00000503506.2_Missense_Mutation_p.Q258E|TXNRD1_ENST00000540716.1_Missense_Mutation_p.Q220E|TXNRD1_ENST00000388854.3_Missense_Mutation_p.Q310E|TXNRD1_ENST00000525566.1_Missense_Mutation_p.Q408E|TXNRD1_ENST00000429002.2_Missense_Mutation_p.Q408E|TXNRD1_ENST00000524698.1_Missense_Mutation_p.Q258E|TXNRD1_ENST00000397736.2_Missense_Mutation_p.Q302E|TXNRD1_ENST00000526950.1_Missense_Mutation_p.Q327E|TXNRD1_ENST00000529546.1_Missense_Mutation_p.Q220E|TXNRD1_ENST00000354940.6_Missense_Mutation_p.Q258E|TXNRD1_ENST00000378070.4_Missense_Mutation_p.Q357E|TXNRD1_ENST00000526390.1_Missense_Mutation_p.Q302E|TXNRD1_ENST00000542918.1_Missense_Mutation_p.Q308E	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	408					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						ACAGGTTGAACAAATTGAAGC	0.403000													11	9					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973182	46973182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:46973182G>A	ENST00000313683.10	-	2	1416	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	PNMAL1_ENST00000438932.2_Intron|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	371										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TAGGAGACAGGGCCCAAGCTC	0.562000													28	127					0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249392	3249392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3249392C>T	ENST00000389832.5	-	2	944	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R212Q|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAAGCCCCGGGGTGGGGG	0.672000													11	0					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060883	87060883	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:87060883G>A	ENST00000276616.2	-	3	1040	c.966C>T	c.(964-966)acC>acT	p.T322T		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	322							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTGCAGCCATGGTGATCACCC	0.547000													33	69					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532000													52	191					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247876010	247876010	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247876010G>A	ENST00000302084.2	-	1	95	c.48C>T	c.(46-48)ggC>ggT	p.G16G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AACCAGGAAAGCCCAGTAAGA	0.458000													25	92					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805802	54805802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54805802G>A	ENST00000306858.7	+	5	2149	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	678										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTAGATCCTGGAAATAGTAAG	0.358000													38	52					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241031932	241031932	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:241031932G>A	ENST00000366565.1	-	9	945	c.564C>T	c.(562-564)atC>atT	p.I188I	RGS7_ENST00000366563.1_Silent_p.I188I|RGS7_ENST00000366562.4_Silent_p.I188I|RGS7_ENST00000407727.1_Silent_p.I188I|RGS7_ENST00000446183.2_Silent_p.I104I|RGS7_ENST00000331110.7_Silent_p.I162I|RGS7_ENST00000348120.2_Silent_p.I135I|RGS7_ENST00000401882.1_Silent_p.I135I|RGS7_ENST00000366564.1_Silent_p.I188I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	188					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGCTGTCAAGGATCTTCCTTT	0.463000													17	56					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713772	19713772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19713772G>A	ENST00000284885.3	-	13	1555	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	508					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGTTCTGGATAAAGACTC	0.393000													33	52					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101629886	101629886	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:101629886C>T	ENST00000311812.2	-	5	544	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	SNX31_ENST00000428383.2_Missense_Mutation_p.E33K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	132					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTTATAATTTCGATTCTAATA	0.368000													18	61					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174488	92174488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92174488G>A	ENST00000256343.3	-	6	619	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	155					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R155*(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTTACCTCGAATAACATCC	0.353000													14	37					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48346606C>T	ENST00000319856.4	+	1	135	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000													33	78					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454742	96454742	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:96454742C>T	ENST00000285979.6	+	4	749	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.H184Y	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGTTATTTTCCATGATCGATT	0.398000													14	59					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1501680	1501680	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:1501680C>T	ENST00000329957.6	-	3	497	c.308G>A	c.(307-309)aGc>aAc	p.S103N	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	72						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GGAGATGGTGCTATACTGCAG	0.567000													39	106					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229058	21229058	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21229058G>A	ENST00000233242.1	-	26	10809	c.10682C>T	c.(10681-10683)tCc>tTc	p.S3561F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3561					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGAGGGAATATATGCG	0.458000													139	493					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11118916	11118916	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:11118916G>A	ENST00000376957.2	-	3	402	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	108					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	ACCTCCCGCAGGACACCTCCA	0.667000													9	9					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142649124	142649124	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:142649124A>T	ENST00000477265.1	+	5	5154	c.146A>T	c.(145-147)gAa>gTa	p.E49V	IL15_ENST00000514653.1_Missense_Mutation_p.E49V|IL15_ENST00000296545.7_Missense_Mutation_p.E76V|IL15_ENST00000320650.4_Missense_Mutation_p.E76V|IL15_ENST00000529613.1_Missense_Mutation_p.E76V|IL15_ENST00000394159.1_Missense_Mutation_p.E49V			P40933	IL15_HUMAN	interleukin 15	76					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TTATATACGGAAAGTGATGTT	0.264000													7	29					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163059452C>T	ENST00000188790.4	-	14	1360	c.1152_splice	c.e14-1	p.E385_splice	FAP_ENST00000443424.1_Splice_Site_p.E360_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000													27	48					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227189	38227189	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:38227189C>T	ENST00000373048.4	-	3	737	c.738G>A	c.(736-738)ggG>ggA	p.G246G	EPHA10_ENST00000427468.2_Silent_p.G246G|EPHA10_ENST00000319637.6_Silent_p.G246G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCAGGCTCCCCTTCCGAGT	0.726000													7	20					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74307655	74307655	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:74307655C>T	ENST00000409262.3	+	3	2211	c.2211C>T	c.(2209-2211)atC>atT	p.I737I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	737							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCATCCGGATCGAGAAGGTCA	0.547000													11	21					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202163199	202163199	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:202163199C>T	ENST00000367278.3	+	1	171	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	28	LRRNT.					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						cgccccccagcccggcccggg	0.771000													3	5					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197194326	197194326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:197194326G>A	ENST00000260983.2	-	5	726	c.544C>T	c.(544-546)Cga>Tga	p.R182*	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	182	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACAAGTTTTCGAGAATGCAGG	0.413000													36	37					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293091	36293091	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:36293091C>T	ENST00000437635.2	-	6	1314	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	379										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCGGAAGCTCCTCTCCAGGTT	0.562000													28	59					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532423	92532423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:92532423C>T	ENST00000298047.6	+	9	6261	c.6244C>T	c.(6244-6246)Cca>Tca	p.P2082S	FAT3_ENST00000525166.1_Missense_Mutation_p.P1932S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2082S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2082	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAATTCTCCAGTCTTTGT	0.498000										TCGA Ovarian(4;0.039)			234	483					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928434	137928434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137928434G>A	ENST00000409968.1	+	7	1827	c.1649G>A	c.(1648-1650)gGg>gAg	p.G550E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G519E|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATCAGAAGGGATCTGTTTC	0.537000													22	32					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753556	19753556	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19753556T>G	ENST00000400113.3	-	2	255	c.151A>C	c.(151-153)Acg>Ccg	p.T51P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	51					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAAGAACGTGTTGAAGGAG	0.562000													35	82					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66021917	66021917	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:66021917G>A	ENST00000443035.3	-	10	1481	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	DENND4A_ENST00000431932.2_Silent_p.S422S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	422	DENN.				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						ATGGCCGTAGGGAATGGATAA	0.388000													4	7					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770459	25770459	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25770459C>T	ENST00000377905.4	+	4	581	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	154					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACCCTCTTCATTCCACTGG	0.493000													53	97					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	C	T	rs150230498		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:12907847C>T	ENST00000317869.6	-	2	521	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CGCTGCTGATCGTTTCACACC	0.488000													18	75					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38969230	38969230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:38969230C>T	ENST00000355481.4	+	31	4741	c.4610C>T	c.(4609-4611)aCc>aTc	p.T1537I	RYR1_ENST00000360985.3_Missense_Mutation_p.T1537I|RYR1_ENST00000359596.3_Missense_Mutation_p.T1537I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1537	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAGCAACACCTTTTTCCAG	0.552000													9	42					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45774555	45774555	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45774555C>T	ENST00000397928.1	+	2	635	c.190C>T	c.(190-192)Cct>Tct	p.P64S	TRPM2_ENST00000300481.9_Missense_Mutation_p.P64S|TRPM2_ENST00000300482.5_Missense_Mutation_p.P64S|TRPM2_ENST00000397932.2_Missense_Mutation_p.P64S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	64						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTCGTGGATTCCTGAAAACAT	0.453000													24	57					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73669387	73669387	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:73669387C>T	ENST00000339764.1	+	2	845	c.94C>T	c.(94-96)Cac>Tac	p.H32Y		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	32	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCTTAAGCACCACCCGTTGAA	0.537000													10	52					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866217	139866217	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:139866217G>A	ENST00000370532.2	-	1	506	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	105	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTCTTCCAGGAAATCCGTGT	0.448000													63	21					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41932591	41932591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:41932591G>A	ENST00000379406.3	+	11	1563	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	NAA16_ENST00000379367.3_Missense_Mutation_p.M413I|NAA16_ENST00000403412.3_Missense_Mutation_p.M413I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	413					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTCTATATGAAAGCAAAAA	0.318000													19	41					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800921	18800921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:18800921G>A	ENST00000433979.1	+	32	4413	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D1474N|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D1433N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1433					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTCCCACTCGATAAAGAAAA	0.358000													11	23					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412096	33412096	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:33412096C>T	ENST00000404816.2	+	6	1728	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	LTBP1_ENST00000402934.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H459Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.H133Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H133Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	459					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGTCATCCATTCAACACA	0.512000													9	40					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315495	125315495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125315495G>A	ENST00000373688.2	+	1	105	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAAGGGATGGGAAAACCAGGC	0.448000													19	52					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994955	11994955	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11994955A>G	ENST00000333796.3	-	1	1631	c.1315T>C	c.(1315-1317)Ttc>Ctc	p.F439L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	439					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTTGGGGGAATTTCCAGTGG	0.512000													19	122					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:176993856C>T	ENST00000367654.2	-	6	1146	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R378Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R378Q			O14525	ASTN1_HUMAN	astrotactin 1	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGACTTCGGGGAGAACC	0.493000													13	32					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25178514	25178514	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:25178514G>A	ENST00000276440.7	+	16	1605	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	521	DHR-1.					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)		TGCTATAGAAGAAGTCACACG	0.338000													12	24					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34208985	34208985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34208985C>T	ENST00000373381.4	-	14	2245	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	650	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCTGGTTTCCTGAGAAGGT	0.587000													11	45					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028486	37028486	+	Missense_Mutation	SNP	C	C	G	rs142735792	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:37028486C>G	ENST00000358047.3	+	1	2055	c.2003C>G	c.(2002-2004)cCg>cGg	p.P668R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	668								p.P668Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCCCCCGGAGCCCCCC	0.642000													30	8					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639013	3639013	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:3639013C>T	ENST00000335312.3	-	16	1877	c.1787_splice	c.e16-1	p.V597_splice	PIP5K1C_ENST00000539785.1_Splice_Site_p.V597_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.V597_splice|PIP5K1C_ENST00000589578.1_Splice_Site_p.V597_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	597					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GAAGCCTCCACCCTGGGGACA	0.667000													39	25					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:26822398G>A	ENST00000376236.4	+	9	1299	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000													9	25					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958620	41958620	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:41958620G>A	ENST00000269095.4	-	8	1215	c.911C>T	c.(910-912)cCa>cTa	p.P304L	MPP2_ENST00000518766.1_Missense_Mutation_p.P349L|MPP2_ENST00000377184.3_Missense_Mutation_p.P321L|MPP2_ENST00000461854.1_Missense_Mutation_p.P328L|MPP2_ENST00000523501.1_Missense_Mutation_p.P293L|MPP2_ENST00000536246.1_Missense_Mutation_p.P293L|MPP2_ENST00000520305.1_Missense_Mutation_p.P165L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	328	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ACCTGAGTTTGGTGTCAGCTC	0.602000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	26					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755640	124755640	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124755640G>A	ENST00000368886.5	-	4	506	c.186C>T	c.(184-186)tcC>tcT	p.S62S	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TTTCATCCAAGGAAACTTCAA	0.423000													14	46					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37315973	37315973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:37315973C>T	ENST00000373091.3	-	9	1281	c.1265G>A	c.(1264-1266)gGc>gAc	p.G422D	GRIK3_ENST00000373093.4_Missense_Mutation_p.G422D|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	422					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGCCTCGGCCTTTGGCAAC	0.577000													23	75					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38950197	38950197	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38950197G>A	ENST00000306658.7	-	6	1145	c.1080C>T	c.(1078-1080)caC>caT	p.H360H		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	360	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGACCTGGTGCAGCTGCT	0.572000													76	50					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409049	105409049	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:105409049C>A	ENST00000333244.5	-	7	12858	c.12739G>T	c.(12739-12741)Ggc>Tgc	p.G4247C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4247						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)			GCCTTGGGGCCTTTCAGGTCC	0.647000													37	140					3.33393e-15	3.38022e-15	1	1	0
RFX3	5991	broad.mit.edu	37	9	3330346	3330346	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:3330346G>T	ENST00000382004.3	-	5	698	c.387C>A	c.(385-387)agC>agA	p.S129R	RFX3_ENST00000302303.1_Missense_Mutation_p.S129R|RFX3_ENST00000358730.2_Missense_Mutation_p.S129R	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	129					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCAGAGCTGCTGATGAGTT	0.542000													21	24					1.00905e-13	1.02204e-13	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25294445	25294445	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25294445C>T	ENST00000400358.4	+	19	2586	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	SGSM1_ENST00000400359.4_Silent_p.L898L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	898	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGAAAGTCTCTTCCCTGCCC	0.582000													32	37					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171898	102171898	+	Missense_Mutation	SNP	G	G	A	rs147615734		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:102171898G>A	ENST00000306176.1	+	3	390	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G81E|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G81E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	81	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CACTGCAGAGGGTTCATCAAT	0.448000													23	29					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537429	31537429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:31537429G>A	ENST00000261592.5	-	8	1586	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	NOL4_ENST00000538587.1_Missense_Mutation_p.S356F|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.S145F|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	430						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGCTGCTTAGAGATTGGGAC	0.483000													14	29					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158548760C>T	ENST00000368150.1	-	1	929	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000													48	57					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785559	39785559	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:39785559T>C	ENST00000518237.1	+	10	1706	c.1067T>C	c.(1066-1068)aTt>aCt	p.I356T	IDO1_ENST00000522495.1_Missense_Mutation_p.I356T|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	356					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TACATCCTGATTCCTGCAAGC	0.488000													5	10					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053168	124053168	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:124053168G>A	ENST00000360013.3	+	9	1594	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	KALRN_ENST00000240874.3_Silent_p.G489G|KALRN_ENST00000460856.1_Silent_p.G489G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	489					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGCCCTGGGAACTCCGAAT	0.562000													59	101					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133848262	133848262	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:133848262C>T	ENST00000285928.2	+	7	978	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	303							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATCATGACCTCCTGGAAGTGA	0.448000													18	16					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871135	71871135	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71871135C>T	ENST00000258104.3	+	41	4728	c.4451C>T	c.(4450-4452)tCc>tTc	p.S1484F	DYSF_ENST00000409762.1_Missense_Mutation_p.S1501F|DYSF_ENST00000409651.1_Missense_Mutation_p.S1516F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.S1506F|DYSF_ENST00000394120.2_Missense_Mutation_p.S1485F|DYSF_ENST00000413539.2_Missense_Mutation_p.S1515F|DYSF_ENST00000409744.1_Missense_Mutation_p.S1492F|DYSF_ENST00000429174.2_Missense_Mutation_p.S1505F|DYSF_ENST00000410020.3_Missense_Mutation_p.S1523F|DYSF_ENST00000410041.1_Missense_Mutation_p.S1502F|DYSF_ENST00000409582.3_Missense_Mutation_p.S1522F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1484						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCTTTGCCTCCATAGGGGAG	0.502000													11	15					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188629	70188629	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:70188629C>T	ENST00000320256.4	-	1	768	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	64					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ACCCACAGAGCAGTGTCGGCG	0.657000													12	29					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716248	13716248	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:13716248C>T	ENST00000279593.3	-	13	4133	c.3924G>A	c.(3922-3924)gtG>gtA	p.V1308V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1308					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGCAGGTCCACGAAGGTGT	0.592000													41	54					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964478	102964478	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:102964478C>T	ENST00000233954.1	+	9	1315	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	348					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCTGGTTATCATCCTAAAAA	0.348000													6	26					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	74001760	74001760	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:74001760C>T	ENST00000370384.3	-	2	667	c.167G>A	c.(166-168)aGa>aAa	p.R56K	RP11-398K22.12_ENST00000441363.1_RNA|KHDC1_ENST00000484801.1_5'UTR	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	56						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CCTTGAGTTTCTCTCTGTAAA	0.418000													16	51					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881501	39881501	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:39881501C>T	ENST00000260356.5	+	12	2037	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	624	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCCCACGCTTCACCGGCTCAC	0.587000													40	70					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897229	21897229	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21897229G>A	ENST00000399982.2	-	2	1173	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.T370I|CHD8_ENST00000430710.3_Missense_Mutation_p.T91I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	370	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CACTGGCTGGGTGGAGGGTGG	0.542000													15	126					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47487635	47487635	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47487635G>A	ENST00000247153.3	-	4	510	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Missense_Mutation_p.S90L|CFP_ENST00000396992.3_Missense_Mutation_p.S90L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	90	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCACGTCACCGAACAGGGGGC	0.627000													3	8					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101169	119101169	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:119101169C>T	ENST00000264245.4	+	5	994	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	154	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACCTGGCCCATATCGCCT	0.522000													24	97					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317281	43317281	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43317281C>T	ENST00000372504.1	+	5	1068	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	ZNF691_ENST00000397044.3_Missense_Mutation_p.H249Y|ZNF691_ENST00000372502.1_Missense_Mutation_p.H240Y|ZNF691_ENST00000372506.1_Missense_Mutation_p.H218Y|ZNF691_ENST00000372507.1_Missense_Mutation_p.H218Y|ZNF691_ENST00000372508.3_Missense_Mutation_p.H218Y			Q5VV52	ZN691_HUMAN	zinc finger protein 691	249						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCACCGCACCCACACAGGTGA	0.587000													15	31					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110968	36110968	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:36110968C>T	ENST00000203166.5	+	16	1486	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	487					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						ACCCCGCGTCCCCAAGGGGCT	0.677000													27	112					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328375	57328375	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57328375G>A	ENST00000326441.9	-	10	1798	c.1435C>T	c.(1435-1437)Ctc>Ttc	p.L479F	PEG3_ENST00000593695.1_Missense_Mutation_p.L353F|PEG3_ENST00000423103.2_Missense_Mutation_p.L479F|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.L355F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	479					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACTCATAGAGGTTCTCTCTA	0.443000													21	79					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196645183	196645183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196645183C>T	ENST00000367429.4	+	4	655	c.415C>T	c.(415-417)Cct>Tct	p.P139S	CFH_ENST00000439155.2_Missense_Mutation_p.P139S|CFH_ENST00000359637.2_Missense_Mutation_p.P139S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	139	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAATGATATTCCTATATGTGA	0.279000													23	38					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747078	126747078	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:126747078G>C	ENST00000393409.2	+	24	4564	c.4564G>C	c.(4564-4566)Ggg>Cgg	p.G1522R	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G1499R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1522					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCCGGTGAAGGGGCTGGACTG	0.652000													14	27					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547879	15547879	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15547879G>A	ENST00000389282.4	-	4	2547	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	WIZ_ENST00000263381.6_Silent_p.F89F|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	778						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCGTGTGTCGAAGCCAGCCC	0.632000													4	26					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059796	152059796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152059796C>T	ENST00000368806.1	-	3	426	c.362G>A	c.(361-363)tGg>tAg	p.W121*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	121							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCCACTGTCCACTGACCATC	0.443000													23	70					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744773	135744773	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:135744773C>T	ENST00000375845.3	-	7	1699	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E444K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E574K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATGGGACCTTCAGTAGAAATC	0.423000													20	49					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4104196	4104196	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4104196A>C	ENST00000300737.4	+	9	1791	c.1222A>C	c.(1222-1224)Aaa>Caa	p.K408Q	STIM1_ENST00000527651.1_Missense_Mutation_p.K408Q|STIM1_ENST00000533977.1_Missense_Mutation_p.K235Q	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	408					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGTAGATCATAAAATTCTAAC	0.448000													17	66					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496083	56496083	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:56496083G>A	ENST00000370754.5	-	29	3968	c.3969C>T	c.(3967-3969)acC>acT	p.T1323T	DST_ENST00000446842.2_Silent_p.T819T|DST_ENST00000370788.2_Silent_p.T1145T|DST_ENST00000421834.2_Silent_p.T1145T|DST_ENST00000370765.6_Silent_p.T819T|DST_ENST00000370769.4_Silent_p.T1145T|DST_ENST00000312431.6_Silent_p.T1145T|DST_ENST00000361203.3_Silent_p.T1145T|DST_ENST00000518935.1_Silent_p.T819T|DST_ENST00000244364.6_Silent_p.T819T			Q03001	DYST_HUMAN	dystonin	1145					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)			CTGATCGTAGGGTAGGGACTG	0.383000													24	20					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328855	3328855	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:3328855C>T	ENST00000378398.3	+	10	2179	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	PRDM16_ENST00000514189.1_Silent_p.S699S|PRDM16_ENST00000511072.1_Silent_p.S699S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.S698S|PRDM16_ENST00000441472.2_Silent_p.S698S|PRDM16_ENST00000378391.2_Silent_p.S698S|PRDM16_ENST00000270722.5_Silent_p.S698S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	698	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATCGCATCCATTGCCGAGA	0.622000			T	EVI1	"""MDS, AML"""								30	47					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36134888	36134888	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:36134888G>A	ENST00000303965.4	-	20	3876	c.3387C>T	c.(3385-3387)ccC>ccT	p.P1129P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1129	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCACTATAATGGGAACGTCAT	0.383000													17	22					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904678	166904678	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:166904678G>A	ENST00000271417.3	-	6	795	c.740C>T	c.(739-741)cCt>cTt	p.P247L	ILDR2_ENST00000529071.1_Missense_Mutation_p.P228L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.P247L|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	247						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GACAGAGGGAGGGTACCCGGC	0.592000													18	28					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794787	176794787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:176794787C>T	ENST00000272748.4	-	13	1442	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E430K	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	399						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACTGAGGCTTCCTCATTCTCA	0.433000													28	50					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717784	8717784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:8717784C>T	ENST00000378641.3	+	20	2628	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	PLCB1_ENST00000338037.6_Missense_Mutation_p.S718F|PLCB1_ENST00000378637.2_Missense_Mutation_p.S718F|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	718	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAAACATCCCAAGGAAAT	0.398000													18	43					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995435	2995435	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:2995435G>A	ENST00000331459.1	-	1	855	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	286					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TAGATGAAGGGATTCATCATG	0.478000													17	86					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012741	73012741	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:73012741C>T	ENST00000261180.4	+	13	2353	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	753					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATTTTCTTCCTTGGCATGC	0.363000													14	51					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545814	82545814	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82545814C>T	ENST00000423517.2	-	7	11825	c.11488G>A	c.(11488-11490)Gat>Aat	p.D3830N	PCLO_ENST00000333891.8_Missense_Mutation_p.D3830N|PCLO_ENST00000437081.1_Missense_Mutation_p.D550N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3761	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATCACGATCCTCAGCTACT	0.473000													19	69					0	0	1	0	0
RP11-87F15.2	0	broad.mit.edu	37	4	177241089	177241089	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:177241089G>A	ENST00000512634.1	-	0	314																											CGGAGGACCGGAAAGGAGGCG	0.791000													12	10					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755456	91755456	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:91755456C>T	ENST00000389857.6	-	25	4520	c.4434G>A	c.(4432-4434)gtG>gtA	p.V1478V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1478					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TACCTTTCCCCACAGACCCGT	0.687000													10	17					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148682047	148682047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148682047C>T	ENST00000296721.4	+	5	492	c.394C>T	c.(394-396)Cct>Tct	p.P132S	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P132S	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	132							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGCCCTTCCTCTGGGACC	0.602000													6	8					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766826	88766826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:88766826G>A	ENST00000497649.2	+	6	1112	c.734G>A	c.(733-735)gGa>gAa	p.G245E	MEPE_ENST00000540395.1_Missense_Mutation_p.G156E|MEPE_ENST00000361056.3_Missense_Mutation_p.G269E|MEPE_ENST00000560249.1_Missense_Mutation_p.G156E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.G269E|MEPE_ENST00000395102.4_Missense_Mutation_p.G300E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	269					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTGGTAAAGGAGAAGCTACT	0.458000													16	29					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14287092	14287092	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:14287092G>A	ENST00000310358.7	+	0	2818				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCCCATGGACGGCCTGGTCAG	0.498000													8	23					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109317	21109317	+	Silent	SNP	C	C	T	rs61743445		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21109317C>T	ENST00000320704.3	-	1	533	c.534G>A	c.(532-534)caG>caA	p.Q178Q		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGAAGAAGTGCTGTACCACAG	0.597000													13	45					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422351	89422351	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:89422351C>T	ENST00000359595.3	-	4	857	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G277S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	215	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCAGCCAGCCCGCGTTGCAC	0.711000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	12					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491825	110491825	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:110491825T>C	ENST00000324068.1	-	10	1623	c.1456A>G	c.(1456-1458)Atc>Gtc	p.I486V	CAPN6_ENST00000541758.1_Missense_Mutation_p.I231V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	486	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCAGAGAAGATTCTCAGGAGA	0.512000													13	5					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53103787C>T	ENST00000408890.4	+	1	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000													7	27					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534368	31534368	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:31534368C>T	ENST00000215885.3	-	3	928	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	226	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GAGATGGAGTCGTGCTGATTC	0.612000													10	8					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400855	17400855	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:17400855C>T	ENST00000470360.1	+	4	244	c.127C>T	c.(127-129)Cct>Tct	p.P43S	SLC7A2_ENST00000004531.10_Missense_Mutation_p.P43S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.P3S|SLC7A2_ENST00000494857.1_Missense_Mutation_p.P3S|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P43S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	3					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAATGATTCCTTGCAGAGC	0.522000													25	39					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752867	55752867	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:55752867C>T	ENST00000455909.1	-	0	696					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						TTAGTTACCTCTTCCAGGAGG	0.542000													9	7					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072963	15072963	+	Silent	SNP	G	G	A	rs115350519	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15072963G>A	ENST00000598504.1	-	8	2145	c.786C>T	c.(784-786)tcC>tcT	p.S262S	SLC1A6_ENST00000600144.1_Silent_p.S262S|SLC1A6_ENST00000430939.2_Silent_p.S198S|SLC1A6_ENST00000221742.3_Silent_p.S262S|SLC1A6_ENST00000544886.2_Silent_p.S262S	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	262					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCCATTGGCGGAGCCAGGCA	0.582000													16	58					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	135969367	135969367	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:135969367G>A	ENST00000471595.1	+	1	168	c.150G>A	c.(148-150)ggG>ggA	p.G50G	PCCB_ENST00000462637.1_Silent_p.G50G|PCCB_ENST00000483687.1_Silent_p.G50G|PCCB_ENST00000469217.1_Silent_p.G50G|PCCB_ENST00000468777.1_Silent_p.G50G|PCCB_ENST00000478469.1_Silent_p.G50G|PCCB_ENST00000251654.4_Silent_p.G50G|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000466072.1_Silent_p.G50G|PCCB_ENST00000490504.1_Silent_p.G50G|PCCB_ENST00000482086.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	50	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TGCTGGGAGGGGGCCAACGCC	0.677000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	18					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977031	30977031	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:30977031C>T	ENST00000262519.8	+	8	2515	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	610	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cctccccctcccccgccgcct	0.701000													12	13					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604614	58604614	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:58604614A>G	ENST00000287275.1	-	5	740	c.350T>C	c.(349-351)gTt>gCt	p.V117A	GLYATL2_ENST00000532258.1_Missense_Mutation_p.V117A|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	117						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAGTTGCAACCTTTCTTAT	0.413000													28	48					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344949	20344949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20344949G>A	ENST00000298642.2	+	1	559	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGAGGTAGACAGCTTTTT	0.458000													50	531					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56467982	56467982	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56467982G>A	ENST00000312153.1	+	1	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.G40E(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACTGTGGTAGGAAATAGCACC	0.493000													14	96					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:41400092C>T	ENST00000373198.3	-	5	902	c.667G>A	c.(667-669)Gac>Aac	p.D223N	PTPRT_ENST00000373187.1_Missense_Mutation_p.D223N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D223N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D223N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	223	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D223N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAAAGCTTGTCATGCTGAGAC	0.498000													62	129					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541955	133541955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:133541955G>A	ENST00000409261.1	-	14	2802	c.2429C>T	c.(2428-2430)tCa>tTa	p.S810L	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S810L|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	810							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						TTTCTGAGGTGAAGACTTGCC	0.468000													45	182					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537037	5537037	+	Missense_Mutation	SNP	G	G	A	rs147073799		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5537037G>A	ENST00000380184.1	-	1	898	c.635C>T	c.(634-636)tCc>tTc	p.S212F	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGAAGGCGGGAAACTTCTGG	0.468000													139	115					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13900349C>T	ENST00000265104.4	-	15	2329	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome				15	47					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18841656	18841656	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:18841656G>A	ENST00000446231.2	-	52	9240	c.8828C>T	c.(8827-8829)cCg>cTg	p.P2943L	SMG1_ENST00000389467.3_Missense_Mutation_p.P2943L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2943					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACCATTTCTCGGTTGGATTAA	0.413000													14	20					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110862273	110862273	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:110862273G>A	ENST00000265171.5	+	2	744	c.299G>A	c.(298-300)aGa>aAa	p.R100K	EGF_ENST00000509793.1_Missense_Mutation_p.R100K|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.R100K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	100					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTTTTGCAAAGAGTTTTTCTG	0.363000													8	32					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963084	96963084	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:96963084T>G	ENST00000389672.5	+	5	1597	c.1559T>G	c.(1558-1560)tTt>tGt	p.F520C	EPHA6_ENST00000470610.2_Missense_Mutation_p.F520C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	425	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTTGAGTTTTTCTCCCAAG	0.403000													40	67					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14846068	14846068	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:14846068T>C	ENST00000380881.4	-	9	2101	c.1286A>G	c.(1285-1287)cAg>cGg	p.Q429R	FREM1_ENST00000422223.2_Missense_Mutation_p.Q428R|FREM1_ENST00000380880.3_Missense_Mutation_p.Q428R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	428					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGCTCGAGACTGCCCCTCAAG	0.488000													3	2					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586959	53586959	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53586959G>A	ENST00000267082.5	-	12	1922	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.A564V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	564	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCACAGCTGGCATCGTCACA	0.617000													21	21					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:80328892G>A	ENST00000358842.3	-	1	480	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408000													48	60					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43640713	43640713	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:43640713T>C	ENST00000378069.4	-	9	1154	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S	MAOB_ENST00000538942.1_Missense_Mutation_p.N320S|MAOB_ENST00000536181.1_Missense_Mutation_p.N320S	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	336					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GGCAGCATAGTTGCCTTCAGG	0.408000													11	8					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579967	82579967	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82579967G>A	ENST00000423517.2	-	6	10274	c.9937C>T	c.(9937-9939)Cgg>Tgg	p.R3313W	PCLO_ENST00000333891.8_Missense_Mutation_p.R3313W|PCLO_ENST00000437081.1_Missense_Mutation_p.R33W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3244					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGATCTGCCGAATCTTTTGC	0.493000													39	50					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327442	52327442	+	Silent	SNP	G	G	A	rs143644530		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52327442G>A	ENST00000339223.4	+	2	620	c.441G>A	c.(439-441)acG>acA	p.T147T	FPR3_ENST00000595991.1_Silent_p.T147T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	147					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGGTGATGACGGGACTCTGGA	0.473000													27	36					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101014449	101014449	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:101014449G>A	ENST00000360863.6	-	18	2965	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	RGS22_ENST00000523437.1_Missense_Mutation_p.S912F|RGS22_ENST00000523287.1_Missense_Mutation_p.S743F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	924	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTGATACAGAGAAGCTGGACT	0.308000													21	37					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132452	91132452	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:91132452C>T	ENST00000373094.1	+	2	2058	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	PCDH11X_ENST00000395337.2_Missense_Mutation_p.P405S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P405S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P405S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P405S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P405S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P405S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P405S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P405S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	405	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCATGAAATCCCTTTCAGATT	0.413000													4	22					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981326	45981326	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:45981326C>T	ENST00000260324.7	+	9	1592	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	SQRDL_ENST00000568606.1_Silent_p.T402T	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	402							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGCTAGAAACCTTCCCCTTTG	0.443000													46	82					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	758448	758448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:758448G>A	ENST00000215582.6	+	2	1605	c.1502G>A	c.(1501-1503)tGg>tAg	p.W501*		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GTCGTGCGGTGGGAGTACTTC	0.657000													32	25					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256406	84256406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:84256406C>T	ENST00000308251.4	-	3	1045	c.977G>A	c.(976-978)aGc>aAc	p.S326N		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	326						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGTAGGAGCTCCCGCTCGG	0.677000													8	6					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061366	111061366	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:111061366T>C	ENST00000369771.2	-	1	431	c.44A>G	c.(43-45)aAt>aGt	p.N15S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	15						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATTATCAAAATTGACCAGCGC	0.527000													11	13					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390254	48390254	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:48390254C>T	ENST00000224600.4	-	1	737	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	208	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGATCTCCGTGGTGGTGT	0.612000													18	39					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67700147	67700147	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:67700147C>G	ENST00000545606.1	+	10	3136	c.2699C>G	c.(2698-2700)aCt>aGt	p.T900S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	900					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAAGAAATAACTAGTCAACCC	0.418000													15	45					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951225	49951225	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49951225G>A	ENST00000257981.6	+	15	3001	c.2741G>A	c.(2740-2742)aGg>aAg	p.R914K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	914					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						GCGCCCCACAGGGAGGGTCCG	0.667000													9	15					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678428	88678428	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88678428G>T	ENST00000394480.1	-	10	1429	c.1108C>A	c.(1108-1110)Cac>Aac	p.H370N	NTRK3_ENST00000558676.1_Missense_Mutation_p.H370N|NTRK3_ENST00000360948.2_Missense_Mutation_p.H370N|NTRK3_ENST00000355254.2_Missense_Mutation_p.H370N|NTRK3_ENST00000317501.3_Missense_Mutation_p.H370N|NTRK3_ENST00000540489.2_Missense_Mutation_p.H370N|NTRK3_ENST00000557856.1_Missense_Mutation_p.H370N|NTRK3_ENST00000357724.2_Missense_Mutation_p.H370N|NTRK3_ENST00000542733.2_Missense_Mutation_p.H272N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	370	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTGTAGTGGGTGGGCTTG	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			44	103					7.05121e-23	7.18114e-23	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245943	166245943	+	Missense_Mutation	SNP	G	G	A	rs35761080		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:166245943G>A	ENST00000375437.2	+	27	5917	c.5627G>A	c.(5626-5628)cGa>cAa	p.R1876Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1876Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1876Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1876Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1876					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GATGCCCTTCGAATACAGATG	0.483000													26	34					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75614339	75614339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75614339G>A	ENST00000294638.5	+	8	1446	c.782G>A	c.(781-783)aGg>aAg	p.R261K	LHX8_ENST00000356261.3_Missense_Mutation_p.R251K	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGGCAGAAAGGACAGGCTTG	0.373000													5	13					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249246	88249246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:88249246C>T	ENST00000518476.1	+	6	728	c.677C>T	c.(676-678)tCg>tTg	p.S226L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	226										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCACCAGACTCGTTCATATCT	0.383000													34	63					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:93017381C>T	ENST00000523629.1	-	6	1157	c.703G>A	c.(703-705)Gat>Aat	p.D235N	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D198N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D246N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D208N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D208N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D198N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D235N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	235					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000													54	69					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509537	117509537	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:117509537C>T	ENST00000393203.2	+	6	1791	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	548	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.S548S(1)		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)		TTCCAGATTCCGTGCTTGTGG	0.383000													9	19					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452168	41452168	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:41452168C>T	ENST00000400454.1	-	25	4808	c.4331G>A	c.(4330-4332)gGg>gAg	p.G1444E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1444	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATACCAAGTCCCACATTTGAG	0.483000													42	56					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454829	39454829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39454829G>A	ENST00000280481.7	+	24	9631	c.9415G>A	c.(9415-9417)Gaa>Aaa	p.E3139K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3139					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGGGGCAAGGAAAGTTTCAG	0.572000													17	44					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325719	21325719	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21325719G>A	ENST00000256958.2	+	3	316	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	74					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CGGAAGCTTTGAAATTGGTAA	0.299000													5	20					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94038906	94038906	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94038906G>A	ENST00000440961.2	+	1	148	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	35						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CACCACAAGAGAGTGCCCAGC	0.572000													28	24					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906724	164906724	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:164906724A>G	ENST00000475390.1	-	2	2338	c.1895T>C	c.(1894-1896)cTt>cCt	p.L632P	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L632P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	632						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCCCAATAAGGTGAGAATC	0.532000										HNSCC(40;0.11)			5	24					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141948	54141948	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:54141948C>T	ENST00000265572.3	-	4	1349	c.1052G>A	c.(1051-1053)aGg>aAg	p.R351K	OPRK1_ENST00000520287.1_Missense_Mutation_p.R351K|OPRK1_ENST00000524278.1_Missense_Mutation_p.R262K|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	351					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCTCCATCCTCATCTTCAG	0.478000													22	44					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96300215	96300215	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:96300215T>A	ENST00000344280.3	-	5	876	c.319A>T	c.(319-321)Agg>Tgg	p.R107W		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	107										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACAGTCCTTTTTGTGTCG	0.328000													7	30					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070294	70070294	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70070294G>A	ENST00000446444.1	-	5	1172	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	388					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CCACCATAGGGATCCCATGGT	0.423000													28	140					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300279	18300279	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:18300279G>A	ENST00000441493.2	-	26	5500	c.5148C>T	c.(5146-5148)ggC>ggT	p.G1716G		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1716						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)		GCCGGCCCTCGCCTTTGGACT	0.587000													19	7					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237759	56237759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56237759G>A	ENST00000312240.2	-	1	255	c.215C>T	c.(214-216)tCt>tTt	p.S72F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACATTGGAAGAAAACCACAC	0.378000													26	42					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239731	142239731	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142239731G>A	ENST00000390363.2	-	0	195																											CCAGTACACAGAGAGGTCTCC	0.512000													14	46					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942275	22942275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22942275G>A	ENST00000397104.3	-	4	498	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.Q146*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGTTACACTGAAATATTTTT	0.284000													13	43					0	0	1	0	0
PMCHL2	5370	broad.mit.edu	37	5	70671819	70671819	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:70671819C>T	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							AGCTAAATTTCCTATAGGAAG	0.373000													4	16					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107735767	107735767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:107735767G>A	ENST00000388781.3	-	12	1459	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	LAMB4_ENST00000205386.4_Missense_Mutation_p.P459L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P459L|LAMB4_ENST00000414450.2_Missense_Mutation_p.P459L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	459	Laminin EGF-like 4.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACTCCCAAGGGGGTTACAGTC	0.463000													15	43					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452993	35452993	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:35452993G>A	ENST00000357182.4	-	16	3917	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1230					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTCTTCTTCGAAGTCGGTGA	0.353000													13	49					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436267	50436267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:50436267C>T	ENST00000423777.2	+	3	1144	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ATF5_ENST00000595125.1_Missense_Mutation_p.S256F|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	256					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CGGGCAGAGTCCGTGGAGCGC	0.657000													8	22					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048602	180048602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:180048602C>T	ENST00000261937.6	-	13	2038	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E654K|FLT4_ENST00000393347.3_Missense_Mutation_p.E654K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	654	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTGCACTTCGCACACATAG	0.701000													20	22					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55715400	55715400	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55715400C>T	ENST00000376350.3	-	5	658	c.636G>A	c.(634-636)agG>agA	p.R212R	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	212	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCTCAGGTTCCTCACTGGGT	0.517000													10	38					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:168233482G>A	ENST00000519560.1	-	9	1323	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_ENST00000404867.3_Missense_Mutation_p.P302S|SLIT3_ENST00000332966.8_Missense_Mutation_p.P302S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	302	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000													31	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046272	9046272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9046272G>A	ENST00000397910.4	-	5	35562	c.35359C>T	c.(35359-35361)Cct>Tct	p.P11787S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11789	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7420N(1)|p.P11787N(1)|p.P7420T(1)|p.P11787T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAAGCAGGAAATGTTTTA	0.473000													25	36					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936441	4936441	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4936441C>T	ENST00000322013.3	-	1	481	c.453G>A	c.(451-453)ctG>ctA	p.L151L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGAGAGACCAGGCCAATCC	0.473000													33	29					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46935716	46935716	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:46935716G>A	ENST00000311124.4	-	6	1784	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Silent_p.S504S|SLC19A1_ENST00000567670.1_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	544					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAGTGCAGGGGGAAGGGGTTG	0.657000													11	21					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46571458	46571458	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46571458G>A	ENST00000395905.3	-	6	1102	c.710C>T	c.(709-711)tCg>tTg	p.S237L	LRRC2_ENST00000296144.3_Missense_Mutation_p.S237L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	237										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTGCAAATTCGACATCCGCAG	0.398000													18	24					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43639593	43639593	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:43639593C>T	ENST00000378069.4	-	10	1222	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	MAOB_ENST00000538942.1_Missense_Mutation_p.E343K|MAOB_ENST00000536181.1_Missense_Mutation_p.E343K	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	359					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.E359K(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGTTACCTTTCCTCTTTGGTA	0.418000													9	3					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474335	119474335	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119474335G>A	ENST00000369429.3	-	2	335	c.326C>T	c.(325-327)tCc>tTc	p.S109F	TBX15_ENST00000207157.3_Missense_Mutation_p.S3F			Q96SF7	TBX15_HUMAN	T-box 15	109						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCCTCCATGGAAGACATGGC	0.537000													14	40					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013363	49013363	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49013363G>A	ENST00000600059.1	-	3	505	c.278C>T	c.(277-279)tCc>tTc	p.S93F	LMTK3_ENST00000270238.3_Missense_Mutation_p.S122F					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGACTGTGAGGAGGAGGTCTC	0.627000													9	20					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661319	77661319	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:77661319C>T	ENST00000296043.6	+	5	2946	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	665					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTTCTCATCTCTCCAGAACAT	0.592000													31	77					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104487275	104487275	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104487275C>T	ENST00000229330.4	+	10	1500	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	466					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATTTTATATCCATCTTTGGC	0.328000													19	23					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154254880	154254880	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:154254880A>T	ENST00000517876.1	+	8	1236	c.760A>T	c.(760-762)Aag>Tag	p.K254*	CNOT8_ENST00000520671.1_Nonsense_Mutation_p.K148*|CNOT8_ENST00000519404.1_Nonsense_Mutation_p.K200*|CNOT8_ENST00000521450.1_Nonsense_Mutation_p.K148*|CNOT8_ENST00000521583.1_Nonsense_Mutation_p.K148*|CNOT8_ENST00000403027.2_Nonsense_Mutation_p.K254*|CNOT8_ENST00000524105.1_Nonsense_Mutation_p.K90*|CNOT8_ENST00000285896.6_Nonsense_Mutation_p.K254*|CNOT8_ENST00000523698.1_Nonsense_Mutation_p.K148*			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	254					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGATGATGCCAAGTACTGTGG	0.468000													19	61					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633493	70633493	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:70633493C>T	ENST00000381269.2	-	2	2400	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	SLC8A3_ENST00000357887.3_Silent_p.E549E|SLC8A3_ENST00000534137.1_Silent_p.E549E|SLC8A3_ENST00000528359.1_Silent_p.E549E|SLC8A3_ENST00000356921.2_Silent_p.E549E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	549	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAACCTTGACCTCCATAACAC	0.498000													29	29					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969286	5969286	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5969286C>T	ENST00000329564.6	+	1	717	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237D(1)		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)		GCAGAGGGTGCCGTGGCAAAG	0.522000													5	278					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203696697	203696697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:203696697C>T	ENST00000357681.5	+	20	4430	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	ATP2B4_ENST00000391954.2_Nonsense_Mutation_p.Q1067*|ATP2B4_ENST00000341360.2_Nonsense_Mutation_p.Q1103*|ATP2B4_ENST00000367218.3_Nonsense_Mutation_p.Q1103*|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Nonsense_Mutation_p.Q1091*	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1103	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCCAGACTCAGGTACTCTG	0.572000													25	53					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018774	14018774	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:14018774G>A	ENST00000279593.3	-	2	578	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	123					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGCCCAGGATGGGGGTGA	0.552000													50	74					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113795	59113795	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:59113795C>T	ENST00000395153.3	+	4	2490	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L	DACT1_ENST00000541264.2_Silent_p.L537L|DACT1_ENST00000556859.1_Silent_p.L537L|DACT1_ENST00000395151.3_Silent_p.L537L|DACT1_ENST00000335867.4_Silent_p.L818L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	818					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACATAACCTCAAGAAGAAGA	0.458000													16	101					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315041	136315041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136315041G>A	ENST00000371929.3	+	23	3443	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R969H|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1000H|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1000	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGCTGCCTCGCCCGGAACCC	0.677000													7	29					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510698	5510698	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5510698C>T	ENST00000322641.5	+	1	784	c.762C>T	c.(760-762)ttC>ttT	p.F254F	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGTTTTCTACATCCCTG	0.507000													76	79					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759151	55759151	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55759151G>A	ENST00000343399.3	+	1	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G86E(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GTTGTGACAGGAAACAGAACC	0.433000													38	58					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681137	106681137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:106681137G>A	ENST00000526355.1	-	5	1742	c.1274C>T	c.(1273-1275)cCa>cTa	p.P425L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P446L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P425L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	425					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCCACACATGGAGAGCCCAA	0.433000													29	14					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093756	69093756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69093756G>A	ENST00000332644.5	-	10	1285	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	375	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GATATTTCTGGAATCAGGGTA	0.383000													4	22					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122353901	122353901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122353901G>A	ENST00000483793.1	+	8	1062	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	PARP15_ENST00000310366.4_Missense_Mutation_p.S302N|PARP15_ENST00000464300.2_Missense_Mutation_p.S536N|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.S233N			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	514	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.S536T(1)|p.S302T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTCTGGCAGAGCTACCAGGTA	0.408000													25	38					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955849	33955849	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33955849C>T	ENST00000389232.4	+	36	5600	c.5530C>T	c.(5530-5532)Cgc>Tgc	p.R1844C	RYR3_ENST00000415757.3_Missense_Mutation_p.R1844C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1844	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGAAGTTCCGCTACAATGA	0.572000													9	17					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10913150	10913150	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:10913150C>T	ENST00000283141.6	+	14	1358	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Silent_p.F195F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	354						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGATGAATTTCAGCATAACAG	0.343000													8	32					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:56962279C>T	ENST00000371250.3	-	6	1431	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000													15	60					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970357	108970357	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:108970357G>A	ENST00000276659.5	-	5	1187	c.567C>T	c.(565-567)acC>acT	p.T189T	RSPO2_ENST00000517781.1_Silent_p.T125T|RSPO2_ENST00000378439.2_Silent_p.T125T|RSPO2_ENST00000517939.1_Silent_p.T122T	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	189	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ATTCAGCAATGGTTGGACACA	0.438000													52	95					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62489078	62489078	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:62489078A>T	ENST00000539111.2	-	2	690	c.623T>A	c.(622-624)cTt>cAt	p.L208H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	208					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AATCTGAGCAAGGCCATAAGG	0.378000													16	43					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45010908	45010908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:45010908C>T	ENST00000398000.2	-	5	1365	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	431						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CAGAACTTATCGTTATATTTG	0.527000													43	21					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533825	24533825	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:24533825C>T	ENST00000357578.3	+	10	1638	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S470F|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S511F|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S410F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	498					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGATTAATTTCCTCTGTGGAG	0.517000													99	101					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043462	71043462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71043462G>A	ENST00000272367.2	-	4	1127	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R351C	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	351			R -> H (in dbSNP:rs722896).		endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGTCCAGACGGCCATTTGCT	0.408000													27	55					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031693	87031693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:87031693G>A	ENST00000370563.3	+	6	986	c.944G>A	c.(943-945)gGa>gAa	p.G315E	CLCA4_ENST00000263723.5_Missense_Mutation_p.G28E	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	315	VWFA.					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)		GATAAGTCTGGAAGCATGGGG	0.413000													16	53					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132451	91132451	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:91132451C>T	ENST00000373094.1	+	2	2057	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	PCDH11X_ENST00000395337.2_Silent_p.I404I|PCDH11X_ENST00000373097.1_Silent_p.I404I|PCDH11X_ENST00000361655.2_Silent_p.I404I|PCDH11X_ENST00000361724.1_Silent_p.I404I|PCDH11X_ENST00000373088.1_Silent_p.I404I|PCDH11X_ENST00000298274.8_Silent_p.I404I|PCDH11X_ENST00000406881.1_Silent_p.I404I|PCDH11X_ENST00000504220.1_Silent_p.I404I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	404	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCATGAAATCCCTTTCAGAT	0.413000													4	22					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571480	71571480	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:71571480C>T	ENST00000338482.5	+	3	1243	c.900C>T	c.(898-900)ccC>ccT	p.P300P	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.P300P|CHST4_ENST00000572450.1_Silent_p.P300P|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	300					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AATTCTTGCCCCATCTTCAGA	0.557000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	14					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220363796	220363796	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:220363796C>T	ENST00000358951.2	-	15	1670	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	518					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGATAAGTCTGTGGCTGCC	0.408000													30	58					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399826	46399826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46399826G>A	ENST00000292301.4	+	2	1293	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CCR2_ENST00000400888.2_Missense_Mutation_p.E270K|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.E270K	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	270					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACCTTCCAGGAATTCTTCGG	0.473000													41	93					0	0	1	0	0
CNFN	84518	broad.mit.edu	37	19	42891524	42891524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42891524G>A	ENST00000222032.5	-	3	266	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CNFN_ENST00000597255.1_Missense_Mutation_p.R73C	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	73					keratinization	cornified envelope|cytoplasm				lung(1)|prostate(1)	2		Prostate(69;0.00899)				ATGCCGGTGCGGATGGAGTGC	0.716000													6	2					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571383	44571383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:44571383C>T	ENST00000289547.4	-	10	2663	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R	NPC1L1_ENST00000381160.3_Missense_Mutation_p.G870R|NPC1L1_ENST00000546276.1_Intron	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	870					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGTCCAGTCCCACGCTGATG	0.622000													7	5					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202687588	202687588	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:202687588C>T	ENST00000450471.2	+	5	591	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	CDK15_ENST00000374598.4_Missense_Mutation_p.H169Y|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.H118Y|CDK15_ENST00000410091.3_Missense_Mutation_p.H118Y|CDK15_ENST00000434439.1_Missense_Mutation_p.H169Y	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	169	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGACATAATCCACACCAAAGA	0.343000													20	102					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789580	248789580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248789580G>A	ENST00000330803.2	-	1	911	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGATGAGAGGATTAAGCATG	0.483000													8	50					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374415	81374415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:81374415C>T	ENST00000222390.5	-	6	873	c.647G>A	c.(646-648)gGg>gAg	p.G216E	HGF_ENST00000444829.2_Missense_Mutation_p.G216E|HGF_ENST00000457544.2_Missense_Mutation_p.G211E|HGF_ENST00000453411.1_Missense_Mutation_p.G211E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	216	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATAACTCTCCCCATTGCAGGT	0.413000													7	29					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121474942	121474942	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:121474942G>T	ENST00000260197.7	+	33	4689	c.4560G>T	c.(4558-4560)caG>caT	p.Q1520H	SORL1_ENST00000525532.1_Missense_Mutation_p.Q464H|SORL1_ENST00000534286.1_Missense_Mutation_p.Q430H|SORL1_ENST00000527934.1_Missense_Mutation_p.Q135H|SORL1_ENST00000532694.1_Missense_Mutation_p.Q366H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1520	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGAGTTCCAGTGCGAGGACG	0.602000													51	49					5.12918e-33	5.22629e-33	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178941890	178941890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:178941890G>A	ENST00000263967.3	+	15	2366	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	737					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			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)			GTTTTTAGTTGAGCAAATGAG	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			24	40					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172348182	172348182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:172348182G>A	ENST00000358155.4	+	18	2094	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	DNM3_ENST00000367731.1_Missense_Mutation_p.A636T|DNM3_ENST00000355305.5_Missense_Mutation_p.A646T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	646					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATGGACAAGCAGAAAACTT	0.388000													11	20					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50515328	50515328	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50515328C>T	ENST00000267842.5	+	5	1371	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	SLC27A2_ENST00000544960.1_Missense_Mutation_p.A145V|SLC27A2_ENST00000380902.4_Missense_Mutation_p.A327V	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	380					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAGTTGGTGCTGTTGGAAGA	0.373000													19	44					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288614	74288614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:74288614G>A	ENST00000262765.5	-	4	1875	c.1696C>T	c.(1696-1698)Caa>Taa	p.Q566*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	566	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTCCAGGTTGGACCAAACCA	0.532000													38	53					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103432939	103432939	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:103432939T>A	ENST00000493442.1	+	5	1114	c.948T>A	c.(946-948)agT>agA	p.S316R	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	316	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGCACACAGTGACAGCAACC	0.463000													30	91					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38678044	38678044	+	Missense_Mutation	SNP	C	C	T	rs140200190		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:38678044C>T	ENST00000379931.3	+	3	1661	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	TACC1_ENST00000317827.4_Missense_Mutation_p.P428S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.P233S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.P233S|TACC1_ENST00000443286.2_Missense_Mutation_p.P444S|TACC1_ENST00000520340.1_Missense_Mutation_p.P392S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.P233S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P383S			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	428	SPAZ 2.			P -> H (in Ref. 6; AAH41391).	cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATCCATGGATCCCTTTAAACC	0.478000													81	173					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80504233	80504233	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:80504233G>A	ENST00000265080.4	+	22	3199	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I	CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1044	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTTACATTATGAAAACCAGCC	0.408000													7	23					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740506	62740506	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62740506G>A	ENST00000371153.4	-	3	648	c.270C>T	c.(268-270)aaC>aaT	p.N90N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	90										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGGGAGACCAGTTTTGGAGGG	0.612000													60	53					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534422	84534422	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:84534422C>T	ENST00000527857.1	+	0	4444					NR_026851.1																						CAGAGCCTTTCCAGGGCTATC	0.498000													11	20					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523042	43523042	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43523042C>T	ENST00000401740.1	-	3	692	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG11_ENST00000320078.7_Missense_Mutation_p.E197K|PSG11_ENST00000403486.1_Missense_Mutation_p.E75K|PSG11_ENST00000306322.7_Missense_Mutation_p.E75K|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	197	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.498000													149	60					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51297694	51297694	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51297694C>T	ENST00000266037.9	+	23	2315	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	764						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F764F(1)|p.F753F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAACTTTTCCAGTCCATCC	0.473000													7	20					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65099753	65099753	+	Silent	SNP	C	C	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:65099753C>G	ENST00000371073.2	+	7	816	c.816C>G	c.(814-816)acC>acG	p.T272T	CACHD1_ENST00000290039.5_Silent_p.T221T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	272	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGCAGATACCGTCCGGACTT	0.398000													7	45					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653716	71653716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71653716C>T	ENST00000409544.1	+	24	5347	c.4717C>T	c.(4717-4719)Cct>Tct	p.P1573S	ZNF638_ENST00000264447.4_Missense_Mutation_p.P1573S|ZNF638_ENST00000409407.1_Missense_Mutation_p.P513S|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1573					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAAAATGTTCCTTTCTCTGA	0.393000													19	31					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237851	56237851	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56237851G>A	ENST00000312240.2	-	1	163	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATCATGCCGATATTGCCCA	0.438000													18	40					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568713	46568713	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:46568713G>A	ENST00000458649.2	-	4	746	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	AMBRA1_ENST00000534300.1_Missense_Mutation_p.L110F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.L110F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.L110F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.L110F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.L110F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.L110F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	110					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAGCAATAAGGCCTGAGATG	0.433000													39	83					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279649	1279649	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:1279649G>A	ENST00000430512.2	-	0	202				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				TATCGGTCGCGGACTCTCAGG	0.701000													7	37					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104188917	104188917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:104188917C>T	ENST00000374855.4	-	6	668	c.544G>A	c.(544-546)Gga>Aga	p.G182R	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	182					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGTACCAGTCCATTCTAAAAA	0.393000													27	63					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234018	190234018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:190234018G>A	ENST00000367462.3	-	4	826	c.595C>T	c.(595-597)Caa>Taa	p.Q199*	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Nonsense_Mutation_p.Q97*	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		199						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATGCAATTTGAATGTGGTGA	0.418000													12	30					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536351	27536351	+	RNA	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:27536351G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GGCTTTTGCAGGGGTGGAGGC	0.463000													5	12					0.0215528	0.0216268	1	1	0
SP140L	93349	broad.mit.edu	37	2	231256845	231256845	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:231256845C>T	ENST00000243810.6	+	12	1008	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SP140L_ENST00000444636.1_Silent_p.F336F|SP140L_ENST00000396563.4_Silent_p.F301F|SP140L_ENST00000415673.2_Silent_p.F336F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	336	SAND.					nucleus	DNA binding|metal ion binding	p.F336F(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAAATGGTTCACCCCCATGG	0.527000													37	54					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338243	28338243	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:28338243G>A	ENST00000284987.5	-	1	589	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	156					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.F156F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTTGACCGCGAAGAAGCCGT	0.662000													16	19					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64416264	64416264	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:64416264G>A	ENST00000265459.6	-	16	3686	c.3225C>T	c.(3223-3225)ctC>ctT	p.L1075L	NRXN2_ENST00000377551.1_Silent_p.L1075L|NRXN2_ENST00000377559.3_Silent_p.L1035L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.L1068L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1075	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGGTCTGGGAGACGTCCGT	0.632000													44	51					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934865	119934865	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119934865C>T	ENST00000361035.4	+	7	1226	c.943C>T	c.(943-945)Cca>Tca	p.P315S	HAO2_ENST00000325945.3_Missense_Mutation_p.P302S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	302	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCTTGGGAGACCAATCCTATG	0.493000													9	42					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645892	70645892	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:70645892C>T	ENST00000298596.6	+	3	2423	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.T670T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.T780T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	780						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GATCTCTGACCGAGTACAACA	0.468000													14	43					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420676	37420676	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37420676C>T	ENST00000397225.2	+	2	1335	c.420C>T	c.(418-420)ctC>ctT	p.L140L	MPST_ENST00000404802.3_Silent_p.L140L|MPST_ENST00000404393.1_Silent_p.L140L|MPST_ENST00000401419.3_Silent_p.L140L|MPST_ENST00000341116.3_Silent_p.L140L|MPST_ENST00000397129.1_Silent_p.L160L|MPST_ENST00000429360.2_Silent_p.L140L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	140	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GCCAGAACCTCCCGCTCAGCT	0.667000													12	2					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586505	169586505	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169586505T>C	ENST00000263686.6	-	3	279	c.242A>G	c.(241-243)aAg>aGg	p.K81R	SELP_ENST00000367792.2_Missense_Mutation_p.K81R|SELP_ENST00000367788.2_Missense_Mutation_p.K81R|SELP_ENST00000367791.2_Missense_Mutation_p.K81R|SELP_ENST00000458599.2_Missense_Mutation_p.K81R|SELP_ENST00000367786.2_Missense_Mutation_p.K81R|SELP_ENST00000367793.2_Missense_Mutation_p.K81R|SELP_ENST00000367794.2_Missense_Mutation_p.K81R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	81	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGTAGGACCTTATTGAGGTA	0.428000													32	99					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653729	3653729	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3653729C>A	ENST00000263087.4	-	16	2039	c.1941G>T	c.(1939-1941)atG>atT	p.M647I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	647					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCCATGGACATGCCGAAGT	0.632000													9	40					0.000274275	0.000275758	1	1	0
MYBL1	4603	broad.mit.edu	37	8	67485599	67485599	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:67485599C>T	ENST00000522677.3	-	11	2023	c.1613_splice	c.e11+1	p.G538_splice	MYBL1_ENST00000524176.2_Splice_Site_p.G538_splice|MYBL1_ENST00000517885.1_Splice_Site_p.G196_splice	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	538	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ACCTACTTACCCTACATTTTC	0.343000													38	89					0	0	1	0	0
CRCP	27297	broad.mit.edu	37	7	65579828	65579828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:65579828G>A	ENST00000431089.2	+	1	16	c.13G>A	c.(13-15)Gat>Aat	p.D5N	AC068533.7_ENST00000450043.1_Intron|CRCP_ENST00000395326.3_5'UTR|CRCP_ENST00000398684.2_5'UTR	NM_001142414.1	NP_001135886.1	O75575	RPC9_HUMAN	CGRP receptor component	0					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding			cervix(1)|kidney(1)|lung(4)	6						GCAGCGCGGCGATCCCGGCGA	0.677000													8	30					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:35461197G>A	ENST00000378880.2	-	8	1523	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453000													35	117					0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702438	25702438	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:25702438G>A	ENST00000282881.6	-	2	218	c.69C>T	c.(67-69)tcC>tcT	p.S23S	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Silent_p.S44S|IFLTD1_ENST00000458174.2_Silent_p.S44S|IFLTD1_ENST00000445693.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	23						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					ACATCTTTGGGGAAAAATGTA	0.338000													8	35					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817322	69817322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69817322C>T	ENST00000251566.4	-	1	187	c.157G>A	c.(157-159)Gta>Ata	p.V53I		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	53						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATACTGTTACCTCATGGCCT	0.463000													29	46					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147238	52147238	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52147238G>A	ENST00000360844.6	-	5	847	c.806C>T	c.(805-807)tCc>tTc	p.S269F	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	269	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGAACAGGGACTGGCCCTC	0.612000													11	26					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990378	89990378	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89990378C>T	ENST00000405460.2	+	33	7901	c.7805C>T	c.(7804-7806)cCc>cTc	p.P2602L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2602					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGGAGCAGCCCCAAACCTTG	0.468000													101	144					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6533648	6533648	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:6533648C>T	ENST00000263125.5	-	8	886	c.787G>A	c.(787-789)Gat>Aat	p.D263N	PRKCQ_ENST00000397176.2_Missense_Mutation_p.D263N|PRKCQ_ENST00000539722.1_Missense_Mutation_p.D138N	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	263					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACTCACCATCACACTTGAGT	0.572000													22	25					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123921207	123921207	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123921207C>T	ENST00000373855.1	+	31	5099	c.4839C>T	c.(4837-4839)ctC>ctT	p.L1613L	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373844.1_Silent_p.L58L|CNTRL_ENST00000238341.5_Silent_p.L1613L|CNTRL_ENST00000373850.1_Silent_p.L1061L			Q7Z7A1	CNTRL_HUMAN	centriolin	1613					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGCATCTACTCCAAGGAAGCA	0.473000													19	96					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328650	48328650	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48328650G>A	ENST00000319988.1	+	1	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACAACGATGTGAAAAATGCCA	0.453000													31	50					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37186985	37186985	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:37186985C>T	ENST00000262879.6	+	23	3704	c.3420C>T	c.(3418-3420)tcC>tcT	p.S1140S	RALGAPB_ENST00000397038.1_Silent_p.S918S|RALGAPB_ENST00000397040.1_Silent_p.S1140S|RALGAPB_ENST00000397042.3_Silent_p.S1136S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1140					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CACTTGATTCCACGATACCTG	0.383000													45	105					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570559	20570559	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:20570559C>T	ENST00000329697.6	-	3	556	c.388_splice	c.e3+1	p.G130_splice	ACSM2B_ENST00000414188.2_Splice_Site_p.G130_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.G130_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.G130_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.G51_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	130					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.G130C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTACCAACCTGCTCGAATG	0.562000													11	19					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732465	138732465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:138732465G>A	ENST00000242351.5	-	13	2900	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P984S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	862	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCGAACTGTGGAGGAGGGCTC	0.418000													19	71					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532462	84532462	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:84532462G>A	ENST00000527857.1	+	0	2484					NR_026851.1																						CATCTGTCAGGGAATGACTCA	0.438000													10	43					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800690	93800690	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93800690C>T	ENST00000315765.9	+	5	845	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	279	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCGGAAACTTCCCGGAGCCTG	0.468000													56	88					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310956	124310956	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:124310956A>C	ENST00000328064.2	-	1	98	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAACTGTGTCACGAAGGAGGA	0.507000													19	18					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240870	58240870	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:58240870T>G	ENST00000377918.3	+	3	2726	c.2700T>G	c.(2698-2700)agT>agG	p.S900R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	900					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGCTGACAGTGACCAAGACA	0.463000													25	52					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30986400	30986400	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:30986400C>T	ENST00000435645.1	+	0	390																											CTGCTGCTTCCTGTGGGTAGG	0.522000													3	19					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640235	7640235	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7640235G>A	ENST00000359156.4	-	8	1972	c.1770C>T	c.(1768-1770)acC>acT	p.T590T	CD163_ENST00000432237.2_Silent_p.T590T|CD163_ENST00000396620.3_Silent_p.T623T|CD163_ENST00000541972.1_Silent_p.T578T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	590	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACGGGGTCTTGCCAT	0.512000													34	58					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273315	125273315	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125273315C>T	ENST00000335302.5	+	1	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGTCACTGTCCCTAAGATGCT	0.448000													44	65					0	0	1	0	0
NEURL1	9148	broad.mit.edu	37	10	105350125	105350125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:105350125C>T	ENST00000369780.4	+	6	2130	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.S557F	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		574					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TACCGCAGCTCCTAGCCCGTT	0.632000													5	26					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748938	30748938	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:30748938C>T	ENST00000262518.4	+	34	7962	c.7577C>T	c.(7576-7578)cCt>cTt	p.P2526L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2368L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2464L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2526	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTTCCTCTCCTCTCTTGCTT	0.587000													41	58					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29851524	29851524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:29851524C>T	ENST00000357402.5	+	8	1073	c.935C>T	c.(934-936)cCa>cTa	p.P312L	MVP_ENST00000395353.1_Missense_Mutation_p.P312L|MVP_ENST00000452209.2_Silent_p.A126A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	312					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TTCCTCCAGCCAGGAGAGCAG	0.602000													5	28					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065415	35065415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35065415C>T	ENST00000382002.5	-	10	2071	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PRLR_ENST00000342362.5_Missense_Mutation_p.V448M|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.V448M|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_3'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	549					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCCCGGACACCTTGGCATAC	0.498000													30	40					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121140380	121140380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121140380C>T	ENST00000392870.2	+	3	531	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	68	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.R68W(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCTGCTTTTCCGGCAGTTTTG	0.517000													39	66					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620957	25620957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25620957G>A	ENST00000398215.2	+	3	298	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	43	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAACCTGAAGGAAACTGGCGT	0.552000													31	16					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394658	233394658	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:233394658G>A	ENST00000258229.8	-	5	1184	c.950C>T	c.(949-951)aCc>aTc	p.T317I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	317						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCCACGATGGTGTCACATTG	0.587000													24	100					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923341	159923341	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159923341A>G	ENST00000368093.3	-	2	265	c.149T>C	c.(148-150)gTt>gCt	p.V50A	SLAMF9_ENST00000368092.3_Missense_Mutation_p.V50A	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	50						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCTCAACCTCTTCATC	0.532000													18	57					0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538897	23538897	+	Missense_Mutation	SNP	C	C	T	rs150251660		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:23538897C>T	ENST00000380871.4	-	2	579	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NKX3-1_ENST00000523261.1_Missense_Mutation_p.R106Q	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	181					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGCTGCTTTCGCTTAGTCTT	0.582000													60	127					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495968	102495968	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:102495968C>T	ENST00000360184.4	+	49	9725	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3187					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAACCTGTTCCACGAGAAGC	0.562000													9	42					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801775	67801775	+	Silent	SNP	G	G	C	rs143472326	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:67801775G>C	ENST00000544246.1	-	2	1489	c.798C>G	c.(796-798)ccC>ccG	p.P266P	PCDH9_ENST00000377865.2_Silent_p.P266P|PCDH9_ENST00000377861.3_Silent_p.P266P|PCDH9_ENST00000328454.5_Silent_p.P266P|PCDH9_ENST00000456367.1_Silent_p.P266P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	266	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P266P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTACCTACGGGAGCATTCT	0.493000													19	71					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542844	55542844	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55542844C>T	ENST00000220676.1	+	4	6550	c.6402C>T	c.(6400-6402)ttC>ttT	p.F2134F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2134					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATCTTTTCATTTGGGAAG	0.318000													17	30					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526965	234526965	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234526965G>A	ENST00000373450.4	+	1	675	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGACTTTCAAGGAGAGAGTAC	0.438000													113	149					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167182	167167182	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:167167182C>T	ENST00000476257.1	-	8	1271	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E325K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E325K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E325K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	325					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACATACACTTCAGATGAATCT	0.313000													9	22					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532675	100532675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100532675C>T	ENST00000372907.3	-	9	879	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TAF7L_ENST00000324762.6_Missense_Mutation_p.E204K|TAF7L_ENST00000356784.1_Missense_Mutation_p.E204K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E204K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	290					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTTCTATTTCCTTGGTTCCA	0.468000													82	22					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423091	47423091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47423091C>T	ENST00000404338.3	+	1	1159	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	387	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGAAGAGACCCCATGGGATGC	0.443000													20	80					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43492290	43492290	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:43492290G>A	ENST00000282041.5	-	22	3982	c.3948C>T	c.(3946-3948)ttC>ttT	p.F1316F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1316					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATACAGAAGGAAGAACTTCT	0.527000													9	47					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754644	167754644	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:167754644G>A	ENST00000239587.5	+	3	1344	c.1256G>A	c.(1255-1257)gGt>gAt	p.G419D		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	419	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TACTTAAATGGTCTAAGAAAT	0.443000													32	21					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592929	11592929	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:11592929G>A	ENST00000262442.3	+	20	3858	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1264K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1264	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCACATCGAGATCCAGCA	0.493000													14	80					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601666	38601666	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38601666C>T	ENST00000413689.1	-	23	4410	c.4217G>A	c.(4216-4218)gGg>gAg	p.G1406E	SCN5A_ENST00000451551.2_Missense_Mutation_p.G1352E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1405E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1406E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1405E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1352E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1352E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1406E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1405E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1406E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1406			G -> R (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTACCCGGCCCCCACGTTGTC	0.527000													9	11					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22262479	22262479	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:22262479C>T	ENST00000263026.5	+	6	928	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	152	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGAAGAAGCTCTCCAACTT	0.592000													26	116					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86257385	86257385	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:86257385C>T	ENST00000263857.6	-	31	5091	c.4713G>A	c.(4711-4713)aaG>aaA	p.K1571K	POLR1A_ENST00000409681.1_Silent_p.K1510K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1571					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTCTCGTTCTTATTGTTGG	0.502000													39	66					0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23562899	23562899	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrY:23562899C>T	ENST00000444169.1	-	0	99					NR_001574.2																						TGGTTCGATCCTTTATCAAAA	0.338000													9	7					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073661	48073661	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:48073661C>T	ENST00000264316.4	-	14	1473	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	TXK_ENST00000507351.1_Missense_Mutation_p.G118E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	463	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGCATTTTTCCTTCTGTAAA	0.383000													29	51					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48537570	48537570	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:48537570G>A	ENST00000293255.2	-	5	528	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	133	EF-hand 3.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCTCTGCATGGCCTGCTGTAG	0.517000													8	30					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431353	140431353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140431353G>A	ENST00000306549.3	+	1	375	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		100	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCAAAGCCGACCCTTGTGT	0.522000													49	66					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45294229	45294229	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:45294229G>A	ENST00000447098.2	-	12	1550	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PTCH2_ENST00000372192.3_Silent_p.F513F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	513	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGCCATGAGGAAGGCGGCCA	0.657000									Basal Cell Nevus syndrome				7	19					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704381	69704381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:69704381C>T	ENST00000409014.1	+	10	1664	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.S336F|EXD2_ENST00000409675.1_Missense_Mutation_p.S336F|EXD2_ENST00000409242.1_Missense_Mutation_p.S336F|EXD2_ENST00000409018.3_Missense_Mutation_p.S461F|EXD2_ENST00000449989.1_Missense_Mutation_p.S336F|EXD2_ENST00000312994.5_Missense_Mutation_p.S461F	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	336					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTCTGCACCTCCTGCCATGCC	0.567000													14	14					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246961	97246961	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:97246961C>T	ENST00000229955.3	-	2	992	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR63_ENST00000417980.1_Missense_Mutation_p.G216E	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCGGGGTTTCCTACGGCTAA	0.463000													43	32					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438652	85438652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:85438652C>T	ENST00000338602.2	+	7	735	c.505C>T	c.(505-507)Cct>Tct	p.P169S	SLC28A1_ENST00000537703.1_Intron|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Intron|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000286749.3_Intron|SLC28A1_ENST00000538177.1_Intron	NM_201651.1	NP_964014.1	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	0					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGTACCTCCCtcagatcac	0.557000													17	33					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38029373	38029373	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38029373C>T	ENST00000377940.3	+	5	775	c.636C>T	c.(634-636)atC>atT	p.I212I	ZPBP2_ENST00000348931.4_Silent_p.I234I|ZPBP2_ENST00000584588.1_Silent_p.I161I	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	234					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCATAATATCCTCCAGGTGA	0.428000													8	29					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642587	104642587	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:104642587G>A	ENST00000315264.7	+	11	3423	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G	KIF26A_ENST00000423312.2_Silent_p.G1154G			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1154					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTTCCCTGGGGGATGGAAGCT	0.711000													4	9					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672311	61672311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61672311G>A	ENST00000394836.2	-	6	858	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S208F	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	234							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGTGGGGGATTCCCTCCA	0.632000													21	40					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87079386	87079386	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87079386T>C	ENST00000265723.4	-	8	842	c.731A>G	c.(730-732)aAa>aGa	p.K244R	ABCB4_ENST00000453593.1_Missense_Mutation_p.K244R|ABCB4_ENST00000358400.3_Missense_Mutation_p.K244R|ABCB4_ENST00000359206.3_Missense_Mutation_p.K244R|ABCB4_ENST00000545634.1_Missense_Mutation_p.K244R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	244	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGCTAGTTCTTTGTCACTAAA	0.478000													17	58					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974845	29974845	+	RNA	SNP	G	G	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29974845G>C	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							AGAGCGAGGCGGGTGAGTGAC	0.667000													3	12					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238193	34238193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34238193G>A	ENST00000373381.4	-	13	1999	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	CSMD2_ENST00000338325.1_Missense_Mutation_p.S216L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	568	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTCTTAGCCGACCATTGGTT	0.577000													20	87					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32800149	32800149	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32800149G>A	ENST00000374897.2	-	7	1364	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374899.4_Silent_p.S411S|TAP2_ENST00000452392.2_Silent_p.S411S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	411	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGATCATAAAGGAAAGCAGGC	0.567000													15	50					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114842	86114842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:86114842C>T	ENST00000383699.3	+	9	1685	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	CADM2_ENST00000405615.2_Missense_Mutation_p.S386F|CADM2_ENST00000407528.2_Missense_Mutation_p.S384F	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	384					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACGCTGTGTTCTATCTTTCTG	0.423000													14	36					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225742694	225742694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:225742694C>T	ENST00000366844.2	-	3	714	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ENAH_ENST00000284563.6_Missense_Mutation_p.G88D|ENAH_ENST00000366843.2_Missense_Mutation_p.G88D|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	88	WH1.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		AAAGTTGAGACCATACACCTG	0.453000													17	19					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154705	50154705	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:50154705C>T	ENST00000360565.3	+	7	1183	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	353					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCGGGTCTTCGTGGTGGGGA	0.751000													3	5					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147247	77147247	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:77147247G>A	ENST00000461745.1	+	2	1044	c.144G>A	c.(142-144)acG>acA	p.T48T	ROBO2_ENST00000332191.8_Silent_p.T48T|ROBO2_ENST00000487694.3_Silent_p.T64T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	48	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCGAGCCCACGACTCTGAACT	0.592000													13	14					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761908	160761908	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:160761908G>A	ENST00000274547.2	-	8	900	c.683C>T	c.(682-684)tCc>tTc	p.S228F	GABRB2_ENST00000393959.1_Missense_Mutation_p.S228F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S228F|GABRB2_ENST00000517547.1_Missense_Mutation_p.S68F|GABRB2_ENST00000517901.1_Missense_Mutation_p.S165F|GABRB2_ENST00000353437.6_Missense_Mutation_p.S228F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	228					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTGGGATAGGAACCTAGAAA	0.378000													16	34					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5489324	5489324	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:5489324C>T	ENST00000296564.7	+	19	6904	c.6682C>T	c.(6682-6684)Cca>Tca	p.P2228S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2228										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCCCAGCAATCCAGCAGAAAT	0.468000													12	25					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113017	234113017	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234113017C>T	ENST00000359570.5	+	28	3185	c.3185C>T	c.(3184-3186)cCc>cTc	p.1062_1062insL	INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insL|INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insL			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCGAGGGGCCCGGCAAGCAG	0.706000													7	28					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59405030	59405030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:59405030G>A	ENST00000301645.3	-	5	1234	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	366					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATCCTCCTTAGCTGTCCGGAT	0.393000									Neonatal Giant Cell Hepatitis				23	62					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258459	9258459	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:9258459C>T	ENST00000383440.2	+	8	5382	c.5125C>T	c.(5125-5127)Cct>Tct	p.P1709S	ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1732S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1709S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1732						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCAAATCCCTCAAAGAAT	0.343000													8	16					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48256213	48256213	+	Missense_Mutation	SNP	G	G	A	rs7506742		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:48256213G>A	ENST00000400384.2	+	6	2789	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.E374K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	585					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTTCTCCAAAGAAAGGTGGTG	0.687000													5	20					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916072	189916072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:189916072C>T	ENST00000374866.3	-	42	3179	c.2905G>A	c.(2905-2907)Ggg>Agg	p.G969R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	969					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGGTCCCCTTTGTCTCCT	0.562000													48	56					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5406803	5406803	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:5406803G>A	ENST00000341928.2	-	16	2662	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P	EPB41L3_ENST00000427684.2_Silent_p.P46P|EPB41L3_ENST00000540638.2_Silent_p.P593P|EPB41L3_ENST00000542146.1_Silent_p.P46P|EPB41L3_ENST00000544123.1_Silent_p.P605P|EPB41L3_ENST00000400111.3_Silent_p.P593P|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Silent_p.P774P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	774	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTCGATCATGGGGGCATCCT	0.542000													20	36					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204502	11204502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:11204502C>T	ENST00000337414.4	-	5	1999	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R408Q|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R173Q|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R185Q|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R173Q|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R201Q|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R376Q	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	376					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCTAGTAGTCGAGACTGATT	0.428000													63	34					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167995997	167995997	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:167995997G>A	ENST00000239231.6	-	2	351	c.35C>T	c.(34-36)cCa>cTa	p.P12L		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	12					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GCCAAACCATGGGAAAGCTAT	0.323000													22	46					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100214787	100214787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:100214787C>T	ENST00000354410.5	+	6	1215	c.586C>T	c.(586-588)Cct>Tct	p.P196S	MEF2A_ENST00000557785.1_Missense_Mutation_p.P194S|MEF2A_ENST00000338042.6_Missense_Mutation_p.P194S|MEF2A_ENST00000557942.1_Missense_Mutation_p.P194S|MEF2A_ENST00000449277.2_Missense_Mutation_p.P126S|MEF2A_ENST00000558812.1_Missense_Mutation_p.P126S|MEF2A_ENST00000453228.2_Missense_Mutation_p.P194S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	196					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.P196S(2)|p.P194S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCTGGAGCTCCTCAGAGACC	0.433000													50	117					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76800037	76800037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:76800037G>A	ENST00000312010.6	-	16	2564	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	USP36_ENST00000542802.2_Missense_Mutation_p.S747L|USP36_ENST00000449938.2_Missense_Mutation_p.S447L	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	747					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGGCTGGATGATTGGGGAGC	0.612000													42	34					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647525	19647525	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19647525C>T	ENST00000284885.3	-	24	2926	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	965	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGACAAGAATCTATTCCTCCT	0.353000													54	86					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27434297	27434297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:27434297G>A	ENST00000263980.3	-	4	1699	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	SLC9A1_ENST00000374086.3_Missense_Mutation_p.S375F|SLC9A1_ENST00000545949.1_Missense_Mutation_p.S36F	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	375					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGTGGGACTTGTGGGA	0.602000													7	17					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232348	125232348	+	RNA	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:125232348G>A	ENST00000439075.1	-	0	2397					NR_026876.1																						CCCTTAAAATGGAAAGAATCA	0.433000													2	1					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949861	70949861	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70949861G>A	ENST00000334414.6	-	19	4826	c.4782C>T	c.(4780-4782)atC>atT	p.I1594I	PTPRB_ENST00000550857.1_Silent_p.I1286I|PTPRB_ENST00000538708.1_Silent_p.I1286I|PTPRB_ENST00000261266.5_Silent_p.I1376I|PTPRB_ENST00000451516.2_Silent_p.I1286I|PTPRB_ENST00000550358.1_Silent_p.I1506I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1376					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATCAGGAGGGATCCAAGAAC	0.453000													13	25					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2296551	2296551	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:2296551G>A	ENST00000222990.3	-	10	1284	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	414					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGGCGCGGAGGATGTGGGAGG	0.632000													5	43					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366917	248366917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366917C>T	ENST00000456743.1	+	1	586	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413000													78	119					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976359	131976359	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:131976359C>T	ENST00000356920.5	+	1	478	c.384C>T	c.(382-384)ttC>ttT	p.F128F	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.F128F|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	128							ATP binding										ACAGCGCCTTCATGGAGCCCA	0.597000													14	85					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26087697	26087697	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:26087697T>A	ENST00000357618.5	+	1	151	c.29T>A	c.(28-30)cTc>cAc	p.L10H	HFE_ENST00000470149.1_Missense_Mutation_p.L10H|HFE_ENST00000353147.5_Missense_Mutation_p.L10H|HFE_ENST00000352392.4_Missense_Mutation_p.L10H|HFE_ENST00000397022.3_Missense_Mutation_p.L10H|HFE_ENST00000488199.1_Missense_Mutation_p.L10H|HFE_ENST00000349999.4_Missense_Mutation_p.L10H|HFE_ENST00000336625.8_Missense_Mutation_p.L10H|HFE_ENST00000309234.6_Missense_Mutation_p.L10H|HFE_ENST00000461397.1_Missense_Mutation_p.L10H|HFE_ENST00000317896.7_Missense_Mutation_p.L10H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	10					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGCGCTTCTCCTCCTGATG	0.677000									Hemochromatosis				34	96					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83440957	83440957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:83440957G>A	ENST00000334574.8	-	7	1316	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S	FSD2_ENST00000541889.1_Missense_Mutation_p.P379S			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	379	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGGACCTGTGGATTTATGACT	0.512000													5	16					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11300507	11300507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:11300507G>A	ENST00000361445.4	-	11	1715	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	547					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGTGCATAAGGACCAGGGAC	0.602000													49	47					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814048	248814048	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248814048G>A	ENST00000344889.3	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATGAGAATGATCTTGACCA	0.532000													4	30					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195020	3195020	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3195020G>A	ENST00000323404.1	-	1	856	c.857C>T	c.(856-858)cCc>cTc	p.P286L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GTTCAGCATGGGATTGATGAC	0.463000													37	52					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11452338	11452338	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:11452338C>T	ENST00000423059.3	-	18	3878	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1209	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGGTTCTTTCTCAACAGCAT	0.418000										HNSCC(18;0.044)			7	31					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51910841	51910841	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:51910841G>A	ENST00000371117.3	-	24	2828	c.2553C>T	c.(2551-2553)tcC>tcT	p.S851S	PKHD1_ENST00000340994.4_Silent_p.S851S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	851					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTGGACCAGGACAAGGTCC	0.453000													19	34					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777099	137777099	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137777099A>T	ENST00000350339.2	+	4	216	c.202A>T	c.(202-204)Aag>Tag	p.K68*	FCN2_ENST00000291744.6_Nonsense_Mutation_p.K106*	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	106	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCGTACCTGCAAGGACCTGCT	0.667000													23	31					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591572	46591572	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:46591572G>A	ENST00000398637.5	-	16	1987	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLC38A1_ENST00000546893.1_Silent_p.F431F|SLC38A1_ENST00000552197.1_Silent_p.F431F|SLC38A1_ENST00000549049.1_Silent_p.F431F|SLC38A1_ENST00000439706.1_Silent_p.F431F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	431					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAAGAATGAAAATAAGCA	0.353000													26	34					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067187	18067187	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:18067187C>T	ENST00000506618.2	-	1	299	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	73					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGGCATTAATCATGATCAAAA	0.488000													106	159					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45007332	45007332	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:45007332C>T	ENST00000258787.7	-	14	1790	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	552	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAGTGGGGTCCGTGCTGCAG	0.632000													23	19					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627398	148627398	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148627398G>A	ENST00000506113.1	+	17	2087	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	ABLIM3_ENST00000504238.1_Silent_p.S424S|ABLIM3_ENST00000326685.7_Silent_p.S440S|ABLIM3_ENST00000356541.3_Silent_p.S424S|ABLIM3_ENST00000517451.1_Silent_p.S21S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.S535S|ABLIM3_ENST00000508983.1_Silent_p.S502S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	535					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCCGGTCGAGCTCCTATG	0.557000													30	40					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958913	54958913	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:54958913G>A	ENST00000273286.5	-	2	499	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.L37L|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	113						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGCTTTCCAGGGAAAGGAGT	0.473000													28	32					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13636087	13636087	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:13636087G>A	ENST00000361306.1	+	8	1274	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M339I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	339					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGAGAAAATGAAAGAGGGGC	0.448000													26	8					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397294	17397294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:17397294C>T	ENST00000394458.3	+	9	2057	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V	ANKLE1_ENST00000598347.1_Missense_Mutation_p.P522S|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000594072.1_Missense_Mutation_p.A557V|ANKLE1_ENST00000404085.1_Missense_Mutation_p.A590V	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	594						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGCACCGTGCCCTCCTTGTC	0.662000													5	14					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381528	81381528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:81381528C>T	ENST00000222390.5	-	5	759	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	HGF_ENST00000423064.2_Missense_Mutation_p.R178Q|HGF_ENST00000444829.2_Missense_Mutation_p.R178Q|HGF_ENST00000457544.2_Missense_Mutation_p.R173Q|HGF_ENST00000453411.1_Missense_Mutation_p.R173Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	178	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGAGGATTTCGACAGTAGTT	0.418000													5	48					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733284	106733284	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106733284C>T	ENST00000390610.2	-	0	270																											TCTTCAGGATCAAAACCTCCC	0.522000													45	134					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123243278	123243278	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123243278G>A	ENST00000358487.5	-	17	2507	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	FGFR2_ENST00000357555.5_Silent_p.S656S|FGFR2_ENST00000369056.1_Silent_p.S746S|FGFR2_ENST00000346997.2_Silent_p.S743S|FGFR2_ENST00000457416.2_Silent_p.S746S|FGFR2_ENST00000351936.6_Silent_p.S743S|FGFR2_ENST00000369059.1_Silent_p.S631S|FGFR2_ENST00000478859.1_Silent_p.S517S|FGFR2_ENST00000369060.4_Silent_p.S629S|FGFR2_ENST00000360144.3_Silent_p.S657S|FGFR2_ENST00000369061.4_Silent_p.S633S|FGFR2_ENST00000356226.4_Silent_p.S628S	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	745	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTGGTCTCTGGGAGGGCACTG	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				15	23					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474748	82474748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82474748G>A	ENST00000423517.2	-	13	14222	c.13885C>T	c.(13885-13887)Cag>Tag	p.Q4629*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q4629*|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4517	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACCTTCTGGAGTTCTGCT	0.443000													6	18					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139696712	139696712	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:139696712C>T	ENST00000303045.6	-	39	3414	c.2967_splice	c.e39-1	p.G990_splice	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.G990_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	990	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACGGAGTCCCTGGAGAAAT	0.537000										HNSCC(7;0.00092)			44	79					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262441	158262441	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158262441G>T	ENST00000368170.3	+	4	945	c.666G>T	c.(664-666)ttG>ttT	p.L222F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	222	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCAGCTGTTGCTGGTTTGTC	0.522000													12	49					9.05144e-12	9.15893e-12	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145393487	145393487	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:145393487C>T	ENST00000511217.1	+	4	974	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L308F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	308							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGAACACTCTCAACCGGAT	0.587000													62	134					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67020377	67020377	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:67020377C>T	ENST00000340001.4	-	17	2470	c.2259G>A	c.(2257-2259)ttG>ttA	p.L753L	ABCA9_ENST00000453985.2_Silent_p.L753L|ABCA9_ENST00000370732.2_Silent_p.L753L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	753					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)					TTGTCCTTTCCAAAGGCAAAA	0.358000													16	34					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399733	85399733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:85399733G>A	ENST00000258888.5	+	6	2537	c.2370G>A	c.(2368-2370)atG>atA	p.M790I		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	790					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.M790I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGAACCCATGGATATGGAAA	0.517000													42	59					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32143022	32143022	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:32143022A>G	ENST00000375250.5	-	5	1302	c.1061T>C	c.(1060-1062)tTa>tCa	p.L354S	ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.L354S|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.L354S	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	354					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACTGGTATATAAGGTATGCCC	0.388000													22	36					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10403297	10403297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:10403297C>T	ENST00000377086.1	+	34	3842	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	KIF1B_ENST00000263934.6_Nonsense_Mutation_p.Q1168*|KIF1B_ENST00000377081.1_Nonsense_Mutation_p.Q1214*			O60333	KIF1B_HUMAN	kinesin family member 1B	1214					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTCCGCCTCAGCCGTGCCG	0.453000													6	19					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156964947	156964947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:156964947G>A	ENST00000257527.4	-	4	382	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P104S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P102S|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	102					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTTTGAGGGTTACCACTT	0.443000													44	78					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463602	61463602	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:61463602G>A	ENST00000398019.2	+	5	764	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SERPINB7_ENST00000540675.1_Missense_Mutation_p.E130K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.E147K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.E147K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	147					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAAGTGGGTTGAAAATGAAAC	0.353000													11	33					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31429471	31429471	+	Missense_Mutation	SNP	C	C	T	rs150295058	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31429471C>T	ENST00000389202.2	+	21	2624	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	859					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R859C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGAAGCAGCCGCTGCAGTGT	0.557000													16	90					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460085	107460085	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:107460085C>T	ENST00000409382.3	-	2	959	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G117R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G117R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	117					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G117R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GATTTTCTCCCCACCTGGGAT	0.532000													27	110					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334851	142334851	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142334851C>T	ENST00000390394.3	+	0	351																											TGACCTTGTCCACTCTGACAG	0.547000													25	42					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745548	77745548	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:77745548C>T	ENST00000409088.3	-	3	1861	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.E484K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E483K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E483K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E484K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	483						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)		ACATAATACTCCTGTAAAGGG	0.473000													16	26					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38295481	38295481	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:38295481G>A	ENST00000553443.1	+	28	5056	c.5056G>A	c.(5056-5058)Gga>Aga	p.G1686R	TTC6_ENST00000267368.7_Missense_Mutation_p.G320R|TTC6_ENST00000382320.3_Missense_Mutation_p.G400R|TTC6_ENST00000476979.1_Missense_Mutation_p.G320R					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCCTATGAAGGAAGAGCTGT	0.363000													31	26					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031367	56031367	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56031367C>T	ENST00000309675.2	+	1	724	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAATGGCCTCCACCCAGAGC	0.557000													19	79					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976213	4976213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4976213G>A	ENST00000380371.1	-	1	730	c.731C>T	c.(730-732)tCa>tTa	p.S244L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.478000													32	110					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280633	162280633	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:162280633C>T	ENST00000389554.3	+	6	2261	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	TBR1_ENST00000410035.1_Silent_p.S361S|AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGCCCGTGTCCGAGAGTTCGT	0.632000													7	9					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989917	125989917	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:125989917A>T	ENST00000319286.5	+	3	1561	c.1407A>T	c.(1405-1407)aaA>aaT	p.K469N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AACCTTACAAATGTACCAGCT	0.458000										HNSCC(60;0.17)			50	116					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330611	25330611	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:25330611C>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TCATCCTCGTCGAACTGAGGT	0.468000													58	69					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674908	39674908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:39674908C>T	ENST00000254043.3	-	1	3757	c.172G>A	c.(172-174)Gga>Aga	p.G58R	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G58R	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	58	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCATATCCTCCTCCTGACCCT	0.602000													53	52					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:1041878C>T	ENST00000360803.4	+	3	311	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000545048.1_Missense_Mutation_p.P30S	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	77					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000													6	23					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42937402	42937402	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:42937402G>A	ENST00000426333.2	-	18	2028	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	EFTUD2_ENST00000592576.1_Silent_p.F567F|EFTUD2_ENST00000591382.1_Silent_p.F577F|EFTUD2_ENST00000402521.3_Silent_p.F542F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	577						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCAAGGGTCGGAAAATCTGAG	0.502000													35	27					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631189	11631189	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:11631189G>A	ENST00000262442.3	+	28	5832	c.5764G>A	c.(5764-5766)Gat>Aat	p.D1922N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1922N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1922	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGCTTTGATGAGTTTAA	0.488000													6	32					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942391	2942391	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:2942391A>T	ENST00000397461.1	+	10	1347	c.963A>T	c.(961-963)aaA>aaT	p.K321N	CNTN4_ENST00000397459.2_5'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.K102N|CNTN4_ENST00000427331.1_Missense_Mutation_p.K321N|CNTN4_ENST00000418658.1_Missense_Mutation_p.K321N|CNTN4_ENST00000448906.2_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	321	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGATTCAAAAAATAAATGATA	0.353000													28	54					0	0	1	0	0
HCG27	253018	broad.mit.edu	37	6	31170442	31170442	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:31170442G>T	ENST00000383331.4	+	2	417	c.417G>T	c.(415-417)agG>agT	p.R139S	HCG27_ENST00000415276.1_3'UTR																							CAGGGTTGAGGTTGGGGGCAT	0.612000													19	48					6.94344e-10	7.01548e-10	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963930	73963930	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73963930C>A	ENST00000373468.1	-	3	1113	c.462G>T	c.(460-462)aaG>aaT	p.K154N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.K154N			Q5QGS0	K2022_HUMAN	KIAA2022	154					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTACTGCATCCTTGGATTCCA	0.473000													42	13					6.21074e-16	6.30008e-16	1	1	0
CPLX3	594855	broad.mit.edu	37	15	75122642	75122642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75122642C>T	ENST00000395018.4	+	3	581	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	142						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGACAAGGCCCAGGCCACACT	0.612000													20	31					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38103401	38103401	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:38103401C>T	ENST00000290399.6	+	7	1412	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	SIM2_ENST00000430056.3_Missense_Mutation_p.H267Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	267	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GACCCTATACCATCACGTGCA	0.637000													19	42					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5307546	5307546	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:5307546G>A	ENST00000573584.1	-	7	1574	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	355					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GGTCAATCCTGGAATCCCAGG	0.378000													16	51					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176305269	176305269	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:176305269C>T	ENST00000329542.4	+	12	2168	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	UNC5A_ENST00000261961.3_Silent_p.L592L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	632					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAGCAGCTGGGGGGACA	0.647000													17	22					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111310	69111310	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:69111310G>A	ENST00000361055.4	-	10	768	c.714C>T	c.(712-714)acC>acT	p.T238T	UBA3_ENST00000415609.2_Silent_p.T197T|UBA3_ENST00000540295.1_Silent_p.T61T|UBA3_ENST00000349511.4_Silent_p.T224T	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	238					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAGATGCAATGGTGCACATGG	0.368000													33	70					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005027	187005027	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187005027G>A	ENST00000296795.2	+	4	2291	c.2187G>A	c.(2185-2187)agG>agA	p.R729R	TLR3_ENST00000504367.1_Silent_p.R452R	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	729					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGGGCTGGAGGATATCTTTTT	0.358000													28	114					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74907661	74907661	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:74907661C>T	ENST00000289575.5	+	10	1931	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SLCO2B1_ENST00000525650.1_Silent_p.Y368Y|SLCO2B1_ENST00000428359.2_Silent_p.Y490Y|SLCO2B1_ENST00000454962.2_Silent_p.Y285Y|SLCO2B1_ENST00000532236.1_Silent_p.Y396Y|SLCO2B1_ENST00000341411.4_Silent_p.Y285Y|SLCO2B1_ENST00000531756.1_Silent_p.Y257Y	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	512	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GTGTGGAATACATCACACCCT	0.627000													12	53					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103185765	103185765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103185765C>T	ENST00000428762.1	-	42	6488	c.6329G>A	c.(6328-6330)gGa>gAa	p.G2110E	RELN_ENST00000424685.2_Missense_Mutation_p.G2110E|RELN_ENST00000343529.5_Missense_Mutation_p.G2110E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2110					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGTAAAATCCCTGGTACCA	0.458000													8	32					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077499	179077499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:179077499G>A	ENST00000502732.1	-	12	3106	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	ABL2_ENST00000344730.3_Missense_Mutation_p.S850F|ABL2_ENST00000367623.4_Missense_Mutation_p.S947F|ABL2_ENST00000512653.1_Missense_Mutation_p.S953F|ABL2_ENST00000511413.1_Missense_Mutation_p.S865F|ABL2_ENST00000504405.1_Missense_Mutation_p.S829F|ABL2_ENST00000507173.1_Missense_Mutation_p.S844F|ABL2_ENST00000408940.3_Missense_Mutation_p.S932F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	968	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTCTCCAGAGGATGTGACCTG	0.537000			T	ETV6	AML								25	78					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175815	79175815	+	Missense_Mutation	SNP	G	G	A	rs148371115		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:79175815G>A	ENST00000554719.1	+	4	849	c.358G>A	c.(358-360)Gag>Aag	p.E120K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E120K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.E120K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGCCCCAAGAGAGGAAGGA	0.522000													10	95					0	0	1	0	0
UBE2G2	7327	broad.mit.edu	37	21	46197277	46197277	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:46197277G>A	ENST00000345496.2	-	4	451	c.181C>T	c.(181-183)Cca>Tca	p.P61S	UBE2G2_ENST00000330942.5_Missense_Mutation_p.P33S|UBE2G2_ENST00000477954.1_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	61					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		TAATCAAGTGGGAAACTCAGG	0.413000													16	62					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382666	23382666	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23382666C>T	ENST00000343070.2	+	6	1103	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SCNN1B_ENST00000307331.5_Silent_p.F354F|SCNN1B_ENST00000568085.1_Silent_p.F309F|SCNN1B_ENST00000568923.1_Silent_p.F282F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	309					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGTCCCCTTCCTTGCGTCCA	0.592000													21	27					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055907	154055907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:154055907G>A	ENST00000389740.2	-	4	1876	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	593						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTTTGGATCGATAGACTTCT	0.418000													41	88					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805667	102805667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:102805667C>T	ENST00000264257.2	+	3	316	c.190C>T	c.(190-192)Cca>Tca	p.P64S	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P64S|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	64	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TAGCAAAATCCCAGTGTCCAA	0.418000													10	26					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5924434	5924434	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:5924434G>A	ENST00000378156.4	-	28	4225	c.3960C>T	c.(3958-3960)ctC>ctT	p.L1320L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1320					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCACACGAGCCAGGAGG	0.642000													3	15					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130106	187130106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187130106C>T	ENST00000378802.4	+	9	1482	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	393					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CGCCTTTTTCCTTCTGTTCCT	0.428000													25	68					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139826	3139826	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3139826G>A	ENST00000252463.2	-	5	1531	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	ZSCAN10_ENST00000575108.1_Silent_p.L143L|ZSCAN10_ENST00000538082.2_Silent_p.L400L	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	482					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGGCCACCAGGTGCTCGCTG	0.736000													4	2					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33247113	33247113	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:33247113C>T	ENST00000374617.4	-	15	2129	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	591										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCTTCGCCTCCTTATGATGCT	0.637000													46	159					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39222572	39222572	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:39222572C>T	ENST00000333039.2	-	3	1154	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	344	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTTGGCCTGCCCGGGCACTGA	0.662000													31	30					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112901647	112901647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:112901647C>T	ENST00000161863.4	+	21	2986	c.2773C>T	c.(2773-2775)Ctt>Ttt	p.L925F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	925							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAGAATTTTCTTTCACAGGC	0.378000													28	44					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896073	43896073	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:43896073C>T	ENST00000389420.3	-	4	748	c.749G>A	c.(748-750)aGg>aAg	p.R250K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R250K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	250						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGTTTTTTCCTGGAATGTCT	0.323000													16	33					0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074388	46074388	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:46074388G>A	ENST00000391618.1	-	1	188	c.144C>T	c.(142-144)ccC>ccT	p.P48P	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	48	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CCCCACACAGGGGCCGGCACA	0.672000													15	20					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216873	21216873	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:21216873C>T	ENST00000380216.1	-	1	437	c.432G>A	c.(430-432)agG>agA	p.R144R		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	144					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			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAAAGTATTTCCTCACAGCCA	0.458000													108	81					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920811	30920811	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:30920811G>A	ENST00000462446.1	+	3	4127	c.4099G>A	c.(4099-4101)Gat>Aat	p.D1367N	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.D209N			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	491						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGATGCAGAGGATGAGGGTGG	0.552000													27	31					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126513	58126513	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:58126513G>A	ENST00000357377.3	-	1	29	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGCAGGATGAATTCACTCA	0.418000													52	72					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321559	56321559	+	Silent	SNP	G	G	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56321559G>T	ENST00000443188.1	-	5	1127	c.417C>A	c.(415-417)acC>acA	p.T139T	NLRP11_ENST00000360133.3_Silent_p.T139T|NLRP11_ENST00000589824.2_Silent_p.T139T|NLRP11_ENST00000592953.1_Silent_p.T40T|NLRP11_ENST00000589093.1_Silent_p.T139T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	139							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAATAGCTGGTAGAATCAT	0.368000													11	23					1.08611e-07	1.09629e-07	1	1	0
MPP6	51678	broad.mit.edu	37	7	24708140	24708140	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:24708140G>A	ENST00000396475.2	+	10	1274	c.975G>A	c.(973-975)caG>caA	p.Q325Q	MPP6_ENST00000409761.1_Silent_p.Q213Q|MPP6_ENST00000222644.4_Silent_p.Q325Q	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	325					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGAAATCCAGATATATGAGG	0.358000													15	15					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8562714	8562714	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8562714C>T	ENST00000423345.4	-	4	2030	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E503K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	552	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGTAGATCTCATCTGGGACC	0.507000													16	76					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99314848	99314848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:99314848C>T	ENST00000336374.2	-	6	475	c.473G>A	c.(472-474)aGa>aAa	p.R158K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	158					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCTCAGATTTCTCACCAACAC	0.502000													48	85					0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625118	10625118	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10625118G>A	ENST00000439028.3	-	2	695	c.570C>T	c.(568-570)gcC>gcT	p.A190A	S1PR5_ENST00000333430.4_Silent_p.A190A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	190						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CGTAGGCCTTGGCGTAGAGCG	0.672000													9	7					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708237	94708237	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94708237C>T	ENST00000304338.3	+	10	1243	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	363						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CACCCCAAATCCTAGAGCAGG	0.318000													13	18					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123044230	123044230	+	Missense_Mutation	SNP	G	G	A	rs151195921		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123044230G>A	ENST00000462833.1	-	8	3239	c.2027C>T	c.(2026-2028)gCt>gTt	p.A676V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A326V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A309V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	676					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGGCGCTCAGCCCCCCAGTG	0.587000													55	95					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862019	116862019	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:116862019T>G	ENST00000265437.5	+	15	1755	c.1541T>G	c.(1540-1542)tTc>tGc	p.F514C	ST7_ENST00000393449.1_Missense_Mutation_p.F509C|ST7_ENST00000393444.3_Missense_Mutation_p.F448C|ST7_ENST00000323984.3_Missense_Mutation_p.F514C|ST7_ENST00000422922.1_Missense_Mutation_p.F445C|ST7_ENST00000393447.4_Missense_Mutation_p.F471C|ST7_ENST00000432298.1_Missense_Mutation_p.F468C|ST7_ENST00000393443.1_Missense_Mutation_p.F436C|ST7_ENST00000393446.2_Missense_Mutation_p.F460C|ST7_ENST00000393451.3_Missense_Mutation_p.F491C	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	514						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GAGCTTCCCTTCTTTATTCTC	0.483000													19	63					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47442821	47442821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47442821C>T	ENST00000456754.2	+	2	82	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_5'UTR|TIMP1_ENST00000218388.4_Missense_Mutation_p.P3S|SYN1_ENST00000340666.4_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	3					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CACCATGGCCCCCTTTGAGCC	0.667000													27	11					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057765	158057765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:158057765G>A	ENST00000264428.4	+	5	712	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GLRB_ENST00000541722.1_Missense_Mutation_p.E148K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.E148K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	148					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGCAAATGAAAAAAGTGC	0.393000													18	96					0	0	1	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76681160	76681160	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:76681160C>T	ENST00000459742.1	+	0	58																											GAATAAAGTTCCTGCTGAAAA	0.463000													8	33					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921788	60921788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:60921788G>A	ENST00000252999.3	-	8	1207	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LAMA5_ENST00000370677.3_Nonsense_Mutation_p.Q381*|LAMA5_ENST00000370692.3_Nonsense_Mutation_p.Q381*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	381	Laminin EGF-like 2.				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)	TCCAGGCTCTGGCTGGCGCGG	0.662000													9	24					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75694309	75694309	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75694309G>A	ENST00000394947.3	-	10	1724	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	SIN3A_ENST00000360439.4_Silent_p.V470V|SIN3A_ENST00000394949.4_Silent_p.V470V	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	470	Interaction with REST (By similarity).|Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGCCTTTCGGACCTTATGGA	0.483000													14	31					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62545509	62545509	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:62545509C>T	ENST00000448257.2	+	4	483	c.282C>T	c.(280-282)atC>atT	p.I94I	CDK1_ENST00000395284.3_Silent_p.I94I|CDK1_ENST00000373809.2_Silent_p.I94I|CDK1_ENST00000316629.4_Silent_p.I94I			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	94	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TGGATTCTATCCCTCCTGGTC	0.343000													65	76					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153974234	153974234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:153974234C>T	ENST00000368559.3	-	36	5229	c.5158G>A	c.(5158-5160)Gac>Aac	p.D1720N	NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1720						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAACTCTGTCCACTCCCAGT	0.398000													84	106					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19485576	19485576	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:19485576G>A	ENST00000396229.2	+	12	2817	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	TMC5_ENST00000219821.5_Missense_Mutation_p.E444K|TMC5_ENST00000564959.1_Missense_Mutation_p.E373K|TMC5_ENST00000541464.1_Missense_Mutation_p.E638K|TMC5_ENST00000542583.2_Missense_Mutation_p.E690K|TMC5_ENST00000561503.1_Missense_Mutation_p.E331K|TMC5_ENST00000381414.4_Missense_Mutation_p.E690K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	690						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						GCCACGGCACGAAGTCTACGT	0.527000													23	93					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54095637	54095637	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54095637C>T	ENST00000502396.1	+	12	2876	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000274897.5_Silent_p.P413P			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	413						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCCCAGGACCCTTCAGTCATC	0.498000													55	179					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39424321	39424321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39424321G>A	ENST00000280481.7	+	9	6742	c.6526G>A	c.(6526-6528)Gac>Aac	p.D2176N	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2176	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGATGATGGACTTTGAAGA	0.453000													17	44					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	983033	983033	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:983033C>T	ENST00000379370.2	+	21	3647	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1199	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCAAATCCGTCCGCGCCA	0.617000													35	26					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963148	106963148	+	RNA	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106963148C>T	ENST00000390621.2	-	0	191																											GAAGGTGTATCCGGAAGCCTT	0.577000													17	61					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453000													39	141					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994250	139994250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:139994250C>T	ENST00000371589.4	+	6	906	c.833C>T	c.(832-834)tCc>tTc	p.S278F	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	278					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AAGCCTGTGTCCAGGTCCTTC	0.547000													41	45					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594748	50594748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50594748C>T	ENST00000374139.2	-	4	401	c.391G>A	c.(391-393)Gag>Aag	p.E131K	DRGX_ENST00000434016.1_Missense_Mutation_p.E136K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	136					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TCCAGCGCCTCCTTCTTACTC	0.642000													14	29					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926998	52926998	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:52926998C>T	ENST00000295213.4	+	3	618	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Silent_p.L82L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	82					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTTGCCTTGGCTGGAGGCTTC	0.483000													11	59					0	0	1	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254237	161254237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:161254237G>A	ENST00000504449.1	+	3	421	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	58	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGTTCCGGCGATTTCAGAAA	0.532000													10	16					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060468	16060468	+	Silent	SNP	C	C	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16060468C>T	ENST00000322107.1	+	1	651	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCCTCATCATCCTCTCCTATG	0.502000													38	168					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648980	28648980	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28648980G>A	ENST00000280904.6	-	15	2831	c.2388C>T	c.(2386-2388)tcC>tcT	p.S796S	DSC2_ENST00000251081.6_Silent_p.S796S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	796					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCCCCGGCAGGATTCCGAGG	0.567000													9	55					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56357780	56357780	+	Silent	SNP	G	G	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56357780G>A	ENST00000340482.3	-	2	371	c.195C>T	c.(193-195)tcC>tcT	p.S65S	MPO_ENST00000225275.3_Silent_p.S65S			P05164	PERM_HUMAN	myeloperoxidase	65					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCTCCTCCATGGAGCTCAGCA	0.647000													22	31					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905192	74905192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:74905192delC	ENST00000370891.2	+	22	2216	c.2200delC	c.(2200-2202)ctfs	p.P734fs	FPGT-TNNI3K_ENST00000370899.3_Frame_Shift_Del_p.P734fs|FPGT-TNNI3K_ENST00000557284.1_Frame_Shift_Del_p.P734fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.P633fs	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TTGGATGGCTCCTGAGGTGTT	0.473													27	33	---	---	---	---					
RP11-680B3.2	0	broad.mit.edu	37	3	148582959	148582960	+	RNA	INS	-	-	A	rs143382113		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:148582959_148582960insA	ENST00000488190.1	-	0	304																											TCTCCAGCTGGAAAAAAAAAAC	0.436													3	4	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													3	3	---	---	---	---					
ZDHHC13	54503	broad.mit.edu	37	11	19180492	19180493	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:19180492_19180493delTG	ENST00000446113.2	+	10	1134_1135	c.1013_1014delTG	c.(1012-1014)tfs	p.L338fs	ZDHHC13_ENST00000399351.3_Frame_Shift_Del_p.L208fs	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	338	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTTAGGTTCTTGGTTGGGTATA	0.272													2	4	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	170	---	---	---	---					
IGHV3-20	28445	broad.mit.edu	37	14	106667903	106667904	+	RNA	INS	-	-	T	rs148276173		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106667903_106667904insT	ENST00000390606.2	-	0	108																											CACAGAGACACCTGGTCAGAAA	0.520													29	55	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24946954	24946954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:24946954delG	ENST00000289968.6	-	18	1800	c.1731delC	c.(1729-1731)ccfs	p.P577fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.P499fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	577	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCTTCGGTTTGGGAGGACTAA	0.483													16	56	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24197828	24197828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:24197828delT	ENST00000379177.1	+	6	1014	c.587delT	c.(586-588)acfs	p.I196fs	ZFX_ENST00000338565.3_Frame_Shift_Del_p.I196fs|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Frame_Shift_Del_p.I235fs|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Frame_Shift_Del_p.I196fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.I196fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GCCAATGGGATCCCTGTGGAC	0.453													56	44	---	---	---	---