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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GNL1	2794	broad.mit.edu	37	6	30522855	30522855	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr6:30522855C>G	uc003nqh.3	-	2	1744	c.353G>C	c.(352-354)cGg>cCg	p.R118P	GNL1_uc011dmi.2_5'UTR|GNL1_uc011dmj.2_Missense_Mutation_p.R116P|GNL1_uc011dmk.2_Intron|PRR3_uc003nqi.2_5'Flank|PRR3_uc003nqj.2_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	118					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	p.R118L(2)|p.R118Q(2)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATACACCTCCCGGATGTCCAG	0.562000														105			28		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	1998896	1998896	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr8:1998896G>C	uc003wpx.4	+	1	154	c.16G>C	c.(16-18)Gtc>Ctc	p.V6L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	6					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTGTGACTGTCCCCTTCTA	0.488000														45			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38879298	38879298	+	Silent	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr6:38879298T>C	uc021yzh.1	+	65	9904	c.9795T>C	c.(9793-9795)ggT>ggC	p.G3265G	DNAH8_uc003ooe.2_Silent_p.G3048G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATAAATGGTTATAAAAACA	0.363000														25			26		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107386774	107386774	+	Silent	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr12:107386774G>A	uc001tmi.3	-	10	2485	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	542					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding	p.G542G(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCTGACTGTCGCCATGAGCAT	0.333000														29			3		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011717	140011717	+	Silent	SNP	C	T	T	rs150900616		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr5:140011717C>T	uc003lgi.2	-	1	1231	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617000														49			10		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1568356	1568356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr16:1568356G>A	uc002cmb.3	-	29	4405	c.4043C>T	c.(4042-4044)aCg>aTg	p.T1348M	IFT140_uc002clz.3_Missense_Mutation_p.T961M	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1348										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)				CTCTGTGTACGTCCTGCCGAG	0.597000														25			6		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73478014	73478014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr9:73478014C>T	uc004aid.3	-	2	516	c.272G>A	c.(271-273)cGt>cAt	p.R91H	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Missense_Mutation_p.R91H|TRPM3_uc010mor.3_Missense_Mutation_p.R91H|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Missense_Mutation_p.R93H	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	91						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCCTATCAGACGCCCACAGCA	0.468000														22			21		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976345	16976345	+	RNA	SNP	T	C	C	rs139809665	by1000genomes	TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:16976345T>C	uc010och.2	+	12		c.2190T>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTTGCTGAATGTCATCTCCA	0.582000														48			6		0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100949960	100949960	+	Missense_Mutation	SNP	A	T	T	rs140849467	byFrequency	TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:100949960A>T	uc001dtf.2	+	10	1578	c.1090A>T	c.(1090-1092)Att>Ttt	p.I364F	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.I306F|CDC14A_uc001dte.4_Missense_Mutation_p.I364F|CDC14A_uc009wed.1_Missense_Mutation_p.I71F|CDC14A_uc001dtg.4_Missense_Mutation_p.I364F|CDC14A_uc009wee.3_Missense_Mutation_p.I364F	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	364					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TGATATGTCTATTGGTGGAAA	0.368000														41			14		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91367019	91367019	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr14:91367019A>G	uc001xys.2	-	9	1396	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	RPS6KA5_uc010twi.1_Missense_Mutation_p.L315P|RPS6KA5_uc001xyt.3_Missense_Mutation_p.L394P|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	394					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GTGAAACTGAAGAGGGTCTAT	0.388000														14			6		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532572	100532572	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr4:100532572T>C	uc011cej.2	+	13	2045	c.2032T>C	c.(2032-2034)Ttt>Ctt	p.F678L	MTTP_uc003hvc.4_Missense_Mutation_p.F651L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	651					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCTGAACATCTTTCAGTACAT	0.433000														52			14		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120589192	120589192	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr12:120589192G>C	uc001txo.3	-	33	4079	c.4066C>G	c.(4066-4068)Cag>Gag	p.Q1356E		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1356					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACGGACTCCTGGACCTGGGGA	0.597000														16			4		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520108	63520108	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr11:63520108C>G	uc001nxq.3	+	4	3055	c.2868C>G	c.(2866-2868)gaC>gaG	p.D956E	RTN3_uc001nxp.3_Missense_Mutation_p.D160E|RTN3_uc009yov.3_Missense_Mutation_p.D844E|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Missense_Mutation_p.D179E|RTN3_uc001nxn.3_Missense_Mutation_p.D937E|RTN3_uc001nxo.3_Missense_Mutation_p.D160E	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	956	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATCTGGTTGACTCCTTGAAGG	0.413000														44			15		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438358	120438358	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:120438358T>C	uc001eij.3	-	0	790	c.602A>G	c.(601-603)cAc>cGc	p.H201R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	201					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.H201H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTACTTTGGGTGTTTATAGGA	0.403000														234			7		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462323	5462323	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr11:5462323T>C	uc010qze.2	-	0	461	c.422A>G	c.(421-423)aAc>aGc	p.N141S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATATACGGTTGTGAGTGAG	0.478000														23			10		0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508539	170508539	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:170508539A>G	uc001gha.2	+	1	352	c.325A>G	c.(325-327)Act>Gct	p.T109A	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Missense_Mutation_p.T109A|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	109						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCCTACTCTTCCGAG	0.473000														108			10		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789497	31789497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr3:31789497G>A	uc021wuu.1	-	4	1516	c.845C>T	c.(844-846)tCt>tTt	p.S282F	OSBPL10_uc003ceu.1_Missense_Mutation_p.S39F|OSBPL10_uc011axf.2_Missense_Mutation_p.S218F	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	282					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGTGGCAGCAGAGGTAGCTTT	0.632000														55			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525788	176525788	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:176525788C>G	uc001gkz.3	+	1	1494	c.330C>G	c.(328-330)gaC>gaG	p.D110E	PAPPA2_uc001gky.1_Missense_Mutation_p.D110E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	110					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D110H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCCCCCAGACCTGACTGAAA	0.557000														283			21		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371226	48371226	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr10:48371226A>G	uc001jex.3	+	1	856	c.694A>G	c.(694-696)Act>Gct	p.T232A	ZNF488_uc021ppx.1_Missense_Mutation_p.T232A	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ACTCTGTAGCACTTTTCTGGG	0.567000														45			19		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589456	17589456	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr22:17589456C>T	uc002zly.3	+	12	1478	c.1347C>T	c.(1345-1347)cgC>cgT	p.R449R		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	449	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGTGCTCCCGCGGCACGCGCG	0.672000														31			4		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7990713	7990713	+	Silent	SNP	C	A	A	rs149687727		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr17:7990713C>A	uc002gjy.1	-	0	309	c.48G>T	c.(46-48)tcG>tcT	p.S16S	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	16	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.S16S(2)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCCGTGTTCCCGACAAGAGGT	0.597000										Multiple Myeloma(8;0.094)				33			15		5.01169e-05	5.19284e-05	1	1	0
ZMAT4	79698	broad.mit.edu	37	8	40532282	40532282	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr8:40532282G>A	uc003xnr.3	-	4	664	c.518C>T	c.(517-519)gCg>gTg	p.A173V	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	173						nucleus	DNA binding|zinc ion binding	p.A173V(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AACTCTTGCCGCATTCTTTTT	0.478000														86			79		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748461	19748461	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr7:19748461G>A	uc003sup.1	-	0	200	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	60						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTAGCGGGGCGACAGCGCGAT	0.582000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			7		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422908	20422908	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr16:20422908G>C	uc002dhe.3	+	1	249	c.102G>C	c.(100-102)aaG>aaC	p.K34N	ACSM5_uc002dhd.1_Missense_Mutation_p.K34N	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	34					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTCCTCAGAAGATCGTGGCCA	0.577000														37			11		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	437304	437304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr4:437304C>T	uc003gaf.4	-	2	1274	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.A318T|ABCA11P_uc010ibe.3_Missense_Mutation_p.A306T	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TAAAGGTTTGCGGACTGTCTA	0.408000														45			3		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581535	40581535	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:40581535A>C	uc010xvh.2	-	5	965	c.817T>G	c.(817-819)Tct>Gct	p.S273A	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.S272A|ZNF780A_uc002omz.3_Missense_Mutation_p.S272A	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S273A(1)|p.S238A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACACCAGAATGAATACTC	0.388000														165			4		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834475	101834475	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr5:101834475G>A	uc003knn.3	-	0	246	c.74C>T	c.(73-75)gCg>gTg	p.A25V	SLCO6A1_uc003kno.3_Missense_Mutation_p.A25V|SLCO6A1_uc003knp.3_Missense_Mutation_p.A25V|SLCO6A1_uc003knq.3_Missense_Mutation_p.A25V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	25						integral to membrane|plasma membrane	transporter activity	p.A24A(1)|p.A25T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTGGGCCCGCGCGGCCTCCAG	0.647000														153			34		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	982066	982066	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:982066C>T	uc001ack.2	+	17	3251	c.3201C>T	c.(3199-3201)agC>agT	p.S1067S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1067	Ser/Thr-rich.				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)		ATGGAAGCAGCGATGAGGAAC	0.692000														16			3		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431713	101431713	+	RNA	SNP	A	C	C	rs3968287		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr3:101431713A>C	uc003dvj.3	+	0		c.436A>C								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GATAAATCAGAACCTCAGTGG	0.438000														83			5		0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126860242	126860242	+	Silent	SNP	T	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr5:126860242T>G	uc003kuk.3	+	2	303	c.123T>G	c.(121-123)tcT>tcG	p.S41S	PRRC1_uc003kuj.4_Silent_p.S41S	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	41	Pro-rich.					Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GTTCTTTTTCTTCTCCAAATG	0.423000														104			45		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761040	61761040	+	Silent	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr16:61761040G>A	uc002eog.2	-	8	2449	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	CDH8_uc002eoh.3_Silent_p.S267S	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S498C(1)|p.A497V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTCATATTCGGATGCGAATT	0.388000														51			15		0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37974922	37974922	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:37974922G>A	uc010efl.1	+	5	685	c.566G>A	c.(565-567)gGc>gAc	p.G189D	ZNF570_uc002ogk.1_Missense_Mutation_p.G133D|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATGTGAGGGCTATTTTGAA	0.368000														54			15		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084270	17084270	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:17084270C>T	uc010ock.2	-	12	1747	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.A183T					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCCCAGCCTGCAATCTCACAC	0.582000														275			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773913	140773913	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr5:140773913C>T	uc003lkd.2	+	0	2431	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.T511T|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGACACCGGTGTCCTGT	0.602000														28			39		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615001	79615001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr17:79615001G>A	uc010die.3	+	3	845	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	249						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGACCCCCGCGAAGATGGAGC	0.652000														17			4		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10692194	10692194	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr8:10692194C>A	uc011kwz.2	-	1	144	c.111G>T	c.(109-111)atG>atT	p.M37I	SOX7_uc003wth.2_Missense_Mutation_p.M37I|SOX7_uc003wti.2_Missense_Mutation_p.M37I	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.G37W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TAGACCACCCCATCTTCTCTA	0.453000														26			5		1	1	1	1	0
FMO3	2328	broad.mit.edu	37	1	171076936	171076936	+	Missense_Mutation	SNP	G	A	A	rs72549325		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:171076936G>A	uc001ghi.3	+	3	553	c.442G>A	c.(442-444)Gga>Aga	p.G148R	FMO3_uc001ghh.3_Missense_Mutation_p.G148R|FMO3_uc010pmb.2_Missense_Mutation_p.G128R|FMO3_uc010pmc.2_Missense_Mutation_p.G85R	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	148					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.G148V(1)|p.S147S(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGTTCCGGACATCATGT	0.403000														109			43		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175304874	175304874	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:175304874C>A	uc001gkp.1	-	17	3685	c.3604G>T	c.(3604-3606)Ggg>Tgg	p.G1202W	TNR_uc009wwu.1_Missense_Mutation_p.G1202W	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1202	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.F1201F(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)					TCCACGTTCCCGAAGCCAACA	0.438000														121			51		6.09941e-20	6.72499e-20	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54735162	54735162	+	Silent	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr6:54735162T>C	uc003pck.3	+	1	234	c.118T>C	c.(118-120)Tta>Cta	p.L40L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	40										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)					TGAACACGGGTTAGAAGCATA	0.373000														59			30		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33276308	33276308	+	Silent	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:33276308T>C	uc001bvy.1	-	2	1052	c.264A>G	c.(262-264)gaA>gaG	p.E88E		NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	88					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTTCTAGAAGTTCCCATGGGG	0.468000														47			6		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208165	58208165	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr13:58208165C>T	uc001vhq.1	+	0	2377	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	PCDH17_uc010aec.1_Silent_p.L495L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	495	Cadherin 5.				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)		GCTCTGTGCTCGCCCAGGATC	0.577000														40			6		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126301339	126301339	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr11:126301339C>T	uc001qea.3	-	13	2032	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	KIRREL3_uc001qeb.3_Silent_p.A545A|KIRREL3_uc001qec.1_Silent_p.A557A|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	557					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CACAGCAGAACGCCACGATGG	0.617000														12			4		0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162762536	162762536	+	Silent	SNP	A	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:162762536A>G	uc001gci.3	+	1	218	c.123A>G	c.(121-123)gcA>gcG	p.A41A	HSD17B7_uc009wuv.3_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.	41					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TGAGCAAGGCAGAAGCTGTCT	0.592000														44			20		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196621001	196621001	+	Silent	SNP	T	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr2:196621001T>G	uc002utj.4	-	61	11543	c.11442A>C	c.(11440-11442)gcA>gcC	p.A3814A	DNAH7_uc002uti.4_Silent_p.A297A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3814					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						TAGACATGACTGCAAGCCCCT	0.358000														43			12		0	0	1	0	0
RHOQ	23433	broad.mit.edu	37	2	46770278	46770278	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr2:46770278C>T	uc002rva.3	+	0	412	c.93C>T	c.(91-93)aaC>aaT	p.N31N	AF086285_uc021vgw.1_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	31					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCTATGCCAACGACGCCTTCC	0.662000														94			12		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289716	18289716	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr10:18289716C>G	uc001ipo.2	+	10	1994	c.1721C>G	c.(1720-1722)aCg>aGg	p.T574R	SLC39A12_uc001ipn.2_Missense_Mutation_p.T537R|SLC39A12_uc001ipp.2_Missense_Mutation_p.T573R|SLC39A12_uc010qck.1_Missense_Mutation_p.T440R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	574					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.T537M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GTGACCACTACGATTGCTATC	0.443000														19			4		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3123134	3123134	+	Silent	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr4:3123134T>C	uc021xkv.1	+	8	1393	c.1248T>C	c.(1246-1248)cgT>cgC	p.R416R		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	416					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCGAAGCCGTAGTGGGAGTA	0.498000														33			6		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71713371	71713371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr16:71713371C>T	uc002fax.3	-	5	964	c.958G>A	c.(958-960)Gag>Aag	p.E320K	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.E320K|PHLPP2_uc002fay.1_Missense_Mutation_p.E320K	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	320						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.E320D(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GTAGAGATCTCGCATAACAAT	0.378000														15			19		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225750	39225750	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr3:39225750C>T	uc003cjk.2	-	1	5416	c.5187G>A	c.(5185-5187)gtG>gtA	p.V1729V	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.V412V|XIRP1_uc021wvz.1_Silent_p.V1729V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1729	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTCAGGTTGCACAGAGCACT	0.572000														34			14		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212407	183212407	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:183212407C>T	uc001gqa.2	+	22	3768	c.3454C>T	c.(3454-3456)Cag>Tag	p.Q1152*		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1152	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGCACGTCAGCAGAGGGGCCA	0.562000														104			4		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622111	234622111	+	Silent	SNP	G	A	A	rs147117995	byFrequency	TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr2:234622111G>A	uc002vuw.3	+	0	474	c.474G>A	c.(472-474)gcG>gcA	p.A158A	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.A158A	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	157					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	p.A158A(1)		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)	ACCTCTGCGCGGCGGTGCTGG	0.493000														86			24		0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985942	48985942	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr13:48985942C>T	uc010acu.3	-	0	1712	c.618G>A	c.(616-618)atG>atA	p.M206I	RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.M206I|LPAR6_uc001vcf.3_Missense_Mutation_p.M206I	NM_001162498	NP_005758	P43657	LPAR6_HUMAN	Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTTTAGCACCATACTAGAAC	0.279000														28			5		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711467	31711467	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr13:31711467C>T	uc001utl.3	-	17	2842	c.2571G>A	c.(2569-2571)atG>atA	p.M857I	HSPH1_uc001utj.3_Missense_Mutation_p.M855I|HSPH1_uc001utk.3_Missense_Mutation_p.M811I|HSPH1_uc010aaw.3_Missense_Mutation_p.M814I|HSPH1_uc010tds.2_Missense_Mutation_p.M779I	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	855					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.D856Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AGTCCAAGTCCATATTAACAG	0.299000														52			6		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230961	21230961	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr2:21230961C>A	uc002red.3	-	25	8907	c.8779G>T	c.(8779-8781)Ggg>Tgg	p.G2927W		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2927					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)	TTCCATGACCCTTTTCCAGAA	0.488000														80			43		6.21074e-16	6.67655e-16	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170989	214170989	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:214170989T>G	uc001hkh.3	+	1	1383	c.1111T>G	c.(1111-1113)Ttt>Gtt	p.F371V	PROX1_uc001hkg.1_Missense_Mutation_p.F371V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	371					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGTCAAAGTCTTTTCGGCCAA	0.527000														58			42		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081035	193081035	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr3:193081035G>T	uc011bsq.2	-	2	374	c.374C>A	c.(373-375)cCa>cAa	p.P125Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	125					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTTAATTCTGGCTTTATTAA	0.383000														47			9		0.0692343	0.0708827	1	1	0
F5	2153	broad.mit.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:169510463A>G	uc001ggg.1	-	12	4010	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1289	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)	GTCTGGCTGAAGTCTAGAGAA	0.517000														438			5		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36700203	36700203	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr17:36700203C>T	uc002hqd.3	-	18	3496	c.3271_splice	c.e18-1	p.S1091_splice	SRCIN1_uc002hqf.1_Splice_Site_p.S963_splice|SRCIN1_uc002hqe.2_Splice_Site_p.S986_splice	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	963					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCCTCCGCCACTCTGCAGGAA	0.637000														1			3		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61084778	61084778	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr13:61084778A>T	uc001vhz.4	+	9	1539	c.751A>T	c.(751-753)Agg>Tgg	p.R251W	TDRD3_uc010aef.2_Missense_Mutation_p.R76W|TDRD3_uc001via.3_Missense_Mutation_p.R251W|TDRD3_uc010aeg.3_Missense_Mutation_p.R344W|TDRD3_uc001vib.4_Missense_Mutation_p.R250W	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	251					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGAAAAGGCAGGGGGCGAAT	0.343000														13			19		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606171	1606171	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr11:1606171C>T	uc001ltu.1	-	0	343	c.309G>A	c.(307-309)ggG>ggA	p.G103G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	103	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTTGGAGCCCCCACAGGAGC	0.672000														40			4		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2811639	2811639	+	Silent	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:2811639C>T	uc002lwj.3	+	11	1970	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	THOP1_uc010xgz.2_Silent_p.Y484Y|THOP1_uc002lwk.3_Silent_p.Y116Y	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	605					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAGGTGGCTACGACGCCCAGT	0.612000														20			6		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62238236	62238236	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr17:62238236G>C	uc002jed.3	-	7	2901	c.2750C>G	c.(2749-2751)aCc>aGc	p.T917S	TEX2_uc002jec.3_Missense_Mutation_p.T910S|TEX2_uc002jee.3_Missense_Mutation_p.T910S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	910					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATTCATTTTGGTCTCGAGAGT	0.398000														81			14		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147631261	147631261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr6:147631261C>T	uc003qlz.3	+	9	1134	c.959C>T	c.(958-960)aCt>aTt	p.T320I	STXBP5_uc010khz.2_Missense_Mutation_p.T320I|STXBP5_uc003qly.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	320					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCATATGATACTGTAGGAAGA	0.333000														56			15		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40797677	40797677	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr22:40797677C>A	uc003ayu.1	+	2	297	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	SGSM3_uc010gyc.1_Missense_Mutation_p.Q30K|SGSM3_uc011aos.1_Intron|SGSM3_uc011aot.1_Intron	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	30					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CAAGTACACGCAGGTATAGCA	0.587000														33			3		0.150653	0.152426	1	1	0
C16orf59	80178	broad.mit.edu	37	16	2514205	2514205	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr16:2514205T>G	uc002cqh.3	+	8	1161	c.1130T>G	c.(1129-1131)cTg>cGg	p.L377R	C16orf59_uc002cqg.2_Missense_Mutation_p.L210R|C16orf59_uc002cqi.3_Missense_Mutation_p.L210R|C16orf59_uc010uwb.2_Missense_Mutation_p.W172G	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	377										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GTGGCTGTGCTGGACCAGCAG	0.642000														16			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719816	140719816	+	Silent	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr5:140719816T>C	uc003ljk.2	+	0	1463	c.1278T>C	c.(1276-1278)gaT>gaC	p.D426D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.D426D	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTAAAGATGGAGGGAACC	0.502000														47			11		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182916	34182916	+	Missense_Mutation	SNP	G	T	T	rs142055675		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr7:34182916G>T	uc011kap.2	+	14	2194	c.1820G>T	c.(1819-1821)cGg>cTg	p.R607L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	607					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCATATACCCGGGCCTGCCAG	0.463000														46			15		2.32078e-09	2.46404e-09	1	1	0
GABRE	2564	broad.mit.edu	37	X	151128426	151128426	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chrX:151128426C>T	uc004ffi.3	-	5	723	c.669G>A	c.(667-669)atG>atA	p.M223I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	223					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGTAGATCATCTCATTCT	0.413000														7			23		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141641	14141641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:14141641C>T	uc002mxw.1	+	1	310	c.310C>T	c.(310-312)Cga>Tga	p.R104*	IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	104						extracellular region	hormone activity			endometrium(1)|lung(4)	5						TTACAGGGGGCGACCCAGCTG	0.622000														40			9		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827968	182827968	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:182827968C>A	uc001gpr.3	+	9	1176	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	DHX9_uc001gps.3_Missense_Mutation_p.P120H	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	334	MTAD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCTTGGTCACCTCCACAATCC	0.468000														45			29		5.77227e-19	6.28374e-19	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11514055	11514055	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr7:11514055T>C	uc021zzo.1	-	7	2410	c.2158A>G	c.(2158-2160)Acg>Gcg	p.T720A	THSD7A_uc021zzn.1_Missense_Mutation_p.T720A	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	720	TSP type-1 7.					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)		TTCCAAGTCGTAGTTGTGTTG	0.522000										HNSCC(18;0.044)				151			10		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	T	T	rs104894340		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr12:58145430C>T	uc001spv.3	-	1	363	c.71G>A	c.(70-72)cGt>cAt	p.R24H	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557000			Mis			melanoma			Hereditary Melanoma					39			12		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34258076	34258076	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:34258076G>T	uc001bxm.1	-	10	1675	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	CSMD2_uc001bxn.1_Missense_Mutation_p.L460M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	460	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)				CCGACCGTCAGGGTGTCATAG	0.572000														46			11		1.58986e-06	1.66742e-06	1	1	0
DLL3	10683	broad.mit.edu	37	19	39994710	39994710	+	Splice_Site	SNP	G	C	C			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:39994710G>C	uc002olx.2	+	5	711	c.653_splice	c.e5-1	p.L218_splice	DLL3_uc010egq.3_Splice_Site_p.L218_splice|DLL3_uc002olw.2_Splice_Site_p.L218_splice	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	218	EGF-like 1.		L -> P (in dbSNP:rs1110627).		Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCCCCATAGTGGTGTGCCG	0.622000														29			7		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	T	T	rs121434596		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:115258744C>T	uc009wgu.3	-	1	292	c.38G>A	c.(37-39)gGt>gAt	p.G13D		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13D(380)|p.G12D(379)|p.G12S(135)|p.G13V(113)|p.G12C(84)|p.G13R(76)|p.G12V(60)|p.G12A(42)|p.G13A(32)|p.G13C(23)|p.G12R(18)|p.G13S(5)|p.G12G(4)|p.G13G(3)|p.G13N(2)|p.G13Y(2)|p.G12N(2)|p.G12?(1)|p.G12E(1)|p.G12T(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498000	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				41			246		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436591	120436591	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr1:120436591delT	uc001eij.3	-	0	2557	c.2369delA	c.(2368-2370)aagfs	p.K790fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	790					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358													---	830	---	---	7	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr8:41166638_41166640delGCT	uc003xnt.3	-	0	351_353	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													---	1	---	---	5	---					
ZNF567	163081	broad.mit.edu	37	19	37209935	37209936	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A44R-06A-41D-A25O-08	TCGA-EB-A44R-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	138BE5AA-3758-452E-BDDB-F7AE6181A935	65DFAA7E-4637-4556-9A97-4430C74BDAC2	g.chr19:37209935_37209936insA	uc010xtl.2	+	5	531_532	c.309_310insA	c.(307-312)cacaaafs	p.H103fs	ZNF567_uc002oeo.1_Frame_Shift_Ins_p.H103fs|ZNF567_uc010xtk.1_Frame_Shift_Ins_p.H103fs|ZNF567_uc002oep.4_Frame_Shift_Ins_p.H72fs|ZNF567_uc002oeq.1_Frame_Shift_Ins_p.H72fs	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCATCAACCACAAAAAACTGGT	0.327													---	38	---	---	11	---