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
DNAH5	1767	broad.mit.edu	37	5	13766132	13766132	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:13766132C>T	uc003jfd.2	-	58	10096	c.10054G>A	c.(10054-10056)Gaa>Aaa	p.E3352K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3352	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)					TTTAAGGATTCCTGCCAGGAG	0.448000									Kartagener syndrome					70			27		0	0	0.005443	0	0
TAOK3	51347	broad.mit.edu	37	12	118588821	118588821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:118588821G>A	uc001twx.3	-	20	2973	c.2678C>T	c.(2677-2679)cCt>cTt	p.P893L	TAOK3_uc001twv.3_Missense_Mutation_p.P433L|TAOK3_uc001tww.3_Missense_Mutation_p.P723L|TAOK3_uc001twy.4_Missense_Mutation_p.P893L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	893					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTCCTTAGGAAAATCTAA	0.338000														57			18		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725195	140725195	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140725195T>G	uc003ljm.2	+	0	1595	c.1595T>G	c.(1594-1596)gTg>gGg	p.V532G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.V532G	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	534	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)			AAGCTACTGGTGACAGCCAGC	0.572000														98			17		0	0	0.007413	0	0
LIPN	643418	broad.mit.edu	37	10	90526048	90526048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:90526048G>A	uc010qmw.2	+	3	448	c.448G>A	c.(448-450)Gat>Aat	p.D150N		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	150					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GGCCAAATATGATCTCCCAGG	0.333000														58			18		0	0	0.010504	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957823	120957823	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:120957823C>T	uc003eec.4	+	12	1330	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	STXBP5L_uc011bji.2_Missense_Mutation_p.P397L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	397					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)		ATTAGTTTTCCAATCTTTGAA	0.308000														26			7		0	0	0.003080	0	0
OR1D2	4991	broad.mit.edu	37	17	2996197	2996197	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:2996197G>A	uc010vrb.2	-	0	94	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	32					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						TACATGGACAGGAACATCCAA	0.552000														54			29		0	0	0.007291	0	0
TBL2	26608	broad.mit.edu	37	7	72985206	72985206	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:72985206G>A	uc003tyh.3	-	6	1109	c.975C>T	c.(973-975)cgC>cgT	p.R325R	TBL2_uc011kex.2_Silent_p.R289R|TBL2_uc010lbg.3_Silent_p.R230R|TBL2_uc003tyi.3_Silent_p.R160R|TBL2_uc011key.2_Silent_p.R196R	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	325								p.G324V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTCTTCAAAGCGGCCTGTCT	0.577000														87			38		0	0	0.007835	0	0
RAMP3	10268	broad.mit.edu	37	7	45216990	45216990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:45216990G>A	uc003tnb.3	+	1	202	c.141G>A	c.(139-141)atG>atA	p.M47I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	47					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGCAGACATGATGGGCAAGG	0.617000														58			12		0	0	0.013537	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261547	54261547	+	RNA	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:54261547C>T	uc021vax.1	+	0		c.62C>T								Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA.																		GAAATCGCTTCCCTTTGGAGT	0.448000														58			12		0	0	0.013537	0	0
FAM83A	84985	broad.mit.edu	37	8	124206317	124206317	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:124206317G>A	uc003ypv.3	+	3	2716	c.702G>A	c.(700-702)agG>agA	p.R234R	FAM83A_uc003ypw.3_Silent_p.R234R|FAM83A_uc003ypx.3_Silent_p.R234R|FAM83A_uc003ypy.3_Silent_p.R178R|FAM83A_uc003ypz.3_Silent_p.R234R	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	234										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCAGGCAGGAAATTCGCTG	0.473000														59			14		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179588856	179588856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179588856G>A	uc021vsy.1	-	69	17623	c.17398C>T	c.(17398-17400)Ccc>Tcc	p.P5800S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2461S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6727	Ig-like 39.						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)			GTGAAAGAGGGAGGAACTGCT	0.418000														11			7		0	0	0.003080	0	0
PPARG	5468	broad.mit.edu	37	3	12458329	12458329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:12458329C>T	uc003bwx.3	+	5	1037	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	PPARG_uc003bwr.3_Missense_Mutation_p.R288C|PPARG_uc003bws.3_Missense_Mutation_p.R288C|PPARG_uc003bwu.3_Missense_Mutation_p.R288C|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	316			R -> H (in colon cancer; sporadic; somatic mutation; partial loss of ligand- binding; dbSNP:rs28936407).		activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTGCCAGTTTCGCTCCGTGGA	0.478000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							265			111		0	0	0.014410	0	0
S100A10	6281	broad.mit.edu	37	1	151958577	151958577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:151958577C>T	uc001ezl.3	-	1	638	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_002966	NP_002957	P60903	S10AA_HUMAN	Homo sapiens S100 calcium binding protein A10 (S100A10), mRNA.	44					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACACTTACTTCCAAAAATCCA	0.418000														87			10		0	0	0.010729	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:57925811G>A	uc002aei.3	+	8	936	c.805_splice	c.e8-1	p.E269_splice	GCOM1_uc002aej.3_Splice_Site_p.E269_splice|GCOM1_uc002aek.3_Splice_Site|GCOM1_uc002ael.3_Splice_Site|GCOM1_uc002aem.3_Splice_Site_p.E269_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.E269_splice	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	269					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000														54			17		0	0	0.006122	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257443	84257443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:84257443G>A	uc002bjw.3	+	7	953	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	SH3GL3_uc010uot.1_Missense_Mutation_p.R253Q|SH3GL3_uc002bjx.3_Missense_Mutation_p.R184Q|SH3GL3_uc002bju.3_Missense_Mutation_p.R261Q|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCCCCAGACGAGAATACAAG	0.458000														37			11		0	0	0.008291	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443983	5443983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5443983G>A	uc010qzd.2	+	0	643	c.553G>A	c.(553-555)Gat>Aat	p.D185N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCACCAGGATATGATCCG	0.512000														108			46		0	0	0.014410	0	0
ANKS1A	23294	broad.mit.edu	37	6	34952961	34952961	+	Missense_Mutation	SNP	C	T	T	rs144301550	by1000genomes	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:34952961C>T	uc003ojx.4	+	7	1257	c.1115C>T	c.(1114-1116)tCg>tTg	p.S372L	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	372						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTGCCATTCGTTGGACAGC	0.512000														34			12		0	0	0.001855	0	0
MMP17	4326	broad.mit.edu	37	12	132329987	132329987	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:132329987C>T	uc001ujc.1	+	7	1296	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	MMP17_uc001ujd.1_Silent_p.F315F	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	399	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		AGATCGTCTTCTTTAAAGGTG	0.672000														18			5		0	0	0.000602	0	0
VWC2	375567	broad.mit.edu	37	7	49842344	49842344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:49842344G>A	uc003tot.1	+	2	1290	c.734G>A	c.(733-735)gGt>gAt	p.G245D		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	245	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAAGCCAACGGTGAGGTGCTA	0.522000														82			32		0	0	0.010818	0	0
GPR98	84059	broad.mit.edu	37	5	90004636	90004636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:90004636G>A	uc003kju.3	+	38	8830	c.8734G>A	c.(8734-8736)Gat>Aat	p.D2912N	GPR98_uc003kjt.3_Missense_Mutation_p.D618N|GPR98_uc003kjv.3_Missense_Mutation_p.D512N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2912	Calx-beta 20.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TTTTCAGGATGATGTACCAGA	0.338000														54			17		0	0	0.004007	0	0
TCN2	6948	broad.mit.edu	37	22	31011344	31011344	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:31011344C>T	uc003aip.2	+	4	886	c.637C>T	c.(637-639)Cct>Tct	p.P213S	TCN2_uc003air.2_Missense_Mutation_p.P186S	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	213					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557000														47			14		0	0	0.002450	0	0
CNOT2	4848	broad.mit.edu	37	12	70724190	70724190	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:70724190G>A	uc001svv.3	+	5	1092	c.510G>A	c.(508-510)tcG>tcA	p.S170S	CNOT2_uc009zro.3_Silent_p.S170S|CNOT2_uc009zrp.3_Silent_p.S150S|CNOT2_uc009zrq.3_Silent_p.S170S	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	170					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	p.S170S(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACAGAAGCTCGCCAAGCATAA	0.453000														55			8		0	0	0.004482	0	0
OR2F2	135948	broad.mit.edu	37	7	143632411	143632411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:143632411C>T	uc011ktv.2	+	0	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCCTGTTTTCCCTGTTCTTG	0.448000														86			70		0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10362600	10362600	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10362600C>T	uc002gmn.3	-	14	1666	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	519	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						GCAGCCAGGTCCATCCCGAAG	0.468000														56			14		0	0	0.006122	0	0
OR2A2	442361	broad.mit.edu	37	7	143807498	143807498	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:143807498C>T	uc011ktz.2	+	0	823	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AATGCTGTCCCTGTTTCACAG	0.512000														65			34		0	0	0.011902	0	0
DOCK4	9732	broad.mit.edu	37	7	111398733	111398733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:111398733G>A	uc003vfy.3	-	41	4653	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C	DOCK4_uc011kml.2_Missense_Mutation_p.R298C|DOCK4_uc011kmm.2_Missense_Mutation_p.R324C|DOCK4_uc003vfw.3_Missense_Mutation_p.R867C|DOCK4_uc003vfx.3_Missense_Mutation_p.R1417C	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1417	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGGTCATAGCGGAATTTCCAG	0.438000														18			13		0	0	0.003163	0	0
RP1L1	94137	broad.mit.edu	37	8	10467849	10467849	+	Silent	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:10467849T>C	uc003wtc.3	-	3	3988	c.3759A>G	c.(3757-3759)caA>caG	p.Q1253Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1253					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACACTGCTGTTGGTTTTCCA	0.557000														43			15		0	0	0.003163	0	0
BDP1	55814	broad.mit.edu	37	5	70782429	70782429	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:70782429C>T	uc003kbp.1	+	8	1451	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	BDP1_uc003kbn.1_Silent_p.S396S|BDP1_uc003kbo.3_Silent_p.S396S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	396	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGAAGAAATCCACCAAACCAC	0.318000														28			9		0	0	0.008291	0	0
ERBB4	2066	broad.mit.edu	37	2	212568876	212568876	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:212568876G>A	uc002veg.1	-	10	1340	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	ERBB4_uc002veh.1_Silent_p.F414F|ERBB4_uc010zji.1_Silent_p.F414F|ERBB4_uc010zjj.1_Silent_p.F414F|ERBB4_uc010fut.1_Silent_p.F414F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	414					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)		AAAAAACACTGAAGTCAGTCA	0.388000										TSP Lung(8;0.080)				55			21		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9061148	9061148	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:9061148G>A	uc002mkp.3	-	2	26502	c.26298C>T	c.(26296-26298)tcC>tcT	p.S8766S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8768	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I8765I(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						TGGTTTCCGTGGAGATTTCTG	0.507000														53			20		0	0	0.003330	0	0
CLIC5	53405	broad.mit.edu	37	6	45870870	45870870	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:45870870G>A	uc003oxv.3	-	5	1294	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLIC5_uc003oxu.3_Silent_p.I237I	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	396	GST C-terminal.				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGCCAACTCGATCTCACTGT	0.567000														34			14		0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89402228	89402228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:89402228G>A	uc010upo.1	+	11	6786	c.6412G>A	c.(6412-6414)Gaa>Aaa	p.E2138K	ACAN_uc010upp.1_Missense_Mutation_p.E2138K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2138					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCATTCCACGAAGCTAACCT	0.577000														52			20		0	0	0.010504	0	0
ZNF716	441234	broad.mit.edu	37	7	57510015	57510015	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:57510015C>T	uc011kdi.1	+	0	133	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GACCGGGACCCCCTGGAAGCC	0.567000														24			19		0	0	0.003954	0	0
FGF9	2254	broad.mit.edu	37	13	22275499	22275499	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr13:22275499C>T	uc001uog.2	+	2	1389	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	184					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACCAGAAATTCACACATTTTT	0.433000														23			13		0	0	0.013537	0	0
ZNF251	90987	broad.mit.edu	37	8	145947274	145947274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:145947274C>T	uc003zdv.4	-	4	2027	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TAGGGCTTTTCCCCAGCATGC	0.433000														44			32		0	0	0.012213	0	0
SEC14L5	9717	broad.mit.edu	37	16	5061172	5061172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:5061172G>A	uc002cye.2	+	14	2057	c.1877G>A	c.(1876-1878)tGc>tAc	p.C626Y		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	626	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGCGTGGCCTGCAGCCTCCCG	0.647000														5			5		0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	T	T	rs121913389		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:21971028C>T	uc003zpk.3	-	1	636	c.330G>A	c.(328-330)tgG>tgA	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G125R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	110					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.W110*(78)|p.?(44)|p.A109V(2)|p.H83fs*2(2)|p.G166R(2)|p.W110C(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(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)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				73			36		0	0	0.004289	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166099	140166099	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140166099T>G	uc003lhb.2	+	0	224	c.224T>G	c.(223-225)cTg>cGg	p.L75R	PCDHAC2_uc003lha.2_Missense_Mutation_p.L75R|PCDHAC2_uc003lgz.3_Missense_Mutation_p.L75R	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	90	Cadherin 1.				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)			AGGGACCTTCTGGAGGTAAAT	0.597000														61			20		0	0	0.012319	0	0
OR4D5	219875	broad.mit.edu	37	11	123811257	123811257	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:123811257C>T	uc001pzk.1	+	0	934	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P311L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		TATTGGTCCCCTGGAGCACAG	0.498000														40			10		0	0	0.008291	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833840	101833840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:101833840G>A	uc001pgm.3	+	5	2344	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	KIAA1377_uc001pgn.3_Missense_Mutation_p.D648N|KIAA1377_uc010run.2_Missense_Mutation_p.D493N|KIAA1377_uc009yxa.1_Missense_Mutation_p.D493N	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	692							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTCCAGGGAGGATTCTATCTC	0.388000														60			19		0	0	0.008871	0	0
CPSF6	11052	broad.mit.edu	37	12	69652823	69652823	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:69652823C>T	uc001sut.4	+	5	1258	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	CPSF6_uc001suu.4_Missense_Mutation_p.P420L|CPSF6_uc010stk.2_Missense_Mutation_p.P14L	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	383	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAACAGATCCATATGGGCGA	0.512000														46			19		0	0	0.008871	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:24884614C>T	uc001wpf.4	+	8	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1220					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						AAGCATTTTTCCCGCTGCATT	0.637000														32			21		0	0	0.008871	0	0
C5orf42	65250	broad.mit.edu	37	5	37183400	37183400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:37183400G>A	uc011cpa.1	-	25	5114	c.4883C>T	c.(4882-4884)tCa>tTa	p.S1628L	C5orf42_uc011coy.1_Missense_Mutation_p.S129L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S703L|C5orf42_uc011cpb.1_Missense_Mutation_p.S509L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1628										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGATTTTTCTGATTCATAGGA	0.348000														21			6		0	0	0.001168	0	0
NRP2	8828	broad.mit.edu	37	2	206608069	206608069	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:206608069C>T	uc002vaw.3	+	8	2225	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	NRP2_uc002vat.3_Silent_p.I478I|NRP2_uc002vau.3_Silent_p.I478I|NRP2_uc002vav.3_Silent_p.I478I|NRP2_uc002vax.3_Silent_p.I478I|NRP2_uc002vay.3_Silent_p.I478I|NRP2_uc010fud.3_Silent_p.I478I	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	478	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCTCGAATCCCTCAGGCCC	0.617000														55			19		0	0	0.006122	0	0
PCSK4	54760	broad.mit.edu	37	19	1487004	1487004	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:1487004C>T	uc002ltb.1	-	7	978	c.916G>A	c.(916-918)Gac>Aac	p.D306N	PCSK4_uc002lta.2_Missense_Mutation_p.D118N	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	306	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCAGTTGTCGTAGTGCAGG	0.706000														40			15		0	0	0.003163	0	0
DISC1	27185	broad.mit.edu	37	1	231830097	231830098	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:231830097_231830098CC>TT	uc010pxh.2	+	1	646_647	c.593_594CC>TT	c.(592-594)acc>aTT	p.T198I	DISC1_uc010pwe.2_Missense_Mutation_p.T153I|DISC1_uc010pwf.2_Missense_Mutation_p.T153I|DISC1_uc010pwj.1_Missense_Mutation_p.T187I|DISC1_uc010pwk.1_Missense_Mutation_p.T187I|DISC1_uc010pwg.1_Missense_Mutation_p.T187I|DISC1_uc010pwh.1_Missense_Mutation_p.T153I|DISC1_uc010pwi.1_Missense_Mutation_p.T153I|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.T198I|DISC1_uc010pwo.2_Missense_Mutation_p.T198I|DISC1_uc010pwq.2_Missense_Mutation_p.T198I|DISC1_uc010pwr.1_Missense_Mutation_p.T198I|DISC1_uc010pws.1_Missense_Mutation_p.T198I|DISC1_uc010pwt.1_Missense_Mutation_p.T198I|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.T198I|DISC1_uc001huy.3_Missense_Mutation_p.T198I|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.T198I|DISC1_uc010pxc.1_Missense_Mutation_p.T198I|DISC1_uc010pxe.2_Missense_Mutation_p.T198I|DISC1_uc010pxf.2_Missense_Mutation_p.T198I|DISC1_uc010pxg.2_Missense_Mutation_p.T198I|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.T153I|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.T198I|DISC1_uc001huz.3_Missense_Mutation_p.T198I|DISC1_uc001hva.3_Missense_Mutation_p.T198I|DISC1_uc010pwm.2_Missense_Mutation_p.T198I|DISC1_uc001hvc.3_Missense_Mutation_p.T198I|DISC1_uc010pwn.1_Missense_Mutation_p.T198I|DISC1_uc021pkn.1_Missense_Mutation_p.T198I|DISC1_uc001hux.1_Missense_Mutation_p.T198I	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	198	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GTCCCCCCAACCCCTCCTGGCT	0.609000														38			13		0	0	0.004672	0	0
PTEN	5728	broad.mit.edu	37	10	89711876	89711876	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:89711876G>A	uc001kfb.3	+	6	1525	c.493_splice	c.e6-1	p.G165_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	165	Phosphatase tensin-type.		G -> E (in CD).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|G -> V (in CD).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G165E(6)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.G165V(1)|p.G165del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTCCACCAGGGAGTAACTATT	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				34			17		0	0	0.006122	0	0
LMTK2	22853	broad.mit.edu	37	7	97822385	97822385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:97822385C>T	uc003upd.2	+	10	2901	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	870					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGTTGAAATTCTCTCAACTGA	0.547000														29			14		0	0	0.001855	0	0
CMYA5	202333	broad.mit.edu	37	5	79030721	79030721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:79030721G>A	uc003kgc.3	+	1	6205	c.6133G>A	c.(6133-6135)Gaa>Aaa	p.E2045K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2045						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTACCTCCTGAAAGATTCTT	0.438000														39			19		0	0	0.014323	0	0
PPM1G	5496	broad.mit.edu	37	2	27610020	27610020	+	Silent	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27610020A>G	uc002rkl.3	-	1	333	c.126T>C	c.(124-126)gcT>gcC	p.A42A	PPM1G_uc002rkm.3_5'UTR	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	42					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TACAGTTGTGAGCATCCTAGG	0.438000														20			3		0	0	0.009096	0	0
DSC1	1823	broad.mit.edu	37	18	28725676	28725676	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:28725676C>T	uc002kwn.3	-	6	1099	c.837G>A	c.(835-837)ctG>ctA	p.L279L	DSC1_uc002kwm.3_Silent_p.L279L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	279	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)			TTTTATATTTCAGACGAGTAT	0.408000														49			16		0	0	0.004990	0	0
COPS5	10987	broad.mit.edu	37	8	67974244	67974244	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:67974244G>A	uc003xxf.3	-	1	247	c.74C>T	c.(73-75)cCg>cTg	p.P25L	CSPP1_uc003xxg.1_5'Flank|CSPP1_uc003xxh.1_5'Flank|CSPP1_uc003xxj.3_5'Flank|CSPP1_uc003xxi.3_5'Flank|COPS5_uc003xxd.3_5'UTR|COPS5_uc003xxe.3_5'UTR|COPS5_uc010lyv.1_5'UTR			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	0					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCGAGGAAGCGGAGAAGTTGT	0.557000														33			27		0	0	0.007291	0	0
IQGAP3	128239	broad.mit.edu	37	1	156501015	156501015	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:156501015G>A	uc001fpf.3	-	32	4203	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1376					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAACTGTATGATATCGGCCA	0.587000														62			13		0	0	0.002450	0	0
TBCE	6905	broad.mit.edu	37	1	235543451	235543451	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:235543451C>T	uc010pxr.1	+	1	210	c.87C>T	c.(85-87)gtC>gtT	p.V29V	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.V29V|TBCE_uc001hxa.1_Silent_p.V29V|TBCE_uc001hxb.1_5'UTR	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	29	CAP-Gly.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CTGGTGTTGTCCCTCCCGTGG	0.438000														15			8		0	0	0.006214	0	0
MST1P9	11223	broad.mit.edu	37	1	17085522	17085522	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:17085522G>T	uc010ock.2	-	9	1169	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					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						CCGCCCCAGGGTTAGGGCCCT	0.637000														45			5		0.00116845	0.00313182	0.001168	1	0
TAS1R2	80834	broad.mit.edu	37	1	19180943	19180943	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:19180943A>C	uc001bba.1	-	2	1022	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	341					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGGGCCCCACTCGCGGAAC	0.647000														28			11		0	0	0.008291	0	0
ITGB8	3696	broad.mit.edu	37	7	20421418	20421418	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:20421418C>T	uc003suu.3	+	5	1575	c.870C>T	c.(868-870)ctC>ctT	p.L290L	ITGB8_uc011jyh.2_Silent_p.L155L|ITGB8_uc003sut.3_Silent_p.L290L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	290	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.L290L(3)		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						CGTCTCATCTCGCTCTTGATA	0.418000														38			27		0	0	0.005443	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045867	26045867	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:26045867C>A	uc003nfv.3	+	0	229	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	77					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGAAATCGCCCAGGACTTCAA	0.617000														38			9		0.000673444	0.00181997	0.008291	1	0
COL4A3	1285	broad.mit.edu	37	2	228118856	228118856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:228118856G>A	uc002vom.2	+	13	956	c.794G>A	c.(793-795)gGa>gAa	p.G265E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	265	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACAAGGGAGCAATGGGC	0.423000														61			17		0	0	0.010504	0	0
DISP1	84976	broad.mit.edu	37	1	223116276	223116276	+	Silent	SNP	C	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:223116276C>A	uc001hnu.2	+	3	437	c.111C>A	c.(109-111)gcC>gcA	p.A37A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	37					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)		ACCATGCAGCCCAGCAGCTCA	0.498000														437			20		8.34094e-07	2.2729e-06	0.008871	1	0
CADM3	57863	broad.mit.edu	37	1	159163260	159163260	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:159163260G>A	uc001ftl.2	+	3	609	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CADM3_uc009wsx.1_Missense_Mutation_p.E178K|CADM3_uc009wsy.1_Missense_Mutation_p.E144K|CADM3_uc001ftk.2_Missense_Mutation_p.E178K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	144	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTCATTACGGGAAAAAGACAC	0.537000														48			19		0	0	0.010504	0	0
MACF1	23499	broad.mit.edu	37	1	39549971	39549971	+	Missense_Mutation	SNP	G	A	A	rs78058438		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:39549971G>A	uc010oir.2	+	1	260	c.68G>A	c.(67-69)gGa>gAa	p.G23E	MACF1_uc021ols.1_Silent_p.R27R|MACF1_uc001cdc.2_Silent_p.R27R|MACF1_uc021olt.1_Silent_p.R27R			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			GATCTTACAGGAGCGAGCGGT	0.617000														23			6		0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55716753	55716753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55716753G>A	uc002qjq.3	-	3	633	c.560C>T	c.(559-561)tCc>tTc	p.S187F	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.S194F	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	187	Fibronectin type-III 2.				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)		CACCCACATGGAAAACGCATA	0.507000														81			26		0	0	0.004656	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrGL000205.1:117657G>A	uc002kgk.4	+	0		c.1035G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														4			3		0	0	0.000602	0	0
RGS5	8490	broad.mit.edu	37	1	163117255	163117255	+	Silent	SNP	C	T	T	rs148613695		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:163117255C>T	uc001gcn.3	-	4	761	c.423G>A	c.(421-423)aaG>aaA	p.K141K	RGS5_uc021pdu.1_Silent_p.K33K|RGS5_uc021pdt.1_Silent_p.K145K|RGS5_uc009wvb.3_Silent_p.K33K	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	141	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCACCAGGTTCTTCATTGTGA	0.473000														41			10		0	0	0.008291	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212554	81212554	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:81212554C>T	uc002bfw.1	+	13	2177	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	KIAA1199_uc010unn.1_Silent_p.L639L	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	639										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACCCTCCTCCCCTCGGACC	0.557000														39			8		0	0	0.006214	0	0
CIT	11113	broad.mit.edu	37	12	120135790	120135790	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:120135790G>A	uc001txj.2	-	44	5749	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F	CIT_uc001txh.2_Missense_Mutation_p.S1375F|CIT_uc001txi.2_Missense_Mutation_p.S1856F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1856					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCCTGCTGAGGAGCGTGCCTG	0.527000														109			41		0	0	0.013114	0	0
PRRT3	285368	broad.mit.edu	37	3	9991656	9991656	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:9991656C>T	uc003bul.2	-	1	274	c.144G>A	c.(142-144)aaG>aaA	p.K48K	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Silent_p.K48K	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	48						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCACAGAGCCCTTGGGGTGGG	0.632000														36			11		0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179584174	179584174	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179584174C>T	uc021vsy.1	-	79	20436	c.20211G>A	c.(20209-20211)cgG>cgA	p.R6737R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R3398R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7664	Ig-like 49.						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)			GAGGCACAATCCGATCTATGT	0.473000														59			17		0	0	0.006122	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					26			25		0	0	0.004656	0	0
NAV3	89795	broad.mit.edu	37	12	78401099	78401099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:78401099C>T	uc001syp.3	+	7	1954	c.1781C>T	c.(1780-1782)tCt>tTt	p.S594F	NAV3_uc001syo.3_Missense_Mutation_p.S594F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	594						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCTCCTTCTGGTTCCTGT	0.522000										HNSCC(70;0.22)				77			30		0	0	0.008361	0	0
MYOCD	93649	broad.mit.edu	37	17	12639507	12639507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:12639507G>A	uc002gno.2	+	5	744	c.445G>A	c.(445-447)Gat>Aat	p.D149N	MYOCD_uc002gnn.2_Missense_Mutation_p.D149N|MYOCD_uc002gnp.1_Missense_Mutation_p.D53N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	149					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAAATCCACGGATGCTTTTGC	0.532000														140			52		0	0	0.014410	0	0
OR4C13	283092	broad.mit.edu	37	11	49974628	49974628	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:49974628C>T	uc010rhz.2	+	0	686	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGCGTGGTCATACTGTACT	0.488000														61			14		0	0	0.003163	0	0
OR6C74	254783	broad.mit.edu	37	12	55641155	55641155	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:55641155C>T	uc010spg.2	+	0	84	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTTTCTTCTCCTTTTTTTCA	0.373000														58			15		0	0	0.004007	0	0
PTPRH	5794	broad.mit.edu	37	19	55715188	55715188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55715188C>T	uc002qjq.3	-	4	921	c.848G>A	c.(847-849)gGa>gAa	p.G283E	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.G290E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	283	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)		GCTATTTACTCCGTCTTTCTC	0.488000														70			21		0	0	0.014323	0	0
KCNK2	3776	broad.mit.edu	37	1	215298016	215298016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:215298016G>A	uc001hkq.3	+	2	567	c.398G>A	c.(397-399)gGa>gAa	p.G133E	KCNK2_uc001hko.3_Missense_Mutation_p.G129E|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Intron|KCNK2_uc010pua.1_Intron|KCNK2_uc001hkr.4_Missense_Mutation_p.G118E	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	133							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATACCGTTAGGAAACACCTCC	0.383000														70			28		0	0	0.005443	0	0
KCNC4	3749	broad.mit.edu	37	1	110765869	110765869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:110765869C>T	uc009wfr.3	+	1	1748	c.962C>T	c.(961-963)gCc>gTc	p.A321V	KCNC4_uc001dzf.3_Missense_Mutation_p.A321V|KCNC4_uc001dzh.3_Missense_Mutation_p.A321V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.A321V	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	321					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACTTTGTGGCCATCCTGCCC	0.627000														33			12		0	0	0.010729	0	0
LRP1B	53353	broad.mit.edu	37	2	141739753	141739753	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:141739753G>T	uc002tvj.1	-	17	3835	c.2863C>A	c.(2863-2865)Cag>Aag	p.Q955K	LRP1B_uc010fnl.1_Missense_Mutation_p.Q137K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	955	LDL-receptor class A 5.				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)		TCATCTGTCTGGTCACCACAG	0.468000										TSP Lung(27;0.18)				42			8		0.000157383	0.0004265	0.003080	1	0
TMEM92	162461	broad.mit.edu	37	17	48356327	48356327	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:48356327C>T	uc002iqn.2	+	4	446	c.336C>T	c.(334-336)tcC>tcT	p.S112S	TMEM92_uc021tzz.1_Silent_p.S112S	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	112	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TCAGAGTATCCCTTTCTGCGC	0.652000														29			5		0	0	0.000602	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998240	72998241	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:72998240_72998241CC>TT	uc002lly.3	+	1	1306_1307	c.743_744CC>TT	c.(742-744)tcc>tTT	p.S248F	TSHZ1_uc021uln.1_Missense_Mutation_p.S248F	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R247>?(1)		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)		AGGAAGCGCTCCCTGATGGAGA	0.569000														26			19		0	0	0.004672	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260045	71260045	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:71260045C>T	uc001oqs.1	+	0	580	c.342C>T	c.(340-342)ccC>ccT	p.P114P		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	114	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCTGTAAGCCCTGTTGCTCCT	0.617000														84			27		0	0	0.004656	0	0
ADM2	79924	broad.mit.edu	37	22	50921076	50921076	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50921076G>A	uc003blj.3	+	1	483	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	ADM2_uc011ary.2_Missense_Mutation_p.R64Q	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA.	64					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGCTTCACCGGGCCCTCCAG	0.706000														5			3		0	0	0.004672	0	0
FAT3	120114	broad.mit.edu	37	11	92087984	92087984	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:92087984G>A	uc001pdj.4	+	0	2723	c.2706G>A	c.(2704-2706)ttG>ttA	p.L902L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	902	Cadherin 8.				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)				ATTATTCTTTGAAAATAGAAG	0.438000										TCGA Ovarian(4;0.039)				326			114		0	0	0.014410	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22761	22761	+	RNA	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrGL000241.1:22761T>A	uc011mgv.2	-	5		c.659A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CATTGTTCTCTTGGTCCAATT	0.333000														51			4		0	0	0.009096	0	0
RALGDS	5900	broad.mit.edu	37	9	135985749	135985749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:135985749G>A	uc004cco.3	-	2	442	c.422C>T	c.(421-423)aCc>aTc	p.T141I	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T141I|RALGDS_uc004ccr.3_Missense_Mutation_p.T140I|RALGDS_uc011mcv.2_Missense_Mutation_p.T124I|RALGDS_uc004ccs.3_Missense_Mutation_p.T86I|RALGDS_uc011mcw.2_Missense_Mutation_p.T212I|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	141	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CAGGAAGATGGTGACGTAGGA	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									28			13		0	0	0.003163	0	0
OGDH	4967	broad.mit.edu	37	7	44746846	44746846	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:44746846C>T	uc003tln.3	+	20	2814	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	OGDH_uc011kbx.2_Silent_p.I881I|OGDH_uc011kby.2_Silent_p.I735I|OGDH_uc003tlp.3_Silent_p.I896I|OGDH_uc011kbz.2_Silent_p.I680I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	885					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGCGGGTGATCCCAGAAGATG	0.562000														39			16		0	0	0.007413	0	0
CPN2	1370	broad.mit.edu	37	3	194062482	194062482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:194062482G>A	uc003fts.3	-	1	1040	c.950C>T	c.(949-951)tCc>tTc	p.S317F	CPN2_uc021xix.1_Missense_Mutation_p.S317F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	317					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)		GAGCATGAGGGAACGCAGGTT	0.572000														26			11		0	0	0.010729	0	0
IGFN1	91156	broad.mit.edu	37	1	201195139	201195139	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:201195139C>T	uc001gwc.3	+	21	10804	c.10674C>T	c.(10672-10674)ctC>ctT	p.L3558L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTCACCCTCCTGGGCATCC	0.662000														34			10		0	0	0.008291	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869685	50869686	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50869685_50869686CC>TT	uc003blb.2	+	11	1631_1632	c.1209_1210CC>TT	c.(1207-1212)gcccgt>gcTTgt	p.R404C	PPP6R2_uc003blc.3_Missense_Mutation_p.R404C|PPP6R2_uc003bky.2_Missense_Mutation_p.R404C|PPP6R2_uc003bla.2_Missense_Mutation_p.R405C|PPP6R2_uc003bkz.2_Missense_Mutation_p.R404C|PPP6R2_uc003bld.2_5'UTR	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	404						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCCACGCTGCCCGTGAGGAGAG	0.574000														50			27		0	0	0.004672	0	0
LAMA4	3910	broad.mit.edu	37	6	112437103	112437103	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:112437103T>C	uc003pvu.2	-	35	5384	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S	LAMA4_uc003pvv.2_Missense_Mutation_p.N1685S|LAMA4_uc003pvt.2_Missense_Mutation_p.N1685S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1692	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTACTCCCCATTGACACTGTG	0.418000														58			27		0	0	0.006320	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904753	73904753	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:73904753G>A	uc011dyh.2	+	14	2819	c.2472G>A	c.(2470-2472)agG>agA	p.R824R	KCNQ5_uc011dyi.2_Silent_p.R815R|KCNQ5_uc010kat.3_Silent_p.R796R|KCNQ5_uc003pgk.3_Silent_p.R805R|KCNQ5_uc011dyj.2_Silent_p.R695R|KCNQ5_uc011dyk.2_Silent_p.R555R	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	805					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCTATGAGGAAAAGCTTTG	0.483000														51			13		0	0	0.002450	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048123	4048123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:4048123G>A	uc002lzh.3	-	2	1457	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	ZBTB7A_uc002lzi.3_Missense_Mutation_p.T461M	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	461					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGGCCCGTGTGCACGCG	0.647000														45			23		0	0	0.012319	0	0
HECW1	23072	broad.mit.edu	37	7	43594324	43594324	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:43594324C>T	uc003tid.1	+	28	5249	c.4644C>T	c.(4642-4644)ctC>ctT	p.L1548L	HECW1_uc011kbi.1_Silent_p.L1514L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1548	HECT.				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						TCGCAGCCCTCCGTGGGAGCA	0.572000														27			10		0	0	0.013537	0	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:98810890G>A	uc002syo.3	+	11	1936	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	558	VWFA.							p.R557L(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000														129			46		0	0	0.014410	0	0
TUBB3	10381	broad.mit.edu	37	16	90001825	90001825	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:90001825C>T	uc002fpf.2	+	4	2415	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	TUBB3_uc010ciz.1_Silent_p.S250S|TUBB3_uc002fph.2_Silent_p.S322S|TUBB3_uc002fpj.1_Silent_p.S250S|TUBB3_uc002fpk.1_Silent_p.S176S	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	322					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCGCATGTCCATGAAGGAGG	0.617000														49			21		0	0	0.010504	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316099	73316099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:73316099G>A	uc002siu.4	-	1	1017	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RAB11FIP5_uc002sit.4_Missense_Mutation_p.S181F	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	259					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGGCTGAGGACAGGGTGCT	0.637000														32			11		0	0	0.013537	0	0
KRT8	3856	broad.mit.edu	37	12	53291219	53291219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53291219G>A	uc009zmk.1	-	8	1549	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	KRT8_uc001sbd.2_Missense_Mutation_p.P482L|KRT8_uc009zml.1_Missense_Mutation_p.P482L|KRT8_uc009zmm.1_Missense_Mutation_p.P482L	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	482					cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCACTTGGGCAGGACGTC	0.637000														49			15		0	0	0.004990	0	0
ZNF208	7757	broad.mit.edu	37	19	22155388	22155388	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:22155388C>A	uc021urr.1	-	3	2597	c.2448G>T	c.(2446-2448)aaG>aaT	p.K816N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGACCTTACTAAAGG	0.368000														41			6		0.00116845	0.00313182	0.001168	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698712	17698712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:17698712G>A	uc002rcl.1	-	0	995	c.971C>T	c.(970-972)tCc>tTc	p.S324F	RAD51AP2_uc010exn.1_Missense_Mutation_p.S315F	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	324										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATAACATTTGGAAAAAATGTT	0.343000														31			12		0	0	0.002450	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406690	33406690	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:33406690C>T	uc011dri.2	+	9	1865	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	SYNGAP1_uc003oeo.1_Missense_Mutation_p.S542F|SYNGAP1_uc010juy.3_Missense_Mutation_p.S542F|SYNGAP1_uc010juz.3_Missense_Mutation_p.S269F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	557	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.S556S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTGGTCAACTCCCACTGGTGA	0.562000														82			23		0	0	0.004656	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915071	80915071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:80915071G>A	uc002kgg.1	-	9	930	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	B3GNTL1_uc002kgf.1_Missense_Mutation_p.H195Y|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	306							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GAGTCCTCGTGGCAATAGAAG	0.632000														68			51		0	0	0.014410	0	0
TGM3	7053	broad.mit.edu	37	20	2297783	2297783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:2297783C>T	uc002wfx.4	+	5	836	c.739C>T	c.(739-741)Cca>Tca	p.P247S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	247					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|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)	TGGCCGGGACCCAAGGAGCTG	0.547000														66			11		0	0	0.008291	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:169099072C>T	uc011bpj.1	-	1	681	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_uc003ffl.2_Missense_Mutation_p.G65E|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G93E|MECOM_uc011bpl.1_Missense_Mutation_p.G93E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	93							sequence-specific DNA binding transcription factor activity	p.K92E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCCATATTCCTAGTCCTGC	0.483000														72			24		0	0	0.002780	0	0
TAF2	6873	broad.mit.edu	37	8	120774830	120774830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:120774830G>A	uc003you.3	-	18	2653	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	795					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTGCACGATAATAGTTA	0.318000														19			17		0	0	0.007413	0	0
TRIM62	55223	broad.mit.edu	37	1	33625297	33625297	+	Silent	SNP	C	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:33625297C>G	uc001bxb.3	-	2	1391	c.753G>C	c.(751-753)ctG>ctC	p.L251L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	251						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				ACCGCTCGGACAGTGAGGCCA	0.682000														21			6		0	0	0.001168	0	0
NUP188	23511	broad.mit.edu	37	9	131735486	131735486	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:131735486C>T	uc004bws.1	+	11	1183	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	387					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.S386S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTCTCTTTCGTTCTGACCT	0.502000														36			9		0	0	0.006214	0	0
MYH8	4626	broad.mit.edu	37	17	10299903	10299903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10299903C>T	uc002gmm.2	-	31	4590	c.4495G>A	c.(4495-4497)Gaa>Aaa	p.E1499K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1499					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CTTAGCGTTTCGAGTTGATCC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					23			8		0	0	0.003080	0	0
GPM6A	2823	broad.mit.edu	37	4	176594872	176594872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:176594872C>T	uc003iuf.3	-	2	1150	c.346G>A	c.(346-348)Gat>Aat	p.D116N	GPM6A_uc011ckj.2_Missense_Mutation_p.D109N|GPM6A_uc003iug.3_Missense_Mutation_p.D116N|GPM6A_uc003iuh.3_Missense_Mutation_p.D105N	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	116						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTTTGAAATCCCCATAGAGA	0.438000														20			6		0	0	0.001984	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962840	73962840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:73962840C>T	uc004eby.3	-	2	2169	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	518					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation 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						TCATCATCTTCCTCTTTGGAA	0.378000														12			7		0	0	0.006214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722087	50722087	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50722087G>A	uc003bkv.4	-	14	2607	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	838	IPT/TIG 1.				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)		CGGCCACAGAGATCCTCTGGA	0.642000														17			5		0	0	0.000602	0	0
DNAJC13	23317	broad.mit.edu	37	3	132165331	132165331	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:132165331C>T	uc003eor.3	+	2	146	c.81C>T	c.(79-81)gtC>gtT	p.V27V	DNAJC13_uc010htq.2_Silent_p.V27V	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	27							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						ATAAGCGTGTCTTTTCAGTTG	0.294000														28			11		0	0	0.002450	0	0
ODZ4	26011	broad.mit.edu	37	11	78399181	78399181	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:78399181G>A	uc001ozl.4	-	28	5641	c.5178C>T	c.(5176-5178)gtC>gtT	p.V1726V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1726					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCTCTACCTGGACATGCACTG	0.547000														108			39		0	0	0.005524	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869886	22869886	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:22869886C>T	uc002zwe.3	-	1	322	c.69G>A	c.(67-69)agG>agA	p.R23R	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.R23R	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CATCCTCCTCCCTTTGTTTGG	0.383000														63			15		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140767862	140767862	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140767862C>T	uc003lkc.2	+	0	411	c.411C>T	c.(409-411)tcC>tcT	p.S137S	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_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	137	Cadherin 2.				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)			CGCAAAATTCCTTTGAGCTGC	0.433000														17			8		0	0	0.008291	0	0
SCN3A	6328	broad.mit.edu	37	2	165987886	165987886	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:165987886G>A	uc002ucx.3	-	15	2925	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	SCN3A_uc002ucy.3_Silent_p.I762I|SCN3A_uc002ucz.3_Silent_p.I762I|SCN3A_uc002uda.1_Silent_p.I631I|SCN3A_uc002udb.1_Silent_p.I631I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	811						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)	CCATGGCAATGATCTTGAGAA	0.388000														57			21		0	0	0.002780	0	0
CA4	762	broad.mit.edu	37	17	58235079	58235079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:58235079G>A	uc002iym.4	+	4	537	c.443G>A	c.(442-444)gGg>gAg	p.G148E	CA4_uc010wou.2_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	148					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAAGAGAAGGGGACATCGAGG	0.587000														58			12		0	0	0.013537	0	0
OR6C70	390327	broad.mit.edu	37	12	55863458	55863458	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:55863458G>A	uc010spn.2	-	0	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TCAGTGGAGTGAAAATGATCA	0.368000														29			11		0	0	0.010729	0	0
FCAR	2204	broad.mit.edu	37	19	55401052	55401052	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55401052C>T	uc002qhr.1	+	4	884	c.687C>T	c.(685-687)atC>atT	p.I229I	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.I180I|FCAR_uc010esi.1_Silent_p.I106I|FCAR_uc002qhu.1_Silent_p.I133I|FCAR_uc002qhv.1_Silent_p.I207I|FCAR_uc002qhw.1_Silent_p.I217I|FCAR_uc002qhx.1_Silent_p.I121I|FCAR_uc002qhy.1_Silent_p.I195I|FCAR_uc002qhz.1_Missense_Mutation_p.P193S|FCAR_uc002qia.1_Silent_p.I120I	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	229					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)		AGAACTTGATCCGCATGGCCG	0.532000														307			63		0	0	0.014410	0	0
CAMKV	79012	broad.mit.edu	37	3	49899749	49899749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:49899749C>T	uc003cxt.1	-	1	266	c.73G>A	c.(73-75)Gat>Aat	p.D25N	CAMKV_uc011bcy.1_Intron|CAMKV_uc003cxv.1_Missense_Mutation_p.D25N|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.D25N|CAMKV_uc011bcz.1_Missense_Mutation_p.M1I|CAMKV_uc011bda.1_Missense_Mutation_p.D25N|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	25	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTCCCAAATCATATCTGTCA	0.577000														30			8		0	0	0.003080	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814813	92814813	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:92814813C>T	uc001tcb.1	-	2	281	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	93								p.D92N(1)		large_intestine(1)|lung(7)	8						CTTCCTTCTTCCCATCATCAT	0.428000														171			48		0	0	0.014410	0	0
KLK2	3817	broad.mit.edu	37	19	51379954	51379954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:51379954G>A	uc002ptv.3	+	2	474	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KLK2_uc010eog.3_Missense_Mutation_p.E43K|KLK2_uc010yck.2_Missense_Mutation_p.E145K|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.E128K|KLK2_uc010ycm.2_Missense_Mutation_p.E43K|KLK2_uc002ptu.3_Missense_Mutation_p.E145K	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	145	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCCACCCAGGAGCCAGCACT	0.617000			T	ETV4	prostate									16			11		0	0	0.010729	0	0
DENND2C	163259	broad.mit.edu	37	1	115078781	115078781	+	RNA	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:115078781C>T	uc001eez.3	-	28		c.4862G>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		CCCAGCTTCCCAATCGGTGGA	0.507000														12			10		0	0	0.010729	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658823	113658823	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:113658823C>T	uc003eaq.4	+	15	1858	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Silent_p.L427L|GRAMD1C_uc003eas.3_Silent_p.L389L|GRAMD1C_uc003eat.3_Silent_p.L253L	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	594						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCTCCGCCTCCAAGAAGAGA	0.378000														32			20		0	0	0.012319	0	0
PGK2	5232	broad.mit.edu	37	6	49754580	49754580	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:49754580G>A	uc003ozu.3	-	0	474	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	107					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGTTGGCACAGGCTTTCTCCA	0.507000														48			21		0	0	0.002780	0	0
MYO18B	84700	broad.mit.edu	37	22	26168458	26168458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:26168458C>T	uc003abz.1	+	6	2100	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L	MYO18B_uc003aca.1_Missense_Mutation_p.S498L|MYO18B_uc010guy.1_Missense_Mutation_p.S498L|MYO18B_uc010guz.1_Missense_Mutation_p.S498L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.S130L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	617	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGGGCCCTCGGTGCCTTCT	0.642000														26			5		0	0	0.000602	0	0
DRAM1	55332	broad.mit.edu	37	12	102295101	102295101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:102295101G>A	uc001tix.3	+	2	695	c.232G>A	c.(232-234)Gta>Ata	p.V78I	DRAM1_uc010svv.2_Missense_Mutation_p.V78I	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	78					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ATACAAAATAGTACAGAAGCA	0.393000														20			13		0	0	0.001855	0	0
ASS1	445	broad.mit.edu	37	9	133342128	133342128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:133342128G>A	uc010mza.3	+	6	1173	c.665G>A	c.(664-666)aGg>aAg	p.R222K	ASS1_uc004bzm.3_Missense_Mutation_p.R146K|ASS1_uc004bzn.3_Missense_Mutation_p.R146K	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	146					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCTCCCTGGAGGATGCCTGAA	0.597000														20			8		0	0	0.006214	0	0
ABCA12	26154	broad.mit.edu	37	2	215854087	215854087	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:215854087G>A	uc002vew.3	-	25	4015	c.3795C>T	c.(3793-3795)ttC>ttT	p.F1265F	ABCA12_uc002vev.3_Silent_p.F947F|ABCA12_uc010zjn.2_Silent_p.F192F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1265					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGCAATAAGGAAATAAATGA	0.403000														30			6		0	0	0.001168	0	0
IGSF21	84966	broad.mit.edu	37	1	18703297	18703297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:18703297G>A	uc001bau.2	+	7	1488	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	IGSF21_uc001bav.2_Missense_Mutation_p.E190K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	369	Ig-like 2.			E -> G (in Ref. 1; BAC11542).		extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCAACAGAACGAAGTCTTCCC	0.657000														13			11		0	0	0.010729	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262123	140262123	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140262123C>T	uc003lif.2	+	0	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.I90I|PCDHAC2_uc003lid.3_Silent_p.I90I	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	105	Cadherin 1.				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)			ATTCTCGGATCGACCGCGAGG	0.592000														154			35		0	0	0.006999	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899544	156899544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156899544C>T	uc003lwx.4	+	5	1093	c.977C>T	c.(976-978)cCc>cTc	p.P326L	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.P307L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	326						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CACCCGCTCCCCTACATCCTG	0.577000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			37		0	0	0.004878	0	0
BIRC3	330	broad.mit.edu	37	11	102207729	102207729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:102207729C>T	uc001pgx.3	+	8	4506	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	571					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGTGTTTATTCCTTGTGGTCA	0.383000			T	MALT1	MALT									25			8		0	0	0.003080	0	0
BSPRY	54836	broad.mit.edu	37	9	116131915	116131915	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:116131915C>T	uc004bhg.4	+	5	750	c.702C>T	c.(700-702)atC>atT	p.I234I	BSPRY_uc010muw.3_Nonsense_Mutation_p.R193*	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	234	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ACATACGGATCGATGAGAGGA	0.562000														44			17		0	0	0.012319	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568275	140568275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140568275G>A	uc003liw.1	+	1	1381	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGGGAGAACAACAG	0.627000														97			36		0	0	0.004289	0	0
CACNA1E	777	broad.mit.edu	37	1	181762858	181762858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:181762858C>T	uc009wxt.3	+	44	6151	c.5956C>T	c.(5956-5958)Cct>Tct	p.P1986S	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1986					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						CATCTACCTTCCTTCGGACAC	0.507000														9			6		0	0	0.001984	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:48346753C>T	uc010rhv.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	60					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						TGTATTTTTTCCTGGCCAACC	0.453000														69			6		0	0	0.001168	0	0
ZNF208	7757	broad.mit.edu	37	19	22156029	22156029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:22156029G>A	uc021urr.1	-	3	1956	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACCAGTATGAATTCTCTTA	0.358000														23			9		0	0	0.006214	0	0
ENTPD1	953	broad.mit.edu	37	10	97604314	97604314	+	Silent	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:97604314T>C	uc010qoj.2	+	4	594	c.531T>C	c.(529-531)ggT>ggC	p.G177G	ENTPD1_uc001kle.1_Silent_p.G172G|ENTPD1_uc001kli.4_Silent_p.G172G|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Silent_p.G57G|ENTPD1_uc010qol.2_Silent_p.G57G|ENTPD1_uc001klh.4_Silent_p.G165G|ENTPD1_uc010qom.2_Silent_p.G165G|ENTPD1_uc010qon.2_Silent_p.G27G|ENTPD1_uc009xva.3_Silent_p.G27G	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	165					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACTTCCAGGGTGCCAGGATCA	0.498000														79			35		0	0	0.004878	0	0
ZNF529	57711	broad.mit.edu	37	19	37037968	37037968	+	Silent	SNP	T	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:37037968T>G	uc002oeh.4	-	4	1694	c.1492A>C	c.(1492-1494)Aga>Cga	p.R498R	ZNF529_uc010xth.2_Silent_p.R498R|ZNF529_uc010xti.2_Silent_p.R480R|ZNF529_uc002oeg.4_Silent_p.R393R	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					GTATGAATTCTCTGATGTTCT	0.398000														22			8		0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27801614	27801614	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27801614G>A	uc002rkz.4	+	0	2226	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	725										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TACAAGTAGGGACTGACTTCT	0.433000														51			17		0	0	0.004990	0	0
TTYH2	94015	broad.mit.edu	37	17	72256272	72256272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:72256272C>T	uc002jkc.3	+	13	1560	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F	TTYH2_uc010wqw.2_Missense_Mutation_p.S489F|TTYH2_uc002jkd.3_Missense_Mutation_p.S189F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	510						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGCAGTACTCTCCCAGCATG	0.582000														133			41		0	0	0.011902	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777798	110777798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:110777798G>A	uc003puf.3	-	1	543	c.476C>T	c.(475-477)cCc>cTc	p.P159L	SLC22A16_uc003pue.3_Missense_Mutation_p.P140L|SLC22A16_uc003pug.3_Missense_Mutation_p.P159L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	159					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATAAATAGGGGCTGGATCAG	0.443000														46			18		0	0	0.006122	0	0
POP1	10940	broad.mit.edu	37	8	99168559	99168559	+	Missense_Mutation	SNP	C	T	T	rs149744031	byFrequency	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:99168559C>T	uc003yij.4	+	14	2439	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	POP1_uc011lgv.2_Missense_Mutation_p.S780L|POP1_uc003yik.3_Missense_Mutation_p.S780L	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	780					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGTCAAGAATCGGCAGGGCCT	0.542000														88			41		0	0	0.013114	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747054	81747054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:81747054G>A	uc001szo.2	-	16	1999	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P539L|PPFIA2_uc021rbh.1_Missense_Mutation_p.P514L|PPFIA2_uc021rbi.1_Missense_Mutation_p.P613L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P613L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P595L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P613L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P180L|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	539										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTTTCAAAAGGGTGGCTGCT	0.393000														38			13		0	0	0.004007	0	0
MYH2	4620	broad.mit.edu	37	17	10440988	10440988	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10440988G>A	uc010coi.3	-	14	1709	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I527I|MYH2_uc010coj.3_Silent_p.I527I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	527	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACCTTCTCGATGAGCTCGA	0.428000														74			21		0	0	0.005443	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901934	186901934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:186901934C>T	uc001gsc.3	+	7	803	c.598C>T	c.(598-600)Cga>Tga	p.R200*	PLA2G4A_uc010pos.2_Nonsense_Mutation_p.R140*	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	200	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGGGGGTTTCCGAGCCATGGT	0.458000														100			31		0	0	0.012213	0	0
ATG9B	285973	broad.mit.edu	37	7	150715841	150715841	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:150715841G>A	uc011kvc.2	-	5	1660	c.1584C>T	c.(1582-1584)gcC>gcT	p.A528A	ATG9B_uc003wig.4_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	528					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGGCGGGCCAGCAGCG	0.746000														8			4		0	0	0.000602	0	0
NTN4	59277	broad.mit.edu	37	12	96131685	96131685	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:96131685G>A	uc001tei.3	-	2	1272	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	NTN4_uc009ztf.3_Missense_Mutation_p.H275Y|NTN4_uc009ztg.3_Missense_Mutation_p.H238Y	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	275	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGAAGCCATGAACAGGTATG	0.453000														40			22		0	0	0.002780	0	0
PYDC2	152138	broad.mit.edu	37	3	191178959	191178959	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:191178959C>A	uc011bso.2	+	0	8	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	3	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGATGGCATCTTCTGCAGAG	0.453000														58			17		8.10497e-08	2.22094e-07	0.010504	1	0
TMEM74	157753	broad.mit.edu	37	8	109797318	109797318	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:109797318G>A	uc003ymy.1	-	1	115	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.H4Y	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	4					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCAAGGTAGTGGAGCTCCATG	0.527000														54			6		0	0	0.001984	0	0
GPR20	2843	broad.mit.edu	37	8	142367222	142367222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:142367222G>A	uc022bby.1	-	0	802	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	GPR20_uc003ywf.3_Missense_Mutation_p.P268S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	268						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGCATGTCGGGCCACAGCGCC	0.652000														20			33		0	0	0.012213	0	0
ZNF418	147686	broad.mit.edu	37	19	58437835	58437835	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:58437835C>G	uc002qqs.1	-	3	2006	c.1714G>C	c.(1714-1716)Ggg>Cgg	p.G572R	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.G487R	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G572V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AAGAATTTCCCACATTCTCTG	0.443000														31			16		0	0	0.004007	0	0
FAM71B	153745	broad.mit.edu	37	5	156590262	156590262	+	Silent	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156590262T>A	uc003lwn.3	-	1	1114	c.1014A>T	c.(1012-1014)tcA>tcT	p.S338S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	338						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATACCCTCTGAGGATATGT	0.572000														333			106		0	0	0.014410	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331168	55331168	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55331168G>A	uc002qhl.4	+	4	419	c.356_splice	c.e4-1	p.G119_splice	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Splice_Site_p.G119_splice|KIR3DL2_uc010esf.3_Splice_Site_p.G24_splice|KIR3DL2_uc021vbo.1_Splice_Site_p.G119_splice|KIR3DL2_uc002qhk.4_Splice_Site_p.G119_splice			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	119					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTCTTTCTAGGAAACCACAGA	0.502000														42			16		0	0	0.009535	0	0
MKL1	57591	broad.mit.edu	37	22	40819558	40819558	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:40819558G>A	uc003ayv.1	-	5	816	c.609C>T	c.(607-609)tcC>tcT	p.S203S	MKL1_uc010gyf.1_Intron|MKL1_uc003ayw.1_Silent_p.S203S|MKL1_uc010gye.1_Silent_p.S203S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	203	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGTGGGGGTGGACTTGGCAG	0.572000			T	RBM15	acute megakaryocytic leukemia									35			14		0	0	0.001855	0	0
SCAND3	114821	broad.mit.edu	37	6	28543318	28543318	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:28543318C>T	uc003nlo.3	-	2	1782	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	388	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G388W(1)		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						ATCTGTACTCCCCATCAGGAT	0.343000														47			14		0	0	0.001855	0	0
GPNMB	10457	broad.mit.edu	37	7	23293870	23293870	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:23293870C>T	uc003swc.3	+	2	467	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GPNMB_uc003swa.2_Silent_p.F102F|GPNMB_uc003swb.3_Silent_p.F102F|GPNMB_uc011jyy.2_Silent_p.F102F|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	102					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACCTGATATTCCCTAGATGCC	0.473000														95			44		0	0	0.011902	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508607	95508607	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:95508607G>C	uc003ygo.2	-	17	4403	c.4332C>G	c.(4330-4332)agC>agG	p.S1444R	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1444					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCTTCTTTGCTTTGTAGAA	0.388000														35			11		0	0	0.010729	0	0
LARP1B	55132	broad.mit.edu	37	4	129043225	129043225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:129043225C>T	uc003iga.3	+	10	1537	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	LARP1B_uc003igc.3_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.T469I|LARP1B_uc003igb.1_Missense_Mutation_p.T184I	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	469							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CGAACAGGCACCCACATGTCT	0.373000														28			11		0	0	0.010729	0	0
ANO4	121601	broad.mit.edu	37	12	101520699	101520699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:101520699C>T	uc010svm.1	+	26	3291	c.2719C>T	c.(2719-2721)Cca>Tca	p.P907S	ANO4_uc001thw.2_Missense_Mutation_p.P872S|ANO4_uc001thx.2_Missense_Mutation_p.P907S|ANO4_uc001thy.2_Missense_Mutation_p.P427S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	907						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						ATATCTGATCCCAGACCTCCC	0.443000										HNSCC(74;0.22)				26			5		0	0	0.000602	0	0
WWC1	23286	broad.mit.edu	37	5	167882460	167882460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:167882460C>T	uc003lzu.3	+	18	2851	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	WWC1_uc003lzv.3_Nonsense_Mutation_p.R920*|WWC1_uc011den.2_Nonsense_Mutation_p.R920*|WWC1_uc003lzw.3_Nonsense_Mutation_p.R719*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R192*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	920	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCCATTTCTTCGAGGGAGCAC	0.642000														91			33		0	0	0.003271	0	0
EPPK1	83481	broad.mit.edu	37	8	144946505	144946505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:144946505G>A	uc003zaa.1	-	0	930	c.917C>T	c.(916-918)aCc>aTc	p.T306I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGCTCGGTGGCAGCCTG	0.682000														147			29		0	0	0.003271	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr21:42080489G>A	uc002yyq.1	-	1	704	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	84	Ig-like C2-type 1.				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)				GAGGGAAGGGGAAAATTTGGA	0.498000														46			18		0	0	0.007413	0	0
AMHR2	269	broad.mit.edu	37	12	53818965	53818965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53818965G>A	uc001scx.2	+	3	521	c.441G>A	c.(439-441)atG>atA	p.M147I	AMHR2_uc009zmy.2_Missense_Mutation_p.M147I|AMHR2_uc021qyg.1_Missense_Mutation_p.M147I	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	147					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCATCTGGATGGCACTGGTGC	0.587000														67			25		0	0	0.009535	0	0
ACE	1636	broad.mit.edu	37	17	61571304	61571304	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61571304T>C	uc002jau.2	+	20	3192	c.3158T>C	c.(3157-3159)aTg>aCg	p.M1053T	ACE_uc010wpj.2_Missense_Mutation_p.M479T|ACE_uc010ddv.2_Missense_Mutation_p.M280T|ACE_uc002jav.2_Missense_Mutation_p.M479T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.M299T	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1053	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACTTTCTGATGAAGATGGCC	0.552000														46			16		0	0	0.010504	0	0
MBL2	4153	broad.mit.edu	37	10	54531368	54531368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:54531368G>A	uc001jjt.3	-	0	93	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	10					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTCAGGAGAAGGAGAGGGAGT	0.498000														8			3		0	0	0.004672	0	0
GEM	2669	broad.mit.edu	37	8	95265294	95265294	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:95265294C>T	uc003ygi.3	-	2	502	c.378G>A	c.(376-378)acG>acA	p.T126T	GEM_uc003ygj.3_Silent_p.T126T	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	126					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGAGTATAATCGTTGCACTTT	0.418000														49			32		0	0	0.004878	0	0
MTUS1	57509	broad.mit.edu	37	8	17581343	17581343	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:17581343C>T	uc003wxv.3	-	4	2762	c.2288_splice	c.e4-1	p.G763_splice	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Splice_Site|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Intron	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	763						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTAGGCTTTCCTTGGGGTTTA	0.423000														54			20		0	0	0.008871	0	0
HEATR8	374977	broad.mit.edu	37	1	55161093	55161093	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:55161093A>G	uc010ooe.1	+	16	3218	c.2894A>G	c.(2893-2895)tAc>tGc	p.Y965C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.Y483C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.Y965C|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.Y167C|HEATR8_uc001cxu.3_Missense_Mutation_p.Y111C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	965						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGCATCCTCTACCTGCTCATC	0.662000														7			3		0	0	0.009096	0	0
SVEP1	79987	broad.mit.edu	37	9	113169591	113169591	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:113169591C>T	uc010mtz.3	-	37	8626	c.8289G>A	c.(8287-8289)tgG>tgA	p.W2763*	SVEP1_uc010mty.3_Nonsense_Mutation_p.W689*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2763	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGCACCACTCCACTTTCTAT	0.463000														66			21		0	0	0.008871	0	0
NLRP13	126204	broad.mit.edu	37	19	56443602	56443602	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:56443602G>A	uc010ygg.2	-	0	101	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	26	DAPIN.						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)		AGCTGATACTGATCCAGGGCC	0.552000														52			16		0	0	0.007413	0	0
OR4N2	390429	broad.mit.edu	37	14	20296402	20296402	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:20296402C>T	uc010tkv.2	+	0	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A264S(1)		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)		TCAGGGCTTTCCCAGCTGACA	0.453000														23			19		0	0	0.014323	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157834	26157834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:26157834G>A	uc022bub.1	+	0	732	c.732G>A	c.(730-732)atG>atA	p.M244I	MAGEB18_uc004dbq.2_Missense_Mutation_p.M244I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	244	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGAAGGTCATGACCAAAGATT	0.512000														12			4		0	0	0.000602	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507410	74507410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:74507410C>T	uc001dfy.4	-	6	1397	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	402								p.R402Q(4)|p.R402W(1)|p.R402R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCATACTCCGCTCCAATCG	0.353000														26			11		0	0	0.010729	0	0
PDK3	5165	broad.mit.edu	37	X	24546235	24546235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:24546235C>T	uc004dbg.3	+	8	1124	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	PDK3_uc004dbh.3_Missense_Mutation_p.R299C	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	299	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R299C(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAAATAGATCGTCTTTTTAA	0.423000														30			7		0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640113	176640113	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:176640113A>G	uc001gkz.3	+	3	3163	c.1999A>G	c.(1999-2001)Atg>Gtg	p.M667V	PAPPA2_uc001gky.1_Missense_Mutation_p.M667V|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	667	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TAGGGCATACATGAGTGTGAA	0.483000														140			44		0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69104649	69104649	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:69104649G>C	uc003xxv.1	+	36	4520	c.4493G>C	c.(4492-4494)tGt>tCt	p.C1498S		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1498					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.C1498C(1)		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						ACAGCTGCCTGTGCAAACACA	0.527000														31			3		0	0	0.004672	0	0
MARCH6	10299	broad.mit.edu	37	5	10415637	10415637	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:10415637G>A	uc003jet.1	+	20	2187	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	MARCH6_uc011cmu.1_Silent_p.G620G|MARCH6_uc003jeu.1_Silent_p.G366G|MARCH6_uc011cmv.1_Silent_p.G563G	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	668					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.T667T(1)|p.T667M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGGACGGGGACTGCCAAAA	0.463000														81			29		0	0	0.008361	0	0
SGIP1	84251	broad.mit.edu	37	1	67194951	67194951	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:67194951A>T	uc001dcr.3	+	19	1964	c.1747A>T	c.(1747-1749)Atc>Ttc	p.I583F	SGIP1_uc010opd.2_Missense_Mutation_p.I183F|SGIP1_uc001dcs.3_Missense_Mutation_p.I183F|SGIP1_uc001dct.3_Missense_Mutation_p.I185F|SGIP1_uc009wat.3_Missense_Mutation_p.I377F|SGIP1_uc001dcu.3_Missense_Mutation_p.I88F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	583					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid 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						TGCCAGATGTATCGTTAAGAT	0.423000														22			9		0	0	0.008291	0	0
OR8B8	26493	broad.mit.edu	37	11	124310859	124310859	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:124310859C>T	uc010sal.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	41					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)		AGCCCAGGTTCCCCACCACAG	0.488000														44			25		0	0	0.004656	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535284	90535284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:90535284G>A	uc010mqi.3	+	3	491	c.462G>A	c.(460-462)atG>atA	p.M154I	FAM75C1_uc004apq.4_Missense_Mutation_p.M137I	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		ATGAGCCTATGGAAGATGCTG	0.577000														116			41		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179457686	179457686	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179457686C>T	uc021vsy.1	-	248	51681	c.51456G>A	c.(51454-51456)caG>caA	p.Q17152Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Q10847Q|TTN_uc021vta.1_Silent_p.Q10780Q|TTN_uc021vtb.1_Silent_p.Q10655Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18079	Fibronectin type-III 24.						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)			CTCCAACTTTCTGGTACTCAA	0.448000														149			52		0	0	0.014410	0	0
BTBD16	118663	broad.mit.edu	37	10	124043405	124043405	+	Silent	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:124043405T>C	uc001lgc.1	+	3	458	c.207T>C	c.(205-207)aaT>aaC	p.N69N	BTBD16_uc001lgd.1_Silent_p.N68N	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	69										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCTTTGAGAATTTCAAGAACA	0.378000														10			4		0	0	0.001168	0	0
FZD1	8321	broad.mit.edu	37	7	90895683	90895683	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:90895683C>T	uc003ula.3	+	0	1901	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	496					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCCCCTCTTCGTGTACCTGT	0.622000														120			46		0	0	0.014410	0	0
MAP3K3	4215	broad.mit.edu	37	17	61730009	61730009	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61730009A>G	uc002jbg.3	+	3	579	c.260A>G	c.(259-261)aAc>aGc	p.N87S	MAP3K3_uc002jbe.3_Missense_Mutation_p.N118S|MAP3K3_uc002jbf.3_Missense_Mutation_p.N118S|MAP3K3_uc002jbh.3_Missense_Mutation_p.N118S|MAP3K3_uc010wpo.2_Missense_Mutation_p.N2S|MAP3K3_uc010wpp.2_Missense_Mutation_p.N87S	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	87	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATTACATGAACAATGAGGTG	0.443000														16			4		0	0	0.009096	0	0
COL13A1	1305	broad.mit.edu	37	10	71665557	71665557	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:71665557C>T	uc001jql.3	+	16	1466	c.930C>T	c.(928-930)atC>atT	p.I310I	COL13A1_uc021prz.1_Silent_p.I288I|COL13A1_uc021psa.1_Silent_p.I253I|COL13A1_uc021psb.1_Silent_p.I259I|COL13A1_uc001jqk.2_Silent_p.I288I|COL13A1_uc021psc.1_Silent_p.I291I|COL13A1_uc021psd.1_Silent_p.I288I|COL13A1_uc010qjf.2_Silent_p.I253I|COL13A1_uc021pse.1_Silent_p.I259I|COL13A1_uc021psf.1_Silent_p.I310I|COL13A1_uc021psg.1_Silent_p.I288I|COL13A1_uc021psh.1_Silent_p.I291I	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	310	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACCCAGGGATCCAGGGCTACC	0.552000														9			4		0	0	0.000602	0	0
AOAH	313	broad.mit.edu	37	7	36677509	36677509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:36677509C>T	uc022abu.1	-	4	799	c.398G>A	c.(397-399)tGg>tAg	p.W133*	AOAH_uc003tfh.4_Nonsense_Mutation_p.W133*|AOAH_uc011kba.2_Nonsense_Mutation_p.W101*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	133					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAAATTTCCATGTCTCCTA	0.363000														38			5		0	0	0.001168	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147424	62147424	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:62147424C>T	uc001sqw.3	-	3	1945	c.363G>A	c.(361-363)ggG>ggA	p.G121G	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Silent_p.G121G|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	121						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGACTTTATTCCCAGAGGAAC	0.433000														36			14		0	0	0.004007	0	0
CXCR4	7852	broad.mit.edu	37	2	136873378	136873378	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:136873378G>A	uc002tuz.3	-	1	215	c.120C>T	c.(118-120)ttC>ttT	p.F40F	CXCR4_uc002tuy.3_Silent_p.F44F|CXCR4_uc010fnk.3_Silent_p.F25F	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	40					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGGTGGGCAGGAAGATTTTAT	0.453000														56			29		0	0	0.006320	0	0
BCL9	607	broad.mit.edu	37	1	147091450	147091450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:147091450C>T	uc001epq.3	+	7	2229	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	BCL9_uc010ozr.1_Missense_Mutation_p.L423F	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	497	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCAGTGTTCCCTCCAGGACAT	0.587000			T	"""IGH@, IGL@"""	B-ALL									85			23		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:9069754G>A	uc002mkp.3	-	2	17896	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5900	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						TCTGAGTGTGGAAATCTCTGA	0.517000														75			26		0	0	0.008361	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132517	48132517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:48132517C>T	uc001rpz.4	-	24	3032	c.2482G>A	c.(2482-2484)Gga>Aga	p.G828R	AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Missense_Mutation_p.G121R|RAPGEF3_uc001rpx.3_Missense_Mutation_p.G243R|RAPGEF3_uc010sln.2_Missense_Mutation_p.G283R|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.G786R|RAPGEF3_uc009zkq.3_Missense_Mutation_p.G786R	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	786					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.G786R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTGTGGTTTCCCTCATGAATG	0.478000														74			20		0	0	0.003330	0	0
FBXO40	51725	broad.mit.edu	37	3	121342139	121342139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:121342139G>A	uc003eeg.2	+	2	2073	c.1863G>A	c.(1861-1863)tgG>tgA	p.W621*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	621	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTTGCAATGGAAGAAAAAGA	0.458000														43			12		0	0	0.013537	0	0
ADAM29	11086	broad.mit.edu	37	4	175897457	175897457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:175897457G>A	uc003iuc.3	+	4	1451	c.781G>A	c.(781-783)Gat>Aat	p.D261N	ADAM29_uc003iud.3_Missense_Mutation_p.D261N|ADAM29_uc010irr.3_Missense_Mutation_p.D261N|ADAM29_uc011cki.2_Missense_Mutation_p.D261N|ADAM29_uc021xuo.1_Missense_Mutation_p.D261N	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	261	Peptidase M12B.				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)		TGTAGTAGATGATGTAAGGAA	0.388000														45			25		0	0	0.003954	0	0
SAGE1	55511	broad.mit.edu	37	X	134989122	134989122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:134989122G>A	uc004ezh.3	+	7	941	c.774G>A	c.(772-774)atG>atA	p.M258I	SAGE1_uc010nry.1_Missense_Mutation_p.M227I|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	258										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGGAGAAGATGGAAAAGGGCC	0.473000														59			19		0	0	0.007413	0	0
WDR85	92715	broad.mit.edu	37	9	140458908	140458908	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:140458908G>A	uc004cnk.1	-	7	1085	c.927C>T	c.(925-927)atC>atT	p.I309I	WDR85_uc004cnj.1_Silent_p.I38I|WDR85_uc004cnm.1_Silent_p.I70I|WDR85_uc010ncl.1_Silent_p.I70I	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	309					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GGCAGTTGAGGATCTTAAAGC	0.627000														22			6		0	0	0.001168	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838742	16838742	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:16838742G>A	uc010rcu.1	-	10	1486	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	PLEKHA7_uc001mmo.3_Silent_p.L491L|PLEKHA7_uc010rcv.2_Silent_p.L65L|PLEKHA7_uc001mmn.3_Silent_p.L199L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	491					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACTTGGCAGGTTTCGGGGA	0.632000														90			27		0	0	0.009535	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100318	121100318	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:121100318C>T	uc003eec.4	+	22	2738	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S	STXBP5L_uc011bji.2_Silent_p.S842S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	866					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)		TAATCATCTCCTTAAACCTAC	0.413000														89			21		0	0	0.014323	0	0
DLG4	1742	broad.mit.edu	37	17	7096426	7096426	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:7096426C>T	uc010vtn.2	-	15	1784	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.R565R|DLG4_uc002get.4_Silent_p.R611R|DLG4_uc010vto.2_Silent_p.R608R	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	568					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCCGCTTGGGCCGTGTCGTAT	0.532000														93			25		0	0	0.004656	0	0
RABL2B	11158	broad.mit.edu	37	22	51208364	51208364	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:51208364G>A	uc003bnm.1	-	6	749	c.378C>T	c.(376-378)atC>atT	p.I126I	RPL23AP82_uc011asd.2_Intron|RPL23AP82_uc003bni.3_Intron|RABL2B_uc011ase.1_Intron|RABL2B_uc011asf.1_Silent_p.I126I|RABL2B_uc003bnn.1_Silent_p.I126I|RABL2B_uc003bnk.1_Silent_p.I126I|RABL2B_uc003bno.1_Silent_p.I126I|RABL2B_uc011asg.1_Silent_p.I126I|RABL2B_uc003bnl.1_Silent_p.I126I	NM_001130923	NP_001124395	Q9UNT1	RBL2B_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2B (RABL2B), transcript variant 7, mRNA.	126					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGATGCATGGGATCTCTGGCC	0.522000														30			10		0	0	0.010729	0	0
RBP3	5949	broad.mit.edu	37	10	48389649	48389649	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:48389649C>T	uc001jez.3	-	0	1343	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	410	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)	TGGGGCCACCCCTGGTGAGTC	0.657000														18			10		0	0	0.010729	0	0
DSG1	1828	broad.mit.edu	37	18	28906969	28906969	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:28906969G>A	uc002kwp.3	+	3	428	c.216_splice	c.e3+1	p.K72_splice		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	72	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATCGCCAAAGTAGGTATCAA	0.413000														49			10		0	0	0.010729	0	0
LPO	4025	broad.mit.edu	37	17	56326423	56326423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:56326423C>T	uc002ivt.3	+	4	644	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	LPO_uc010dco.2_Missense_Mutation_p.P110S|LPO_uc010wnr.1_Missense_Mutation_p.P27S|LPO_uc010wns.2_Missense_Mutation_p.P51S|LPO_uc010dcp.3_Missense_Mutation_p.P27S|LPO_uc010dcq.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	110					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTTTCAGATCCCAGCCTGGA	0.577000														142			33		0	0	0.004289	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279172	139279172	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:139279172C>T	uc004chh.3	-	13	1429	c.1420_splice	c.e13+1	p.G474_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	474	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCAACTTACCGACACCATAT	0.353000														19			7		0	0	0.001984	0	0
MMP7	4316	broad.mit.edu	37	11	102401358	102401358	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:102401358C>T	uc001phb.3	-	0	121	c.74G>A	c.(73-75)gGa>gAa	p.G25E	MMP7_uc009yxd.3_Missense_Mutation_p.G25E|MMP7_uc010rus.1_Missense_Mutation_p.G25E	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	25					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ACTCATGCCTCCCGCCTCCTG	0.547000														33			14		0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144943375	144943375	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:144943375C>T	uc003zaa.1	-	0	4060	c.4047G>A	c.(4045-4047)caG>caA	p.Q1349Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1349						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCTCGTTCTGTGGCACGA	0.701000														38			7		0	0	0.001984	0	0
ACE	1636	broad.mit.edu	37	17	61555443	61555443	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61555443T>C	uc002jau.2	+	1	435	c.401T>C	c.(400-402)cTg>cCg	p.L134P	ACE_uc010wph.2_Missense_Mutation_p.L134P|ACE_uc010wpi.2_Missense_Mutation_p.L134P|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	134	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCTGCCCCTGGCTAAGCGG	0.677000														8			4		0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21235442	21235442	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:21235442G>A	uc002red.3	-	25	4426	c.4298C>T	c.(4297-4299)tCg>tTg	p.S1433L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1433					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	p.S1433L(2)		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)	TTTGATATTCGAATCTAGAAA	0.368000														379			112		0	0	0.014410	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246117	145246117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:145246117C>T	uc003lns.1	-	1	511	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	171										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AAAGGTCTATCGTGCTGGTCC	0.512000														82			18		0	0	0.007413	0	0
NSL1	25936	broad.mit.edu	37	1	212965138	212965138	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:212965138G>A	uc001hjn.3	-	1	1	c.-33_splice	c.e1-1		NSL1_uc001hjm.3_Splice_Site|NSL1_uc010pti.2_Splice_Site|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.						cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GGCACTCTGGGAGCGGAAAAG	0.622000														13			4		0	0	0.009096	0	0
ABCB4	5244	broad.mit.edu	37	7	87047888	87047888	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:87047888T>A	uc003uiv.1	-	19	2519	c.2443A>T	c.(2443-2445)Aca>Tca	p.T815S	ABCB4_uc003uiw.1_Missense_Mutation_p.T815S|ABCB4_uc003uix.1_Missense_Mutation_p.T815S	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	815	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma 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)					GCAAGTCTTGTAGAAAGTGCA	0.373000														44			18		0	0	0.008871	0	0
OR6F1	343169	broad.mit.edu	37	1	247875287	247875287	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:247875287G>A	uc001idj.1	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	257					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)			GGACGTGAAGGAAAACTGTGG	0.527000														42			17		0	0	0.004007	0	0
UNC5D	137970	broad.mit.edu	37	8	35425736	35425736	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:35425736G>A	uc003xjr.2	+	2	771	c.443G>A	c.(442-444)aGg>aAg	p.R148K	UNC5D_uc003xjs.2_Missense_Mutation_p.R143K	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	148	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity	p.R143M(1)|p.R148C(1)		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)		TCCAAGAGCAGGAAGGCCTCT	0.507000														53			20		0	0	0.010504	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088240	17088240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:17088240C>T	uc002nfb.3	-	14	1869	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	566						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTCCATTCTCCCTGACGTAG	0.592000														50			14		0	0	0.004990	0	0
OR10W1	81341	broad.mit.edu	37	11	58034422	58034422	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:58034422C>T	uc001nmq.1	-	0	1311	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCTAGCTGTTCTGGGAAAGGC	0.478000														56			14		0	0	0.003163	0	0
MYO5B	4645	broad.mit.edu	37	18	47432876	47432876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:47432876C>T	uc002leb.2	-	18	2615	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	776	IQ 1.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R776W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGCCATCCCCGGACAGTTTT	0.592000														42			7		0	0	0.001984	0	0
COL17A1	1308	broad.mit.edu	37	10	105800156	105800156	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:105800156G>T	uc001kxr.3	-	39	2883	c.2714C>A	c.(2713-2715)tCc>tAc	p.S905Y		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	905	Triple-helical region.			S -> F (in Ref. 1; AAA35605 and 2; AAB51499).	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.S905F(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGGGGCCGGAGAGGAAGGT	0.532000														44			23		6.21321e-17	1.71695e-16	0.002780	1	0
EFCAB3	146779	broad.mit.edu	37	17	60484004	60484004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:60484004G>A	uc010wpc.2	+	8	879	c.808G>A	c.(808-810)Gat>Aat	p.D270N	EFCAB3_uc002izu.2_Missense_Mutation_p.D218N	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	218							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GAAAGAAAAGGATTTATTTAA	0.383000														29			6		0	0	0.001984	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997014	62997014	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:62997014C>T	uc001nwr.1	-	0	111	c.111G>A	c.(109-111)ctG>ctA	p.L37L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.L37L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	37					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CGAAGTTCTCCAGCTGAGTTT	0.473000														63			14		0	0	0.001855	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83419362	83419362	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:83419362C>T	uc004eej.2	-	1	151	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	RPS6KA6_uc011mqt.2_Missense_Mutation_p.E39K|RPS6KA6_uc011mqu.2_5'UTR	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	39					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCTCCCTCTTCCATTGGCTCA	0.299000														30			14		0	0	0.004007	0	0
SAMD9	54809	broad.mit.edu	37	7	92733974	92733974	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:92733974C>T	uc003umf.3	-	2	1707	c.1437G>A	c.(1435-1437)acG>acA	p.T479T	SAMD9_uc003umg.3_Silent_p.T479T|SAMD9_uc022ahg.1_Silent_p.T479T	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	479						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGTAGAAATCGTCTCATTTG	0.393000														46			30		0	0	0.012213	0	0
TRA2B	6434	broad.mit.edu	37	3	185638958	185638958	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:185638958C>A	uc003fpv.3	-	5	932	c.656G>T	c.(655-657)cGg>cTg	p.R219L	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.R119L	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	219	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding	p.R219L(2)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAGTAATCCCGACGGCGAGA	0.418000														376			8		0.00307968	0.00823206	0.003080	1	0
HAO1	54363	broad.mit.edu	37	20	7895041	7895041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:7895041C>T	uc002wmw.1	-	2	339	c.315G>A	c.(313-315)atG>atA	p.M105I	HAO1_uc010gbu.3_Missense_Mutation_p.M105I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	105	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACTCAACATCATGCCCGTTC	0.517000														28			10		0	0	0.010729	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000														51			7		0	0	0.004482	0	0
RAD51C	5889	broad.mit.edu	37	17	56787259	56787259	+	Missense_Mutation	SNP	C	T	T	rs28363311		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:56787259C>T	uc002iwu.3	+	4	787	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	RAD51C_uc010woa.1_Missense_Mutation_p.R249C|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	249			R -> C (in dbSNP:rs28363311).		DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.R249C(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTCCATTTCGTCATGACCT	0.333000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					74			48		0	0	0.014410	0	0
FSD1	79187	broad.mit.edu	37	19	4318373	4318373	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:4318373C>T	uc002lzy.2	+	8	983	c.830C>T	c.(829-831)tCc>tTc	p.S277F	FSD1_uc002maa.2_Missense_Mutation_p.S90F	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	277	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCACATCCCACCAGAAC	0.612000														30			9		0	0	0.006214	0	0
HBE1	3046	broad.mit.edu	37	11	5291094	5291094	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5291094C>T	uc001mal.1	-	0	293	c.27G>A	c.(25-27)aaG>aaA	p.K9K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.K9K	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	9					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACGGCAGCCTTCTCCTCAG	0.532000														43			14		0	0	0.004007	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95515008	95515008	+	RNA	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:95515008C>T	uc010fhp.3	-	3		c.443G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CCACCATTTTCTCTTTCTTGC	0.303000														140			29		0	0	0.006230	0	0
C15orf39	56905	broad.mit.edu	37	15	75500361	75500361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:75500361C>T	uc002azp.4	+	1	2292	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	C15orf39_uc002azq.4_Missense_Mutation_p.R658C|C15orf39_uc021sqm.1_Missense_Mutation_p.R417C|C15orf39_uc002azr.4_Missense_Mutation_p.R56C	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	658										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGATCCTCCGTCCGGCACC	0.622000														45			17		0	0	0.006122	0	0
HTR2C	3358	broad.mit.edu	37	X	114141517	114141517	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:114141517G>A	uc004epu.1	+	5	1644	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	HTR2C_uc010nqc.1_Missense_Mutation_p.E306K|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	306					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TATCAACAATGAAAGAAAAGC	0.443000														57			31		0	0	0.007291	0	0
TNR	7143	broad.mit.edu	37	1	175334205	175334205	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:175334205T>C	uc001gkp.1	-	9	2609	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S	TNR_uc009wwu.1_Missense_Mutation_p.N843S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	843	Fibronectin type-III 6.				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)					AGCCACAAGGTTCACAATATA	0.567000														63			20		0	0	0.008871	0	0
FCGBP	8857	broad.mit.edu	37	19	40411742	40411742	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:40411742C>T	uc002omp.4	-	6	3894	c.3886G>A	c.(3886-3888)Gag>Aag	p.E1296K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1296	VWFD 3.					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)			GCCACGTTCTCCTGCAGGACG	0.632000														42			14		0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13792187	13792187	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:13792187G>A	uc003jfd.2	-	49	8406	c.8364C>T	c.(8362-8364)ttC>ttT	p.F2788F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2788	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)					ACACATAATGGAATTTTGCAG	0.443000									Kartagener syndrome					22			11		0	0	0.013537	0	0
BMPER	168667	broad.mit.edu	37	7	34091542	34091542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:34091542C>T	uc011kap.2	+	8	1120	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	249	VWFC 4.				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						GACAATGGATCCTCATTTCTG	0.463000														128			51		0	0	0.014410	0	0
LRRC18	474354	broad.mit.edu	37	10	50121815	50121815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:50121815C>T	uc001jhd.3	-	0	466	c.386G>A	c.(385-387)gGc>gAc	p.G129D	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.G129D	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	129						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTTCAAGCCTAGGTTCAC	0.602000														10			7		0	0	0.001984	0	0
CCDC63	160762	broad.mit.edu	37	12	111319097	111319097	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:111319097G>A	uc001trv.1	+	6	1045	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.E244K|CCDC63_uc001trw.1_Missense_Mutation_p.E199K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	284								p.E284K(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAAAGGGAGGAAGGTACACC	0.502000														15			3		0	0	0.004672	0	0
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:36365501C>T	uc002oce.3	+	8	1290	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	APLP1_uc010xsz.2_Silent_p.I345I|APLP1_uc002ocf.3_Silent_p.I384I|APLP1_uc002ocg.3_Silent_p.I287I|APLP1_uc010xta.2_Silent_p.I378I	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	384					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGCCCTTATCAACGACCAGC	0.662000														74			21		0	0	0.004656	0	0
GAD1	2571	broad.mit.edu	37	2	171715347	171715347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:171715347C>T	uc002ugi.3	+	15	1977	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	GAD1_uc010fqc.3_Missense_Mutation_p.P138S	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	519					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGGTATATTCCACAAAGCCT	0.428000														39			9		0	0	0.010729	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364127	23364127	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:23364127C>T	uc002dln.3	+	2	493	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	106					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			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)	TCCAGGTATTCCAAAATCAAG	0.498000														36			20		0	0	0.014323	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606832	84606832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:84606832C>T	uc004amn.3	+	3	1494	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	483						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GCAGCACATCCATCAGCAGCC	0.453000														40			4		0	0	0.000602	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552143	27552143	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27552143G>A	uc002rju.1	-	13	2314	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GTF3C2_uc010eyy.1_Silent_p.F83F|GTF3C2_uc002rjv.1_Silent_p.F628F|GTF3C2_uc002rjw.1_Silent_p.F628F	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	628						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGACAAGGAAATGGCTGT	0.488000														224			83		0	0	0.014410	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436782	99436782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:99436782G>A	uc003ury.1	+	2	308	c.205G>A	c.(205-207)Gga>Aga	p.G69R	CYP3A43_uc003urx.1_Missense_Mutation_p.G69R|CYP3A43_uc003urz.1_Missense_Mutation_p.G69R|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.T109T|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	69			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TGAAAAATACGGAGAAATGTG	0.368000														54			14		0	0	0.002450	0	0
ZNF232	7775	broad.mit.edu	37	17	5009481	5009481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:5009481G>A	uc002gat.3	-	4	1628	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	ZNF232_uc002gar.1_Missense_Mutation_p.H316Y	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	298					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						TCTCCAGAATGAACTCTCTGG	0.413000														70			28		0	0	0.006320	0	0
NR2F1	7025	broad.mit.edu	37	5	92923685	92923685	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:92923685G>A	uc003kkj.3	+	1	2213	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	NR2F1_uc021ybj.1_Missense_Mutation_p.G125R|NR2F1_uc021ybk.1_Missense_Mutation_p.G151R	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACTCACCAACGGGGACCCCCT	0.607000														37			15		0	0	0.002450	0	0
IL7R	3575	broad.mit.edu	37	5	35876087	35876087	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:35876087T>A	uc003jjs.3	+	7	968	c.879T>A	c.(877-879)aaT>aaA	p.N293K	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	293					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.K292N(1)		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)			CTGTGCAGAATTTAAATGTGA	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							32			4		0	0	0.009096	0	0
THSD7B	80731	broad.mit.edu	37	2	138413086	138413086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:138413086G>A	uc002tva.1	+	20	3871	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		AGACTGTGGGGAAGGAGTTCA	0.478000														11			5		0	0	0.001984	0	0
OR13C4	138804	broad.mit.edu	37	9	107289106	107289106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:107289106G>A	uc011lvn.2	-	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TATCTCAGAGGGTTACAGATG	0.448000														53			18		0	0	0.006122	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459793	107459793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:107459793G>A	uc002tdq.3	-	1	760	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S214F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S214F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	214					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			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						CAGCATTTTGGAAGAGACGTT	0.637000														23			10		0	0	0.008291	0	0
DOPEY1	23033	broad.mit.edu	37	6	83838630	83838630	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:83838630C>T	uc011dyy.2	+	15	1977	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P582S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P573S	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	582					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATGAAAATCCTACTGAAGT	0.358000														29			13		0	0	0.001855	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794562	15794562	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:15794562C>T	uc002nbl.3	+	6	1026	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGATGTGCTTCTGCTGAGCAA	0.438000														86			25		0	0	0.006320	0	0
HPR	3250	broad.mit.edu	37	16	72110817	72110817	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:72110817G>A	uc002fby.3	+	4	914	c.884G>A	c.(883-885)gGc>gAc	p.G295D	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	295	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ACCTGCTATGGCGATGCGGGC	0.557000														38			19		0	0	0.008871	0	0
DBC1	1620	broad.mit.edu	37	9	121929537	121929537	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:121929537T>A	uc004bkc.2	-	7	2567	c.2111A>T	c.(2110-2112)aAt>aTt	p.N704I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	704					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCCAGGCGATTAATTCGGTC	0.557000														61			11		0	0	0.010729	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:151124224G>A	uc004ffi.3	-	6	947	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	298					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)					GATCCAAAAGGAAACCCAGGA	0.512000														45			24		0	0	0.002780	0	0
DNAH8	1769	broad.mit.edu	37	6	38825334	38825334	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:38825334C>T	uc021yzh.1	+	41	5883	c.5774C>T	c.(5773-5775)tCa>tTa	p.S1925L	DNAH8_uc003ooe.2_Missense_Mutation_p.S1708L	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						ACACACGATTCAGAAGAGGCT	0.348000														36			8		0	0	0.006214	0	0
PAX9	5083	broad.mit.edu	37	14	37145435	37145436	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:37145435_37145436TG>AA	uc001wty.4	+	4	1530_1531	c.804_805TG>AA	c.(802-807)tttgtg>ttAAtg	p.268_269FV>LM	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	268					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TGGGCAGTTTTGTGTCAGCATC	0.480000														34			23		0	0	0.004672	0	0
FGG	2266	broad.mit.edu	37	4	155530802	155530802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:155530802C>T	uc003ioj.3	-	5	787	c.646G>A	c.(646-648)Gga>Aga	p.G216R	FGG_uc003iog.3_Missense_Mutation_p.G216R	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	216	Fibrinogen C-terminal.				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACAGTCCATCCATTTCCAGAC	0.388000														23			20		0	0	0.003330	0	0
abParts	0	broad.mit.edu	37	14	106926642	106926642	+	RNA	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:106926642C>T	uc021ser.1	-	324		c.11329G>A								Parts of antibodies, mostly variable regions.																		GTCCAAACTCCATGGTGCGTT	0.498000														48			22		0	0	0.003330	0	0
VIL1	7429	broad.mit.edu	37	2	219305465	219305465	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:219305465G>A	uc002vib.3	+	17	2272	c.2250G>A	c.(2248-2250)gtG>gtA	p.V750V	VIL1_uc010zke.2_Silent_p.V439V|VIL1_uc002via.3_Silent_p.V750V	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	750	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCAAAGTGGACGTGTTCA	0.542000														52			25		0	0	0.006320	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119627	38119627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:38119627G>A	uc003atr.3	+	6	1335	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	TRIOBP_uc003atu.3_Missense_Mutation_p.R183K|TRIOBP_uc003atq.1_Missense_Mutation_p.R355K|TRIOBP_uc003ats.1_Missense_Mutation_p.R183K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	355					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATAACCCCAGAACCTCTTCT	0.582000														82			24		0	0	0.003330	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604234	124604234	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:124604234C>T	uc003pzo.3	+	1	415	c.138C>T	c.(136-138)atC>atT	p.I46I	NKAIN2_uc003pzn.1_Silent_p.I46I|NKAIN2_uc010keq.3_Silent_p.I46I|NKAIN2_uc003pzp.3_Silent_p.I45I|NKAIN2_uc010ker.3_5'UTR|NKAIN2_uc010kep.1_Non-coding_Transcript	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	46						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATTATTATCGTCATTCTTG	0.348000														37			15		0	0	0.003163	0	0
ITGA5	3678	broad.mit.edu	37	12	54799034	54799034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:54799034G>A	uc001sga.3	-	11	1209	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	381					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTGAGGGTAAGGGTGGGCGTG	0.637000														44			13		0	0	0.002450	0	0
HP	3240	broad.mit.edu	37	16	72094728	72094728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:72094728G>A	uc002fbr.4	+	6	1204	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Missense_Mutation_p.G328D|HP_uc021tld.1_Missense_Mutation_p.G328D|HP_uc002fbt.4_Missense_Mutation_p.G328D|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	387	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCTGAGTATGGTGTGTATGTG	0.527000														73			30		0	0	0.007291	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208364	65208364	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:65208364C>T	uc001xhp.2	+	15	2531	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S654F|PLEKHG3_uc001xho.1_Missense_Mutation_p.S710F|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S252F|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S215F	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	710					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCAGCACTCTCCACCCGAGAC	0.567000														36			21		0	0	0.014323	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234338	54234338	+	RNA	SNP	T	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:54234338T>G	uc021van.1	+	0		c.79T>G								Homo sapiens microRNA 518a-1 (MIR518A1), microRNA.																		TGGATTACGGTTTGAGAAAAA	0.478000														54			13		0	0	0.013537	0	0
MYOM2	9172	broad.mit.edu	37	8	2048769	2048769	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:2048769C>T	uc003wpx.4	+	19	2682	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_uc011kwi.2_Silent_p.F273F	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	848	Fibronectin type-III 5.				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)		CTGGATATTTCGTGGACTTCA	0.542000														25			9		0	0	0.006214	0	0
CCDC38	120935	broad.mit.edu	37	12	96311023	96311023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:96311023G>A	uc001tek.2	-	3	422	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	63										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATTCTGGATGAAAAAGTAGT	0.373000														31			7		0	0	0.003080	0	0
SSFA2	6744	broad.mit.edu	37	2	182780777	182780777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:182780777C>T	uc002uoi.3	+	10	2732	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S	SSFA2_uc002uoh.3_Missense_Mutation_p.P804S|SSFA2_uc002uoj.3_Missense_Mutation_p.P804S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P651S|SSFA2_uc002uol.3_Missense_Mutation_p.P651S|SSFA2_uc002uom.3_Missense_Mutation_p.P272S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502000														20			7		0	0	0.004482	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163695	32163695	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:32163695C>G	uc003obb.3	-	29	5670	c.5531G>C	c.(5530-5532)cGg>cCg	p.R1844P	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.R504P|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1844					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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						TGACACCGTCCGTGCGCGCGG	0.731000														77			25		0	0	0.003330	0	0
TRPC6	7225	broad.mit.edu	37	11	101347111	101347111	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:101347111C>T	uc001pgk.4	-	5	2090	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	TRPC6_uc009ywy.3_Silent_p.Q439Q|TRPC6_uc009ywz.1_Silent_p.Q500Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	555					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAATGATGCTCTGGGCTTTGG	0.393000														30			6		0	0	0.001168	0	0
FAM123B	139285	broad.mit.edu	37	X	63410334	63410334	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:63410334G>A	uc022byb.1	-	0	2833	c.2833C>T	c.(2833-2835)Ccc>Tcc	p.P945S	FAM123B_uc004dvo.3_Missense_Mutation_p.P945S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	945					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						AGGGAAAGGGGACTGTCTCGG	0.592000														31			11		0	0	0.013537	0	0
CFB	629	broad.mit.edu	37	6	31896656	31896656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:31896656G>A	uc003nyf.3	+	2	668	c.404G>A	c.(403-405)gGc>gAc	p.G135D	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.G135D|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.G106D|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	149	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGCCCCAACGGCATGTGGGAT	0.622000														223			70		0	0	0.014410	0	0
PLCG1	5335	broad.mit.edu	37	20	39792045	39792045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:39792045G>A	uc002xjp.1	+	8	938	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	PLCG1_uc002xjo.1_Missense_Mutation_p.V273M|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	273					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCGCCTCCAGGTGCAGGAGTT	0.582000														48			14		0	0	0.004007	0	0
PRX	57716	broad.mit.edu	37	19	40901099	40901099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:40901099C>T	uc002onr.3	-	6	3429	c.3160G>A	c.(3160-3162)Ggg>Agg	p.G1054R	PRX_uc002onq.3_Missense_Mutation_p.G915R|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1054					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCACCCTCCCATCCCAGCCC	0.612000														23			8		0	0	0.004482	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959675	45959675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr21:45959675G>A	uc002zfh.1	-	0	404	c.359C>T	c.(358-360)tCa>tTa	p.S120L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	120	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCAGCATGAAGAGGAATC	0.622000														41			13		0	0	0.003163	0	0
HSPA5	3309	broad.mit.edu	37	9	128000451	128000451	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:128000451A>T	uc004bpn.3	-	6	1632	c.1371T>A	c.(1369-1371)aaT>aaA	p.N457K		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	457					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CAGTTGGTTGATTATCAGAAG	0.393000										Prostate(1;0.17)				45			13		0	0	0.002450	0	0
QRICH2	84074	broad.mit.edu	37	17	74273322	74273322	+	Silent	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:74273322G>T	uc002jrd.1	-	15	4869	c.4689C>A	c.(4687-4689)acC>acA	p.T1563T	QRICH2_uc010dgw.1_Silent_p.T407T	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1563							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						GGTAGGGGTAGGTGAGGGTGT	0.612000														111			24		4.43304e-23	1.22848e-22	0.006320	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709329	128709329	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:128709329C>T	uc001qeo.1	-	1	918	c.867G>A	c.(865-867)caG>caA	p.Q289Q	KCNJ1_uc001qep.1_Silent_p.Q270Q|KCNJ1_uc001qeq.1_Silent_p.Q270Q|KCNJ1_uc001qer.1_Silent_p.Q270Q|KCNJ1_uc001qes.1_Silent_p.Q270Q|KCNJ1_uc021qsb.1_Silent_p.Q270Q	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	289					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTCAAAGTCCTGCTGGAGAA	0.483000														25			7		0	0	0.004482	0	0
IGF2	3481	broad.mit.edu	37	11	2156627	2156627	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:2156627A>G	uc009yde.3	-	1	230	c.127T>C	c.(127-129)Ttc>Ctc	p.F43L	IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.F43L|IGF2_uc009ydf.3_Missense_Mutation_p.F99L|IGF2_uc021qcb.1_Missense_Mutation_p.F43L|IGF2_uc001lvh.3_Missense_Mutation_p.F43L|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	43	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCACAGACGAACTGGAGGGTG	0.632000														14			6		0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70229864	70229864	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:70229864C>T	uc003tvw.4	+	7	2076	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	AUTS2_uc003tvx.4_Silent_p.T447T|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		tcacacccaccctccagcccc	0.652000														11			9		0	0	0.004482	0	0
LARP4B	23185	broad.mit.edu	37	10	890981	890981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:890981G>A	uc001ifs.1	-	4	486	c.445C>T	c.(445-447)Caa>Taa	p.Q149*		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	149							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGTCTGGTTGAGACTCATTT	0.378000														29			11		0	0	0.010729	0	0
AKAP6	9472	broad.mit.edu	37	14	33291332	33291332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:33291332G>A	uc001wrq.3	+	12	4483	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1438					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTGTAAATGGAAAAGTTGGA	0.368000														17			7		0	0	0.004482	0	0
C7orf58	79974	broad.mit.edu	37	7	120906863	120906863	+	Splice_Site	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:120906863G>T	uc003vjq.4	+	20	3080	c.2633_splice	c.e20+1	p.R878_splice		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	878						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTTGAAGAGGTAAATGTCTG	0.348000														25			19		6.49762e-13	1.7905e-12	0.006122	1	0
RELN	5649	broad.mit.edu	37	7	103292135	103292135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:103292135G>A	uc022ajr.1	-	14	2025	c.1865C>T	c.(1864-1866)aCt>aTt	p.T622I	RELN_uc022ajq.1_Missense_Mutation_p.T622I|RELN_uc010liz.3_Missense_Mutation_p.T622I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	622					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)		GGAGTAGACAGTGCTGTGGGG	0.463000														44			34		0	0	0.004878	0	0
KRT1	3848	broad.mit.edu	37	12	53072496	53072496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53072496C>T	uc001sau.1	-	1	695	c.636G>A	c.(634-636)tgG>tgA	p.W212*	KRT1_uc001sav.1_Nonsense_Mutation_p.W212*	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	212	Coil 1A.|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	p.W212R(1)		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						GCAGCAGCTCCCATTTTGTTT	0.468000														43			10		0	0	0.008291	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473699	134473699	+	Splice_Site	SNP	T	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:134473699T>A	uc022bos.1	-	13	2157	c.1998_splice	c.e13-1	p.R666_splice	RAPGEF1_uc022bot.1_Splice_Site_p.R648_splice|RAPGEF1_uc010mzm.3_Splice_Site|RAPGEF1_uc022bou.1_Splice_Site_p.R823_splice|RAPGEF1_uc022bov.1_Splice_Site_p.R653_splice|RAPGEF1_uc010mzr.1_Intron|RAPGEF1_uc010mzq.1_Intron|RAPGEF1_uc010mzs.1_Intron|RAPGEF1_uc010mzl.1_Intron|RAPGEF1_uc010mzo.1_Intron|RAPGEF1_uc010mzp.1_Intron	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	648					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTTGGGGCCCTGCGGGGAGAA	0.602000														14			3		0	0	0.004672	0	0
ZNF676	163223	broad.mit.edu	37	19	22362910	22362910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:22362910C>T	uc002nqs.1	-	2	1927	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	537					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)				TTGCCACATTCTTCACATTTG	0.418000														43			7		0	0	0.004482	0	0
CNGA2	1260	broad.mit.edu	37	X	150911705	150911705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:150911705G>A	uc004fey.1	+	6	954	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	244					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCCTGAGGTGCGCTT	0.532000														57			28		0	0	0.006320	0	0
FAM71B	153745	broad.mit.edu	37	5	156590260	156590260	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156590260T>C	uc003lwn.3	-	1	1116	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	339						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTAATACCCTCTGAGGATAT	0.567000														335			103		0	0	0.014410	0	0
CD2AP	23607	broad.mit.edu	37	6	47576922	47576922	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:47576922C>T	uc003oyw.3	+	15	2152	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	566					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCTGACTCCATTAGAAAT	0.343000														24			11		0	0	0.010729	0	0
RBFOX1	54715	broad.mit.edu	37	16	7714947	7714947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:7714947G>A	uc002cys.2	+	12	1895	c.907G>A	c.(907-909)Gga>Aga	p.G303R	RBFOX1_uc002cyt.2_Missense_Mutation_p.G276R|RBFOX1_uc010uxz.1_Missense_Mutation_p.G346R|RBFOX1_uc010uya.1_Missense_Mutation_p.G260R|RBFOX1_uc010uyb.1_Missense_Mutation_p.G303R|RBFOX1_uc002cyw.2_Intron|RBFOX1_uc002cyy.2_Intron|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	303					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus 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						TTACCAGGATGGATTTTATGG	0.438000														94			27		0	0	0.009535	0	0
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:113860273C>T	uc010rxb.2	+	7	1572	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	HTR3A_uc010rxa.2_Missense_Mutation_p.R415W|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R394W	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	409	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.V447G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637000														56			24		0	0	0.003330	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469681	156469681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156469681G>A	uc010jij.1	-	5	979	c.794C>T	c.(793-795)aCc>aTc	p.T265I	HAVCR1_uc011ddl.1_Missense_Mutation_p.T96I|HAVCR1_uc003lwi.2_Missense_Mutation_p.T265I|HAVCR1_uc021ygj.1_Missense_Mutation_p.T265I|HAVCR1_uc021ygk.1_Missense_Mutation_p.T96I	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	260					interspecies interaction between organisms	integral to membrane	receptor activity	p.T265T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTGTCACGGTGTCATTCCC	0.353000														239			67		0	0	0.014410	0	0
DENND4A	10260	broad.mit.edu	37	15	65968786	65968786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:65968786C>T	uc002api.3	-	23	4748	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	DENND4A_uc002aph.3_Missense_Mutation_p.E1412K	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1454W(1)		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						GACAAACCTTCCAAGGATGCA	0.378000														21			9		0	0	0.006214	0	0
FKBP8	23770	broad.mit.edu	37	19	18648543	18648543	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:18648543C>T	uc002njk.1	-	5	923	c.810G>A	c.(808-810)ttG>ttA	p.L270L	FKBP8_uc010xqi.1_Silent_p.L299L|FKBP8_uc002njj.1_Silent_p.L271L|FKBP8_uc021uqp.1_Silent_p.L111L	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	270					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTTCACCTTCAACTGCAGGA	0.642000														33			10		0	0	0.010729	0	0
ROCK1	6093	broad.mit.edu	37	18	18586524	18586524	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:18586524G>T	uc002kte.3	-	15	2614	c.1673C>A	c.(1672-1674)tCg>tAg	p.S558*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	558	Interaction with FHOD1.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.S558L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTGTGTCCGATTCTGTCCT	0.358000														55			19		3.32936e-07	9.09778e-07	0.006122	1	0
C15orf27	123591	broad.mit.edu	37	15	76452494	76452494	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:76452494C>T	uc002bbq.3	+	4	596	c.441C>T	c.(439-441)tcC>tcT	p.S147S	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	147						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCATTCTGTCCGTGTTCTTCT	0.507000														152			49		0	0	0.014410	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141834	64141834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:64141834G>A	uc004dvu.3	-	1	244	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	ZC4H2_uc004dvv.3_Missense_Mutation_p.R7C|ZC4H2_uc022byd.1_Missense_Mutation_p.R7C|ZC4H2_uc022byc.1_Missense_Mutation_p.R7C|ZC4H2_uc011mow.2_Missense_Mutation_p.R30C|ZC4H2_uc011mov.2_Missense_Mutation_p.R7C|ZC4H2_uc004dvw.2_Missense_Mutation_p.R30C	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	30							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCTTCAAACGAGCCTTGATC	0.483000														34			13		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179396030	179396030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179396030C>T	uc021vsy.1	-	306	97833	c.97608G>A	c.(97606-97608)atG>atA	p.M32536I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M26231I|TTN_uc021vta.1_Missense_Mutation_p.M26164I|TTN_uc021vtb.1_Missense_Mutation_p.M26039I|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33463	Ig-like 143.						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)			CAGCACTTTTCATTTCTGCAG	0.438000														89			31		0	0	0.007291	0	0
OR10H3	26532	broad.mit.edu	37	19	15852388	15852388	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:15852388C>T	uc010xoq.2	+	0	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCATGTACCTCTTCTTGTGTG	0.507000														184			45		0	0	0.014410	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979209	111979209	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:111979209G>A	uc004bdz.1	-	15	1921	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	542						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTTGTAAGGGACTTGCTGC	0.567000														94			24		0	0	0.005443	0	0
MOK	5891	broad.mit.edu	37	14	102718264	102718264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:102718264G>A	uc001ylm.3	-	4	578	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MOK_uc010txv.2_Missense_Mutation_p.H88Y|MOK_uc001yln.3_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	Homo sapiens MOK protein kinase (MOK), mRNA.	118	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										CTGTGAATATGATCCAGGGAC	0.323000														25			10		0	0	0.010729	0	0
MDGA1	266727	broad.mit.edu	37	6	37631827	37631827	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:37631827G>T	uc003onu.1	-	1	1302	c.123C>A	c.(121-123)gaC>gaA	p.D41E		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	41	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCTGATATTGTCCTCTTTCA	0.612000														77			21		1.50039e-11	4.12292e-11	0.012319	1	0
TSIX	9383	broad.mit.edu	37	X	73044503	73044503	+	RNA	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:73044503C>T	uc004ebn.2	+	0		c.32464C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCAAATTTTTCATTTACAAGT	0.333000														14			8		0	0	0.003080	0	0
RECK	8434	broad.mit.edu	37	9	36083538	36083538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:36083538C>T	uc003zyv.3	+	7	702	c.616C>T	c.(616-618)Cca>Tca	p.P206S	RECK_uc003zyu.4_Missense_Mutation_p.P206S|RECK_uc003zyw.3_Missense_Mutation_p.P78S|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	206	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCAATCTTATCCAATGAGGAA	0.348000														14			6		0	0	0.001984	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333993	28333993	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:28333993C>T	uc010jrc.3	+	6	1881	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	ZKSCAN3_uc003nle.4_Silent_p.G516G|ZKSCAN3_uc003nlf.4_Silent_p.G368G	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	516					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTGGAAAAGGCTTCACCCGAA	0.433000														39			16		0	0	0.003163	0	0
WDR59	79726	broad.mit.edu	37	16	74927577	74927577	+	Splice_Site	SNP	A	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:74927577A>C	uc002fdh.1	-	19	2102	c.2000_splice	c.e19+1	p.I667_splice	WDR59_uc002fdf.1_Splice_Site_p.I112_splice|WDR59_uc002fdg.1_Splice_Site_p.I259_splice	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	667										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTACTTACATGTACAGCTC	0.423000														20			9		0	0	0.008291	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664987	16664987	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:16664987G>A	uc002gqk.1	+	12	3697	c.3621G>A	c.(3619-3621)agG>agA	p.R1207R	CCDC144A_uc002gql.1_Silent_p.R723R|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	1207																	AAAGAGCAAGGAAGGAGATAG	0.328000														47			7		0	0	0.004482	0	0
FBXO24	26261	broad.mit.edu	37	7	100189321	100189321	+	Silent	SNP	A	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:100189321A>T	uc011kjz.1	+	3	536	c.468A>T	c.(466-468)ggA>ggT	p.G156G	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.G104G|FBXO24_uc003uvm.1_Silent_p.G118G|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.G106G	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	118						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGCATTTGGAGGCCGCCGCC	0.577000														67			26		0	0	0.006320	0	0
SYMPK	8189	broad.mit.edu	37	19	46355638	46355638	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:46355638G>A	uc002pdn.3	-	4	476	c.231C>T	c.(229-231)atC>atT	p.I77I	SYMPK_uc002pdo.1_Silent_p.I77I|SYMPK_uc002pdp.1_Silent_p.I77I|SYMPK_uc002pdq.2_Silent_p.I77I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	77	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGAATGCGATGATCTCCTGCC	0.527000														60			28		0	0	0.005443	0	0
HFM1	164045	broad.mit.edu	37	1	91816303	91816303	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:91816303G>A	uc001doa.4	-	17	2297	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F	HFM1_uc009wdb.3_Intron|HFM1_uc010osu.2_Missense_Mutation_p.S412F|HFM1_uc010osv.1_Missense_Mutation_p.S417F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	733							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACCATAATGAGATGGATTTTT	0.348000														20			9		0	0	0.004482	0	0
NDST4	64579	broad.mit.edu	37	4	115858653	115858653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:115858653C>T	uc003ibu.3	-	4	1907	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	410	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)		ATTGGTATTCCATGTTCCTAA	0.433000														18			6		0	0	0.001168	0	0
MYOCD	93649	broad.mit.edu	37	17	12626201	12626201	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:12626201G>A	uc002gno.2	+	4	590	c.291G>A	c.(289-291)atG>atA	p.M97I	MYOCD_uc002gnn.2_Missense_Mutation_p.M97I|MYOCD_uc002gnp.1_Missense_Mutation_p.M1I	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	97					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGCTCAGATGAAGCTGAAAA	0.443000														98			25		0	0	0.005443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228284	140228284	+	Silent	SNP	C	T	T	rs71588635		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140228284C>T	uc003lhu.2	+	0	928	c.204C>T	c.(202-204)tcC>tcT	p.S68S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S68S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	81	Cadherin 1.				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)			AGTTGGATTCCAAAGGCCGCG	0.637000														89			26		0	0	0.004656	0	0
FBXW5	54461	broad.mit.edu	37	9	139835775	139835775	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:139835775G>A	uc004cjx.3	-	7	1569	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Missense_Mutation_p.A210V|FBXW5_uc004cjz.3_Missense_Mutation_p.A192V	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	462							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCGCGGTGCGCACGCAGAGC	0.672000														22			7		0	0	0.003080	0	0
PCF11	51585	broad.mit.edu	37	11	82880555	82880555	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:82880555G>T	uc001ozx.4	+	7	3523	c.3178G>T	c.(3178-3180)Ggt>Tgt	p.G1060C	PCF11_uc010rsu.1_Missense_Mutation_p.G1191C	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1060	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGGTCAGCCAGGTCCTAGATT	0.507000														32			11		0.000978159	0.00263619	0.010729	1	0
GJA8	2703	broad.mit.edu	37	1	147380868	147380868	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:147380868A>C	uc021ovm.1	+	0	786	c.786A>C	c.(784-786)aaA>aaC	p.K262N	GJA8_uc001epu.2_Missense_Mutation_p.K262N	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	262					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCATCCAGAAAGCCAAGGGCT	0.557000														42			7		0	0	0.001984	0	0
OR10G2	26534	broad.mit.edu	37	14	22102844	22102844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:22102844G>A	uc010tmc.2	-	0	155	c.155C>T	c.(154-156)aCc>aTc	p.T52I		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCCACATGGTGAGCAGAAT	0.542000														25			15		0	0	0.002450	0	0
ISL1	3670	broad.mit.edu	37	5	50685521	50685521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:50685521G>A	uc003jor.3	+	3	1068	c.520G>A	c.(520-522)Gtc>Atc	p.V174I		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	174					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCGGCCCCACGTCCACAAGCA	0.721000														19			9		0	0	0.008291	0	0
ZBED4	9889	broad.mit.edu	37	22	50277928	50277928	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50277928C>G	uc003bix.2	+	1	1088	c.618C>G	c.(616-618)atC>atG	p.I206M	ZBED4_uc021wrx.1_Missense_Mutation_p.I206M	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	206						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCACCCATCAAACTTGTCC	0.547000														28			12		0	0	0.001855	0	0
OR52E6	390078	broad.mit.edu	37	11	5862975	5862975	+	Silent	SNP	G	A	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5862975G>A	uc010qzq.2	-	0	153	c.153C>T	c.(151-153)atC>atT	p.I51I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A50D(1)		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)		GCTCAGTTTGGATCACAAAGA	0.478000														47			16		0	0	0.006122	0	0
TGM6	343641	broad.mit.edu	37	20	2380983	2380983	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:2380983C>T	uc002wfy.1	+	6	943	c.882C>T	c.(880-882)gtC>gtT	p.V294V	TGM6_uc010gal.1_Silent_p.V294V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	294					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V294V(2)|p.R293R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCACACGGGTCGTGTCCAACT	0.617000														36			21		0	0	0.012319	0	0
SCN1A	6323	broad.mit.edu	37	2	166848050	166848050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:166848050C>T	uc002udo.4	-	27	5962	c.5735G>A	c.(5734-5736)cGa>cAa	p.R1912Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R1884Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R1901Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTTGTTTTCGTTTTAAAGT	0.413000														47			12		0	0	0.013537	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748441	68748441	+	Silent	SNP	C	T	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:68748441C>T	uc010rqf.2	-	0	15	c.15G>A	c.(13-15)ttG>ttA	p.L5L		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	5						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACTGCTATTCAAAGTCTGGT	0.562000														42			12		0	0	0.002450	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316089	73316092	+	Frame_Shift_Del	DEL	GCTG	-	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:73316089_73316092delGCTG	uc002siu.4	-	1	1024_1027	c.783_786delCAGC	c.(781-786)gccagcfs	p.A261fs	RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.A183fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	261					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAAGCTCCCGCTGGCTGAGGACA	0.647													---	37	---	---	8	---					
SLC35F5	80255	broad.mit.edu	37	2	114500277	114500277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:114500277delA	uc002tku.1	-	6	1156	c.742delT	c.(742-744)tgcfs	p.C248fs	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Frame_Shift_Del_p.C242fs	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	248					transport	integral to membrane		p.C248fs*22(4)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343													---	87	---	---	8	---					
ABCA1	19	broad.mit.edu	37	9	107602665	107602666	+	Frame_Shift_Ins	INS	-	C	C	rs2246841	byFrequency	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:107602665_107602666insC	uc004bcl.3	-	8	1352_1353	c.948_949insG	c.(946-951)gggctgfs	p.G316fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	316					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|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	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor 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)	TTGATCTTCAGCCCCCCTCCCT	0.515													---	37	---	---	8	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	-	-	rs78912196		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:60148570delA	uc001jkf.3	+	3	564	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													---	65	---	---	8	---					
POLA2	23649	broad.mit.edu	37	11	65057338	65057340	+	In_Frame_Del	DEL	AAG	-	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:65057338_65057340delAAG	uc001odj.3	+	12	1571_1573	c.1239_1241delAAG	c.(1237-1242)acaaga>aca	p.R414del	POLA2_uc010rod.1_In_Frame_Del_p.R206del|POLA2_uc001odk.3_In_Frame_Del_p.R111del	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	414					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTGAAGGCACAAGAAGGTCAGAT	0.404													---	7	---	---	5	---					
CLEC16A	23274	broad.mit.edu	37	16	11272268	11272269	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:11272268_11272269delCT	uc021tcy.1	+	23	3113_3114	c.2883_2884delCT	c.(2881-2886)gactctfs	p.D961fs	CLEC16A_uc002dao.3_Frame_Shift_Del_p.D959fs|CLEC16A_uc002dap.3_Frame_Shift_Del_p.D48fs	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	961								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGAAGCAGACTCTAAGCCCAG	0.604													---	56	---	---	29	---					
CASC3	22794	broad.mit.edu	37	17	38324121	38324121	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:38324121delT	uc010cwt.1	+	9	1965	c.1670delT	c.(1669-1671)atcfs	p.I557fs	CASC3_uc002hue.3_Frame_Shift_Del_p.I557fs	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	557	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGGGACCAATCTATACCCAT	0.517													---	132	---	---	27	---					
