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
PTGES2	80142	broad.mit.edu	37	9	130885238	130885238	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:130885238G>C	uc004bti.3	-	4	1340	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	PTGES2_uc004btk.3_Missense_Mutation_p.L97V|PTGES2_uc004btl.3_Missense_Mutation_p.L97V	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	288	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCTGATGAGGTACATGGCC	0.627000														86			4		0	0	0.014758	0	0
PIGO	84720	broad.mit.edu	37	9	35092632	35092632	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:35092632C>T	uc003zwd.3	-	6	1648	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	PIGO_uc003zwe.3_Missense_Mutation_p.E418K|PIGO_uc003zwf.3_Missense_Mutation_p.E418K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	418					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587000														67			17		0	0	0.038395	0	0
ZNF28	7576	broad.mit.edu	37	19	53304776	53304776	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304776C>G	uc002qad.3	-	3	479	c.322G>C	c.(322-324)Gac>Cac	p.D108H	ZNF28_uc002qac.3_Missense_Mutation_p.D54H|ZNF28_uc010eqe.3_Missense_Mutation_p.D54H|ZNF28_uc021uza.1_Missense_Mutation_p.D55H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCTGCATGGTCATTTGTTTCA	0.408000														442			12		0	0	0.093190	0	0
PTPRO	5800	broad.mit.edu	37	12	15636959	15636959	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:15636959T>C	uc001rcv.2	+	1	597	c.127T>C	c.(127-129)Tca>Cca	p.S43P	PTPRO_uc001rcw.2_Missense_Mutation_p.S43P|PTPRO_uc001rcu.2_Missense_Mutation_p.S43P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	43						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S43S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCGTTGTCTCATTAGAAGC	0.348000														104			41		0	0	0.124865	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910801	101910801	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:101910801A>T	uc010nod.3	+	2	2602	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M654L|GPRASP1_uc004ejj.4_Missense_Mutation_p.M654L|GPRASP1_uc004eji.4_Missense_Mutation_p.M654L|GPRASP1_uc022cbd.1_Missense_Mutation_p.M654L	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	654	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGGTCAGTATGAAGCATGG	0.478000														238			11		0	0	0.069234	0	0
CBLN3	643866	broad.mit.edu	37	14	24897090	24897090	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:24897090G>A	uc001wpg.4	-	2	994	c.523C>T	c.(523-525)Cct>Tct	p.P175S	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	175	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGGTCCCCAGGGTCCAAGGGC	0.587000														196			7		0	0	0.038147	0	0
ERO1L	30001	broad.mit.edu	37	14	53150513	53150513	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:53150513T>C	uc001wzv.3	-	1	447	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	76					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					taCCTTGTAATACCTAAAGTA	0.259000														33			3		0	0	0.115264	0	0
ZNF28	7576	broad.mit.edu	37	19	53303160	53303160	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53303160C>G	uc002qad.3	-	3	2095	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	ZNF28_uc002qac.3_Missense_Mutation_p.Q592H|ZNF28_uc010eqe.3_Missense_Mutation_p.Q592H|ZNF28_uc021uza.1_Missense_Mutation_p.Q593H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGGATGACATCTGACTGAAGG	0.433000														354			15		0	0	0.033300	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345689	135345689	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr10:135345689C>G	uc001lnj.1	+	3	582	c.549C>G	c.(547-549)atC>atG	p.I183M	CYP2E1_uc001lnk.1_Missense_Mutation_p.I46M|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	183					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TAGCCGACATCCTCTTCCGCA	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					160			11		0	0	0.080935	0	0
ZNF28	7576	broad.mit.edu	37	19	53304746	53304746	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304746C>G	uc002qad.3	-	3	509	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ZNF28_uc002qac.3_Missense_Mutation_p.E64Q|ZNF28_uc010eqe.3_Missense_Mutation_p.E64Q|ZNF28_uc021uza.1_Missense_Mutation_p.E65Q	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E65*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGTCAACTCTTTGATTTCT	0.403000														459			15		0	0	0.119110	0	0
ZNF146	7705	broad.mit.edu	37	19	36727354	36727354	+	Silent	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:36727354C>T	uc002odq.4	+	3	1535	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF146_uc010eet.3_Silent_p.L4L|ZNF146_uc010eeu.3_Silent_p.L4L|ZNF146_uc021ute.1_Silent_p.L4L	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTCACACCTCAGCCAGCAGA	0.418000														69			4		0	0	0.009096	0	0
DENND5B	160518	broad.mit.edu	37	12	31605154	31605154	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:31605154C>T	uc001rkh.1	-	6	1605	c.1454G>A	c.(1453-1455)gGc>gAc	p.G485D	DENND5B_uc001rki.1_Missense_Mutation_p.G450D|DENND5B_uc001rkj.3_Missense_Mutation_p.G472D|DENND5B_uc001rkk.1_Missense_Mutation_p.G372D	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	450						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTTTCATTGCCCTTCAGTAA	0.448000														315			7		0	0	0.047766	0	0
ARSH	347527	broad.mit.edu	37	X	2947386	2947386	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:2947386C>G	uc011mhj.2	+	7	1298	c.1298C>G	c.(1297-1299)aCg>aGg	p.T433R		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	433						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATCTGCACACGGTCAGGTGG	0.572000														222			3		0	0	0.115264	0	0
UNC13D	201294	broad.mit.edu	37	17	73831849	73831849	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:73831849G>A	uc002jpp.3	-	18	1986	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	UNC13D_uc010wsk.1_Missense_Mutation_p.R536W|UNC13D_uc002jpq.1_Missense_Mutation_p.R186W	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	536	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGCACCCGCTTGGCCACC	0.622000									Familial Hemophagocytic Lymphohistiocytosis					164			4		0	0	0.009096	0	0
NOD1	10392	broad.mit.edu	37	7	30491380	30491380	+	Silent	SNP	C	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:30491380C>A	uc003tav.3	-	5	2176	c.1653G>T	c.(1651-1653)gcG>gcT	p.A551A		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	551					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGCTGCCCCCGCAGGGGGCA	0.622000														177			4		0.00024832	0.000261054	0.009096	1	0
MOCS3	27304	broad.mit.edu	37	20	49575532	49575532	+	Silent	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr20:49575532G>A	uc002xvy.1	+	0	170	c.153G>A	c.(151-153)ccG>ccA	p.P51P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	51					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCTGCCGCCGAAGGCCGCTC	0.652000														89			4		0	0	0.029380	0	0
GHR	2690	broad.mit.edu	37	5	42718766	42718766	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:42718766G>A	uc021xxv.1	+	9	1315	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	GHR_uc003jmt.3_Missense_Mutation_p.R386H|GHR_uc003jmu.3_Missense_Mutation_p.R386H|GHR_uc003jmv.2_Missense_Mutation_p.R386H|GHR_uc021xxw.1_Missense_Mutation_p.R386H|GHR_uc021xxx.1_Missense_Mutation_p.R386H|GHR_uc021xxy.1_Missense_Mutation_p.R386H|GHR_uc021xxz.1_Missense_Mutation_p.R386H|GHR_uc021xya.1_Missense_Mutation_p.R386H|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R199H|GHR_uc021xyd.1_Missense_Mutation_p.R364H	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	386					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACTCTGGACGTACCAGCTGT	0.473000														169			6		0	0	0.021553	0	0
OR13F1	138805	broad.mit.edu	37	9	107266544	107266544	+	Splice_Site	SNP	A	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:107266544A>G	uc011lvm.2	+	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACATAAAAAAATGTTCCCGGC	0.368000														90			10		0	0	0.058154	0	0
TUSC5	286753	broad.mit.edu	37	17	1198817	1198817	+	Silent	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:1198817C>T	uc002fsi.1	+	1	759	c.420C>T	c.(418-420)gaC>gaT	p.D140D		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	140					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAACGTGGACGGCGCCCGGA	0.622000														226			13		0	0	0.132662	0	0
MUC16	94025	broad.mit.edu	37	19	9011326	9011326	+	Silent	SNP	G	C	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:9011326G>C	uc002mkp.3	-	35	39111	c.38907C>G	c.(38905-38907)gtC>gtG	p.V12969V	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12971	SEA 6.				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						GTTCACCATTGACATAGAGAC	0.537000														283			9		0	0	0.069234	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	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					71			33		0	0	0.059317	0	0
EXOSC10	5394	broad.mit.edu	37	1	11129618	11129618	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:11129618G>A	uc001asa.3	-	21	2536	c.2486C>T	c.(2485-2487)gCt>gTt	p.A829V	EXOSC10_uc001asb.3_Missense_Mutation_p.A804V	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	829					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTCCTCACCAGCAAAAGCCTT	0.502000														624			6		0	0	0.029380	0	0
SETD2	29072	broad.mit.edu	37	3	47162712	47162712	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr3:47162712C>G	uc003cqv.3	-	2	3467	c.3381G>C	c.(3379-3381)gaG>gaC	p.E1127D	SETD2_uc003cqs.3_Missense_Mutation_p.E1138D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGGATTCTTCTCTGTTCCTT	0.373000			"""N, F, S, Mis"""		clear cell renal carcinoma									220			12		0	0	0.080935	0	0
BRCA2	675	broad.mit.edu	37	13	32953493	32953493	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr13:32953493C>T	uc001uub.1	+	21	9021	c.8794C>T	c.(8794-8796)Cac>Tac	p.H2932Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2932					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTGAATAATCACAGGCAAAT	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				73			9		0	0	0.069234	0	0
CNOT6	57472	broad.mit.edu	37	5	179996203	179996203	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:179996203T>C	uc003mlx.3	+	9	1470	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CNOT6_uc010jld.3_Missense_Mutation_p.V374A|CNOT6_uc010jle.3_Missense_Mutation_p.V369A	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	374					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGAAGTTGGTACAAACTATG	0.413000														157			3		0	0	0.009096	0	0
CGN	57530	broad.mit.edu	37	1	151491515	151491515	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:151491515C>T	uc009wmw.3	+	1	664	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	168	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACACTGCTCCCCTGTCTTC	0.592000														171			6		0	0	0.029380	0	0
CTSL3	392360	broad.mit.edu	37	9	90401768	90401768	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:90401768G>A	uc004apm.1	+	4	626	c.620G>A	c.(619-621)aGg>aAg	p.R207K						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						CATGACATGAGGAATCATCTG	0.498000														98			11		0	0	0.105934	0	0
TTC8	123016	broad.mit.edu	37	14	89319349	89319349	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:89319349C>G	uc010ath.3	+	7	841	c.707C>G	c.(706-708)tCt>tGt	p.S236C	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S220C|TTC8_uc001xxj.3_Missense_Mutation_p.S210C|TTC8_uc001xxk.3_Missense_Mutation_p.S180C|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_Missense_Mutation_p.S22C|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	246					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGAACATTCTCAGTACAAG	0.363000														65			31		0	0	0.059317	0	0
GPR56	9289	broad.mit.edu	37	16	57695714	57695714	+	Silent	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:57695714C>T	uc002emb.2	+	13	2080	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	GPR56_uc002ema.1_Silent_p.I421I|GPR56_uc002emc.2_Silent_p.I590I|GPR56_uc002emf.2_Silent_p.I590I|GPR56_uc010vhs.1_Silent_p.I596I|GPR56_uc002emd.2_Silent_p.I590I|GPR56_uc002eme.2_Silent_p.I590I|GPR56_uc010vht.1_Silent_p.I595I|GPR56_uc002emg.3_Silent_p.I590I|GPR56_uc010vhu.1_Silent_p.I415I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	596					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGCAGATCCTGCGGCTGC	0.602000														118			4		0	0	0.014758	0	0
PARP12	64761	broad.mit.edu	37	7	139757774	139757774	+	Silent	SNP	A	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:139757774A>G	uc003vvl.1	-	1	1261	c.387T>C	c.(385-387)acT>acC	p.T129T	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	129						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAACGCCATGAGTTCTCAGCA	0.483000														170			3		0	0	0.115264	0	0
CCDC19	25790	broad.mit.edu	37	1	159842908	159842908	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:159842908G>A	uc001fui.3	-	10	1421	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.A383V|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	468						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCCCTGTGGCCTTTTTCTC	0.602000														49			25		0	0	0.116897	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137758	40137758	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr11:40137758C>T	uc021qgf.1	-	0	85	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	LRRC4C_uc001mxc.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxd.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxa.1_Missense_Mutation_p.V29M|LRRC4C_uc001mxb.1_Missense_Mutation_p.V25M	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	29					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCAGCAGCACCACAAGCAGG	0.498000														37			12		0	0	0.093190	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415391	88415391	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr4:88415391A>T	uc010ikm.3	-	4	1133	c.561T>A	c.(559-561)gaT>gaA	p.D187E	SPARCL1_uc011cdc.2_Missense_Mutation_p.D62E|SPARCL1_uc003hqs.4_Missense_Mutation_p.D187E|SPARCL1_uc011cdd.2_Missense_Mutation_p.D62E	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	187					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.R186M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTTTCCTTGATCCCTTAGGC	0.398000														577			8		0	0	0.058154	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823271	48823271	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:48823271C>A	uc002isq.3	+	7	1052	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LUC7L3_uc010wmw.2_Nonsense_Mutation_p.S219*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.S295*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.S295*	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	295	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAAGTCGTTCACGAAGTAGA	0.458000														17			6		2.7689e-08	2.98749e-08	0.029380	1	0
DSP	1832	broad.mit.edu	37	6	7585761	7585761	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr6:7585761A>G	uc003mxp.1	+	23	8545	c.8266A>G	c.(8266-8268)Ata>Gta	p.I2756V	DSP_uc003mxq.1_Missense_Mutation_p.I2157V|DSP_uc021yle.1_Missense_Mutation_p.I2313V	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2756	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGGGTTCATAGATGGCCG	0.537000														152			5		0	0	0.014758	0	0
